INFANTILE NEUROAXONAL DYSTROPHY - DIAGNOSIS BY SKIN BIOPSY

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

BRAIN & DEVELOPMENT, cilt.13, sa.4, ss.256-259, 1991 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 4
  • Basım Tarihi: 1991
  • Doi Numarası: 10.1016/s0387-7604(12)80059-3
  • Dergi Adı: BRAIN & DEVELOPMENT
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.256-259
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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.