Sanjad-Sakati syndrome: Beyond the Middle-East

Abstract

Sanjad-Sakati syndrome (OMIM 241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is a rare autosomal recessive syndrome of congenital hypoparathyroidism, mental retardation, and facial dysmorphism, reported almost exclusively in the Middle-Eastern children of consanguineous parents. Here, we present a 20-year-old male child from India presenting with childhood-onset, recurrent generalized seizures, which were poorly controlled with multiple antiepileptics. Along with intrauterine growth retardation, the patient had short stature and typical facial dysmorphism. Investigations revealed extensive intracranial calcifications, with hypoparathyroidism and severe hypocalcemia. This is only the third reported patient of HRD phenotype in a non-Arab patient and the first to present with multifocal dystonia. Thus, it is important to keep in mind untreated hypocalcemia in a patient of refractory seizures, with HRD possibly being no longer an exclusively Middle-Eastern disease.