• Anna Potulska-Chromik, Elena Sinkiewicz-Darol, Barbara Ryniewicz, Marta Lipowska, Dagmara Kabzińska, Andrzej Kochański, and Anna Kostera-Pruszczyk.
• Department of Neurology, Medical University of Warsaw, Banacha 1a Street, 02-097, Warsaw, Poland.
• Muscle Nerve. 2014 Dec 1; 50 (6): 914-8.

IntroductionThe first episode of hereditary neuropathy with liability to pressure palsy (HNPP) in childhood is rare.MethodsWe analyzed retrospectively the data of 7 patients with a deletion in PMP22 and onset of symptoms before age 18 years. Direct sequencing of the LITAF (lipopolysaccharide-induced tumor necrosis factor) gene was performed in patients and family members.ResultsClinical presentations varied from mononeuropathies to brachial plexopathy, with recurrent episodes in 4 patients. Electrophysiological abnormalities characteristic for HNNP were found in most subjects. Analysis of the LITAF gene revealed an Ile92Val polymorphism in 6 of 7 (86%) probands and 5 of 7 (83%) family members, over 4 times greater frequency than in the general population.ConclusionsClinical suspicion of HNPP even when nerve conduction study results do not fulfill HNPP criteria should indicate genetic testing. In our patients, early-onset HNPP was associated frequently with isoleucine92valine LITAF polymorphism.© 2014 Wiley Periodicals, Inc.

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