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Neuromuscular Disorders

Hereditary Neuropathy with Liability to Pressure Palsies

Authors:

Hyoung Won Choi ,

Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, ILNone
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Nancy L. Kuntz

Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, ILNone
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Abstract

Investigators from 4 pediatric hospitals in Canada analyzed the clinical presentation and electrophysiological data of 12 children with hereditary neuropathy with liability to pressure palsies (HNPP), caused by PMP22 gene deletion.
How to Cite: Choi, H.W. and Kuntz, N.L., 2015. Hereditary Neuropathy with Liability to Pressure Palsies. Pediatric Neurology Briefs, 29(11), p.83. DOI: http://doi.org/10.15844/pedneurbriefs-29-11-2
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  Published on 17 Dec 2015
 Accepted on 10 Dec 2015            Submitted on 01 Dec 2015

Investigators from 4 pediatric hospitals in Canada analyzed the clinical presentation and electrophysiological data of 12 children with hereditary neuropathy with liability to pressure palsies (HNPP), caused by PMP22 gene deletion. Peroneal palsy was the most common presentation (42%) followed by brachial plexus palsy in 25% of their cases. Complete nerve conduction studies were available in 10/12 cases and it demonstrated 3 major patterns: multifocal demyelination at areas of nerve entrapment without generalized demyelinating polyneuropathy (20%), isolated generalized sensorimotor polyneuropathy (20%), combined focal demyelination at the area of entrapment and demyelinating polyneuropathy (60%). All patients had electrophysiological evidence of unilateral or bilateral carpal tunnel syndrome, although it was not always symptomatic. Electrophysiological findings are useful in diagnosis of HNPP, especially in children with heterogeneous clinical presentation. [1]

COMMENTARY. HNPP is the third most common type of hereditary motor and sensory neuropathy [1]. The typical clinical presentation is usually reported as a recurrent, painless monoparesis, with its first attack being in second or third decades [2]. The diagnosis is usually made in early adulthood unless there is a family history. A smaller case series published by Potulska-Chromik et al. about 7 children with genetically confirmed HNPP provides similar observations [3]. Their clinical presentation varied from mononeuropathy to brachial plexopathy, with recurrent episodes in 4 out of 7 patients. An earlier study that included 48 children with HNPP documented > 50% of children with HNPP has delayed onset of walking (after 15 months of age) [4]. Based on the results of the study, the authors advocate testing PMP22 gene deletion for any children with unexplained mononeuropathy or multifocal neuropathy to facilitate appropriate care and genetic counseling for these patients. The paper alerts child neurologists to consider the possibility of HNPP even in young children with a negative family history when they present with the typical compressive nerve palsy.

Disclosures

The author(s) have declared that no competing interests exist.

References

  1. Chance, PF Alderson, MK Leppig, KA Lensch, MW Matsunami, N Smith, B et al. (1993). DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell Jan 199372(1): 143–151, DOI: https://doi.org/10.1016/0092-8674(93)90058-X [PubMed]  

  2. Pagon, RA Adam, MP Ardinger, HH Wallace, SE Amemiya, A Bean, LJ et al.(). Hereditary Neuropathy with Liability to Pressure Palsies. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle, pp. 1993–2015.  

  3. Potulska-Chromik, A Sinkiewicz-Darol, E Ryniewicz, B Lipowska, M Kabzińska, D Kochański, A et al. (2014). Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. Muscle Nerve Dec 201450(6): 914–918, DOI: https://doi.org/10.1002/mus.24250 [PubMed]  

  4. Saporta, AS, Sottile, SL, Miller, LJ, Feely, SM, Siskind, CE and Shy, ME (2011). Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol Jan 201169(1): 22–33, DOI: https://doi.org/10.1002/ana.22166 [PubMed]  


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