title: Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on 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 MRI appearances of the brain in patients with FA in correlation with their genetic and clinical features.
  
  
  METHODS
  A review of the brain MRI in 20 patients with FA was performed. Pituitary size and frequencies of the radiological findings of individuals with FA and age-matched 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 of the corpus callosum (CC).
  
  
  CONCLUSIONS
  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 for endocrine assessment and pre-transplant evaluation and can make an important contribution to clinical decision-making.
  
  
  CONCLUSIONS
  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.
authors.affiliation: 1 Centre for Imaging Sciences, University of Manchester, Institute of Population Health, Manchester, UK.|2 Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.|3 Children's Brain Tumour Research Network, University of Manchester, Royal Manchester Children's Hospital, Manchester, UK.
authors.forename: Stavros M
authors.initials: SM
authors.lastname: Stivaros
authors.affiliation: 4 National Drug Evidence Centre (NDEC), Centre for Epidemiology, Institute of Population Health, University of Manchester, Manchester, UK.
authors.forename: Robert
authors.initials: R
authors.lastname: Alston
authors.affiliation: 2 Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
authors.forename: Neville B
authors.initials: NB
authors.lastname: Wright
authors.affiliation: 5 Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK.
authors.forename: Kate
authors.initials: K
authors.lastname: Chandler
authors.affiliation: 6 Department of Paediatric Haematology, Royal Manchester Children's Hospital, Manchester, UK.|7 Department of Paediatric Oncology and Haematology, Royal Manchester children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Health Science Centre, Manchester, UK.
authors.forename: Denise
authors.initials: D
authors.lastname: Bonney
authors.affiliation: 7 Department of Paediatric Oncology and Haematology, Royal Manchester children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Health Science Centre, Manchester, UK.|8 Blood and Marrow Transplant Unit, Royal Manchester Children's Hospital, Manchester, UK.
authors.forename: Robert F
authors.initials: RF
authors.lastname: Wynn
authors.affiliation: 6 Department of Paediatric Haematology, Royal Manchester Children's Hospital, Manchester, UK.
authors.forename: Andrew M
authors.initials: AM
authors.lastname: Will
authors.affiliation: 9 Department of Haematology, Lancashire Teaching Hospitals NHS Foundation Trust, Preston, UK.
authors.forename: Maqsood
authors.initials: M
authors.lastname: Punekar
authors.affiliation: 10 Academic Department of Otolaryngology and Head and Neck Surgery, Manchester Royal Infirmary, Manchester, UK.
authors.forename: Sean
authors.initials: S
authors.lastname: Loughran
authors.affiliation: 3 Children's Brain Tumour Research Network, University of Manchester, Royal Manchester Children's Hospital, Manchester, UK.|7 Department of Paediatric Oncology and Haematology, Royal Manchester children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Health Science Centre, Manchester, UK.
authors.forename: John-Paul
authors.initials: JP
authors.lastname: Kilday
authors.affiliation: 11 University of Wuerzburg, Department of Human Genetics, Biozentrum, Am Hubland, Wuerzburg, Germany.
authors.forename: Detlev
authors.initials: D
authors.lastname: Schindler
authors.affiliation: 12 University of Manchester and Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.
authors.forename: Leena
authors.initials: L
authors.lastname: Patel
authors.affiliation: 3 Children's Brain Tumour Research Network, University of Manchester, Royal Manchester Children's Hospital, Manchester, UK.|7 Department of Paediatric Oncology and Haematology, Royal Manchester children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Health Science Centre, Manchester, UK.|13 Academic Unit of Paediatric and Adolescent Oncology, University of Manchester, c/o Young Oncology Unit, The Christie NHS Foundation Trust, Manchester, UK.
authors.forename: Stefan
authors.initials: S
authors.lastname: Meyer
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000150:complications*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010902:Pituitary Gland / Q000002:abnormalities; D055815:Young Adult