New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family.
A large inbred Lebanese pedigree with congenital spastic ataxia, microcephaly, optic atrophy, short stature, speech defect, abnormal osmiophilic pattern of skin vessels, cerebellar atrophy, and severe mental retardation transmitted as an autosomal recessive trait has been studied. None of the children had any evidence of a metabolic disease, and the analysis of respiratory chain complex abnormalities was unremarkable. Only one child had a history of perinatal difficulties. Differential diagnosis and the possibility that this disorder is a hitherto unreported one are discussed.
Mégarbané
A
A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
Delague
V
V
Ruchoux
M M
MM
Rizkallah
E
E
Maurage
C A
CA
Viollet
L
L
Rouaix-Emery
N
N
Urtizberea
A
A
D000293:Adolescent; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000473:pathology; D002648:Child; D003241:Consanguinity; D005192:Family Health; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006130:Growth Disorders; D006801:Humans; D008607:Intellectual Disability; D007861:Lebanon; D008297:Male; D008854:Microscopy, Electron; D010375:Pedigree; D012867:Skin / Q000098:blood supply / Q000648:ultrastructure