Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family.
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.
Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Brasil. warruda@bsi.com.br
W O
WO
Arruda
E A
EA
Comerlato
R H
RH
Scola
C E
CE
Silvado
L C
LC
Werneck
D000328:Adult; D005260:Female; D005901:Glaucoma / Q000151:congenital* / Q000175:diagnosis; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree