Chvostek’s Sign in Familial Hypoparathyroidism

A 2 year old boy presented with recurrent seizures and was found to have neuromuscular irritability (Chvostek’s sign) upon facial nerve tapping. Laboratory tests revealed hypocalcemia, hypomagnesemia, hyperphosphatemia, and undetectable parathyroid hormone (PTH) levels. Head CT showed basal ganglia calcifications, indicative of chronic hypoparathyroidism. Whole exome sequencing identified a de novo GCM2 variant, confirming familial isolated hypoparathyroidism type 2. Treatment with calcium and calcitriol resolved seizures and normalized calcium levels. This case underscores the importance of recognizing Chvostek’s sign in pediatric hypocalcemic emergencies and genetic testing for familial hypoparathyroidism.

A 2 year old boy presented with recurrent seizures and was found to have neuromuscular irritability (Chvostek’s sign) upon facial nerve tapping. Laboratory tests revealed hypocalcemia, hypomagnesemia, hyperphosphatemia, and undetectable parathyroid hormone (PTH) levels. Head CT showed basal ganglia calcifications, indicative of chronic hypoparathyroidism. Whole exome sequencing identified a de novo GCM2 variant, confirming familial isolated hypoparathyroidism type 2. Treatment with calcium and calcitriol resolved seizures and normalized calcium levels. This case underscores the importance of recognizing Chvostek’s sign in pediatric hypocalcemic emergencies and genetic testing for familial hypoparathyroidism.