INFANTILE NEUROAXONAL DYSTROPHY - DIAGNOSIS BY SKIN BIOPSY


OZMEN M., CALISKAN M., GOEBEL H., APAK S.

BRAIN & DEVELOPMENT, vol.13, no.4, pp.256-259, 1991 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 4
  • Publication Date: 1991
  • Doi Number: 10.1016/s0387-7604(12)80059-3
  • Journal Name: BRAIN & DEVELOPMENT
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.256-259
  • Istanbul University Affiliated: No

Abstract

A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have infantile neuroaxonal dystrophy (INAD). Beyond the age of two years, the EEG also entails characteristic findings. Diagnosis may be obtained by an ultrastructural examination of biopsied skin. The respective clinical and morphological findings are recorded and illustrated from four patients in this report.