LETHAL NEONATAL AUTOSOMAL RECESSIVE AXONAL SENSORIMOTOR POLYNEUROPATHY

Peripheral neuropathy is an uncommon cause of generalized hypotonia an d weakness in infancy. It occurs as a part of the clinical syndrome in some neurodegenerative disorders of infancy, but seldom causes respir atory failure or swallowing difficulties. We report a lethal autosomal recessive axonal polyneuropathy with neonatal onset in a large kindre d from Northern Mississippi, One patient was studied in detail at our medical center and the information on 12 other affected infants in thi s large family were gathered from medical records and by interviewing the family members. Patients were symptomatic for the polyneuropathy b efore birth and died in the first year of life from respiratory compli cations. Thirteen babies were affected by this clinical phenotype in f our generations of this family with a high frequency of consanguinity. Affected babies were of both sexes and were born to healthy consangui neous parents, The clinical phenotype of polyneuropathy in our index p atient and other affected babies in this family was similar, and repre sents a unique form of hereditary neonatal polyneuropathy. (C) 1998 Jo hn Wiley & Sons, Inc. Muscle Nerve 21: 1473-1477, 1998.