Connatal Pelizaeus-Merzbacher disease

Abstract

Type II connatal Pelizaeus-Merzbacher disease is a degenerative disease of the developing nervous system. Confirmation of diagnosis is only by histopathological examination at present. The authors describe an infant with several clinical features which are apparently unique to this disease. These features may allow a presumptive clinical diagnosis to be made in other cases, thereby allowing valuable genetic counselling to be given before the death of the affected infant enables confirmation by autopsy.