Central nervous system lesions in Fanconi anemia: Experience from a research center for Fanconi anemia patients

• Published in: Pediatric blood & cancer 2020-12, Vol.67 (12), p.e28722-n/a
• Main Authors: Aksu, Tekin, Gümrük, Fatma, Bayhan, Turan, Coşkun, Çağrı, Oğuz, Kader K., Unal, Sule
• Format: Article
• Language: English
• Subjects: acquired abnormalities; Adolescent; Adult; Anemia; Atrophy; Central nervous system; Central Nervous System Diseases - diagnosis; Central Nervous System Diseases - diagnostic imaging; Central Nervous System Diseases - etiology; Child; Child, Preschool; congenital abnormalities; Corpus callosum; Epilepsy; Fanconi anemia; Fanconi Anemia - complications; Fanconi syndrome; Female; Follow-Up Studies; Hearing loss; Hematology; Hemiplegia; Humans; Intellectual disabilities; Magnetic resonance imaging; Male; Medical imaging; Neuroimaging; Neuroimaging - methods; Oncology; Pediatrics; Pituitary; Prognosis; Retrospective Studies; Skull; Substantia alba; vascular lesions; Young Adult
• ISSN: 1545-5009; 1545-5017
• DOI: 10.1002/pbc.28722

Background Brain atrophy, abnormal pituitary morphology, corpus callosum, and posterior fossa abnormalities have been described in patients with Fanconi anemia (FA). We aimed to provide an overview of cranial neuroimaging findings and to evaluate the clinical implications in FA patients. Procedure Cranial magnetic resonance imaging (MRI) studies of 34 patients with FA were retrospectively evaluated, and patients’ clinical data were correlated with the imaging findings. Results The patients’ median age was 17.6 (range, 3.9‐28) years. At least one pathological brain imaging finding was demonstrated in 22 (65%) patients. These findings included corpus callosum abnormalities and other related supratentorial malformations in nine, pituitary abnormalities in eight, craniovertebral junction and posterior fossa abnormalities in eight, vascular lesions in six, and intracerebral calcifications in two patients. Among the 22 patients who had abnormal cranial MRI findings, six (27%) had mild to moderate intellectual disability (ID), three (14%) had epilepsy, one (5%) had mild hearing loss, and one patient (5%) had hemiplegia. Among these 34 patients, 14 (41%) were transfusion dependent. There was no significant difference between patients with congenital and acquired neuroimaging findings and patients with normal neuroimaging regarding transfusion dependency. Conclusions Acquired abnormalities in brain tissue, such as white matter intensity changes, white matter T2 hyperintense discrete foci, or infarcts along with congenital abnormalities, were identified in this study. Variable abnormal brain imaging findings in FA patients, although some were not associated with clinical neurological manifestations, suggest that brain imaging could be part of screening in FA.