CUTIS-VERTICIS-GYRATA-MENTAL-DEFICIENCY-SYNDROME - REPORT OF A CASE WITH UNUSUAL NEURORADIOLOGICAL FINDINGS

The clinical and radiological features of a patient with Cutis Vertici s Gyrata-Mental Deficiency syndrome are reported. The clinical feature s of the patient included severe mental retardation, drug resistant ep ilepsy, short stature, microcephaly with multiple furrows on the scalp and normally growing overlying hair. He was blind with bilateral opti c atrophy, multiple joint contractures and spastic tetraplegia. Skull X-ray showed thickened calvarial bones but other features of pachyderm operiostosis were absent. Brain MRI showed well developed, albeit smal l, frontal and anterior temporal lobes with a normal gray-white matter interface. The parietal and occipital cortex were atrophic with widen ing of the occipital horns (colpocephaly). The sylvian fissures were a ccentuated 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 polymic rogyria in Cutis Verticis Gyrata-Mental Deficiency syndrome, there was no evidence to suggest any migration disorder in our patient. The pre sent report highlights the clinico-radiological heterogeneity of the s yndrome. (C) Chapman & Hall Ltd.