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Neuropediatrics 1992; 23(2): 92-95
DOI: 10.1055/s-2008-1071319
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Two Brothers with a Variant of Hereditary Sensory Neuropathy

L.  Pavone1 , P.  Huttenlocher2 , L.  Siciliano1 , G.  Micali3 , R.  Rizzo1 , M.  Anastasi4 , D.  Maimone5 , R.  Woolmann6
  • 1Department of Pediatrics, University of Catania, Italy
  • 2Department of Neuropediatrics, University of Chicago, Chicago, USA
  • 3Department of Dermatologic Clinic, University of Catania, Italy
  • 4Division of Pediatrics, Marsala Hospital, Marsala, Italy
  • 5Department of Neurological Science, University of Siena, Siena, Italy
  • 6Department of Pathology, University of Chicago, Chicago, USA
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

We report two brothers with the clinical symptoms and neuropathological findings of hereditary sensory and autonomic neuropathy (HSAN) type IV but with normal sweating function and absence of recurrent fever.

We propose that our patients may have a lower degree of expression of the genetic defect underlying HSAN type IV or that they represent a separate genetic entity.

Key words

Hereditary sensory and autonomic neuropathy type IV - Sural nerve - Electron microscopy