Neuroimaging with magnetic resonance imaging (MRI) could be added to the screening process for Fanconi anemia (FA) due to the prevalence of brain abnormalities in these patients, according to a retrospective study published in Pediatric Blood & Cancer.

Congenital abnormalities, including those of the brain and central nervous system (CNS) are common in patients with FA. Patients may have acquired brain abnormalities as well. Neuroimaging is not a standard part of FA evaluation, and is often only recommended when a patient has neurological symptoms.

The study authors retrospectively evaluated cranial MRI studies of 34 patients (median age, 17.6 years) with FA at the Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes at Hacettepe University in Turkey. Of the cohort, 22 patients (65%) had at least 1 abnormal brain imaging finding; 11 of the patients with abnormal brain imaging had no neurological symptoms. In addition, 14 patients of the total cohort were transfusion dependent, but the authors found no significant difference in MRI findings based on transfusion dependency.

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The most common abnormalities noted were corpus callosum abnormalities, followed by supratentorial parenchymal malformations, craniovertebral junction and posterior fossa abnormalities, and vascular lesions. In addition, 8 patients had pituitary abnormalities.

Acquired neuroimaging findings, including vascular lesions, mineralization, and white matter T2 hyperintensities were found in 10 patients; 4 patients had both acquired and congenital brain abnormalities.

The authors noted that previous studies have found that about 61% to 90% of patients with FA have CNS malformations, most commonly pituitary abnormalities. Pituitary abnormalities can lead to short stature or endocrine disorders. The current analysis is consistent with previous findings, with a rate of 65% having a congenital or acquired abnormal findings on neuroimaging. The authors did not find endocrine disorders in the patients with pituitary anomalies other than short stature. However, they could not make conclusions about the relationship between pituitary anomalies and endocrinopathies.

The study was limited by its retrospective nature. The researchers found a wide range of congenital and acquired brain abnormalities. They suggested brain imaging may be part of the FA screening process for appropriate monitoring.


Aksu T, Gümrük F, Bayhan T, et al. Central nervous system lesions in Fanconi anemia: experience from a research center for Fanconi anemia patients. Pediatr Blood Cancer. Published online September 24, 2020. doi:10.1002/pbc.28722