Table 1

Clinical summary

PatientAge at pathological diagnosisDisease
Patient 1In utero*Bilateral lung cysts
Birth*; 5 daysBilateral CCAM, revised later to type I PPB†
Birth*Scrotal web and testicular cyst
9 months*; 1.7 yearsMultiple small bowel polyps: enteritis cystica profunda†
25 monthsType II PPB†
25 monthsPPB brain metastasis #1†
3.1 yearsPPB brain metastasis #2†
8 yearsNCMH
10.5 yearsPPB brain metastasis #3†
10.9 yearsPPB brain metastasis #4†
Patient 213 months*; 1.2 yearsHamartomatous bilateral renal cysts, NOS†
13 months*; 2.5 yearsBenign multifocal bilateral lung cysts, NOS†
Birth*; 2 yearsL ocular ‘pre-phthisical changes’: vascular mass and recurrent retinal detachments
7.7 yearsPineoblastoma†
10.6 yearsFollicular variant of papillary thyroid carcinoma†
13.4 yearsL ovarian SLCT†
15.1 yearsUnusual hamartomatous nasal polyp, not otherwise categorised†
15.7 yearsR ovarian SLCT†
17.2 yearsR teratoid CBME†
Patient 310 daysR CCAM†, revised to type I PPB†; L lung cysts
6 monthsHamartomatous juvenile intestinal polyps†
1 monthR renal medullary malformation with disorganised collecting system and dilated lymphatic vessels†
1.1 yearsL CN†
6.8 yearsNCMH
Patient 411 months*Bilateral multifocal lung cysts; L CCAM†; revised to type I PPB†
1.7 yearsR infected pulmonary cyst†
4.1 yearsL residual type I PPB with polypoid type II PPB†
  • *Age at detection.

  • †Pathological diagnosis.

  • CBME, ciliary body medulloepithelioma; CCAM, congenital cystic adenomatoid malformation; CN, cystic nephroma; L, left; NCMH, nasal chondromesenchymal hamartoma; NOS, not otherwise specified; PPB, pleuropulmonary blastoma; R, right; SLCT, Sertoli–Leydig cell tumour.