ESPE Abstracts

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in pediatric age resulting from the prolonged exposure to excess glucocorticoids that can be a complication of CNC.

Case presentation: We herein report a rare presentation of CNC in a 5 years old female patient who suffered from a rapid weight gain associated with changing of the facial physiognomy, acne, hypertrichosis, asthenia and an increased sedentariness. The patient was admitted to our department with the suspect of Cushing’s disease, especially after that high levels of free urinary cortisol (>800ug/24h) were found. During the first screening the patient performed a blood count, a glycemic profile, an evaluation of thyroid, sexual and adrenal hormones, urine test as well as a blood pression monitoring. The patient also performed a low dose dexamethasone test that showed a lack of suppression of cortisol level with suppressed ACTH levels which confirmed an ACTH independent Cushing syndrome. Other important findings were the presence hypokalemic alkalosis (PH 7.47,K+ 1.9), kidney stones and hypertension which were treated during the hospitalization. Although Cushing’s disease was already confirmed, CNC was suspected given the anamnestic data of atrial myxoma, thyroid and testicular tumor, cutaneous fibromas and lentiginous lesions in the patient’s father. The first abdominal ultrasound exam did not show adrenal masses but successively an abdominal MRI confirmed the presence of hypertrophy of both adrenal glands with bilateral evidence of millimetric nodulations. A DNA test eventually confirmed a mutation (P.Arg97Ter) of the PRKAR1A gene compatible with CNC both in the father and the daughter. Finally, the patient underwent a bilateral laparoscopic adrenalectomy and after the beginning of a substitution therapy a complete regression of the symptoms was obtained.

Conclusion: Cushing’s syndrome is rare in children and physicians should always keep in mind the main red flags as rapid weight gain associated with changing of the facial physiognomy and short stature, hypertension and sudden modifications of behavior. When Cushing’s syndrome is diagnosed, especially without adrenal mass, rare diseases as CNC should be considered searching carefully supporting clinical and anamnestic data.