Seizure Beyond Brain: A Case Report on Pseudohypoparathyroidism

Abstract

Pseudohypoparathyroidism (PHP) represents a group of disorders due to end organ resistance
to the actions of parathyroid hormone (PTH) and abnormalities in the PTH signaling pathway.
PHP is characterized by hypocalcemia and hyperphosphatemia with variable expression of
clinical phenotype. The constellation of these clinical features together is termed as Albright
hereditary osteodystrophy (AHO). Molecular genetics is the gold standard for confirmation and
categorization of PHP into the different subtypes. Despite recent advances in molecular
diagnostics, clinical approach appears to be more practical in resource limited setting. Here,
we discuss about clinical features, radiographic abnormalities, laboratory findings and
treatment of an 8-year-old-girl with pseudohypoparathyroidism.