Diagnosis of Infantile Neuro-Axonal Dystrophy by Conjunctival Biopsy

I. Ferrer; I. Fabregues; M. Pineda; E. Fernandez Alvarez; V. Cusi; J. Vila

doi:10.1055/s-2008-1059553

Subscribe to RSS

Please copy the URL and add it into your RSS Feed Reader.

https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00000041.xml

Share / Bookmark

Facebook X Linkedin Weibo

Download PDF

Neuropediatrics 1983; 14(1): 53-55
DOI: 10.1055/s-2008-1059553

Diagnosis of Infantile Neuro-Axonal Dystrophy by Conjunctival Biopsy

I. Ferrer¹ , I. Fabregues² , M. Pineda² , E. Fernandez Alvarez² , V. Cusi³ , J. Vila³

¹Unidad de Neuropatologia, Departamento de Anatomia Patologica CS., Principes de España, Hospitalet de Llobregat, España
²Servicio de Neurologia, Hospital Infantil San Juan de Dios, Barcelona, España
³Servicio de Anatomia Patologica, Hospital Infantil San Juan de Dios, Barcelona, España

Further Information

Publication History

Publication Date:
15 May 2008 (online)

PDF Download Permissions and Reprints

Abstract

Conjunctival biopsies with ultrastructural examination in two suspected patients of infantile neuroaxonal dystrophy showed characteristic tubulo-vesicular aggregates in some amyelinic and rarely myelinic axons, thus confirming the diagnosis.

Key words

Infantile neuroaxonal dystrophy - Metabolic disease - Conjunctival biopsy

>