Two siblings with Fanconi anemia (FANCQ, ERCC4/XPF) presenting with tumor‐mimicking lesions in the brain and acute neurological deterioration

Abstract

AbstractThe complementation Q group (FANCQ) subtype of Fanconi anemia (FA) caused by the ERCC4/XPF mutation is very rare. Two siblings, aged 13 and 10 with Fanconi phenotypic features, presented with right hemiparesis and focal‐onset seizures. In both cases, cranial magnetic resonance imaging (MRI) showed mass‐like lesions accompanied by peripheral edema and calcification. In one case, oral steroid treatment and surgical excision were performed, while in the other case, the cranial lesion regressed just with steroid treatment and without surgery. Both siblings remained wheelchair‐bound due to neurological dysfunction. One case died due to hepatocellular carcinoma. ERCC4/XPF gene mutation was detected in both siblings.