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

The 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 m...

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Bibliographic Details
Published in:Pediatric blood & cancer 2024-07, Vol.71 (7), p.e30773-n/a
Main Authors: Özdemir, Zeynep Canan, Yarar, Coşkun, Öztunalı, Çiğdem, Töret, Ersin, Çarman, Kürşat Bora, Bör, Özcan
Format: Article
Language:English
Subjects:
Anemia
brain
Calcification
Complementation
Edema
Fanconi anemia
Fanconi syndrome
Hepatocellular carcinoma
inflammation
Lesions
Magnetic resonance imaging
mass‐like lesion
Mutation
Neuroimaging
Neurological complications
Paresis
Point mutation
Seizures
Siblings
Skull
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Summary:The 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.
ISSN:1545-5009
1545-5017
1545-5017
DOI:10.1002/pbc.30773