Abstract
AbstractWe report a 44‐year‐old male with cutis verticis gyrate (CVG)‐mental retardation syndrome. His backhead skin formed several folds, which were diagnosed as CVG. Neurological examinations revealed bilateral marked visual acuity loss, deaf‐mutism, mild mental retardation, bilateral Babinski's sign, severe spastic paraplegia, and cerebellar ataxia. Brain magnetic resonance imaging showed atrophy of the cerebellum and the corpus callosum. The fundus showed bilateral optic nerve atrophy. The clinical features had the primary non‐essential form in the CVG classification. Our patient was important because of the low frequency of this form in mental retardation.
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