Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies.
A Kashmiri family with 3 members affected by a congenital sensory and autonomic neuropathy and corneal opacification is described. The 3 affected cases were offspring of consanguinous marriages in two generations; autosomal recessive inheritance is therefore probable. Pain and temperature sensation was lost in the limbs with a resulting mutilating acropathy. Sudomotor function was also impaired. Motor function, tendon reflexes, kinaesthetic sensation and sensory nerve action potentials were normal. Sural nerve biopsy showed a selectively reduced small myelinated nerve fibre population. Corneal histology revealed neurotrophic keratitis. The classification of the hereditary sensory and autonomic neuropathies is discussed. This family represents a previously unrecognized variant.
Donaghy
M
M
Hakin
R N
RN
Bamford
J M
JM
Garner
A
A
Kirkby
G R
GR
Noble
B A
BA
Tazir-Melboucy
M
M
King
R H
RH
Thomas
P K
PK
D000328:Adult; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003315:Cornea / Q000473:pathology; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007634:Keratitis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology