ISSN - 0973-0958

Pediatric Oncall Journal View Article

A Rare Cause of Severe Hypocalcemia in Paediatrics
Rita Sousa, Andreia Romana, Nádia Santos, Joana Jorge, Rita Marques, Margarida Pinto, Paulo Calhau.
Department of Pediatrics, Hospital Garcia de Orta, Almada, Portugal.
Abstract
Pseudohypoparathyroidism is a rare inherited cause of hypocalcemia, defined as a group of disorders with end-organ resistance to parathyroid hormone (PTH) and characterized by hypocalcemia, hyperphosphatemia and elevated PTH serum levels.
We report an uncommon case of a 17-year-old female with repeated episodes of impairment of consciousness associated with carpopedal spasm. Physical examination revealed a short stature, a rounded face and flattened nasal pyramid; laboratory evaluation showed low serum calcium level, elevated serum phosphorus levels and an elevated serum parathyroid hormone level; the ECG revealed a prolonged QTc interval. CT Brain revealed calcifications in the basal ganglia and phacosclerosis suggestive of chronic hypocalcemia. These results together with the phenotypic findings onphysical examination led to the diagnosis of Albright's Hereditary Osteodystrophy. The adolescent showed an improvement with medical management.

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