Neuropediatrics 1991; 22(2): 65-70
DOI: 10.1055/s-2008-1071419
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Infantile Hereditary Neuropathy with Hypomyelination: Report of Two Siblings with Different Expressivity

M. R. Balestrini1 , G.  Cavaletti2,3 , A.  D'Angelo1 , G.  Tredici3
  • 1Pediatric Neurological Department, Istituto Neurologico C. Besta, Italy
  • 2Institute of Clinical Neurology, University of Milan, Milan and Monza, Italy
  • 3Institute of Human Anatomy, University of Milan, Milan and Monza, Italy
Further Information

Publication History

Publication Date:
19 March 2008 (online)

Abstract

We report the cases of two siblings both affected by inherited sensory-motor neuropathy of a demyelinative nature but with markedly different severity and pathological findings. The clinical, neurophysiological and morphological features in these two cases were consistent with the diagnosis of Hereditary Motor Sensory Neuropathy type 3 (HMSN 3), according to the classification of Dyck, with different expressivity. These results raise the still unsettled question of the phenotypic variants in inherited neuropathies. In fact the most severely affected of our cases had clinical and neurophysiological findings identical to those reported in cases of Congenital Hypomyelination Neuropathy (CHN), but the morphological picture in the sural nerve was inconsistent with this diagnosis. The criteria for the diagnosis and the reported cases of CHN have been reviewed.

    >