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Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum typeepilepsy: an inherited encephalopathy of childhood?
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Oncology, Radiology and Clinical Immunology. (RAD)
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2001 (English)In: American Journal of Medical Genetics, ISSN 0148-7299, Vol. 103, no 3, 198-206 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2001. Vol. 103, no 3, 198-206 p.
Keyword [en]
mental retardation, macrocephaly, Lennox-Gastaut epilepsy, magnetic resonance imaging, inherited childhood encephalopathy, FAS, synergism of diseases
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-62481DOI: 10.1002/ajmg.1536PubMedID: 11745991OAI: oai:DiVA.org:uu-62481DiVA: diva2:90392
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2010-02-03Bibliographically approved

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