Jovan Vlaski

Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy

Abstract Cushing’s syndrome is rare in childhood and is usually caused by a pituitary adenoma. Primary hyperfunction of adrenal glands is less frequent, particularly primary pigmented nodular adrenocortical disease (PPNAD). It occurs usually in children and adolescents, with female preponderance, while Cushing’s disease has increased frequency in prepubertal males. A case of a 6-year-old boy is presented with isolated non-familiar PPNAD. The clinical pattern involved Cushingoid appearance, hypertension, virilization and depressive mood. Laboratory analyses showed loss of circadian rhythm of cortisol, undetectable adrenocorticotropic hormone (ACTH) level, impaired fasting glucose, polycythemia and elevated white blood count (WBC). Radiology investigation revealed a slightly enlarged medial branch of the left adrenal gland and a normal right one, so a unilateral adrenalectomy was performed. Pathohistology described multiple dark brownish pigmented nodules of various sizes confined to the cortex. Contralateral adrenalectomy was done 3 months later. Follow-up of 3 years was uneventful, except for one adrenal crisis during an intercurrent respiratory illness.

Predictive values of metabolic syndrome in children

Metabolic syndrome is a clinical term encompassing risk factors (obesity, insulin resistance, dyslipidemia and hypertension), which yield an increased risk for the development of diabetes mellitus type 2 and cardiovascular disorders in adolescence. Two sets of criteria for diagnosing metabolic syndrome were applied, the criteria for adults, specifically adapted for children, and the criteria defined by the International Diabetes Federation (IDF). A reliability analysis was conducted; sensitivity (SE), specificity (SP), positive predictive value (PPV) and negative predictive value (NPV) of applying certain criteria of both definitions of metabolic syndrome. Metabolic syndrome in adolescents was diagnosed much more frequently using the specific criteria (41%) in comparison to the IDF criteria (22%). Using the specific criteria for children and adolescents, it was established that the HDL cholesterol was the most specific and had the largest PPV. Using the IDF criteria for diagnosing metabolic syndrome, the reliability analysis established that the highest PPV was recorded with the elevated level of triglycerides. The specific criteria have been found to be more efficient in diagnosing metabolic syndrome in adolescents. The highest predictive value was displayed by dyslipidemic disorders, hypertriglyceridemia and hypo HDL cholesterolemia.

A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up

Neonatal diabetes mellitus is a rare monogenic disease with incidence of 1/90,000 newborns. A case of two months aged male infant with life threatening diabetic ketoacidosis is presented with novel ABCC8 gene mutation (p.F577L), successful transition from insulin to sulfonylurea and follow-up of three years.