title: Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity.
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.
authors.affiliation: Pediatric Neurological Department, Istituto Neurologico C. Besta, University of Milan, Italy.
authors.forename: M R
authors.initials: MR
authors.lastname: Balestrini
authors.forename: G
authors.initials: G
authors.lastname: Cavaletti
authors.forename: A
authors.initials: A
authors.lastname: D'Angelo
authors.forename: G
authors.initials: G
authors.lastname: Tredici
mesh_terms: D001707:Biopsy, Needle; D002648:Child; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D012583:Schwann Cells / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology