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Neuropediatrics 1992; 23(3): 138-143
DOI: 10.1055/s-2008-1071329
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Hereditary Neuropathy with Liability to Pressure Palsies in Childhood*

A. A. W. M. Gabreëls-Festen , F.J. M. Gabreëls , E. M. G. Joosten , H. M. Vingerhoets , W. O. Renier
  • Institute of Neurology, University Hospital Nijmegen, P. O. Box 9101, 6500 HB Nijmegen, The Netherlands
* This investigation is part of the research programm "Disorders of the Neuromuscular System" of the University of Nijmegen.
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Publication History

Publication Date:
19 March 2008 (online)

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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 deand remyelination, and axonal degeneration. Attention is drawn to the atypical presentation without pressure palsies of HNPP.

Key words

Pressure palsies - Tomaculous neuropathy - Autosomal dominant neuropathy