BMJ Case Reports 2018; doi:10.1136/bcr-2018-226434
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Pineoblastoma in a child with 22q11.2 deletion syndrome

  1. John Ross Crawford2
  1. 1Department of Neurosciences, University of California San Diego, San Diego, California, USA
  2. 2Department of Neurosciences and Pediatrics, University of California San Diego, San Diego, California, USA
  1. Correspondence to Dr John Ross Crawford, jrcrawford{at}
  • Accepted 26 August 2018
  • Published 14 September 2018


A 4-year-old girl with a history of chromosome 22q11.2 deletion syndrome presented to the emergency department with 2–3 weeks of worsening emesis. CT of the head revealed a large pineal region calcified tumour with associated hydrocephalus. Contrast-enhanced MRI of the brain and spine status postexternal ventricular drain placement confirmed a pineal tumour with diffuse metastatic leptomeningeal spinal spread (figure 1A,B). The child had a normal MRI of the brain 2 years prior (figure 1C) as work-up for her developmental delay. The diagnosis of 22q11.2 deletion syndrome was made by chromosomal microarray testing, which revealed a 2.5 MB deletion of 22q11.2 that included the TBX1 gene. Neuropathology on a subtotal resection showed clusters and sheets of tightly packed, small, blue cells with oval or slightly angulated nuclei and scant cytoplasm, consistent with a primitive neuroectodermal tumour. …

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