Abstract
Pseudohypoparathyroidism is a genetic disorder that is similar to hypoparathyroidism, but which results from the body’s lack of response to parathyroid hormone rather than its decreased production. Serum level of immunoreactive Parathormone are elevated instead. We report a four month old infant in status epilepticus associated with hypocalcemia, hyperphosphatemia and raised parathyroid hormone level. Hypocalcemia was resistant to calcium therapy initially but responded to vitamin D analogue therapy leading to diagnosis of Pseudohypoparathyroidism. DOI: http://dx.doi.org/10.3126/jnps.v34i2.10602 J Nepal Paediatr Soc 2014;34(2):166-167
Highlights
Pseudohypoparathyroidism (PHP) is a term used to describe several related disorders characterised by end organ unresponsiveness to parathormone, due to receptor or post receptor defects[1]
PHP is listed as a rare disease by Office of Rare Disease (ORD) of Na onal Ins tute of Health (NIH)
PHP is a gene c disorder which manifests with parathyroid hormone (PTH) resistant hypocalcemia and hyperphosphatemia
Summary
Pseudohypoparathyroidism (PHP) is a term used to describe several related disorders characterised by end organ unresponsiveness to parathormone, due to receptor or post receptor defects[1]. PHP is listed as a rare disease by Office of Rare Disease (ORD) of Na onal Ins tute of Health (NIH). Pa ents diagnosed with type1A PHP have short, stocky build, brachydactyly with dimpling of dorsum of hands. A four month old male child weighing 4 kg was brought to paediatric emergency with status epilep cus. Midazolam infusion was started and inves ga ons sent showed low serum calcium levels (6.8mg/dl). History of recurrent seizures was present since 20th day of life. Child remained seizure free during subsequent stay in hospital and on follow up a er two months. Child is on follow up had normal serum calcium and phosphorus levels. Child didn’t have any physical s gmata on examina on which are found usually in type1A PHP like short, stocky build, brachydactyly with dimpling of dorsum of hands. Other skeletal abnormali es such as short and wide phalanges, bowing, exostoses, and thickening of calvaria were not found
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