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A 13-month-old girl was admitted to the clinic with a newly acquired horizontal nystagmus that had been present for 4 weeks. Additionally, she had not made any further motor developmental… Click to show full abstract
A 13-month-old girl was admitted to the clinic with a newly acquired horizontal nystagmus that had been present for 4 weeks. Additionally, she had not made any further motor developmental steps in the last 4 months and could neither crawl nor sit freely. MRI of the brain and EEG showed no pathological findings. Eye and ear exam-inations revealed optic atrophy and impaired hearing. Additionally, initial laboratory findings showed hyporegenerative macrocytic anemia with hemoglobin 6.7 g/dL, mean corpuscular volume 101 fL, and reticulocyte count 20 (cid:1) 10 3 / μ L (Normal 44 – 111). A thorough workup of blood detected normal serum levels of vita-min B12, holotranscobalamin, methylmalonic acid, folic acid, and zinc. As hemoglobin steadily decreased, transfusions had to be
Journal Title: American Journal of Hematology
Year Published: 2022
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