Resumo

VIEIRA, Helena  e  VIEIRA, Paula. A pseudohypoparathyroidism case report. Nascer e Crescer [online]. 2011, vol.20, n.4, pp.266-269. ISSN 0872-0754.

Introduction: The pseudohypoparathyroidism includes a heterogeneous group of diseases characterized by parathyroid hormone action resistance of target organs. Case report: We report the case of a nine year-old child with generalized convulsions and cramps since the age of four and six years, respectively. He presented dysmorphic features, cataracts, delayed teeth eruption, Chvostek and Trousseau signs, psychomotor delay and short stature. Brain tomographic scan revealed cerebral intraparenquimatous calcifications. The presence of hypocalcemia, hyperphosphatemia and increased parathyroid hormone established the diagnosis of pseudohypoparathyroidism. The phenotype of Albright hereditary osteodystrophy associated with changes in thyroid function are suggestive of pseudohypoparathyroidism Ia, the most frequent type. The patient had irregular adherence to therapy, which caused several metabolic decompensation. Conclusion: We emphasize that hypocalcemia should be considered in the differential diagnosis of children seizures. Early diagnosis and proper compliance to therapy should prevent damage associated with hypocalcemia.

Palavras-chave : phenotype; hypocalcemia; pseudohypoparathyroidism; seizures.

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