Background: Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH) and insensitivity to the biological activity of PTH.
Case report: We present the case of a 38-year-old man admitted to the Neurology Clinic in November 2007 for a witnessed grand mal seizure that resolved without intervention. Patient had a history of mental retardation, but no history of seizures in the past. On admission vital signs were stable and the physical exam showed a positive Chvostek sign, obesity and a characteristic set of skeletal abnormalities including short stature, round face, short neck and short 4th and 5th metacarpals. Relevant laboratory findings: calcium 1.56 mmol/l (N 2.12.55), phosphorus 1.51 mmol/l (N: 0.741.52), PTH: 134 pg/ml (N: 1565), urinary calcium: 0.01 mmol/d (N: 2.58), urinary phosphorus: 43.1 mmol/d (N: 3580). CT of the head showed calcifications of the basal ganglia and multiple calcifications of the soft tissues, electrocardiogram revealed prolonged QT interval and the ophtalmological exam showed bilateral cataract. The patient had an impaired mentation with an IQ of 55.
Discussion: Based on the examinations above, we interpreted the case as a typical presentation of pseudohypoparatyroidism type 1a (giving the striking phenotypic characteristics). This autosomal dominant genetic disease has a prevalence of 3.5 cases per 1 million people. The mainstay of treatment is vitamin D metabolites, such as calcitriol, and calcium. The goals of therapy are to maintain serum calcium levels within the reference range to avoid hypercalciuria and to suppress PTH levels to normal. Our patient also needed neurological medication for the epileptic seizures. 0.00019) than weight of examined patients (P=0.632958).
03 - 07 May 2008
European Society of Endocrinology