Primary pigmented nodular adrenocortical disease: a case report in a 7-year-old girl

Leka, Sofia; Kousta, Eleni; Anyfandakis, Konstantinos; Dolianiti, Maria; Vakaki, Marina; Linos, Dimitrios; Chrousos, George P.; Papathanasiou, Astéroula

doi:10.1515/jpem.2011.033

Cited by 2 publications

(2 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The current diagnostic criteria include skin lentigines, myxomas, and other endocrine and nonendocrine tumors [ 15 ]. Generally, this disease occurs in late adolescence or early adulthood, but a few case reports describe it in younger children [ 7 , 16 ]. Inactivating mutations in the regulatory subunit of type 1 alpha of the protein kinase A (PRKAR1A) gene have been identified in most of the patients with PPNAD [ 1 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

Residual manifestations of hypercortisolemia following surgical treatment in a patient with Cushing syndrome

Bartz

Karaviti

Brandt

et al. 2015

Int J Pediatr Endocrinol

View full text Add to dashboard Cite

ContextCushing Syndrome is difficult to diagnose, and the comorbidities and persistent late effects of hypercortisolemia after treatment of the primary disease are challenging for the patient and the endocrinologist.ObjectiveTo report the case of a girl with obesity and hypertension, ultimately diagnosed with Cushing syndrome due to primary pigmented nodular adrenocortical disease. In this case, the complications of hypercortisolism persisted short term despite surgical intervention.PatientA 4 year old morbidly obese African-American girl with developmental delay presented with hypertensive emergency in the ER and 18-month history of progressive weight gain. Her previous history included premature adrenarche, hypertension, seizures and a random high cortisol with suppressed ACTH. She was subsequently stabilized, and a diagnostic work-up persistently demonstrated elevated cortisol and suppressed ACTH. An abdominal MRI showed bilateral adrenal multinodular disease, consistent with multinodular hyperplasia of the adrenal glands. Based on these findings the patient underwent a bilateral adrenalectomy, which confirmed primary pigmented nodular adrenocortical disease. The patient had a complicated, protracted post-operative course requiring adjustment of therapy for persistent hypertension. Two months after surgery, she was readmitted to the Emergency Department with hyperpyrexia and hypertension and succumbed to the complications of sepsis.Conclusions and outcomeThis case highlights the significant diagnostic and therapeutic challenges in treating children with Cushing syndrome. Resolution of the source of hypercortisolemia does not imply regression of hypertension or recovery of the immune system. Although the child underwent bilateral adrenalectomy, persistent consequences of prolonged severe hypercortisolism contributed to her death two months later.

show abstract

Section: Discussionmentioning

confidence: 99%

Residual manifestations of hypercortisolemia following surgical treatment in a patient with Cushing syndrome

Bartz

Karaviti

Brandt

et al. 2015

Int J Pediatr Endocrinol

View full text Add to dashboard Cite

show abstract

“…Young et al found AVS to be helpful for deciding treatment strategy in ten patients with ACTH-independent CS and bilateral adrenal masses [10] and, recently, Ueland et al found that four of fourteen patients with MACS and bilateral adrenal lesions had unilateral cortisol hypersecretion [8]. Otherwise, the diagnostic value of AVS in this context is limited to case reports [11–19].…”

Section: Introductionmentioning

confidence: 99%

Adrenal venous sampling in patients with ACTH-independent hypercortisolism

et al. 2019

View full text Add to dashboard Cite

PurposeTo study the usefulness of adrenal venous sampling (AVS) in distinguishing unilateral from bilateral cortisol production in patients with ACTH-independent hypercortisolism and bilateral adrenal lesions, or morphologically normal adrenal glands.MethodsA retrospective analysis of ten consecutive patients with ACTH-independent hypercortisolism who underwent AVS at our institution between 2009 and 2017. Unilateral dominant cortisol production was defined as a side-to-side cortisol/aldosterone lateralization ratio >2.ResultsFour of ten patients had overt Cushing’s syndrome. Of these, two had bilateral adrenal lesions on computed tomography and two had normal adrenal glands. One of the two patients with bilateral adrenal lesions had, based on the AVS, a unilateral dominant cortisol production. Following unilateral adrenalectomy the patient developed adrenal insufficiency. The other three patients were considered to have bilateral cortisol production and underwent bilateral adrenalectomy. Six patients had a mild autonomous cortisol secretion and bilateral adrenal lesions. Based on AVS, one patient was considered to have unilateral dominant cortisol production, underwent unilateral adrenalectomy and developed transient adrenal insufficiency postoperatively.ConclusionsAVS may contribute to appropriate treatment in patients with ACTH-independent hypercortisolism and bilateral adrenal lesions. In our series, AVS was helpful in the decision-making of two out of ten patients, avoiding chronic treatment with steroidogenesis inhibitors, or inappropriate bilateral adrenalectomy.

show abstract

Primary pigmented nodular adrenocortical disease: a case report in a 7-year-old girl

Cited by 2 publications

References 21 publications

Residual manifestations of hypercortisolemia following surgical treatment in a patient with Cushing syndrome

Residual manifestations of hypercortisolemia following surgical treatment in a patient with Cushing syndrome

Adrenal venous sampling in patients with ACTH-independent hypercortisolism

Contact Info

Product

Resources

About