Diagnostic challenges of hypoparathyroidism — a rare hereditary endocrine disorder in children and adolescents

Abstract

The purpose — to describe the features of diagnosis and treatment of a seizure syndrome caused by hypocalcemia against hypoparathyroidism in a patient with a complicated premorbid background and multiple dysmorphic features. Material and methods. The article reports a clinical case of a 10-year-old child with seizure syndrome. The initial diagnosis of muscular dystonia was revised after persistent hypocalcemia and low parathyroid hormone (PTH) levels were detected under vitamin D deficiency. The case was notable for the presence of Arnold — Chiari malformation, mitral valve prolapses, and dysmorphic features. Determination of ionized calcium and PTH levels, along with a positive response to pathogenetic therapy, played a key role in establishing the diagnosis. Conclusion. In children with seizure syndrome accompanied by hypocalciuria and hypophosphatemia, PTH levels should be assessed regardless of age and the presence of structural CNS abnormalities. The coexistence of hypoparathyroidism with congenital anomalies warrants an active search for genetic syndromes, particularly 22q11.2 microdeletion.