PMID: 9436803Jan 22, 1998Paper

Congenital insensitivity to pain and anhidrosis with mitochondrial and axonal abnormalities

Pediatric Neurology
T A Edwards-LeeK T Yu

Abstract

Hereditary sensory and autonomic neuropathy type IV, or congenital insensitivity to pain with anhidrosis (CIPA), is a rare clinical disorder with only 32 cases reported in the literature. There has been no consistent pathophysiologic defect of the sensory nerve detected by light microscopic examination, but a frequent finding of decreased small myelinated fibers and a uniform finding of decreased unmyelinated fibers by ultrastructural analysis has been reported. Muscle biopsy in a 2-year-old boy with congenital insensitivity to pain with anhidrosis indicated lipid droplet accumulation and reduced cytochrome C oxidase histochemically on light microscopy. Electron microscopic study showed almost absent small unmyelinated nerve axons within the muscle, increased microfilaments, and decreased microtubules in axons, some abnormally enlarged mitochondria, and normal-appearing motor endplates. Biochemical analysis of muscle mitochondrial enzyme function revealed cytochrome c oxidase function to be reduced to 35% of normal, with normal function of the other mitochondrial enzymes.

References

Aug 1, 1992·Archives of Disease in Childhood·M K SaloS DiMauro
Nov 1, 1992·American Journal of Diseases of Children·K Keppler, C Cunniff
Jul 1, 1991·Journal of the Neurological Sciences·R Van CosterJ F Schwartz
Apr 1, 1990·Journal of Clinical Chemistry and Clinical Biochemistry. Zeitschrift Für Klinische Chemie Und Klinische Biochemie·K D GerbitzT Deufel
Sep 1, 1968·Neurology·S Carpenter
Oct 1, 1993·Current Opinion in Neurobiology·N Hirokawa
Apr 1, 1993·Brain Pathology·J M Schröder
May 1, 1993·Journal of Neurology, Neurosurgery, and Psychiatry·C M ChangS Y Chan

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Citations

Mar 31, 2000·Neurophysiologie clinique = Clinical neurophysiology·S SantiagoM L Espinosa
Sep 1, 2001·Journal of Clinical Neuromuscular Disease·S A ZivkovicM J Giuliani
Mar 26, 2009·Journal of Pediatric Orthopedics. Part B·Ivo MarikKazimierz Kozlowsk
Apr 5, 2001·Journal of the Royal Society of Medicine·S KarmaniC De Sousa

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