Diagnosis of Infantile Neuroaxonal Dystrophy by Conjunctival Biopsy

Overview

Journal J Neurol Neurosurg Psychiatry

Publisher BMJ Publishing Group

Specialties Neurology
Neurosurgery
Psychiatry

Date 1978 Jun 1

PMID 671062

Citations 8

Authors

M L Arsenio-Nunes

F Goutieres

Affiliations

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Abstract

Conjunctival biopsy and ultrastructural examination of conjunctival nerves, showing the presence of spheroids within axons, led to the confirmation of the diagnosis of infantile neuroaxonal dystrophy in two children with progressive mental deterioration. Conjunctival biopsy, which is simple to perform, even in young children, and does not require general anaesthesia or admission to hospital, is presented as a reliable and very convenient technique for the diagnosis of infantile neuroaxonal dystrophy.

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Pathology of skeletal muscle and intramuscular nerves in infantile neuroaxonal dystrophy.

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