Pediatric Cushing disease: case report
R. Arrais, C. Ramalho, S. Fernandes, P. Albernaz, J. Azevedo & V. Jaime
Cushing disease is defined by signs and simptoms of hypercortisolism due to augmented ACTH secretion from pituitary origin. It is very rare in pediatric age, with general incidence around 13 cases/1 000 000 persons/year.
Case description: S.G.N, male, 14.5 years old, was brought for medical attention due to weight gain and weakness in the last 4 months. At physical examination, he presented with moon face, cervical acanthosis nigricans, hypertrichosis and acne. Blood pression was 155×110 mmHg.
Initial laboratory profile: glicemia 85 mg/dl, insulin 20.1 mUI/l, total cholesterol 242 mg/dl, HDL 93 mg/dl, LDL 121 mg/dl, tryglicerides 138 mg/dl, cortisol 55.02 μg/dl, 17OHP 4.27 ng/dl, androstenedione 61.40 ng/dl, DHEA 3.4 μg/dl, basal cortisol 57.7 μg/dl, after dexamethasone (8 mg) 32.8 μg/dl.
Petrous sinus catheterism; ACTH test with desmopressin - right petrous sinus: 0′: 110 pg/ml 3′: 124 pg/ml 5′: 119 pg/ml 10′:112 pg/ml. Left petrous sinus: 0′: 813 pg/ml, 3′: 1158 pg/ml, 5′: 834 pg/ml, 10′: 1148 pg/ml. Peripheral blood samples: 0′: 98.4 pg/ml 3′: 99.2 pg/ml 5′: 86.4 pg/ml 10′: 92.6 pg/ml.
Image: abdome and pelvic tomography; adrenal bilateral hyperplasia and a small granuloma found in the left lung. Thorax tomography; thickening of pleura, with atelectasic areas in both lungs. Nuclear magnetic ressonance of sela turcica: slightly hyperplastic hypophysis, without adenomas.
Evolution: treated with ketoconazole, presented with diabetes mellitus, hypertension of difficult control and depression. When the surgical procedure was performed (partial hypophysectomy) medications were gradually suspended. Nowadays, under ambulatory follow-up, displays normal glicemic and arterial pressure values. Interestingly, developed diabetes insipidus, and is taking DDAVP and prednisone.
Conclusions: This case illustrates the importance of physical examination, since Cushing disease is a rare condition, with serious complications and potentially fatal If not adequately treated. The diagnostic and treatment procedures, including central ACTH test, image exams and neurosurgical procedures must be performed in tertiary centers, where these patients must be referred to as soon as possible.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.