Hereditary neuropathy with liability to pressure palsies in children

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K J Felice1, C R Leicher, F J DiMario

  • 1Department of Neurology, University of Connecticut School of Medicine, Farmington 06030-1840, USA.

Pediatric Neurology
|December 11, 1999
PubMed

Insights

Two children with focal weakness and muscle atrophy were diagnosed with hereditary neuropathy with liability to pressure palsies (HNPP). Neurophysiologic studies revealed nerve damage, leading to genetic confirmation of HNPP.

Area of Science:

  • Neurology
  • Clinical Neurophysiology
  • Genetics

Background:

  • Focal weakness and muscle atrophy in children can present with atypical distributions.
  • Unusual nerve involvement may mimic other conditions, delaying diagnosis.

Observation:

  • Two pediatric cases presented with focal weakness and atrophy affecting unusual nerve distributions (spinal accessory and musculocutaneous nerves).
  • Initial symptoms, like a droopy shoulder and biceps atrophy, were misattributed to other causes.
  • No antecedent injuries were reported in either case.

Findings:

  • Nerve conduction studies identified focal mononeuropathies in the affected nerves.
  • Evidence of superimposed diffuse demyelinating polyneuropathy was observed in both patients.
  • These neurophysiologic findings strongly suggested hereditary neuropathy with liability to pressure palsies (HNPP).

Implications:

  • This study highlights the importance of comprehensive neurophysiologic evaluation in pediatric cases of unexplained focal weakness.
  • Early identification of HNPP through clinical and electrodiagnostic findings is crucial for timely genetic diagnosis.
  • Recognizing atypical presentations of HNPP can prevent diagnostic delays and guide appropriate management.

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