RESUMO
A 22-year-old Bedouin female with MCA/MR has been recently ascertained. She showed profound mental retardation, proportionate short stature, facial dysmorphism, spastic quadreparesis, bilateral taliper equinovarus, brachydactyly, situs inversus totalis, and MRI findings of cerebellar/midbrain migration defects. The described phenotype represents a new syndromic situs inversus with a characteristic Facio-Cerebro-Skeleto-Cardiac phenotype.
Assuntos
Situs Inversus/patologia , Anormalidades Múltiplas/patologia , Adulto , Encéfalo/diagnóstico por imagem , Face/anormalidades , Feminino , Deformidades Congênitas do Pé/patologia , Humanos , Imageamento por Ressonância Magnética , Fenótipo , Radiografia , SíndromeRESUMO
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.
Assuntos
Deficiência Intelectual/genética , Doenças do Sistema Nervoso/genética , Dermatopatias/genética , Adulto , Encéfalo/patologia , Inversão Cromossômica , Epilepsia/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Microcefalia/genética , Doenças do Sistema Nervoso/patologia , Couro Cabeludo/patologia , Dermatopatias/patologia , Síndrome , Cromossomo Y/genéticaRESUMO
Marinesco-Sjögren syndrome is rarely reported in the Middle East. This is the 2nd report of Marinesco-Sjögren syndrome in an Arab family. The clinical features of 2 affected brothers are described. Electrophysiological studies of the 2 patients showed primarily myopathic changes, whereas sural nerve biopsy revealed segmental demyelination and axonal degeneration. The role of tissue biopsy and the relationship to different electrophysiological studies are discussed. Both patients were noticed to have abnormally short lateral 3 metatarsals, a feature not present in other healthy members of the family. We suggest that this feature should be considered part of the syndrome profile.
