Cases of neuro-ferritinopathy from Sudan

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.