title: Clinical case: vermis hypoplasia with features of Smith-Lemli-Opitz syndrome.
abstract: This article attempts to describe a very unusual case of a boy aged 15, who has had intractable epileptic phenomena, mental retardation, megalocephaly, micrognathy, syndactyly, small tongue, hypoplastic genitalia, gynecomasty, obesity, and slight left body hemiatrophy. Neurologically the patient has had hypotonia of the lower limbs, cerebellar dysfunction including horizontal nystagmus, bilateral intention tremor, dysdiadokokinesia, gait ataxia. The clinical investigation revealed low plasma cholesterol and hypoplasia of the vermis in MRI. The epileptic phenomena were intractable and polymorphous. One should have thought that this is an unusual case of Smith-Lemli-Opitz syndrome associated with features of Joubert syndrome.
authors: 1st Department of Neurology, School of Medicine, Aristotelian University, Thessaloniki, Greece. efrosin@hol.gr
authors: Ephrosyni
authors: E
authors: Koutsouraki
authors: Ekaterini
authors: E
authors: Markou
authors: Anna
authors: A
authors: Karlovasitou
authors: Vasiliki
authors: V
authors: Costa
authors: Stavros
authors: S
authors: Baloyannis
mesh_terms: D000293:Adolescent; D002531:Cerebellum / Q000503:physiopathology*; D002784:Cholesterol / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D019082:Smith-Lemli-Opitz Syndrome / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology*
chemical_list: D002784:Cholesterol