[Type II lissencephaly: presentation of intermediate form]

A 35-week new born with cerebral dysplasia (type II lissencephaly) and muscular dystrophy is reported. The central nervous system (CNS) findings were typical of those previously described in lissencephalic cerebromuscular disorders, and were characterized by global lissencephaly, hydrocephalus, and cerebral cortical dysplasia. The eyes appeared normal on examination and no encephalocele was found. The changes in the CNS in Walker-Warburg syndrome are similar to, but more severe than those found in Fukuyama congenital muscular dystrophy, and both represent a failure of constraint of neuronal migration. Whether the syndromes characterized by cerebro-ocular dysplasia and muscular dystrophy are genetically heterogeneous or allelic variations is controversial. Our case is a form of presentation between Fukuyama and Walker-Warburg syndrome in a family with fourth affected children.

In our opinion, cases as the ours supports the theory that Fukuyama and Walker-Warburg could be genetically allelic.