ESPE Abstracts (2016) 86 P-P2-61

ESPE2016 Poster Presentations Adrenal P2 (49 abstracts)

Severe Neonatal Cushing Syndrome with Multi-Organ McCune Albright Manifestations

Anne Sophie Lambert a , Anya Rothenbuhler a , Philippe Durand b & Pierre Bougnères a


aPediatric Endocrinology, Bicêtre, France; bPediatric Intensive Care, Bicêtre, France

Background: Reports of Cushing syndrome during the first month of life are rare. Mortality is high, despite medical (metyrapone) or surgical (adrenalectomy) treatment.

Objectives: To report a new neonatal case of Cushing due to McCuneAlbright syndrome (MAS).

Patient and results: Although a healthy baby at age 10 days, a newborn girl presented with sudden manifestations within the following 2 weeks: facial and truncal plethora, severe hypertension, cardiomyopathy with ventricular hypertrophy, hyperglycemia (15 mmol/l), elevated transaminases (around 200 UI/l), major hypercalcemia (3.7 mmol/l), bone dysostosis (left femur, forearms), and large bilateral adrenal hyperplasia. Laboratory data confirmed adrenocorticotropic hormone-independent Cushing’s syndrome with plasma cortisol 975 ng/ml. The baby girl underwent bilateral adrenalectomy at 40 days. Medical treatment included glargine insulin (3–4 units/d) and propranolol (40 mg/d), which allowed the control of hyperglycemia, hypercalcemia, hypertension and cardiomyopathy. The baby received 10 mg/d hydrocortisone, 50 μg/d fludrocortisone and 1 g/d ClNa. Transaminases normalized, while gamma-GT remained >1000. Mild hyperthyroidism (treated with 5 mg/d carbimazole), failure to thrive, large-café-au-lait spots appeared during the 3rd month of life. A mosaic activating GNAS gene mutation was found on DNA extracted from blood cells and the adrenals.

Conclusion: Although the interpretation of mosaic multi-organ involvement is difficult in a sick baby, current disease evolution supports the efficacy of propanolol to control some of.

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