Cerebral Calcification and Treatment-Resistant Seizures: A Rare Syndromic Presentation of Pseudohypoparathyroidism-A...

Pseudohypoparathyroidism (PHP) has a varied presentation, ranging from biochemically detected hypocalcemia in asymptomatic individuals to treatment-refractory seizures. Features may develop over time. Hypocalcemia with recurrent seizures in adolescents indicates a cause other than a primary central nervous system cause, rather than hypoparathyroidism and pseudohypoparathyroidism being the endocrinological causes.

We present a case of an adolescent girl with difficult-to-treat seizures and dystonic body movement whose diagnostic workup confirmed PHP. Phenotypically, she fit in Albright hereditary osteodystrophy. However, her hypothyroidism status and obesity are more in favor of PHP type 1a. After treatment with calcium and calcitriol, her symptoms and biochemical parameters improved.

PHP is a rare disorder involving hormone resistance that disrupts calcium homeostasis, presenting with hypocalcemia, hyperphosphatemia, and high parathyroid hormone despite normal vitamin D3. Adolescents may solely present with seizures, which poses a diagnostic challenge. The basal ganglia calcification causing extrapyramidal symptoms should prompt evaluation for hypocalcemia and possible endocrine causes. PHP may be associated with Albright Hereditary Osteodystrophy, featuring short stature, obesity, brachydactyly, and low intelligence. PHP requires prompt diagnosis and treatment with calcium and calcitriol, which can fully reverse symptoms.

This case emphasizes the importance of detecting PHP as a potential cause of treatment-refractory seizures in patients with hypocalcemia, underscoring timely management to prevent hypocalcemic complications and seizures.