Hereditary neuropathy with liability to pressure palsies in childhood: Report of three cases
Archives de Pédiatrie. 2017-03-01; 24(3): 260-262
DOI: 10.1016/J.ARCPED.2016.12.002
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Bar C(1), Villéga F(2), Espil C(2), Husson M(2), Pedespan JM(2), Rouanet MF(3).
Author information:
(1)Service de neurologie pédiatrique, CHU de Bordeaux, place Amélie-Raba-Léon,
33076 Bordeaux, France. Electronic address: .
(2)Service de neurologie pédiatrique, CHU de Bordeaux, place Amélie-Raba-Léon,
33076 Bordeaux, France.
(3)Service d’explorations fonctionnelles du système nerveux, CHU de Bordeaux,
place Amélie-Raba-Léon, 33076 Bordeaux, France.
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal
dominant neuropathy. It is characterized by recurrent sensory and motor nerve
palsies, usually precipitated by minor trauma or compression. Even though rare
in childhood, this disorder is probably underdiagnosed given its wide spectrum
of clinical symptoms. We review three separate cases of HNPP diagnosed in
children with various phenotypes: fluctuating and distal paresthesias disrupting
learning at school, cramps related to intensive piano practice, and discrete
muscle weakness with no functional complaint. Family history should be carefully
reviewed to identify potential undiagnosed HNPP cases, as in our three reports.
Electrophysiological study is essential for the diagnosis, with a double
advantage: to confirm the presence of focal abnormalities in clinically
symptomatic areas and to guide molecular biology by revealing an underlying
demyelinating polyneuropathy. The diagnosis of HNPP is confirmed by genetic
testing, which in 90% of cases shows a 1.5-Mb deletion of chromosome 17p11.2
including the PMP22 gene. Patients are expected to make a full recovery after
each relapse. However, it is very important for both the patient and his or her
family to establish a diagnosis in order to prevent recurrent palsy brought on
by situations involving prolonged immobilizations leading to nerve compression.
Copyright © 2016 Elsevier Masson SAS. All rights reserved.