Acute cerebellar ataxia as the first manifestation of Imerslund-Gräsbeck syndrome

Imerslund-Gräsbeck syndrome is a rare condition caused by vitamin B12 deficiency and proteinuria. In this article, we reported the case of a 10-year-old girl with imbalance and urinary incontinence. The case had cerebellar ataxia as the primary manifestation. The disequilibrium had progressed gradually within three weeks and was consistent with the symptoms of cerebellar involvement and urinary incontinence. Brain and cervico-thoraco-lumbar magnetic resonance imaging were normal. The patient had elevated lactate dehydrogenase (LDH=4775 IU/L), in addition to macrocytic anemia, on laboratory examinations; thus, the possibility of malignancy was raised. Then, bone marrow aspiration was performed, showing hypercellular marrow with megaloblastic changes. This finding proved megaloblastic anemia. Regarding the low prevalence of vitamin B12 deficiency in healthy individuals, extensive studies were performed to find out the cause. The serum level of vitamin B12 was found to be lower than the normal range. Although urinalysis revealed significant proteinuria, further nephrological investigations did not indicate any abnormalities. No evidence of serious problems was observed in the gastrointestinal tract study, and metabolic studies were normal. Finally, based on the obtained data, Imerslund-Gräsbeck syndrome was recognized. Patient was treated by vitamin B12 injection, leading to improved balance, and in one-month follow-up, she was able to walk independently, and the cerebellar symptoms had greatly disappeared; however, proteinuria persisted.