Skin and conjunctival biopsies in infantile neuroaxonal dystrophy.

Abstract:

:The diagnosis of infantile neuro-axonal dystrophy (INAD) in a 5-year-old patient was confirmed by the ultrastructural study of neuromuscular, skin and conjunctival biopsy specimens. Abnormal networks of smooth membranous, lamellar and tubular profiles were found in presynaptic terminals and in conjunctival and dermal axons. INAD is the first neurological disease outside the group of storage disorders in which skin and conjunctival biopsies contribute significiantly to the diagnosis.

journal_name

Acta Neuropathol

journal_title

Acta neuropathologica

authors

Martin JJ,Leroy JG,Libert J,van Eygen M,Logghe N

doi

10.1007/BF00702677

subject

Has Abstract

pub_date

1979-03-15 00:00:00

pages

247-51

issue

3

eissn

0001-6322

issn

1432-0533

journal_volume

45

pub_type

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