Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0277787 (stigma)
 13,352 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pseudohypoparathyroidism (PHP) is characterized by resistance to the peripheral action of parathyroid hormone. We present a case of a seven-year-old girl who was admitted at the service of Instituto Materno Infantil de Pernambuco, IMIP, with motor episodes affecting the arms. Her calcium level was normal. Computed tomography showed calcifications in frontal lobes and basal ganglia. After six years: calcium was 5.5 mg/dL; phosphorus, 8.3 mg/dL and serum parathyroid hormone was 1,318 pg/mL. Pseudohypoparathyroidism diagnosis was considered. This is the first description of a case of pseudohypoparathyroidism without Albright's stigma, with cerebral calcification, and no calcium abnormalities at the initial clinical manifestation.
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PMID:First description of pseudohypoparathyroidism with frontal lobe calcification and normal serum calcium at the initial manifestation in an otherwise healthy seven-year-old girl. 2188 19