Background: Ectopic ACTH syndrome is very rarely seen in infancy, usually occurring in older children.
Case presentation: A female infant was born by Caesarean section (BW 4280 g) with congenital anal atresia and a large tumour surrounding the cross-tail region. CT imaging identified a heterogeneous pelvic mass (76×49×38 mm) below the sacrum. On day 1 of life, a sigmoid colostomy was established and at age 1 week, part of the tumour with the coccyx was removed. Control CT abdomen and pelvis scan showed residual tumour (27×21×28 mm). Histopathology showed a grade three teratoma immaturum. α-fetoprotein (AFP) pre-surgery was 59 000 ng/ml and post-surgery 6 339 ng/ml (normal range 500 ng/ml). There were no metastases. For 3 months, the child was well, then tumour size increased on imaging. Chemotherapy-3 blocks VBP (vinblastine, bleomycin, cisplatin) normalised AFP and decreased tumor size. At age 7 months the child had increased appetite, weight gain (>97thc), Cushingoid appearance, hypertension (BP) (210/160 mmHg), hypokalemia (2.85 mmol/l), hypercortisolemia (09.00 h; 1794 nmol/, 13.00 h; 1794 nmol/l), increased ACTH (121 pg/ml) and LDH (1.005 U/l). Dexamethasone suppression test showed absent cortisol suppression: 1.054 nmol/l (basal), 1.056 nmol/l (post-dex). Imaging studies (CT CNS, chest, adrenal scintigraphy with octreotide) excluded metastases. Immunohistochemical staining of the tumour was positive for ACTH in cancer cells. Ketoconazole, metyrapone, anti-hypertensive therapy induced only temporary, control of hypercortisolism (09.00 h cortisol 1453 nmol/l, ACTH 700 pg/ml) and BP. At age 12 months, a significant part of the tumour was removed at surgery. Currently, the patient does not require supplementation of steroid hormones.
Conclusion: An extremely rare cause of Cushings syndrome (CS) due to ectopic ACTH syndrome is described in a female infant.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology