A mummy emerges from the grave: Scurvy confounding the clinical presentation of a child with Fanconi anemia

Abstract

A 10-year-old Syrian refugee girl was referred to Erciyes University for hematopoietic stem cell transplantation (HSCT) for Fanconi anemia (FA) associated aplastic anemia with platelet transfusion refractoriness. Her parents were first cousins and one of her siblings had previously died due to FA. On admission, her body weight was 23 kg (50 P), height was 124 cm (<3P), and head circumference was IMAGE 1 A 10-year-old girl with knee and ankle pain. (a,b) Frontal radiographs of the pelvis and lower extremities were evaluated as being normal. (c,d) Pre-contrast and post-contrast axial fat saturated T1-weighted hip images demonstrate bone marrow enhancement. MRI of whole body, coronal short tau inversion recovery (STIR) images demonstrated that (e) humeral proximal epiphyseal and metaphyseal, (f) femoral distal metaphyseal, (g) tibial proximal metaphyseal symmetrical, heterogeneous hyperintense signal changes in the bone marrow. (h) T1-weighted coronal knee image shows hypointense signal changes in the bone marrow Alper Ozcan, Sibel Saracoglu and Jeffrey Verboon contributed equally to this study.

The risk for scurvy in children with neurodevelopmental disorders

“…Literature reviewed yielded 77 cases of scurvy described in 65 published papers (Table S1), in addition to the two cases described here 1,8,9,11‐73 …”