Cases of neuro-ferritinopathy from Sudan
Khartoum Medical Journal · Volume 12, Issue 1 (2021)
Abstract
<jats:p>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.</jats:p>