Abstract
We present a case of a young girl who presented with hypertensive crisis and recent onset weight gain with hirsutism. On evaluation for Cushing syndrome (CS), her cortisol concentration was high, showed a paradoxical cortisol rise on dexamethasone suppression and the adrenocorticotropic hormone (ACTH) was low. Adrenal imaging showed normal adrenal morphology. Genetic diagnosis of primary pigmented nodular adrenal disease (PPNAD) was made. She was operated for bilateral adrenalectomy and histopathology confirmed the diagnosis of PPNAD. Our case highlights the rare aetiology of PPNAD as a cause of CS resulting in a hypertensive crisis. To the best of our knowledge, this is the youngest case of ACTH independent CS presenting as hypertensive encephalopathy.
Reference19 articles.
1. Cushing's syndrome: epidemiology and developments in disease management
2. Maitra A . The Endocrine System. In: Kumar V , Abbas A , Aster J , eds. Robbins and Cotran pathologic basis of disease. 9th edn. Philadelphia: Elsevier, 2015: 1123.
3. Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease. reinvestigation 50 years later;Young;N Engl J Med,1989
4. Hughes C , Man E , Achermann J . The Adrenal Cortex and Its Disorders. In: Dattani M , Brook C , eds. Brook’s Clinical Pediatric Endocrinology. 7th edn. UK: Wiley, 2020: 339.
5. Hypertensive crisis in pediatric patients: an overview;Raina;Front Pediatr,2020