[Mental retardation convulsions and cerebral atrophy; main neurological changes in Darier's disease]

Darier's disease is determined by an autosomal dominant gene and is clinically characterized by confluent hyperkarotic papules. Mental retardation may appear in up to 10-20% of patients. Convulsions, spinocerebellar tract degeneration, polyneuropathy, psychiatric disorders and cerebral atrophy occur with a low and as yet not precisely determined incidence. In the medical literature reviewed only two previous cases of cerebral atrophy associated with Darier's disease were found. This study describes six members of a family affected with an unusually high incidence of neurologic manifestations. The mother and her five sons showed skin lesions, which, on histological examination, revealed the characteristic pathological changes of Darier's disease. Two of the five siblings with convulsions and mental retardation underwent computed tomography of the brain and both patients revealed the classic findings in atrophy; moderate enlargement of the lateral ventricles and widening of the cortical sulci. Cerebral atrophy was correlated with mental retardation and convulsions.