AN INFANT WITH SEIZURES, OBESITY, AND ELECTROLYTE IMBALANCE: REVEALING PSEUDOHYPOPARATHYROIDISM

Abstract

Children having pseudohypoparathyroidism (PHP), an inherited disorder defined by end-organ resistance to parathyroid hormone (PTH), could suffer from growth retardation, seizures, tetany, obesity, and electrolyte imbalance. We report the case of an obese infant presenting with seizures, cardiac failure, and respiratory distress. Laboratory investigations revealed microcytic hypochromic anemia, hypothyroidism, hypocalcemia, hyperphosphatemia, vitamin D insufficiency, and elevated PTH levels. The infant was shifted to intensive care for respiratory distress and congestive cardiac failure. Management included non-invasive ventilation, blood transfusion, and calcium and magnesium supplementation, with serial monitoring of electrolytes and PTH levels. Whole genome sequencing confirmed a GNAS-related genetic mutation, establishing the diagnosis of pseudohypoparathyroidism. This case demonstrates the challenges in detecting PHP in children in light of its peculiar and dynamic clinical manifestation.