1. Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging.
- Author
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STIVAROS, STAVROS M., ALSTON, ROBERT, WRIGHT, NEVILLE B., CHANDLER, KATE, BONNEY, DENISE, WYNN, ROBERT F., WILL, ANDREW M., PUNEKAR, MAQSOOD, LOUGHRAN, SEAN, KILDAY, JOHN-PAUL, SCHINDLER, DETLEV, PATEL, LEENA, and MEYER, STEFAN
- Subjects
CENTRAL nervous system ,CENTRAL nervous system diseases ,FANCONI'S anemia ,DNA damage ,BRAIN imaging ,PATIENTS ,MAGNETIC resonance imaging - Abstract
Objective: Fanconi anaemia (FA) is an inherited disease associated with congenital and developmental abnormalities resulting from the disruption of a multigenic DNA damage response pathway. This study aimed to define the MR1 appearances of the brain in patients with FA in correlation with their genetic and clinical features. Methods: A review o f the brain MRI in 20 patients with FA was performed. Pituitary size and frequencies of the radiological findings of individuals with FA and agematched controls were determined. Results: Abnormalities were identified in 18 (90%) patients with FA, the commonest being a small pituitary (68%, p < 0.01 females and p < 0.001 males). In five cases (25%, p = 0.02), the pituitary morphology was also abnormal. Posterior fossa abnormalities were seen in six cases (30%, p = 0.01) including Chiari I malformation (n = 3), Dandy-Walker variant (n = 2) and cerebellar atrophy (n = 2). Six patients (30%, p = 0.01) had morphological structural variation o f the corpus callosum (CC). Conclusion: The incidence of central nervous system (CNS) abnormalities in FA is higher than previously reported, with a midline predominance that points to impact in the early stages of CNS development. MRI brain imaging is important fo r endocrine assessment and pretransplant evaluation and can make an important con tribution to clinical decision-making. Advances in knowledge: The incidence of brain structural abnormalities in FA is higher than previously reported, with abnormalities of the posterior fossa, CC and pituitary being common. There is an association with gender and reduction in pituitary size which does not strongly correlate with biochemically evident endocrine abnormality. [ABSTRACT FROM AUTHOR]
- Published
- 2015
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