Intrathyroidal neurofibroma, a case report.

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. It is characterized by café-au-lait spots, melanocytic hamartomas of the iris, pseudo-freckles, neurofibromas, and tumor predisposition. The presence of neurofibromas in the thyroid gland is extremely rare.

Characterization of a cohort of patients with hypercalcemia in a tertiary pediatric hospital.

Introduction. Hypercalcemia is infrequent in pediatrics, of diverse etiology, and with multiorgan morbidity. Objective.

ABCD syndrome, an uncommon cause of hypercalcemia in pediatrics.

ABCD syndrome (ABnormal Calcium, Calcinosis, and Creatinine in Down syndrome) is characterized by an association of hypercalcemia, hypercalciuria, nephrocalcinosis, and impaired kidney function in patients with Down syndrome. Only 7 cases have been published worldwide, although it is believed to be underdiagnosed. This report describes 2 new patients with ABCD syndrome and compares them with the cases reported to date.

Treatment with TRIAC in pediatric patients with MCT8.

Monocarboxylate transporters (MCTs) allow the cellular entry of thyroid hormones, especially into the central nervous system (CNS), where they are crucial for neurodevelopment. MCT8 deficiency results in the combination of hypothyroidism in the CNS and peripheral hyperthyroidism, characterized by elevated T3 levels. The only treatment currently available is 3,3',5-triiodothyroacetic acid (TRIAC), a thyroid hormone analogue aimed at improving peripheral thyrotoxicosis and preventing the progression of neurological impairment.

[Hypercalcemia in a pediatric patient with ovarian dysgerminoma: A case report].

Hypercalcemia associated with malignant tumors is a rare entity in pediatrics (0.5-1.3 % of pediatric cancers).