ESPE Abstracts

Introduction: In Pseudohypoparathyroidism (PHP), parathyroid glands are normal or hyperplastic and they can synthesize and secrete parathyroid (PTH) hormone. Serum immunoreactive PTH are elevated even when the patient is normocalcemic. Neither endogenous nor administered PTH raises the serum Ca or lowers the levels of P. Depending on the phenotypic and biological findings, PHP is classified into various types.

Case Report: 9 years old girl Presented with 2nd episode of a convulsion while walking. It was not associated with fever. 1st convulsion occurred 6 months before with similar semiology and was awake at that time also. 2nd born child to healthy non consanguineous parents with birth weight of 2.5kg. She is having bronchial asthma since 5years of age, and it is under control. No delay in achieving development milestones. Recently noted poor school performances were there. On examination, found to have short stature (<-2SD). Afebrile, alert, no neurocutaneous manifestations, no subcutaneous nodules. There was shortening of bilateral 1st and 4th fingers. CNS including fundi, CVS, Respiratory system and abdominal examination was normal.

Investigations: CBC, Liver and Renal profiles were normal. Serum Ca was low (1.43 mmol/L) and serum P was elevated (3mmol/L). Serum PTH was markedly elevated (750 pg/ml). Xray hands showed bilateral shortening of 1st and 4th metacarpal bones. Bone age was compatible with the chronological age. EEG excluded the possibility of epilepsy. Non contrast CT brain; bilateral symmetrical calcifications of basal ganglia, thalami and sub cortical white matter in the frontal and parietal lobes. There was no evidence of nephrocalcinosis. Ocular calcifications were excluded. Started her on CaCO3 and 1alfa cholecalciferol.

Discussion: With the history and examination, other than finding a cause for afebrile convulsion, we worked on short stature as well. With that we evaluated our patient on short stature. Her afebrile convulsions, decline in school performances and short stature were nicely explained with the final diagnosis of Pseudohypoparathyroidism. The learning point was evaluation of a patient with a good clinical history and examination will guide to a proper diagnosis. After starting treatment, there was an improvement in her school performances as well as an improvement in her biochemical parameters.