Case 320

Radiology. 2023 Aug;308(2):e222364. doi: 10.1148/radiol.222364.

Abstract

A 7-year-old boy with a history of pleuropulmonary blastoma after resection 6 years prior and germline DICER1 mutation was being monitored by physicians at a multidisciplinary genetic predisposition clinic. He demonstrated no evidence of recurrent pleuropulmonary blastoma, and his renal US, chest radiographic, and ocular screening examination results remained normal. Per age-directed screening guidelines, he underwent thyroid US (Figs 1-3). He had no signs or symptoms of hyper- or hypothyroidism. Physical examination was notable for the absence of thyromegaly or palpable nodule. US at 12-month follow-up showed no change in size or appearance of the left lobe (not shown). However, at this time, the Thyroid Imaging Reporting and Data System (TI-RADS) classification scheme was applied to the stable left lobe finding. The findings were discussed at a multidisciplinary thyroid nodule conference, and the decision was made to bring the patient back for a short-term follow-up for limited unenhanced MRI without sedation (Fig 4). A diagnosis was made based on the follow-up imaging findings.

Publication types

  • Case Reports

MeSH terms

  • Child
  • DEAD-box RNA Helicases
  • Eye*
  • Face*
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Male
  • Ribonuclease III

Substances

  • DICER1 protein, human
  • Ribonuclease III
  • DEAD-box RNA Helicases

Supplementary concepts

  • Pleuropulmonary blastoma