title: 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.
abstract: 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.
authors.forename: M
authors.initials: M
authors.lastname: Donaghy
authors.forename: R N
authors.initials: RN
authors.lastname: Hakin
authors.forename: J M
authors.initials: JM
authors.lastname: Bamford
authors.forename: A
authors.initials: A
authors.lastname: Garner
authors.forename: G R
authors.initials: GR
authors.lastname: Kirkby
authors.forename: B A
authors.initials: BA
authors.lastname: Noble
authors.forename: M
authors.initials: M
authors.lastname: Tazir-Melboucy
authors.forename: R H
authors.initials: RH
authors.lastname: King
authors.forename: P K
authors.initials: PK
authors.lastname: Thomas
mesh_terms: 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