Neuropediatrics. 1992 Jun;23(3):138-43.

Hereditary neuropathy with liability to pressure palsies in childhood.

Gabreëls-Festen AA, Gabreëls FJ, Joosten EM, Vingerhoets HM, Renier WO.

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Institute of Neurology, University Hospital Nijmegen, The Netherlands.

Abstract

Four children, index cases of families in which autosomal dominant neuropathy with liability to pressure palsies (HNPP) was diagnosed, are presented. Only one child was admitted for evaluation of an acute peroneal palsy, three presented with other symptoms. Polyneuropathy was diagnosed in all four children, in one of their parents and in some sibs. On inquiry, one child and several members of the four families had experienced transient palsies before. Morphological studies of the sural nerves showed frequently large tomacula and a neuropathic process of segmental de- and remyelination, and axonal degeneration. Attention is drawn to the atypical presentation without pressure palsies of HNPP.

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[Hereditary neuropathy with liability to pressure palsies (tomaculous neuropathy). Clinical, electrophysical and molecular study of two affected families]. [Rev Neurol. 2000]
[Hereditary neuropathy with liability to pressure palsies (tomaculous neuropathy). Clinical, electrophysical and molecular study of two affected families].
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