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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. The …
Contributors EA, specialist registrar, reviewed the literature and wrote the manuscript. CL reported on the MRI scan and selected the appropriate image, and reviewed manuscript. EMcC made the diagnosis, obtained consent from the parent, and reviewed the literature and the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Parental/guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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