Two siblings whose features met Cogan's classic description of congenital ocular motor apraxia were examined. There was first-degree consanguinity in the family. Each had an absence of voluntary and optically-induced horizontal eye movements and demonstrated classic head thrusting.
Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents. Macrocephaly, a slowly progressive… (More)