LISSENCEPHALY ASSOCIATED WITH CONGENITAL HYPOMYELINATING AND AXONAL NEUROPATHY

The authors describe an 11-year-old male with severe mental retardatio n, hypotonia, and arthrogryposis, with both type I lissencephaly and a congenital peripheral neuropathy, probably hypomyelinating with axona l involvement. To the best of the authors' knowledge, this is the firs t report involving the co-occurrence of these two developmental disord ers. A viral, metabolic, or nutritional insult acting throughout the p eriod of migration and myelination or a contiguous gene Linkage are po ssible explanations for this disorder. (C) 1998 by Elsevier Science In c. All rights reserved.