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Hereditary neuropathy with liability to pressure palsies in children
K J Felice1, C R Leicher, F J DiMario
1Department of Neurology, University of Connecticut School of Medicine, Farmington 06030-1840, USA.
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.
Abstract:
The clinical and neurophysiologic findings of two children presenting with focal weakness and atrophy in unusual nerve distributions and no apparent antecedent injuries are reported. Patient 1 presented with a droopy left shoulder that was initially attributed to scoliosis. Patient 2 presented with right biceps brachii atrophy that was first brought to his parent's attention during a routine physical examination. In addition to documenting focal spinal accessory and musculocutaneous mononeuropathies as the cause of weakness in Patients 1 and 2, respectively, nerve conduction studies also revealed evidence of superimposed diffuse demyelinating polyneuropathy in both children. The latter findings suggested the diagnosis of hereditary neuropathy with liability to pressure palsies and led to definitive DNA diagnoses.