Arquivos de Neuro-Psiquiatria
Print version ISSN 0004-282X
ARRUDA, WALTER O. et al. Hereditary motor and sensory neuropathy with congenital glaucoma : report on a family. Arq. Neuro-Psiquiatr. [online]. 1999, vol.57, n.2A, pp. 190-194. ISSN 0004-282X. http://dx.doi.org/10.1590/S0004-282X1999000200004.
We report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN) and buphthalmos. Electrophysiological studies showed a demyelinating neuropathy and pathological findings showed severe loss of myelinated fibers (MF), thin myelin sheaths and myelin infoldings in a few remaining MF. The presumed mode of inheritance is autosomal recessive. This family probably represents an unique form of CMT4 that may be related to one of the congenital glaucoma genic locus, particularly GLC3A and GLC3B, described in Turkish families.
Keywords : hereditary motor and sensory neuropathy; congenital glaucoma; autosomal recessive inheritance.