Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene.
There is phenotypic heterogeneity in patients with hereditary neuropathy with liability to pressure palsies. In rare cases, recurrent brachial plexopathy is the only expression of the disease. We describe a patient with three episodes of plexus brachialis palsy and a de novo deletion of the peripheral myelin protein-22 gene. We conclude that DNA analysis is a key issue not only for the differentiation of peripheral neuropathies but also in the diagnosis of recurrent plexopathies.
Stögbauer
F
F
Klinik und Poliklinik für Neurologie, Westfälische Wilhelms Universität Münster, Germany.
Young
P
P
Kerschensteiner
M
M
Ringelstein
E B
EB
Assmann
G
G
Funke
H
H
D000328:Adult; D001917:Brachial Plexus / Q000503:physiopathology; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D010243:Paralysis / Q000209:etiology* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D012008:Recurrence
D009185:Myelin Proteins; C073687:PMP22 protein, human