Cases of neuro-ferritinopathy from Sudan

Muaz A M Elsayed, Omer Aladil, Sara M Elsadig, Suzan Ibrahim Noori


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.
*Corresponding Author: Omdurman Teaching Hospital Email:

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Jankovic J, Kirkpatrick JB, Blomquist KA,

Langlais PJ, Bird ED. Late-onset Hallervorden-

Spatz disease presenting as familial

parkinsonism. Neurology. 1985;35:227-34.

Hayflick SJ, Hartman M, Coryell J, Gitschier

J, Rowley H. Brain MRI in neurodegeneration

with brain iron accumulation with and without

PANK2 mutations. AJNR Am J Neuroradiol.


Edvardson S, Hama H, Shaag A, Gomori JM,

Berger I, Soffer D, et al. Mutations in the fatty

acid 2-hydroxylase gene are associated with

leukodystrophy with spastic paraparesis and

dystonia. Am J Hum Genet. 2008;83:643-8.

Salomao RP, Pedroso JL, Gama MT, Dutra LA et

al. A diagnostic approach for neurodegeneration

with brain iron accumulation: clinical features,

genetics and brain imaging. Arq Neuropsiquiatr.


Batista-Nascimento L, Pimentel C,

Menezes RA, Rodrigues-Pousada C. Iron

and neurodegeneration: from cellular

homeostasis to disease. Oxid Med Cell Longev.


Chinnery PF. Neuroferritinopathy. In: Adam

MP, Ardinger HH, Pagon RA, Wallace

SE, Bean LJH, Stephens K, et al., editors.

GeneReviews((R)). Seattle (WA)1993.

Keogh MJ, Aribisala BS, He J, Tulip E, Butteriss

D, Morris C, et al. Voxel-based analysis in

neuroferritinopathy expands the phenotype and

determines radiological correlates of disease

severity. J Neurol. 2015;262:2232-40.

Arber CE, Li A, Houlden H, Wray S. Review:

Insights into molecular mechanisms of

disease in neurodegeneration with brain iron

accumulation: unifying theories. Neuropathol

Appl Neurobiol. 2016;42(3):220-41.

Mascalchi M, Vella A, Ceravolo R. Movement

disorders: role of imaging in diagnosis. J Magn

Reson Imaging. 2012;35(2):239-56


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