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Lethal neonatal autosomal recessive axonal sensorimotor polyneuropathy

V V Vedanarayanan1, S Smith, S H Subramony

  • 1Department of Pediatrics, University of Mississippi Medical Center, Jackson 39216, USA.

Muscle & Nerve
|October 15, 1998
PubMed
Summary

A rare, lethal, autosomal recessive axonal polyneuropathy presents in newborns with generalized weakness. This hereditary neonatal polyneuropathy causes early respiratory failure and is uniquely identified in a large kindred.

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Peripheral neuropathy is an infrequent cause of infantile hypotonia and weakness.
  • It is rarely associated with severe complications like respiratory failure or swallowing difficulties.

Observation:

  • A lethal autosomal recessive axonal polyneuropathy with neonatal onset was identified in a large kindred.
  • The condition presented prenatally, with affected infants dying within the first year from respiratory complications.
  • Thirteen infants across four generations exhibited this phenotype, with a high frequency of consanguinity.

Findings:

  • The study details a unique form of hereditary neonatal polyneuropathy.
  • Affected infants presented with generalized hypotonia, weakness, and respiratory failure.

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  • The inheritance pattern suggests an autosomal recessive mode.

    • Implications:

    • This unique polyneuropathy expands the spectrum of infantile neurodegenerative disorders.
    • Early identification and genetic counseling are crucial for affected families.
    • Further research into the genetic basis and molecular mechanisms is warranted.