Pseudohypoparathyroidism Presenting With Recurrent Twitching: Challenges Making a Diagnosis in a Low-Resource...

Pseudohypoparathyroidism (PHP) is a metabolic disorder that occurs due to target end-organ resistance to parathyroid hormone (PTH). It is a rare cause of severe symptomatic hypocalcemia as it characteristically manifests with high phosphate and low calcium. The clinical presentation, biochemical features, and severity vary from patient to patient leading to delay in diagnosis. Reduced awareness and lack of recognition of this rare clinical syndrome coupled with limited resources in rural health facilities also contribute to missed or late diagnosis. Reported here is a case of a 13-year-old girl who presented in a rural county hospital with a 1-year duration of muscle twitching and persistent headache. She had been managed with anticonvulsant therapy without resolution. Upon admission to our facility calcium levels were noted to be very low with high phosphate, high PTH levels, and normal vitamin D levels. The brain CT scan revealed calcifications in the basal ganglia. A diagnosis of PHP was henceforth made. She was put on intravenous calcium gluconate with subsequent oral calcium and calcitriol with resultant resolution of twitching. This case points to delayed diagnosis of a rare cause of symptomatic hypocalcemia signifying importance of early biochemistry testing and careful interpretation in a patient presenting with persistent twitching in low-resource set ups.