title: [Hereditary neuropathy with liability to pressure palsies in childhood: Report of three cases].
abstract: 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.
authors.affiliation: Service de neurologie pédiatrique, CHU de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux, France. Electronic address: claire.bar@u-bordeaux.fr.
authors.forename: C
authors.initials: C
authors.lastname: Bar
authors.affiliation: Service de neurologie pédiatrique, CHU de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux, France.
authors.forename: F
authors.initials: F
authors.lastname: Villéga
authors.affiliation: Service de neurologie pédiatrique, CHU de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux, France.
authors.forename: C
authors.initials: C
authors.lastname: Espil
authors.affiliation: Service de neurologie pédiatrique, CHU de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux, France.
authors.forename: M
authors.initials: M
authors.lastname: Husson
authors.affiliation: Service de neurologie pédiatrique, CHU de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux, France.
authors.forename: J-M
authors.initials: JM
authors.lastname: Pedespan
authors.affiliation: Service d'explorations fonctionnelles du système nerveux, CHU de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux, France.
authors.forename: M-F
authors.initials: MF
authors.lastname: Rouanet
mesh_terms: D000293:Adolescent; D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics; D009460:Neurologic Examination
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human