A Rare Endocrine Disorder Presenting as Recurrent Seizures
Journal Title: People's Journal of Scientific Research. - Year 2015, Vol 8, Issue 2
Abstract
Pseudohypoparathyroidism (PHP) refers to a group of distinct inherited disorders.Patients are characterised by signs and symptoms of hypocalcaemia in association with distinctive skeletal and develpomental defects. Pseudohypoparathyroidism is an uncommon sporadic or inherited genetic disorder subdivided into several distinct entities (type Ia, Ib, Ic, type II).The present case highlights the difficulty in making diagnosis as the patient completely lacked phenotypic features related to PHP. We stress the importance of a complete biochemical investigation of the calcium phosphate metabolism to recognize typical biochemical alterations associated with this condition [hypocalcaemia, hyperphosphataemia with increased phosphate tubular reabsorption and elevated parathormone(PTH) levels]. As this is an entirely treatable condition, a high index of suspicion for pseudo hypoparathyrodism with hypocalcemic seizures should be maintained even in otherwise asymptomatic adults.
Authors and Affiliations
Rajesh Patel,, Raghav Singhal, , Vivek Saxena, , Shaifali Bansal, , Sushil Jindal
Keywords
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