An extremely rare case of endophthalmitis in an infant with congenital tuberculosis.

Congenital tuberculosis (CTB) is the transmission of infection from mother to infant during the intrauterine period or delivery. An 82-day-old infant presented to Nilratan Sircar Medical College and Hospital, Kolkata, with a history of persistent fever from Day 15 of age. Over the course of more than 2 months, there were pneumonia, hepatosplenomegaly and endophthalmitis which were unresponsive to a range of antibiotics, and there had been several admissions to local hospitals.

Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience.

Background: There is limited data from India regarding medical management of congenital hyperinsulinism (CHI).

Objective: To study the molecular diagnosis, medical management and outcomes of children with CHI.

Study Design: Ambispective.

Life-threatening Hypercalcemia as the First Manifestation of Acute Lymphoblastic Leukemia.

Hypercalcemia of malignancy, usually reported in adults in advanced stages, is rare in children. A 4-year-old boy presented with intermittent episodes of severe hypercalcemia, which improved with intravenous hydration therapy, furosemide and bisphosphonates as the initial manifestation of occult acute lymphoblastic leukemia. Pediatricians should rule out hematological malignancy in patients with severe hypercalcemia.

Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1.

Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disorder, characterized by dysregulated insulin secretion. Pathogenic variants in at least twelve different genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, HNF1A, UCP2, TRMT10A HK1, and PGM1) are known to cause CHI. Pathogenic variants in the GLUD1 gene, which encodes the enzyme glutamate dehydrogenase (GDH), account for 5% of the cases of congenital hyperinsulinemic hypoglycemia.

Long-acting intramuscular ACTH stimulation test for the diagnosis of secondary adrenal insufficiency in children.

Background The diagnosis of adrenal insufficiency (AI) is based on the basal and stimulated levels of serum cortisol in response to the short Synacthen test (SST). In patients with secondary AI (SAI) due to hypothalamic-pituitary-adrenal (HPA) axis defects, the SST has been validated against the insulin tolerance test (ITT), which is the gold standard. However, injection Synacthen is not easily available in some countries, and endocrinologists often use Acton-Prolongatum (intramuscular [IM] long-acting adrenocorticotropic hormone [ACTH]) in place of Synacthen.