Lethal neonatal autosomal recessive axonal sensorimotor polyneuropathy.
Peripheral neuropathy is an uncommon cause of generalized hypotonia and weakness in infancy. It occurs as a part of the clinical syndrome in some neurodegenerative disorders of infancy, but seldom causes respiratory failure or swallowing difficulties. We report a lethal autosomal recessive axonal polyneuropathy with neonatal onset in a large kindred from Northern Mississippi. One patient was studied in detail at our medical center and the information on 12 other affected infants in this large family were gathered from medical records and by interviewing the family members. Patients were symptomatic for the polyneuropathy before birth and died in the first year of life from respiratory complications. Thirteen babies were affected by this clinical phenotype in four generations of this family with a high frequency of consanguinity. Affected babies were of both sexes and were born to healthy consanguineous parents. The clinical phenotype of polyneuropathy in our index patient and other affected babies in this family was similar, and represents a unique form of hereditary neonatal polyneuropathy.
Vedanarayanan
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VV
Department of Pediatrics, University of Mississippi Medical Center, Jackson 39216, USA.
Smith
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S
Subramony
S H
SH
Bock
G O
GO
Evans
O B
OB
D017668:Age of Onset; D001706:Biopsy; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D015417:Hereditary Sensory and Motor Neuropathy / Q000145:classification* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics* / Q000473:pathology; D008297:Male; D008922:Mississippi; D009413:Nerve Fibers, Myelinated / Q000473:pathology* / Q000648:ultrastructure; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D012119:Respiration; D013116:Spinal Cord / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology