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

Balestrini, M., Cavaletti, G., D'Angelo, A., Tredici, G. (1991). Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity. NEUROPEDIATRICS, 22(2), 65-70 [10.1055/s-2008-1071419].

Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity

CAVALETTI, GUIDO ANGELO;TREDICI, GIOVANNI
1991

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
Articolo in rivista - Articolo scientifico
Nerve Fibers, Myelinated; Demyelinating Diseases; Humans; Sural Nerve; Schwann Cells; Follow-Up Studies; Child; Biopsy, Needle; Male; Hereditary Sensory and Motor Neuropathy; Female; Child, Preschool
English
65
70
6
Balestrini, M., Cavaletti, G., D'Angelo, A., Tredici, G. (1991). Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity. NEUROPEDIATRICS, 22(2), 65-70 [10.1055/s-2008-1071419].
Balestrini, M; Cavaletti, G; D'Angelo, A; Tredici, G
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/44814
Citazioni
  • Scopus 15
  • ???jsp.display-item.citation.isi??? 12
Social impact