New cases of Neuroferritinopathy

New cases of severe hypoferritinemia, without neither anemia nor iron deficiency, are appearing in early adulthood patients. Neurofer- ritinopathy should be highly suggested as the underlying diagnosis of such cases, requiring a very cautious use of iron supplements that should be only guided by iron saturation, not other lab. Parameters.

Neuroferritinopathy is an extremely rare disease with less than 100 reported cases worldwide. It is a form of progressive neurode- generation with brain iron accumulation, causing parkinsonism, dys- tonia, cerebellar signs, cognitive decline and other neurologic deficits [1]. It is due to a mutation in the FTL gene encoding the ferritin light chain leading to decreased iron binding capacity and excessive iron release with a consequent accumulation in tissues, especially the brain [1-3]. Lab. Tests shows low serum Ferritin and brain MRI invariably reveals abnormal deposition of iron in the basal ganglia as well as cystic changes and necrosis in basal ganglia [4].

A 27 years old male Saudi patient has ESRD due to neurogenic bladder, on maintenance hemodialysis for 6 years. He is doing well with his sessions without intra-dialytic complications. His mainte- nance home therapy include daily oral iron (Feroglobin cap. od) for all these 6 years as he has a past history of severe reactions (ana- phylaxis) to IV iron (Ferosac). On revising his past lab. Tests, it was surprising that his serum Ferritin was always low (51 then 31 then 14) despite normal Tsat and being even not anemic. Oral iron was stopped pending more evaluation. 

Another female Saudi patient, aged 33 years, and having no history of any CKD. She is a VIP patient and having no symptoms. However, she was admitted for IV iron therapy as her serum Ferritin was very low, 5 ng/ml, as per her treating hematology consultant. However, her remaining lab. Tests revealed normal both Hb.%, 12.5 g/dl, and Tsat, 38%. Her serum ferritin was repeated but it was again so low, 3 ng/ ml. Finally, the patient was diagnosed as Neuroferritinopathy and iron therapy was cancelled. The situation was communicated with both the patient and her treating consultant. All were satisfied with holding iron therapy as there was neither anemia nor definite iron deficiency.

1. Lab Tests in the last year were as following 

1. % : 11-12 g/dl.
2. Tsat is : 30-35%.
3. Ferritin : 8-22 ng/ml.
4. Iron : 5 – 11.2 umol/L.  (Ref.  60-170 ug/dl OR  11-30 umol/L)
5. TIBC : 22 – 38 umol/L    (Ref.  240-450 ug/dl  OR  43-81 umol/L)

It revealed microcystic changes in the basal ganglia.

The patient is off both ESA and Iron therapy for the 2 years.

For the last 2 years, both his Hb.% and iron saturation are maintained with targets.

No funding for the case report.

There is no conflict of interest.

The patient agreed for publication and a consent was done.

1. Zecca L, Youdim MB, Riederer P, Connor JR, Crichton RR (2004) Iron, brain ageing and neurodegenerative disorders. Nat Rev Neurosci 5: 863-873.
2. Lehn A, Boyle R, Brown H, Airey C, Mellick G (2012) Neuroferritinopathy. Parkinsonism Relat Disord 18: 909-115.
3. Keogh MJ, Morris CM, Chinnery PF (2013) Neuroferritinopathy. Int Rev Neurobiol 110: 91-123.
4. Sonia L, Dario F (2014) Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms. Front Pharmacol 5: 99.

1 Hb.% : (Maintained within target)

2. Tsat : (Maintained within target)

3. Serum Ferritin : (persistent drop)

4. Serum iron : (always low)

5. TIBC : (always low)