Literature search at Indiana University, Bloomington, Indiana
1: 990 CORPUS-CALLOSUM / all subheadings
2: 866 AGENESIS
3: 144 #1 and AGENESIS
MEDLINE EXPRESS (R) 1/95-8/95 1 of 144
TI: Inhibitory and excitatory interhemispheric transfers between motor cortical areas in normal humans and patients with abnormalities of the corpus callosum.
AU: Meyer-BU; Roricht-S; Grafin-von-Einsiedel-H; Kruggel-F; Weindl-A
AD: Department of Neurology of the Charite, Humboldt-Universitat zu Berlin, Germany.
SO: Brain. 1995 Apr; 118 ( Pt 2): 429-40
ISSN: 0006-8950
PY: 1995
LA: ENGLISH
CP: ENGLAND
AB: Transcranial magnetic stimulation of the motor cortex was performed in 10 normal subjects and 10 patients with radiographical abnormalities of the corpus callosum. Seven patients had a complete or partial agenesis or hypoplasia of the corpus callosum, two had a thin corpus callosum due to hydrocephalus or white matter degeneration and one had a circumscript contusion lesion of the corpus callosum. The patients served as a clinical model to investigate transcallosal influences on excitatory and inhibitory effects of motor cortex stimulation and to assess the potential diagnostic use of interhemispheric conduction studies and the contribution of interhemispheric interaction on transcranially elicited contralateral excitatory and inhibitory motor responses. Stimulation over one motor cortex suppressed tonic voluntary electromyographic activity in ipsilateral hand muscles in all subjects with preserved anterior half of the trunk of the corpus callosum. Since this suppression was lacking or had a delayed onset latency in patients with absence or abnormalities of the anterior half of the trunk of the corpus callosum it can be concluded that it is due to a transcallosal inhibition (Ti) of the opposite motor cortex mediated by fibres passing through this part of the corpus callosum. In normal subjects Ti had an mean onset latency of 36.1 +/- 3.5 ms (SD) and a duration of 24.5 +/- 3.9 ms. The calculated mean transcallosal conduction time was 13 ms. The threshold of Ti recorded in muscles ipsilateral to stimulation tended to be higher than the one for eliciting excitatory contralateral motor responses (56 +/- 6% versus 46 +/- 10% maximum stimulator output). Cortical thresholds (at rest) for contralateral excitatory hand motor responses were higher in patients with developmental abnormalities of the corpus callosum than in normals (66 +/- 17% versus 46 +/- 10% maximum stimulator output), which probably reflects also a facilitatory transcallosal interaction of both motor cortices in normals. In contrast, facilitation of cortically elicited motor responses in one hand by strong contraction of the other hand was the same in the patients with agenesis of the corpus callosum and normals, which suggests that this facilitatory spread takes place on a spinal rather than on a cortical level. Central motor latencies and amplitudes of contralateral hand motor responses were the same in patients with developmental abnormalities of the corpus callosum and normals (6.1 +/- 0.7 ms versus 6.3 +/- 0.7 ms and 6.7 +/- 2.4 mV versus 6.6 +/- 2.9 mV) so that callosal transfers do not seem to influence corticospinal conduction properties.(ABSTRACT TRUNCATED AT 400 WORDS)
MESH: Adult-; Corpus-Callosum-abnormalities; Laterality-; Motor-Cortex-physiopathology; Muscles-physiology; Muscles-physiopathology; Neural-Pathways
MESH: *Brain-Diseases-physiopathology; *Corpus-Callosum-physiopathology; *Magnetics-; *Motor-Cortex-physiology
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 95253874
UD: 9508
SB: AIM
MEDLINE EXPRESS (R) 1/95-8/95 2 of 144
TI: Aicardi syndrome: natural history and possible predictors of severity.
AU: Menezes-AV; MacGregor-DL; Buncic-JR
AD: Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada.
SO: Pediatr-Neurol. 1994 Nov; 11(4): 313-8
ISSN: 0887-8994
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are girls with severe cognitive and physical handicaps, and epilepsy. Fourteen patients with Aicardi syndrome, seen at The Hospital for Sick Children, Toronto, Ontario, Canada, between 1975 and 1992, were reviewed to document the natural history of the disease and obtain life-table estimates of survival. The relationship between 28 neurologic features present in infancy and clinical outcome, as measured by mobility and cognitive function also was examined. Life-table analysis indicated that the estimated survival rate was 76% at 6 years of age and 40% at 15 years of age. Three of the 14 girls (21%) could walk or crawl and 4 (29%) had some language ability. None of the 28 neurologic features was predictive of ultimate clinical outcome. This information should be discussed with parents of children with Aicardi syndrome.
MESH: Abnormalities,-Multiple-diagnosis; Abnormalities,-Multiple-genetics; Abnormalities,-Multiple-mortality; Adolescence-; Adult-; Cause-of-Death; Child-; Child,-Preschool; Follow-Up-Studies; Infant-; Life-Tables; Mental-Retardation-diagnosis; Mental-Retardation-genetics; Mental-Retardation-mortality; Neurologic-Examination; Neuropsychological-Tests; Retinal-Perforations-genetics; Retinal-Perforations-mortality; Spasms,-Infantile-genetics; Spasms,-Infantile-mortality; Survival-Analysis; Syndrome-
MESH: *Corpus-Callosum-abnormalities; *Retinal-Perforations-diagnosis; *Spasms,-Infantile-diagnosis
TG: Female; Human
PT: JOURNAL-ARTICLE
AN: 95217262
UD: 9507
MEDLINE EXPRESS (R) 1/95-8/95 3 of 144
TI: [Agenesis of the corpus callosum]
TO: Corpus callosum-agenesi.
AU: Nielsen-LH
AD: Esbjerg Centralsygehus, borneafdelingen.
SO: Ugeskr-Laeger. 1995 Feb 6; 157(6): 737-9
ISSN: 0041-5782
PY: 1995
LA: DANISH; NON-ENGLISH
CP: DENMARK
AB: This article presents ten children with agenesis of the corpus callosum diagnosed during the period 1978-1992. The children were re-examined in 1992, and the results of the examination compared with the results of other authors. Among the ten children, five had other cerebral anomalies, six had eye anomalies, six were mentally retarded and two suffered from epilepsy. There was one boy with inversion on chromosome no. 1, one girl with Aicardie's syndrome, two sisters with agenesis of the corpus callosum (ACC), one of whom was suffering from diabetes insipidus, and two brothers with Walker Warburg's syndrome. ACC is often associated with mental retardation, epilepsy and eye anomalies and may be found associated to many different syndromes.
MESH: Adolescence-; Child-; Child,-Preschool; English-Abstract; Epilepsy-diagnosis; Infant-; Mental-Retardation-diagnosis; Syndrome-
MESH: *Abnormalities,-Multiple-diagnosis; *Corpus-Callosum-abnormalities
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 95216176
UD: 9507
MEDLINE EXPRESS (R) 1/95-8/95 4 of 144
TI: A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.
AU: Genuardi-M; Calvieri-F; Tozzi-C; Coslovi-R; Neri-G
AD: Istituto di Genetica Medica, Facolta di Medicina e Chirurgia A. Gemelli, Universita Cattolica del Sacro Cuore, Rome, Italy.
SO: Clin-Dysmorphol. 1994 Oct; 3(4): 292-6
ISSN: 0962-8827
PY: 1994
LA: ENGLISH
CP: ENGLAND
AB: We describe a boy with an interstitial deletion of the proximal portion of chromosome 3q. Prominent physical characteristics were a dysmorphic face with apparent hypertelorism, signs of prenatal lymphedema, foot contractures and agenesis of the corpus callosum. The finding of corpus callosum agenesis in a previously reported patient with an overlapping deletion suggests an additional locus for this malformation.
MESH: Chromosome-Banding; Chromosome-Mapping; Infant-; Karyotyping-
MESH: *Abnormalities,-Multiple-genetics; *Chromosome-Deletion; *Chromosomes,-Human,-Pair-3; *Corpus-Callosum-abnormalities
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 95202102
UD: 9506
MEDLINE EXPRESS (R) 1/95-8/95 5 of 144
TI: [Agenesis of the corpus callosum, heterotopia of the gray cortex and interhemispheric cyst. Late radiologic diagnosis in an asymptomatic adult]
TO: Agenesie calleuse, heterotopie de substance grise et kyste interhemispherique. Diagnostic radiologique tardif chez un adulte asymptomatique.
AU: Gille-M; Jacquemin-C; Bachy-N; Delbecq-J; Depre-A
AD: Service de Neurologie, Clinique Ste Elisabeth, Bruxelles.
SO: Rev-Neurol-Paris. 1994; 150(2): 161-3
ISSN: 0035-3787
PY: 1994
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: Agenesis of the corpus callosum may occur as an isolated finding; most often, it is present in association with other cerebral malformations such as cortical heterotopias. Computerized tomography and magnetic resonance imaging are methods of choice to detect these cerebral prenatal abnormalities, especially asymptomatic forms. We report the case of an asymptomatic young adult with complete callosal agenesis, cortical heterotopia and interhemispheric cyst, on CT and MR imaging.
MESH: Adult-; Corpus-Callosum-radiography; Electroencephalography-; English-Abstract; Magnetic-Resonance-Imaging; Tomography,-X-Ray-Computed
MESH: *Brain-Diseases-diagnosis; *Cerebral-Cortex; *Choristoma-diagnosis; *Corpus-Callosum-abnormalities; *Cysts-diagnosis
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 95167309
UD: 9505
MEDLINE EXPRESS (R) 1/95-8/95 6 of 144
TI: Interhemispheric subdural haematomas.
AU: Iplikcioglu-AC; Bayar-MA; Kokes-F; Doganay-S; Gokcek-C
AD: Department of Neurosurgery, Ankara Hospital, Turkey.
SO: Br-J-Neurosurg. 1994; 8(5): 627-31
ISSN: 0268-8697
PY: 1994
LA: ENGLISH
CP: ENGLAND
AB: Eight cases of interhemispheric subdural haematomas (ISDHs) are described. Trauma was the most common cause. Two patients were hydrocephalic and one of them had also agenesis of the corpus callosum. The diagnoses were established by CT. In one of the cases with chronic ISDHs, CT findings suggested a subdural empyema. Conservative treatment was preferred for neurologically stable patients. In one of the patients, the haematoma migrated to the cerebral convexity after liquefaction.
MESH: Adult-; Child,-Preschool; Corpus-Callosum-abnormalities; Corpus-Callosum-radiography; Hematoma,-Subdural-radiography; Hematoma,-Subdural-surgery; Infant-; Infant,-Newborn; Middle-Age; Tomography,-X-Ray-Computed; Treatment-Outcome
MESH: *Corpus-Callosum; *Hematoma,-Subdural-etiology
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 95160961
UD: 9505
MEDLINE EXPRESS (R) 1/95-8/95 7 of 144
TI: Cognitive and sensori-motor functioning in the absence of the corpus callosum: neuropsychological studies in callosal agenesis and callosotomized patients.
AU: Sauerwein-HC; Lassonde-M
AD: Groupe de Recherche en Neuropsychologie Experimentale, Universite de Montreal, Quebec, Canada.
SO: Behav-Brain-Res. 1994 Oct 20; 64(1-2): 229-40
ISSN: 0166-4328
PY: 1994
LA: ENGLISH
CP: NETHERLANDS
AB: The aim of the present study was to investigate the role of the corpus callosum in cognitive and sensori-motor functioning as measured by a neuropsychological test battery. After a brief review and analysis of the literature, we report our own studies in acallosal subjects (n = 9) and callosotomized patients (n = 25). The main instrument of evaluation was the Michigan Neuropsychological Test Battery. This battery was supplemented by age-appropriate intelligence tests. The performance of the acallosal group was compared to that of two matched control groups: one group consisting of children and adolescents that attended the same school as the acallosals and a second group of subjects recruited from regular schools. The callosotomized patients, tested pre- and post-operatively, served as their own controls. Taken together, the results of the reviewed and personal studies suggest that absence of the corpus callosum does not necessarily impede cognitive functioning. However, samples drawn from clinical populations tend to show a larger variability as to their mental abilities. In keeping with previous findings, our results indicate that the corpus callosum does play a role in bimanual motor coordination although other pathways (probably ipsilateral and/or subcortical) may provide adequate compensation in many cases. The data further suggest that the corpus callosum may be important for interhemispheric transfer of tactuo-motor learning when a spatial component is involved. Finally, our results are consistent with a facilitatory role of the corpus callosum in cognitive and sensori-motor functioning which allows for interhemispheric compensation as part of cerebral reorganization in the case of unilateral brain damage.
MESH: Adolescence-; Adult-; Brain-Damage,-Chronic-diagnosis; Brain-Damage,-Chronic-physiopathology; Cerebral-Cortex-physiopathology; Child-; Child,-Preschool; Cognition-Disorders-diagnosis; Corpus-Callosum-physiopathology; Corpus-Callosum-surgery; Epilepsy-physiopathology; Epilepsy-surgery; Intelligence-Tests; Laterality-physiology; Neural-Pathways-physiopathology; Orientation-physiology; Postoperative-Complications-diagnosis; Postoperative-Complications-physiopathology; Recall-physiology
MESH: *Attention-physiology; *Cognition-Disorders-physiopathology; *Corpus-Callosum-abnormalities; *Dominance,-Cerebral-physiology; *Neuropsychological-Tests; *Psychomotor-Performance-physiology
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 95142925
UD: 9505
MEDLINE EXPRESS (R) 1/95-8/95 8 of 144
TI: Schizophrenia and the corpus callosum: developmental, structural and functional relationships.
AU: David-AS
AD: Department of Psychological Medicine, King's College Hospital, London, UK.
SO: Behav-Brain-Res. 1994 Oct 20; 64(1-2): 203-11
ISSN: 0166-4328
PY: 1994
LA: ENGLISH
CP: NETHERLANDS
AB: Several empirical and theoretical connections exist between schizophrenia and the corpus callosum: (1) disconnection symptoms resemble certain psychotic phenomena; (2) abnormal interhemispheric transmission could explain typically schizophrenic phenomena; (3) cases of psychosis have been found in association with complete and partial agenesis of the callosum; (4) experimental neuropsychology with schizophrenic patients has revealed abnormal patterns of interhemispheric transfer; (5) studies using magnetic resonance imaging have shown abnormal callosal dimensions in schizophrenic patients. The evidence in support of these links is discussed critically. Novel neuropsychological approaches in the study of information transfer in the visual modality between the cerebral hemispheres, consistent with callosal hyperconnectivity in schizophrenic patients but not matched psychiatric controls are highlighted. Some suggestions for further work including integrating functional and structural measures are offered.
MESH: Attention-physiology; Brain-Mapping; Corpus-Callosum-abnormalities; Neural-Pathways-physiopathology; Neuropsychological-Tests; Organic-Mental-Disorders,-Psychotic-psychology
MESH: *Cerebral-Cortex-physiopathology; *Corpus-Callosum-physiopathology; *Dominance,-Cerebral-physiology; *Organic-Mental-Disorders,-Psychotic-physiopathology; *Schizophrenia-physiopathology; *Schizophrenic-Psychology
TG: Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 95142922
UD: 9505
MEDLINE EXPRESS (R) 1/95-8/95 9 of 144
TI: Interhemispheric integration of simple visuomotor responses in patients with partial callosal defects.
AU: Tassinari-G; Aglioti-S; Pallini-R; Berlucchi-G; Rossi-GF
AD: Istituto di Fisiologia Umana, Universita di Verona, Italy.
SO: Behav-Brain-Res. 1994 Oct 20; 64(1-2): 141-9
ISSN: 0166-4328
PY: 1994
LA: ENGLISH
CP: NETHERLANDS
AB: Because of the organization of visual and motor pathways, simple manual responses to a light stimulus in the right or left visual hemifields are performed faster with uncrossed hand-field combinations than with crossed hand-field combinations. Uncrossed responses can be integrated within a single hemisphere, whereas crossed responses require a time-consuming interhemispheric transfer via the corpus callosum which is reflected in the difference between crossed and uncrossed reaction times. We investigated crossed-uncrossed differences (CUDs) in speed of simple visuomotor responses to lateralized flashes in seven subjects with an anterior section of the corpus callosum sparing the splenium and in one subject with an agenetic absence of the splenium due to a cerebrovascular malformation. There was no evidence of an abnormal prolongation of the CUDs in any of these subjects, in sharp contrast with the very long CUDs exhibited by an epileptic subject with a complete callosal section and two subjects with total callosal agenesis tested in the same experimental situation [1]. The normality of the CUDs in the subjects with partial callosal defects was not due to a postoperatory reorganization of interhemispheric communication, since there was no indication of an increased CUD in a patient tested as early as 5 days after the anterior callosotomy. These results are compatible with the assumption that both anterior and posterior callosal routes may subserve the integration of speeded manual responses to a visual stimulus directed to the hemisphere ipsilateral to the responding hand.
MESH: Adult-; Brain-Mapping; Cerebral-Arteriovenous-Malformations-physiopathology; Cerebral-Arteriovenous-Malformations-surgery; Corpus-Callosum-abnormalities; Corpus-Callosum-surgery; Epilepsy-physiopathology; Epilepsy-surgery; Middle-Age; Postoperative-Complications-physiopathology; Reference-Values; Visual-Pathways-physiopathology
MESH: *Attention-physiology; *Corpus-Callosum-physiopathology; *Dominance,-Cerebral-physiology; *Laterality-physiology; *Psychomotor-Performance-physiology; *Reaction-Time-physiology
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 95142915
UD: 9505
MEDLINE EXPRESS (R) 1/95-8/95 10 of 144
TI: Interhemispheric control of manual motor activity.
AU: Geffen-GM; Jones-DL; Geffen-LB
AD: Department of Psychology, University of Queensland, Brisbane, Australia.
SO: Behav-Brain-Res. 1994 Oct 20; 64(1-2): 131-40
ISSN: 0166-4328
PY: 1994
LA: ENGLISH
CP: NETHERLANDS
AB: The interhemispheric control of manual motor processes is reviewed, focusing on the clinical evidence from patients with commissurotomies and with agenesis of the corpus callosum. There is little evidence for a role of the corpus callosum in transferring explicit motor commands. Rather, the corpus callosum seems important for transferring lateralised information (such as verbal or visuospatial activity) of the pre-motor variety. Also, the corpus callosum may become very significant when movement begins: there appears to be a transcallosal passage of corollary motor signals and feedback sensory signals that are used to control asychronous bimanual movements and to inhibit the opposite hemisphere from interfering when a simple unimanual movement is required.
MESH: Brain-Mapping; Feedback-physiology; Neural-Pathways-physiology
MESH: *Attention-physiology; *Corpus-Callosum-physiology; *Dominance,-Cerebral-physiology; *Laterality-physiology; *Psychomotor-Performance-physiology
TG: Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 95142914
UD: 9505
MEDLINE EXPRESS (R) 1/95-8/95 11 of 144
TI: A new hybrid mouse model for agenesis of the corpus callosum.
AU: Wahlsten-D; Schalomon-PM
AD: Department of Psychology, University of Alberta, Edmonton, Canada.
SO: Behav-Brain-Res. 1994 Oct 20; 64(1-2): 111-7
ISSN: 0166-4328
PY: 1994
LA: ENGLISH
CP: NETHERLANDS
AB: A three locus model of the inheritance of absent corpus callosum in mice was tested by creating F1 and F2 hybrid crosses from the strains BALB/cWah1 and 129/J which show incomplete penetrance for callosal agenesis. The model predicted that a few of the F2 hybrid mice would suffer severe reduction of the hippocampal commissure when the corpus callosum was absent, a condition that usually occurs only in the most consistently acallosal I/LnJ strain, and this prediction was confirmed. The C129F2 hybrid population expresses substantial genetic variation and an extremely wide range of defects of the corpus callosum, dorsal commissure of the fornix and hippocampal commissure. At the same time, these hybrids have exceptionally good health and reproductive performance, unlike their inbred parent strains. These characteristics make them ideal subjects for the study of brain-behaviour correlation using a noninvasive method.
MESH: Brain-Mapping; Corpus-Callosum-pathology; Crosses,-Genetic; Dominance,-Cerebral-genetics; Dominance,-Cerebral-physiology; Hippocampus-pathology; Mice-; Pregnancy-; Variation-Genetics
MESH: *Corpus-Callosum-abnormalities; *Hybridization-; *Mice,-Inbred-BALB-C-genetics; *Mice,-Neurologic-Mutants-genetics
TG: Animal; Female; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 95142912
UD: 9505
MEDLINE EXPRESS (R) 1/95-8/95 12 of 144
TI: Ipsilateral motor control of the forelimb in the congenitally acallosal mouse.
AU: Nakatsuka-Y; Watanabe-M; Murakami-TH; Negi-T; Itano-T; Shimada-M
AD: Department of Anatomy, Osaka Medical College, Japan.
SO: Neuroscience. 1994 Sep; 62(2): 507-14
ISSN: 0306-4522
PY: 1994
LA: ENGLISH
CP: ENGLAND
AB: The corticospinal projections of mice with callosal agenesis were investigated using electro-physiological and horseradish peroxidase techniques. In the normal mouse, intracortical stimulation of the motor area with the microelectrode resulted in contralateral contraction of the forelimb, whereas ipsilateral contraction was observed in the acallosal mouse. Hence, mice with congenital absence of the corpus callosum show physiologically ipsilateral motor control. Furthermore, latency of the forelimb contraction elicited by electrical stimulation of the acallosal mouse was slightly shorter than that of the normal mouse. On the other hand, it was confirmed by a horseradish peroxidase technique that the corticospinal tract and peripheral motor neurons in the spinal cord of the acallosal mouse were identical to those of the normal mouse.
MESH: Axoplasmic-Flow; Electric-Stimulation; Forelimb-innervation; Horseradish-Peroxidase; Laterality-; Medulla-Oblongata-anatomy-and-histology; Mice-; Mice,-Mutant-Strains; Nerve-Fibers-physiology; Nerve-Fibers-ultrastructure; Reference-Values; Spinal-Cord-anatomy-and-histology; Spinal-Cord-physiology
MESH: *Corpus-Callosum-abnormalities; *Medulla-Oblongata-physiology; *Motor-Activity
TG: Animal; Comparative-Study; Female; Male
PT: JOURNAL-ARTICLE
RN: EC 1.11.1.-
NM: Horseradish-Peroxidase
AN: 95132154
UD: 9504
MEDLINE EXPRESS (R) 1/95-8/95 13 of 144
TI: DK-phocomelia syndrome in a child with a long follow-up.
AU: Urioste-M; Paisan-L; Martinez-Frias-ML
AD: ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
SO: Am-J-Med-Genet. 1994 Sep 1; 52(3): 269-71
ISSN: 0148-7299
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: We report on an 8-year-old boy with a pattern of multiple congenital anomalies that strongly suggest DK-phocomelia syndrome. Birth findings included bilateral upper limb amelia, occipital encephalocele, agenesis of the corpus callosum, right auricular tag, scoliosis, small penis, and cryptorchidism. Dental malocclusion was observed in the follow-up. This is the first case with on 8-year follow-up report of DK-phocomelia syndrome.
MESH: Child-; Corpus-Callosum-abnormalities; Cryptorchidism-complications; Ectromelia-complications; Encephalocele-complications; Penis-abnormalities; Scoliosis-complications; Syndrome-; Time-Factors
MESH: *Abnormalities,-Multiple-pathology; *Ectromelia-pathology
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 95109561
UD: 9504
MEDLINE EXPRESS (R) 1/95-8/95 14 of 144
TI: Complex sensory cross integration deficits in a case of corpus callosum agenesis with bilateral language representation: positron-emission-tomography and neuropsychological findings.
AU: Kessler-J; Huber-M; Pawlik-G; Heiss-WD; Markowitsch-HJ
AD: Max-Planck-Institute for Neurological Research and Neurological Clinic, University of Cologne, Germany.
SO: Int-J-Neurosci. 1991 Jun; 58(3-4): 275-82
ISSN: 0020-7454
PY: 1991
LA: ENGLISH
CP: ENGLAND
AB: A 45-year-old right-handed patient with total callosal agenesis and absence of the anterior commissure was examined neuropsychologically and with magnetic resonance and positron emission tomography (PET with 18FDG) of the brain. PET results showed, in the resting state, a bilateral metabolic reduction in the hippocampal formation and a left hemispheric reduction in the amygdala, thalamus and in the occipital and temporoparietal junction areas of the cerebral cortex. Under speech activation hypermetabolic glucose activity was observed bilaterally in the region of the Wernicke area and within the left Broca area. Neuropsychologically, on the whole the patient behaved normally, the exceptions being an inability to associate olfactory stimuli with words, a clear left ear advantage in dichotic listening, and a similar high performance in recognizing verbal stimuli presented tachistoscopically to either hemisphere. From comparing the patient's behavior with that of other acallosals it appears that highly individual variants of cerebral organization and/or reorganization result from the lack of the brain's main commissural system and that the processing of sensory information deviates considerably especially in cases in whom the two main telencephalic commissures--corpus callosum and anterior commissure--are absent.
MESH: Brain-metabolism; Cognition-; Dichotic-Listening-Tests; Hippocampus-metabolism; Magnetic-Resonance-Imaging; Middle-Age; Neuropsychological-Tests; Smell-physiology
MESH: *Brain-abnormalities; *Brain-radionuclide-imaging; *Corpus-Callosum; *Language-; *Laterality-; *Tomography,-Emission-Computed
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 95088076
UD: 9503
MEDLINE EXPRESS (R) 1/95-8/95 15 of 144
TI: Agenesis of corpus callosum and dementia of the Alzheimer's type: a review and case report.
AU: Rasgon-N; Ananth-J; Mena-I; Krout-B; Boone-K
AD: Harbor-UCLA Medical Center, Torrance.
SO: Can-J-Psychiatry. 1994 Sep; 39(7): 429-32
ISSN: 0706-7437
PY: 1994
LA: ENGLISH
CP: CANADA
AB: This paper describes a previously sufficiently functioning 57 year old man who presented with a recent onset of frontal behaviour. Partial agenesis of corpus callosum was an incidental finding on a computerized tomography scan. The EEG was within normal limits and neuropsychological testing did not reveal any interhemispheric disconnection. A SPECT-Scan revealed bilateral hypoperfusion, consistent with Alzheimer's dementia. Normal functioning up to 50 years of age and a later manifestation of Alzheimer's disease along with agenesis of carpus callosum is of clinical interest as such an association has not been published.
MESH: Alzheimer's-Disease-psychology; Cerebral-Cortex-blood-supply; Dominance,-Cerebral-physiology; Electroencephalography-; Magnetic-Resonance-Imaging; Middle-Age; Neuropsychological-Tests; Regional-Blood-Flow-physiology; Tomography,-Emission-Computed,-Single-Photon; Tomography,-X-Ray-Computed
MESH: *Alzheimer's-Disease-diagnosis; *Corpus-Callosum-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 95079363
UD: 9503
MEDLINE EXPRESS (R) 1/95-8/95 16 of 144
TI: The 48,XXYY syndrome: a case detected by maternal serum alpha-fetoprotein screening.
AU: Nyberg-RH; Karhu-R; Karikoski-R; Simola-KO
AD: Department of Clinical Genetics, Tampere University Hospital, Finland.
SO: Prenat-Diagn. 1994 Jul; 14(7): 644-5
ISSN: 0197-3851
PY: 1994
LA: ENGLISH
CP: ENGLAND
AB: A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features.
MESH: Abortion,-Induced; Adolescence-; Amniocentesis-; Corpus-Callosum-abnormalities; Karyotyping-; Mental-Retardation-genetics; Pregnancy-; X-Chromosome; Y-Chromosome
MESH: *alpha-Fetoproteins-analysis; *Prenatal-Diagnosis; *Sex-Chromosome-Abnormalities-diagnosis
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
RN: 0
NM: alpha-Fetoproteins
AN: 95061944
UD: 9502
MEDLINE EXPRESS (R) 1/95-8/95 17 of 144
TI: Control of proximal and distal components of prehension in callosal agenesis.
AU: Jakobson-LS; Servos-P; Goodale-MA; Lassonde-M
AD: Department of Psychology, Queen's University, Kingston, Ontario, Canada.
SO: Brain. 1994 Oct; 117 ( Pt 5): 1107-13
ISSN: 0006-8950
PY: 1994
LA: ENGLISH
CP: ENGLAND
AB: Classic work with split-brain monkeys suggests that the reaching limb can be controlled by either cerebral hemisphere, but that finger control is largely crossed (Haaxma and Kuypers, 1974). Accordingly, one might predict that acallosal subjects should have little difficulty grasping objects presented in the visual field ipsilateral to the hand used, but should have great difficulty forming their grasp when reaching into crossed space. In the present study, we carried out a kinematic analysis of reaching and grasping movements executed by four acallosal subjects and four matched control subjects. Subjects maintained central fixation while reaching with either hand for objects placed in left, central and right space. Relative to controls, acallosal subjects took longer to complete reaches directed across the body midline, and spent more time decelerating. Moreover, unlike controls, their grip formation appeared to be impaired in all regions of space, although this deficit was most pronounced during reaches into crossed space. These results suggest that congenital absence of the corpus callosum is associated with deficits in the control of both the proximal and distal musculature.
MESH: Adolescence-; Adult-; Laterality-; Motor-Cortex-physiology; Visual-Cortex-physiology
MESH: *Arm-physiology; *Corpus-Callosum-abnormalities; *Fingers-physiology; *Hand-Strength-physiology; *Movement-; *Spatial-Behavior-physiology
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 95041394
UD: 9502
SB: AIM
MEDLINE EXPRESS (R) 1990-1994 18 of 144
TI: The persisting mesonephric duct syndrome in a neonate with agenesis of the corpus callosum.
AU: Shental-J; Katz-Z; Reich-D
AD: Department of Urology, Central Emek Hospital, Afula, Israel.
SO: J-Urol. 1994 Nov; 152(5 Pt 1): 1590-1
ISSN: 0022-5347
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: Agenesis of the corpus callosum is a rare condition, often associated with craniofacial, skeletal and genitourinary abnormalities. We report on a male newborn in whom all of these organ systems were affected. The genitourinary anomaly consisted of vaso-ureteral fusion accompanied by renal, ureteral, vesical, ductal and genital malformations. The diagnostic approach and management of this unusual case are described and the literature is reviewed.
MESH: Infant,-Newborn
MESH: *Abnormalities,-Multiple; *Corpus-Callosum-abnormalities; *Mesonephros-; *Urinary-Tract-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 95018756
UD: 9501
SB: AIM
MEDLINE EXPRESS (R) 1990-1994 19 of 144
TI: Interhemispheric transfer in children with early-treated phenylketonuria.
AU: Gourovitch-ML; Craft-S; Dowton-SB; Ambrose-P; Sparta-S
AD: Washington University, Department of Pediatrics, St. Louis, MO 63130.
SO: J-Clin-Exp-Neuropsychol. 1994 Jun; 16(3): 393-404
ISSN: 0168-8634
PY: 1994
LA: ENGLISH
CP: NETHERLANDS
AB: Phenylketonuria (PKU) is a genetic disorder of amino acid metabolism that is associated with brain catecholamine depletion and deficient myelination. Although neuropsychological deficits have been documented in children with early-treated PKU (ETPKU), no study to date has examined possible effects of impaired myelination in this population. In the present study, interhemispheric transfer time was assessed for 14 children with ETPKU, 22 children with attention deficit-hyperactivity disorder, and 48 normal children, using a manual reaction time paradigm previously validated with callosal agenesis patients (Milner, 1982). Children with ETPKU demonstrated slowed interhemispheric transfer from the left to the right hemisphere as compared with the two other groups. The magnitude of slowing was correlated with age and phenylalanine levels at birth. Results support the hypothesis that abnormal myelination disrupts the development of interhemispheric connections in ETPKU, and suggest that left hemisphere projections may be particularly susceptible to such disruption.
MESH: Adolescence-; Attention-Deficit-Disorder-with-Hyperactivity-physiopathology; Brain-Damage,-Chronic-diet-therapy; Child-; Corpus-Callosum-physiopathology; Follow-Up-Studies; Intelligence-physiology; Nerve-Fibers,-Myelinated-physiology; Phenylalanine-administration-and-dosage; Phenylketonuria-diet-therapy; Psychomotor-Performance-physiology; Reaction-Time-physiology; Reference-Values
MESH: *Brain-Damage,-Chronic-physiopathology; *Dominance,-Cerebral-physiology; *Phenylketonuria-physiopathology; *Transfer-Psychology
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: 3617-44-5
NM: Phenylalanine
AN: 95014878
UD: 9501
MEDLINE EXPRESS (R) 1990-1994 20 of 144
TI: Formation and lateralization of internal representations underlying motor commands during precision grip.
AU: Gordon-AM; Forssberg-H; Iwasaki-N
AD: Nobel Institute for Neurophysiology, Karolinska Institute, Stockholm, Sweden.
SO: Neuropsychologia. 1994 May; 32(5): 555-68
ISSN: 0028-3932
PY: 1994
LA: ENGLISH
CP: ENGLAND
AB: The capability to store and retrieve weight-related information from a lift to scale the force output during a subsequent lift was examined in 10 healthy adults and 50 children (age 2-10 years), as well as a 22-year-old patient with corpus callosum agenesis. Subjects lifted a test object between the thumb and index finger while the isometric fingertip forces were measured. The results suggest that both healthy children and adults can transfer weight-related information between the right and left hand, although a lateralization was found. Also, the storage and retrieval of weight-related information appears to be a dynamic process dependent on both previous sensory information and knowledge of future movements. Late maturation of interhemispheric connections and asymmetric loss of some information during the transfer between hemispheres suggest a lateralization of the internal representation. The patient with a corpus callosum agenesis supported this hypothesis.
MESH: Adolescence-; Adult-; Age-Factors; Attention-physiology; Child-; Child,-Preschool; Corpus-Callosum-physiopathology; Reference-Values; Serial-Learning-physiology; Weight-Perception-physiology; Weight-Bearing-physiology
MESH: *Corpus-Callosum-abnormalities; *Dominance,-Cerebral-physiology; *Imagination-physiology; *Isometric-Contraction-physiology; *Kinesthesis-physiology; *Laterality-physiology
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 94366522
UD: 9412
MEDLINE EXPRESS (R) 1990-1994 21 of 144
TI: Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies.
AU: Courtens-W; Petersen-MB; Noel-JC; Flament-Durand-J; Van-Regemorter-N; Delneste-D; Cochaux-P; Verschraegen-Spae-MR; Van-Roy-N; Speleman-F; et-al
AD: Laboratory of Cytogenetics, Brugmann University Hospital, Brussels, Belgium.
SO: Am-J-Med-Genet. 1994 Jul 1; 51(3): 260-5
ISSN: 0148-7299
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: Foetal blood sampling was performed at 35 weeks of gestation due to abnormal foetal ultrasound findings. There was apparent monosomy 21 (45,XX,-21) in all mitoses analyzed. The infant died at 37 weeks during delivery. Examination disclosed facial anomalies, clubfeet, hypoplasia of the left urogenital tract, agenesis of corpus callosum, ventricular dilatation, and heterotopias. Reevaluation of the karyotype showed an unbalanced translocation t(1;21) (q44;q22.11) which resulted from a maternal balanced translocation. These findings were confirmed by fluorescence in situ hybridization and molecular studies with chromosome 21 specific markers. The latter showed a proximal deletion of the maternally derived chromosome 21 including all loci from centromere down to the D21S210 locus. This case illustrates the need for complementary cytogenetic and molecular investigations in cases of apparent monosomy 21.
MESH: Chromosome-Banding; Corpus-Callosum-abnormalities; Fatal-Outcome; Genitalia,-Female-abnormalities; In-Situ-Hybridization,-Fluorescence; Infant,-Newborn; Karyotyping-; Translocation-Genetics; Urinary-Tract-abnormalities
MESH: *Abnormalities,-Multiple-genetics; *Chromosome-Deletion; *Chromosomes,-Human,-Pair-1; *Chromosomes,-Human,-Pair-21
TG: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 94354234
UD: 9412
MEDLINE EXPRESS (R) 1990-1994 22 of 144
TI: US case of the day. Dandy-Walker variant with agenesis of the corpus callosum.
AU: Wilson-ME; Lindsay-DJ; Levi-CS; Ackerman-TE; Gordon-WL
AD: Section of Diagnostic Ultrasound, Health Sciences Centre, Winnipeg, Manitoba, Canada.
SO: Radiographics. 1994 May; 14(3): 678-81
ISSN: 0271-5333
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
MESH: Adult-; Corpus-Callosum-radiography; Gestational-Age; Infant,-Newborn; Pregnancy-; Tomography,-X-Ray-Computed
MESH: *Corpus-Callosum-abnormalities; *Dandy-Walker-Syndrome-ultrasonography; *Echoencephalography-; *Fetal-Diseases-ultrasonography; *Ultrasonography,-Prenatal
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 94345195
UD: 9411
MEDLINE EXPRESS (R) 1990-1994 23 of 144
TI: Corpus callosum agenesis and epilepsy: PET findings.
AU: Khanna-S; Chugani-HT; Messa-C; Curran-JG
AD: Department of Radiological Sciences, University of California at Los Angeles School of Medicine.
SO: Pediatr-Neurol. 1994 May; 10(3): 221-7
ISSN: 0887-8994
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: Positron emission tomography (PET) with 2-deoxy-2[18F]fluoro-D-glucose (FDG) was used to study 9 children who demonstrated complete or partial agenesis of the corpus callosum (ACC) on magnetic resonance imaging (MRI). Of the 7 patients with epilepsy, FDG-PET clearly localized areas of cortical metabolic abnormality in 6 patients; in 5 of these, localization of the metabolic abnormalities on PET corresponded to electroencephalographic localization of epileptogenicity. MRI documented focal cortical abnormalities in only 2 of the 7 children with epilepsy. In 1 patient, the abnormality observed on MRI was confined to a frontal lobe, whereas the FDG-PET study revealed hypometabolism of the entire hemisphere. One patient with infantile spasms exhibited bilateral multifocal epileptiform discharges on electroencephalography, whereas both the PET and MRI revealed only left hemispheral cortical abnormalities. Another patient with infantile spasms had prominent brainstem glucose metabolic activity on FDG-PET in the absence of any MRI or PET cortical abnormality. Two children underwent surgery because of refractory seizures; the resected cortical tissue in both patients consisted of cortical microdysgenesis. Seizure control improved significantly in both patients. FDG-PET studies in the 2 highest functioning patients (i.e., only minor learning disabilities and no epilepsy) did not reveal any focal cortical hypometabolism; therefore, there appears to be an association between the presence of focal metabolic abnormalities on PET and the presence of seizures in ACC patients.(ABSTRACT TRUNCATED AT 250 WORDS)
MESH: Blood-Glucose-metabolism; Cerebral-Cortex-abnormalities; Cerebral-Cortex-physiopathology; Cerebral-Cortex-radionuclide-imaging; Child-; Child,-Preschool; Corpus-Callosum-physiopathology; Corpus-Callosum-radionuclide-imaging; Deoxyglucose-analogs-and-derivatives; Deoxyglucose-diagnostic-use; Dominance,-Cerebral-physiology; Electroencephalography-; Epilepsy-physiopathology; Evoked-Potentials-physiology; Hippocampus-abnormalities; Hippocampus-physiopathology; Hippocampus-radionuclide-imaging; Infant-; Spasms,-Infantile-physiopathology; Spasms,-Infantile-radionuclide-imaging
MESH: *Corpus-Callosum-abnormalities; *Epilepsy-radionuclide-imaging; *Tomography,-Emission-Computed
TG: Female; Human; Male; Support,-U.S.-Gov't,-Non-P.H.S.; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
CN: 2PO1NS1565413NSNINDS
RN: 0; 154-17-6; 29702-43-0
NM: Blood-Glucose; Deoxyglucose; fludeoxyglucose-F-18
AN: 94338460
UD: 9411
MEDLINE EXPRESS (R) 1990-1994 24 of 144
TI: X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus.
AU: Berry-Kravis-E; Israel-J
AD: Department of Pediatrics, RUSH-Presbyterian-St Luke's Medical Center, Chicago, IL 60612.
SO: Ann-Neurol. 1994 Aug; 36(2): 229-33
ISSN: 0364-5134
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: A family of 5 affected male infants in 2 generations with an X-linked pattern of inheritance is described. All affected infants manifested intractable seizures, severe psychomotor retardation, growth failure, microphallus, and death during infancy. Three of the affected patients had radiological studies that demonstrated findings consistent with pachygyria-agyria and agenesis of the corpus callosum. We believe that this family represents a form of X-linked pachygyria-agyria (lissencephaly) that has not been described previously and suggests a locus for lissencephaly on the X chromosome.
MESH: Brain-pathology; Infant-; Linkage-Genetics; Mental-Retardation-genetics; Pedigree-; Seizures-genetics; Translocation-Genetics
MESH: *Brain-abnormalities; *Corpus-Callosum-abnormalities; *X-Chromosome
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 94330694
UD: 9411
MEDLINE EXPRESS (R) 1990-1994 25 of 144
TI: Corpus callosum agenesis in Coffin-Lowry syndrome.
AU: Soekarman-D; Fryns-JP
AD: Centre for Human Genetics, University of Leuven, Belgium.
SO: Genet-Couns. 1994; 5(1): 77-80
ISSN: 1015-8146
PY: 1994
LA: ENGLISH
CP: SWITZERLAND
AB: We describe a boy with the syndrome of Coffin-Lowry whose CT-scan showed corpus callosum agenesis. Follow-up data are given and diagnostic considerations are discussed. A review is given of the CNS-malformations so far reported in patients with the syndrome of Coffin-Lowry.
MESH: Abnormalities,-Multiple-diagnosis; Child,-Preschool; Corpus-Callosum-pathology; Follow-Up-Studies; Mental-Retardation-diagnosis; Neurologic-Examination; Scoliosis-diagnosis; Sex-Chromosome-Abnormalities-diagnosis; Syndrome-; Tomography,-X-Ray-Computed
MESH: *Abnormalities,-Multiple-genetics; *Corpus-Callosum-abnormalities; *Mental-Retardation-genetics; *Scoliosis-genetics; *Sex-Chromosome-Abnormalities-genetics; *X-Chromosome
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 94304584
UD: 9410
MEDLINE EXPRESS (R) 1990-1994 26 of 144
TI: Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.
AU: Digilio-MC; Giannotti-A; Floridia-G; Uccellatore-F; Mingarelli-R; Danesino-C; Dallapiccola-B; Zuffardi-O
AD: Dipartimento di Genetica Medica, IRCCS Ospedale Bambin Gesu, Roma, Italy.
SO: J-Med-Genet. 1994 Mar; 31(3): 238-41
ISSN: 0022-2593
PY: 1994
LA: ENGLISH
CP: ENGLAND
AB: Two patients with trisomy 8 syndrome owing to an isodicentric 8p;8p chromosome are described. Case 1 had a 46,XX/46,XX,-8,+idic(8)(p23) karyotype while case 2, a male, had the same abnormal karyotype without evidence of mosaicism. In situ hybridisation, performed in case 1, showed that the isochromosome was asymmetrical. Agenesis of the corpus callosum (ACC), which is a feature of trisomy 8 syndrome, was found in both patients. Although ACC is associated with aneuploidies for different chromosomes, a review of published reports indicates that, when associated with chromosome 8, this defect is the result of duplication of a gene located within 8p21-pter. Molecular analysis in one of our patients led us to exclude the distal 23 Mb of 8p from this ACC region.
MESH: Chromosome-Mapping; Heart-Defects,-Congenital-genetics; Infant,-Newborn; Mosaicism-; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Chromosome-Abnormalities-genetics; *Chromosomes,-Human,-Pair-8; *Corpus-Callosum-abnormalities; *Trisomy-
TG: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
GS: ACC-8
PT: JOURNAL-ARTICLE
AN: 94285197
UD: 9409
MEDLINE EXPRESS (R) 1990-1994 27 of 144
TI: Delineation of the da-Silva syndrome.
AU: Naritomi-K; Tohma-T; Goya-Y; Shiroma-N; Hirayama-K
AD: Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
SO: Am-J-Med-Genet. 1994 Feb 1; 49(3): 313-6
ISSN: 0148-7299
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: We present a 6-month-old boy with agenesis of the corpus callosum, hypertonicity, severe growth and psychomotor retardation, microcephaly, large prominent ears, and delayed bone age. Similarity of his manifestations to these in 3 sibs described by da-Silva in 1988 suggests initial delineation of the da-Silva syndrome.
MESH: Child-; Ear,-External-abnormalities; Growth-Disorders-genetics; Infant-; Phenotype-; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Corpus-Callosum-abnormalities; *Mental-Retardation-genetics; *Microcephaly-genetics
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 94270381
UD: 9409
MEDLINE EXPRESS (R) 1990-1994 28 of 144
TI: A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay.
AU: Braddock-SR; Carey-JC
AD: University of Utah, Department of Pediatrics, Salt Lake City 84132.
SO: Clin-Dysmorphol. 1994 Jan; 3(1): 75-81
ISSN: 0962-8827
PY: 1994
LA: ENGLISH
CP: ENGLAND
AB: We present two female children with a distinctive pattern of malformation, including persistent thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. We feel that these findings constitute a heretofore undescribed syndrome. Patient 1 presented during the newborn period with thrombocytopenia, Robin cleft, distinctive facies and agencies of the corpus callosum. Her thrombocytopenia has been persistent. Bone marrow aspirate showed adequate megakaryocytes. On follow-up she has mental retardation, microcephaly, growth delay and enamel hypoplasia. Patient 2 was also noted during the newborn period to have the Robin sequence, agenesis of the corpus callosum, a similar face to case 1 and persistent thrombocytopenia. Bone marrow aspirate showed decreased megakaryocytes. She also had delayed development, short stature, microcephaly and enamel hypoplasia. The combination of the Robin cleft, congenital onset of persistent thrombocytopenia and enamel hypoplasia appears particularly unique in combination. The aetiopathogenesis of this condition is unknown.
MESH: Infant,-Newborn; Syndrome-
MESH: *Abnormalities,-Multiple-diagnosis; *Child-Development-Disorders-diagnosis; *Cleft-Palate-diagnosis; *Corpus-Callosum-abnormalities; *Face-abnormalities; *Thrombocytopenia-congenital
TG: Case-Report; Comparative-Study; Female; Human
PT: JOURNAL-ARTICLE
AN: 94264923
UD: 9409
MEDLINE EXPRESS (R) 1990-1994 29 of 144
TI: Episodic spontaneous hypothermia with hyperhidrosis: implications for pathogenesis.
AU: Sheth-RD; Barron-TF; Hartlage-PL
AD: Division of Pediatrics (Neurology), Memorial University of Newfoundland, Canada.
SO: Pediatr-Neurol. 1994 Feb; 10(1): 58-60
ISSN: 0887-8994
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: Unprovoked hypothermia is an unusual presenting sign. When occurring with diaphoresis it has been referred to as episodic spontaneous hypothermia with hyperhidrosis. Earlier reports described episodic, spontaneous hypothermia with hyperhidrosis in patients with agenesis of the corpus callosum and postulated a midline congenital malformation of the central nervous system. Since then, various endocrine, electrolyte, autonomic, and sleep disturbances have been described but the etiology remains undetermined. Three unrelated children are reported each of whom had an intact corpus callosum and normal endocrine function. Shivering was consistently absent despite marked symptomatic hypothermia. One child had spontaneous resolution of episodic spontaneous hypothermia with hyperhidrosis and two children responded to the antiserotonergic, cyproheptadine. It is hypothesized that specific serotonergic dysfunction in the anterior hypothalamic extrapyramidal shivering mechanism is central in the pathogenesis of this condition.
MESH: Body-Temperature-Regulation-physiology; Child-; Child,-Preschool; Corpus-Callosum-physiopathology; Cyproheptadine-therapeutic-use; Extrapyramidal-Tracts-drug-effects; Extrapyramidal-Tracts-physiopathology; Hyperhidrosis-drug-therapy; Hyperhidrosis-physiopathology; Hypothalamus,-Anterior-drug-effects; Hypothalamus,-Anterior-physiopathology; Hypothermia-drug-therapy; Hypothermia-physiopathology; Preoptic-Area-physiopathology; Serotonin-physiology; Shivering-physiology
MESH: *Hyperhidrosis-etiology; *Hypothermia-etiology
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
RN: 129-03-3; 50-67-9
NM: Cyproheptadine; Serotonin
AN: 94257077
UD: 9409
MEDLINE EXPRESS (R) 1990-1994 30 of 144
TI: Reverse Shapiro's syndrome. A case of agenesis of corpus callosum associated with periodic hyperthermia.
AU: Hirayama-K; Hoshino-Y; Kumashiro-H; Yamamoto-T
AD: Department of Neurology, Medical College, Fukushima, Japan.
SO: Arch-Neurol. 1994 May; 51(5): 494-6
ISSN: 0003-9942
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: OBJECTIVE: Investigation of the mechanism of the idiopathic periodic hyperthermia associated with agenesis of the corpus callosum. SETTING: Tertiary care referral center. PATIENT: Fourteen-year-old girl who was the first case of reverse Shapiro's syndrome (ie, agenesis of the corpus callosum associated with periodic hyperthermia, as opposed to hypothermia as described in the original report by Shapiro et al). INTERVENTION: Magnetic resonance imaging scans, endocrinological examinations for hypothalamus, electroencephalograms, and levodopa therapy. MAIN OUTCOME MEASURE: Body temperature. RESULT: No neurologic or physical abnormalities were noted beside the callosal agenesis. Neuroimaging examinations could not reveal any structural abnormality of the diencephalon. Endocrinological examinations and electroencephalograms were found to be normal. The hyperthermia returned to normal by a small dose of levodopa, but a larger dose reversed the hyperthermia to hypothermia. CONCLUSIONS: These observations suggest that the hyperthermia observed in this case may have been caused by the dopaminergic denervation of the hypothalamic thermoregulatory center, resulting in the supersensitivity of its dopaminergic receptors.
MESH: Adolescence-; Corpus-Callosum-pathology; Syndrome-
MESH: *Corpus-Callosum-abnormalities; *Fever-diagnosis
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 94234907
UD: 9408
SB: AIM
MEDLINE EXPRESS (R) 1990-1994 31 of 144
TI: Lower interhemispheric coherence in a case of agenesis of the corpus callosum.
AU: Nagase-Y; Terasaki-O; Okubo-Y; Matsuura-M; Toru-M
AD: Department of Neuropsychiatry, Tokyo Medical and Dental University School of Medicine, Japan.
SO: Clin-Electroencephalogr. 1994 Jan; 25(1): 36-9
ISSN: 0009-9155
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: Interhemispheric coherence and relative power were compared in a patient with total agenesis of the corpus callosum and age and sex matched controls. The patient showed lower interhemispheric coherence than normal controls in F3-F4, C3-C4, and in P3-P4 especially in the higher theta, lower alpha, and beta bands. Differences in relative power were much less marked. These results seem to reflect that interhemispheric connection is degraded because of callosal agenesis.
MESH: Adolescence-; Brain-Diseases-diagnosis; Cerebral-Cortex-physiopathology; Corpus-Callosum-physiopathology; Cysts-diagnosis; Magnetic-Resonance-Imaging; Neural-Pathways-physiopathology; Neuropsychological-Tests; Reference-Values
MESH: *Brain-Diseases-physiopathology; *Corpus-Callosum-abnormalities; *Cysts-physiopathology; *Dominance,-Cerebral-physiology; *Electroencephalography-
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 94228731
UD: 9408
MEDLINE EXPRESS (R) 1990-1994 32 of 144
TI: Retarded growth of the medial septum: a major gene effect in acallosal mice.
AU: Wahlsten-D; Bulman-Fleming-B
AD: Department of Psychology, University of Alberta, Edmonton, Canada.
SO: Brain-Res-Dev-Brain-Res. 1994 Feb 18; 77(2): 203-14
ISSN: 0165-3806
PY: 1994
LA: ENGLISH
CP: NETHERLANDS
AB: Absence of the corpus callosum is a hereditary brain defect that appears with varying severity in four inbred mouse strains and is the result of more than one major genetic locus. If relatively few, perhaps two or three, loci are involved in the prenatal ontogeny of the abnormal corpus callosum, it should be possible to identify a distinct morphological process which shows a major gene effect. Because available evidence suggests the source of callosal agenesis occurs in the substrates of axon guidance near the midsagittal plane rather than in the axons themselves, morphometric analysis was done for sagittal sections of the medial septal region in embryos of normal hybrids and four acallosal strains. The anterodorsal zone of the medial septum subadjacent to the cavum septi grew much slower in acallosal BALB/c and I/LnJ mice whereas the ventral septal region was apparently normal. In the Bailey recombinant inbred strains derived from an acallosal BALB/c progenitor, one recombinant (CXBG/By) closely resembled BALB/c whereas the others resembled the normal C57BL/6 parent strain. This pattern of results supports a major gene influence on fusion of the cerebral hemispheres near the region where the corpus callosum first crosses midplane over the dorsal septum.
MESH: Axons-physiology; Brain-cytology; Histocytochemistry-; Mice-; Mice,-Inbred-BALB-C; Mice,-Inbred-C57BL; Mice,-Inbred-Strains; Mice,-Neurologic-Mutants; Paraffin-Embedding; Pregnancy-; Recombination,-Genetic; Regression-Analysis; Species-Specificity
MESH: *Brain-abnormalities; *Brain-embryology; *Corpus-Callosum-abnormalities; *Corpus-Callosum-embryology
TG: Animal; Female; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 94228662
UD: 9408
MEDLINE EXPRESS (R) 1990-1994 33 of 144
TI: Hypoplasia of the corpus callosum: a study of 445 consecutive MRI scans.
AU: Bodensteiner-J; Schaefer-GB; Breeding-L; Cowan-L
AD: Department of Neurology, West Virginia University, Morgantown.
SO: J-Child-Neurol. 1994 Jan; 9(1): 47-9
ISSN: 0883-0738
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: The size of the corpus callosum was assessed visually and by computer-assisted image analysis in a series of 445 consecutive magnetic resonance imaging (MRI) scans in children under 17 years of age. Fifty individuals were subjectively identified with small corpora callosa on visual inspection of the MRI scans. Seven patients had true hypoplasia of the corpus callosum after comparing the computer-measured relative size of the structure to previously established normal values. Five additional patients had complete agenesis, and two had partial agenesis of the corpus callosum. The cognitive functional levels of the seven patients with callosal hypoplasia and a control group of 63 randomly selected individuals from the remainder of the group were ascertained by record review. Seventy-one percent of the patients with hypoplasia of the corpus callosum and 29% of the control group had impaired function. The P value determined by Fisher's exact test was P = .061, suggesting that further study with greater numbers may be warranted. The prevalence of mental retardation in this condition, and the fact that hypoplasia is as common as complete and partial agenesis of the corpus callosum combined, suggest that hypoplasia of the corpus callosum is a marker of cerebral dysgenesis that should be looked for in the appropriate clinical setting.
MESH: Child-; Child,-Preschool; Corpus-Callosum-radiography; Infant-; Infant,-Newborn; Magnetic-Resonance-Imaging; Mental-Retardation-etiology
MESH: *Corpus-Callosum-abnormalities
TG: Comparative-Study; Human
PT: CLINICAL-TRIAL; JOURNAL-ARTICLE; RANDOMIZED-CONTROLLED-TRIAL
AN: 94201518
UD: 9407
MEDLINE EXPRESS (R) 1990-1994 34 of 144
TI: Prognostic indicators in the prenatal diagnosis of agenesis of corpus callosum.
AU: Vergani-P; Ghidini-A; Strobelt-N; Locatelli-A; Mariani-S; Bertalero-C; Cavallone-M
AD: Department of Obstetrics and Gynecology, Ospedale S. Gerardo, University of Milan, Italy.
SO: Am-J-Obstet-Gynecol. 1994 Mar; 170(3): 753-8
ISSN: 0002-9378
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: OBJECTIVE: Our aim was to determine the accuracy of ultrasonography in the prenatal diagnosis of agenesis of the corpus callosum and to establish whether ultrasonography can provide prognostic indicators in cases of agenesis of the corpus callosum. STUDY DESIGN: Prospective ultrasonographic study of the corpus callosum in all cases during an 8-year period in which fetal cerebral ventriculomegaly was detected. RESULTS: A total of 14 cases of agenesis of the corpus callosum are reported. In seven cases agencies of the corpus callosum was an isolated finding, and in seven cases it was associated with other abnormalities. Six cases involved mendelian syndromes (3 Lissencephaly syndrome, 2 Aicardi syndrome, and 1 Andermann syndrome), and one case was associated with trisomy 13. In 5 of 14 fetuses, all male, agenesis of the corpus callosum was an isolated benign finding. The corpus callosum could never be visualized before midgestation, but diagnosis of agenesis of the corpus callosum was very accurate after 20 weeks. CONCLUSION: Prenatal ultrasonographic findings suggestive of agenesis of the corpus callosum should be followed by a careful search for associated anomalies that may indicate genetic syndromes. Isolated agenesis of the corpus callosum is often an isolated, benign finding, particularly in male fetuses. In families at risk for mendelian syndromes associated with agenesis of the corpus callosum, lack of visualization of this structure is suggestive of the diagnosis.
MESH: Chromosome-Abnormalities; Corpus-Callosum-ultrasonography; Pregnancy-; Prognosis-
MESH: *Corpus-Callosum-abnormalities; *Fetal-Diseases-ultrasonography; *Ultrasonography,-Prenatal
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 94189621
UD: 9406
SB: AIM
MEDLINE EXPRESS (R) 1990-1994 35 of 144
TI: The association of cleft lip and palate with Aicardi syndrome.
AU: Umansky-WS; Neidich-JA; Schendel-SA
AD: Division of Plastic and Reconstructive Surgery, Stanford University School of Medicine, Calif.
SO: Plast-Reconstr-Surg. 1994 Mar; 93(3): 595-7
ISSN: 0032-1052
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: In summary, Aicardi syndrome is defined by its tetrad of infantile spasms, agenesis of the corpus callosum, mental retardation, and chorioretinal lacunae. We report a case of Aicardi syndrome with associated cleft lip and palate. This is an infrequent finding that is present in approximately 3 percent of reported cases. Plastic surgeons should be aware of this association when treating patients with cleft lip and palate.
MESH: Brain-pathology; Choristoma-pathology; Infant-; Orbital-Neoplasms-pathology; Syndrome-
MESH: *Choroid-abnormalities; *Cleft-Lip-pathology; *Cleft-Palate-pathology; *Corpus-Callosum-pathology; *Mental-Retardation-pathology; *Retina-abnormalities; *Spasms,-Infantile-pathology
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 94159760
UD: 9406
SB: AIM
MEDLINE EXPRESS (R) 1990-1994 36 of 144
TI: Diabetes insipidus with impaired osmotic regulation in septo-optic dysplasia and agenesis of the corpus callosum.
AU: Masera-N; Grant-DB; Stanhope-R; Preece-MA
AD: Institute of Child Health, London.
SO: Arch-Dis-Child. 1994 Jan; 70(1): 51-3
ISSN: 0003-9888
PY: 1994
LA: ENGLISH
CP: ENGLAND
AB: The clinical and endocrinological findings in 24 children with septo-optic dysplasia and/or agenesis of the corpus callosum are described with particular reference to posterior pituitary function. Nine had diabetes insipidus. The prevalence of diabetes insipidus was similar in children with complete and incomplete forms of septo-optic dysplasia. Maintenance of normal osmotic balance was very difficult in six of these children, even after the introduction of treatment with vasopressin, either as desmopressin, or lysine vasopressin spray in one of the early cases.
MESH: Child-; Child,-Preschool; Diabetes-Insipidus-physiopathology; Infant-; Infant,-Newborn; Osmolar-Concentration; Pituitary-Gland-physiopathology; Retrospective-Studies; Syndrome-; Water-Electrolyte-Balance-physiology
MESH: *Abnormalities,-Multiple-physiopathology; *Corpus-Callosum-abnormalities; *Diabetes-Insipidus-complications; *Optic-Nerve-abnormalities; *Septum-Pellucidum-abnormalities
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 94153133
UD: 9405
SB: AIM
MEDLINE EXPRESS (R) 1990-1994 37 of 144
TI: The Aicardi syndrome. A case report and review of the literature.
AU: Altinbasak-S; Baytok-V; Yalaz-M; Onenli-N
AD: Department of Pediatric Neurology, Cukurova University Faculty of Medicine, Adana.
SO: Turk-J-Pediatr. 1993 Oct-Dec; 35(4): 305-12
ISSN: 0041-4301
PY: 1993
LA: ENGLISH
CP: TURKEY
AB: A case of Aicardi's syndrome is described. The main features described are infantile spasms, pathognomonic chorioretinal lacunar defects, agenesis of the corpus callosum, psychomotor retardation, female sex, characteristic EEG changes and costovertebral anomalies. This is the second reported case in Turkey.
MESH: Electroencephalography-; Infant-; Sex-Factors; Syndrome-
MESH: *Choroid-Diseases-diagnosis; *Corpus-Callosum-abnormalities; *Psychomotor-Disorders-diagnosis; *Retinal-Diseases-diagnosis; *Spasms,-Infantile-diagnosis
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 94212472
UD: 9407
MEDLINE EXPRESS (R) 1990-1994 38 of 144
TI: Aicardi syndrome: a variant example with new clinical findings.
AU: Gedik-Y; Erduran-E; Aslan-Y; Soyluf-H; Mocan-H; Demirci-A
AD: Department of Pediatrics, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
SO: Genet-Couns. 1993; 4(4): 281-3
ISSN: 1015-8146
PY: 1993
LA: ENGLISH
CP: SWITZERLAND
AB: Aicardi syndrome, which shows X-linked dominant inheritance, is characterized by corpus callosum agenesis, infantile spasms, chorioretinitis, chorioretinal lacunae, psychomotor retardation, microphthalmy, cerebral atrophy and vertebral abnormalities. A 3/12 year-old girl with Aicardi syndrome who has dilated right lateral ventricle and leucomalacy in the right frontal lobe on magnetic resonance imaging (MRI) is presented. As far as we know, this combination of symptoms was not described previously in the literature.
MESH: Cerebral-Ventricles-pathology; Child,-Preschool; Corpus-Callosum-abnormalities; Corpus-Callosum-pathology; Cysts-diagnosis; Frontal-Lobe-pathology; Magnetic-Resonance-Imaging; Syndrome-
MESH: *Cerebral-Ventricles-abnormalities; *Cysts-genetics; *Frontal-Lobe-abnormalities; *Genes,-Dominant-genetics; *Sex-Chromosome-Abnormalities-genetics; *X-Chromosome
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 94153463
UD: 9406
MEDLINE EXPRESS (R) 1990-1994 39 of 144
TI: Agenesis of the corpus callosum associated with MASA syndrome.
AU: Boyd-E; Schwartz-CE; Schroer-RJ; May-MM; Shapiro-SD; Arena-JF; Lubs-HA; Stevenson-RE
AD: Greenwood Genetic Center, SC 29646.
SO: Clin-Dysmorphol. 1993 Oct; 2(4): 332-41
ISSN: 0962-8827
PY: 1993
LA: ENGLISH
CP: ENGLAND
AB: MASA syndrome includes mental retardation, adducted thumbs, shuffling gait and aphasia or speech delay. MASA syndrome, X-linked hydrocephalus and X-linked spastic paraplegia have been linked to the same markers on Xq28 and perhaps represent variation in the clinical expression of the same gene or manifestations of different mutant alleles. The present family includes five males in two generations with borderline to mild mental retardation (5/5), speech delay (5/5), spastic paraplegia (5/5), adducted thumbs (2/5) and marked hydrocephalus (1/5). Of these males, four were evaluated by MRI or CT scan and all four were determined to have partial to complete agenesis of the corpus callosum (ACC). DNA studies confirm linkage to Xq28 probe St14 (DXS52) with a lod score of 2.86 and no recombination. It is not known if X-linked ACC is linked to the same Xq28 region.
MESH: Abnormalities,-Multiple-genetics; Adult-; Corpus-Callosum-radiography; Genetic-Markers; Linkage-Genetics; Magnetic-Resonance-Imaging; Middle-Age; Pedigree-; Syndrome-; Thumb-abnormalities; X-Chromosome
MESH: *Corpus-Callosum-abnormalities; *Mental-Retardation
TG: Case-Report; Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
CN: NICHDR01HD26208HDNICHD
RN: 0
NM: Genetic-Markers
AN: 94138510
UD: 9405
MEDLINE EXPRESS (R) 1990-1994 40 of 144
TI: Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance.
AU: Camera-G; Centa-A; Pozzolo-S; Camera-A
AD: Centro di Genetica Umana, Ospedali Galliera, Genova, Italy.
SO: Clin-Dysmorphol. 1993 Oct; 2(4): 317-21
ISSN: 0962-8827
PY: 1993
LA: ENGLISH
CP: ENGLAND
AB: We describe a male infant, born to healthy consanguineous parents, with Peters'-Plus syndrome. The syndrome includes corneal opacification, short stature, cleft lip and palate, low set ears, short hands and feet and mental retardation. Cranial CT scan showed agenesis of the corpus callosum which has not, to our knowledge, previously been described in Peters'-Plus syndrome patients. The consanguinity of the parents is in agreement with the proposed autosomal recessive inheritance.
MESH: Cleft-Lip-genetics; Cleft-Palate-genetics; Dwarfism-genetics; Ear-abnormalities; Foot-Deformities,-Congenital; Hand-Deformities,-Congenital; Infant-; Mental-Retardation-genetics; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Corpus-Callosum-abnormalities; *Genes,-Recessive
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 94138508
UD: 9405
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