Two brothers with a variant of hereditary sensory neuropathy.
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.
Pavone
L
L
Department of Pediatrics, University of Catania, Italy.
Huttenlocher
P
P
Siciliano
L
L
Micali
G
G
Rizzo
R
R
Anastasi
M
M
Maimone
D
D
Woolmann
R
R
D000293:Adolescent; D001369:Axons / Q000648:ultrastructure; D001706:Biopsy; D002648:Child; D003241:Consanguinity; D005808:Genes, Recessive / Q000235:genetics*; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000145:classification / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure; D009460:Neurologic Examination; D000699:Pain Insensitivity, Congenital / Q000145:classification / Q000235:genetics / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology