Five new cases of Mucolipidosis IV are related and the seven cases in the literature reviewed. Neurological signs of the disorder and the value of skin and conjuncitival biopsies for its diagnosis are...
The association in young girls of flexion spasms of early beginning, partial or total agenesis of the corpus callosum, severe chororetinopathy and frequent skeletal anomalies is known as the Aicardi s...