par Martin, Jean-Jacques 
;Leroy, Jules ;Libert, Jacques ;van Eygen, Maurits;Logghe, Noël
Référence Acta Neuropathologica, 45, 3, page (247-251)
Publication Publié, 1979-01
;Leroy, Jules ;Libert, Jacques ;van Eygen, Maurits;Logghe, NoëlRéférence Acta Neuropathologica, 45, 3, page (247-251)
Publication Publié, 1979-01
Article révisé par les pairs
| Résumé : | 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. © 1979 Springer-Verlag. |
