Sanjad-Sakati Syndrome Revealed by Hypocalcemic Convulsions

TL;DR

A rare genetic disorder called Sanjad-Sakati syndrome was identified in an infant through symptoms like seizures and low calcium levels.

Contribution

This case report highlights Sanjad-Sakati syndrome as an uncommon cause of hypocalcemia in infants.

Findings

The patient exhibited severe hypocalcemia and elevated phosphate levels consistent with congenital hypoparathyroidism.

Treatment with calcium and vitamin D supplementation significantly improved the patient's condition.

The case emphasizes the clinical and endocrinological features of Sanjad-Sakati syndrome.

Abstract

Sanjad-Sakati syndrome is an autosomal recessive disorder characterized by facial dysmorphia, growth retardation, and congenital hypoparathyroidism. Epidemiologically, this syndrome is primarily observed in children of Arabian descent. However, cases have also been reported in non-Arab countries. Although its exact prevalence is uncertain, the estimated incidence in Saudi Arabia ranges from one in 40,000 to one in 600,000 live births. We report a case of Sanjad-Sakati syndrome in a female infant, born to first-degree consanguineous parents, who presented with convulsive seizures since the age of four months. Laboratory findings indicated severe hypocalcemia and elevated phosphate levels, consistent with congenital hypoparathyroidism. The treatment involved calcium and vitamin D supplementation, which led to a marked improvement in the patient’s condition. The objective of this clinical case is to highlight an uncommon cause of hypocalcemia and to describe certain clinical and endocrinological manifestations of Sanjad-Sakati syndrome, which is prevalent in the Arab population.

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