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Terminal changes in hereditary sensory and autonomic neuropathy: a long-term follow-up of a sporadic case.

Abstract：

:We describe terminal changes in a long-term follow-up of a 51-year-old man with sporadic hereditary sensory and autonomic neuropathy (HSAN). From the age of 15 years onwards, he suffered from multiple painless ulcers of his feet and fingers, necessitating amputation. Neurological studies revealed almost complete sensory loss affecting all modalities in the upper and lower limbs, minimal involvement of motor fibers, and areflexia. A neurophysiological abnormality involved an absence of sensory action potentials with relatively normal motor nerve conduction velocities. Biopsy of the sural nerve showed almost total loss of myelinated fibers with a mild decrease in unmyelinated fibers. Despite the late onset of the disease, the progressive course, and the lancinating pain, the terminal features of this patient, which involved a selective loss of myelinated fibers and widespread sensory loss, seem to be symptomatic of HSAN II, the progressive form of autosomal recessive sensory neuropathy, and emphasize the clinical heterogeneity of HSAN.

journal_name

Clin Neurol Neurosurg

journal_title

Clinical neurology and neurosurgery

authors

Lee SS,Lee SH,Han SH

doi

10.1016/s0303-8467(03)00003-9

keywords:

subject

Has Abstract

pub_date

2003-07-01 00:00:00

pages

175-9

issue

3

eissn

0303-8467

issn

1872-6968

pii

S0303846703000039

journal_volume

105

pub_type

杂志文章

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