(1)Liverpool Centre for Genomic Medicine, Liverpool Womens NHS Foundation Trust, Liverpool, UK. (2)Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
Publication
Arch Dis Child Fetal Neonatal Ed
Summary
A 12-month-old girl was referred to clinical genetics to consider genetic testing because of a family history of familial adenomatous polyposis (FAP). Simultaneously, the child was undergoing investigation for an enlarging, non-tender lump on her back. The girl had previously had a lumbar puncture (LP) for suspected neonatal sepsis. MRI revealed a mass at L3/L4 (figure 1), and genetic testing confirmed the girl had inherited the familial APC mutation.
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