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Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: An inherited encephalopathy of childhood?
- Source :
- American Journal of Medical Genetics. 103:198-206
- Publication Year :
- 2001
- Publisher :
- Wiley, 2001.
-
Abstract
- Two brothers with severe mental retardation of unknown origin were found to share several physical anomalies, including large round head, small concave nose, downslanted palpebral fissures, and gingival hyperplasia. In addition to relative macrocephaly, magnetic resonance imaging (MRI) showed severe cerebral atrophy, especially fronto-temporally. The brothers also had a thin corpus callosum and atrophic caudate nuclei. The reduced white matter showed patchy periventricular signal intensity changes. The lateral and third ventricles were large, but the fourth ventricle was of normal size. The boys had large cisterna magna, communicating widely with the fourth ventricle, but no vermian hypoplasia. Both boys had Lennox-Gastaut spectrum type epilepsy. No chromosomal anomalies were found, despite the suggestive clinical picture. Some of the clinical findings resembled fetal alcohol effects/fetal alcohol syndrome (FAE/FAS), which was also suggested by history. Current diagnostic criteria for FAE/FAS, however, excluded full-blown FAS in these cases and failed to explain the entire clinical picture in the boys. We argue that these boys had an unidentified inherited syndrome, possibly modified by fetal alcohol exposure.
- Subjects :
- Male
Pathology
medicine.medical_specialty
X Chromosome
Fetal alcohol syndrome
Corpus callosum
Fourth ventricle
Nuclear Family
White matter
03 medical and health sciences
0302 clinical medicine
Pregnancy
Intellectual Disability
medicine
Humans
Abnormalities, Multiple
Genetics (clinical)
Cerebral atrophy
0303 health sciences
Epilepsy
business.industry
030305 genetics & heredity
Macrocephaly
Brain
medicine.disease
Magnetic Resonance Imaging
Hypoplasia
Pedigree
Palpebral fissure
medicine.anatomical_structure
Fetal Alcohol Spectrum Disorders
Karyotyping
Female
medicine.symptom
business
030217 neurology & neurosurgery
Follow-Up Studies
Subjects
Details
- ISSN :
- 10968628 and 01487299
- Volume :
- 103
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....e498c1e8e481b04b0ad38262250b0eef