The Desmoid Tumor Research Foundation

February 2020

Desmoid tumour: rare presentation following neonatal lumbar puncture

Author Information

Anderson E(1), Landes C(2), McCann E(2).

(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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