Sanjad-Sakati Syndrome Revealed by Hypocalcemic Convulsions

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2024 Sep 9

PMID 39246904

Authors

Nour El Houda Benchaib

Aziza Elouali

Anane Sara

Maria Rkain

Abdeladim Babakhouya

Affiliations

Soon will be listed here.

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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