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Eur Neurol. 2004;51(4):206-14. Epub 2004 May 17.

Congenital insensitivity to pain with anhidrosis in Taiwan: a morphometric and genetic study.

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1
Department of Neurology, Kaohsiung Medical University, Kaohsiung, Taiwan, ROC.

Abstract

Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by insensitivity to pain, anhidrosis, recurrent hyperpyrexia, mild mental retardation, and self-mutilating behavior. We report 2 brothers, aged 20 and 18 years, who suffered from phenotypes of CIPA. Both brothers had a branch site mutation in intron 7 (IVS7-33 T-->A) of the neurotrophic tyrosine kinase receptor type 1 gene. The electrophysiological studies showed no significant abnormal findings in sensory evoked potentials, motor evoked potentials to transcranial magnetic stimulation, or heart rate variations; sympathetic skin responses were absent. Morphometric study of their sural nerve histopathology revealed normal myelinated fiber density, 8,082 fibers/mm2 and 5,637 fibers/mm2 (normal 6,141 +/- 421); decreased unmyelinated fiber density, 2,537 fibers/mm2 and 2,211 fibers/mm2 (normal 28,578 +/- 8,669); increased axon size, 4.41 +/- 1.59 microm and 5.33 +/- 1.48 microm (normal 3.73 +/- 1.45), and increased axon diameter (A)/myelin thickness (M) ratio (A/M), 3.47 +/- 1.42 and 2.70 +/- 1.07 (normal 2.49 +/- 0.93). Scatterplot analysis of the G ratio (axon diameter:fiber diameter) did not show consistent results in the relationship between axon size and myelin thickness. In conclusion, the neuropathy of our CIPA patients included a marked reduction of small myelinated and unmyelinated fibers and a relatively increased axon size. This is the first CIPA family encountered in Taiwan.

PMID:
15159601
DOI:
10.1159/000078487
[Indexed for MEDLINE]
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