ISSN:
1432-0533
Keywords:
Infantile neuro-axonal dystrophy
;
Skin
;
Conjunctiva
;
Spheroids
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary 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 significantly to the diagnosis.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00702677