Cases of neuro-ferritinopathy from Sudan

Authors

  • Muaz A M Elsayed Faculty of Medicine, Omdurman Islamic University
  • Omer aladil Faculty of Medicine, Africa International University
  • Sara M Elsadig Faculty of Medicine, University of Khartoum
  • Suzan Ibrahim Noori Neurology Department, University Hospital, Sharjah, UAE

Keywords:

Neuro-ferritnopathy, (NBIA), Unified Dystonia Rating Scale, (UDRS)

Abstract

Neuro-ferritnopathy (NBIA) is a bag of diseases due to abnormal iron metabolism. It has different underlying genetic and enzymatic abnormalities. On the other hand, they share some radiological features. Patients present with a wide range of cerebral symptoms and signs. Diagnosis depends on the semiology, genetic testing and MRI imaging. No specific treatment is available for these cases and they represent a challenge to the treating neurologist. Here we illustrate two interesting cases with their clinical and imaging findings to raise the awareness of such rare diseases and help diagnosing them in a low- resource setting.

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Published

2021-11-22