HỘI CHỨNG CUSHING Ở TRẺ EM DO BỆNH LÝ NỐT SẮC TỐ THƯỢNG THẬN NGUYÊN PHÁT: BÁO CÁO MỘT CA BỆNH HIẾM GẶP

Abstract

Cushing syndrome in pediatric patients typically presents with characteristic clinical features; however, identifying the underlying etiology remains challenging, particularly in rare forms of the disease. Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is an uncommon cause of ACTH-independent Cushing syndrome. Diagnosis is often difficult due to the presence of small adrenal lesions and non-specific imaging findings in the early stages.We report the case of a 7-year-old girl with a 3-year history of rapid weight gain, progressive facial rounding, and hirsutism, who had been evaluated at multiple medical centers without a definitive diagnosis. Upon admission to the National Children’s Hospital, the patient presented with classical features of Cushing syndrome accompanied by severe, difficult-to-control hypertension. Endocrine evaluation confirmed ACTH-independent hypercortisolism. Abdominal computed tomography revealed bilateral adrenal abnormalities suggestive of PPNAD. The patient subsequently underwent bilateral adrenalectomy, and histopathological examination confirmed the diagnosis of PPNAD. This case highlights the importance of considering PPNAD in pediatric patients with ACTH-independent Cushing syndrome to facilitate early diagnosis and prevent irreversible complications.