title: Cutis verticis gyrata-mental deficiency syndrome: report of a case with unusual neuroradiological findings.
abstract: The clinical and radiological features of a patient with Cutis Verticis Gyrata-Mental Deficiency syndrome are reported. The clinical features of the patient included severe mental retardation, drug resistant epilepsy, short stature, microcephaly with multiple furrows on the scalp and normally growing overlying hair. He was blind with bilateral optic atrophy, multiple joint contractures and spastic tetraplegia. Skull X-ray showed thickened calvarial bones but other features of pachydermoperiostosis were absent. Brain MRI showed well developed, albeit small, frontal and anterior temporal lobes with a normal gray-white matter interface. The parietal and occipital cortex were atrophic with widening of the occipital horns (colpocephaly). The sylvian fissures were accentuated because of atrophic parietal operculae. The splenium of the corpus callosum was hypoplastic. There was atrophy of the cerebellar cortex. Contrary to the previously described cerebral cortical polymicrogyria in Cutis Verticis Gyrata-Mental Deficiency syndrome, there was no evidence to suggest any migration disorder in our patient. The present report highlights the clinico-radiological heterogeneity of the syndrome.
authors.affiliation: Department of Neurology, Ibn Sina Hospital, Hawalli, Kuwait.
authors.forename: S
authors.initials: S
authors.lastname: Farah
authors.forename: T
authors.initials: T
authors.lastname: Farag
authors.forename: M A
authors.initials: MA
authors.lastname: Sabry
authors.forename: S T
authors.initials: ST
authors.lastname: Simeonov
authors.forename: S
authors.initials: S
authors.lastname: al-Khattam
authors.forename: S J
authors.initials: SJ
authors.lastname: Abulhassan
authors.forename: B
authors.initials: B
authors.lastname: Quasrawi
authors.forename: W
authors.initials: W
authors.lastname: al-Busairi
authors.forename: S A
authors.initials: SA
authors.lastname: al-Awadi
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D007446:Chromosome Inversion; D004827:Epilepsy / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D012535:Scalp / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014998:Y Chromosome / Q000235:genetics