Neurological Manifestations of Sanjad–Sakati Syndrome: New Three Reported Cases from Tunisia

Abstract

Sanjad–Sakati syndrome (SSS), or hypoparathyroidism–mental retardation dysmorphism syndrome, is a rare autosomal recessive congenital disorder characterized by congenital hypoparathyroidism, growth and neurodevelopmental delay, acute symptomatic seizures due to hypocalcemia, and dysmorphic features. The syndrome is underdiagnosed, and neurological manifestations are not previously described. We report three Tunisian patients with SSS revealed by acute symptomatic hypocalcemic epileptic seizures. Despite the well-controlled seizures, patients tend to continue having poor growth and neurological outcome. The diagnosis of SSS allowed for proper treatment of the patients, prevented associated comorbidities, and provided genetic counseling to their families.

Dental Management of a Tunisian Child with Sanjad-Sakati Syndrome

“…In Tunisia, all the reported cases [7], including our patient, demonstrated the existence of the same mutation.…”

“…Almost all the patients were from Arab countries (Morocco, Egypt, Oman, Jordon, Kuwait, Sudan, Qatar, Saudi Arabia, and Tunisia), and only three were from non-Arab origin (Belgium and India) [2,6,7,[9][10][11].…”

“…Children suffering from SSS have typical dysmorphic craniofacial features including microcephaly, narrow face, large floppy ears, deep-set eyes, thin lips, depressed nasal bridge, micrognathia, and abnormal dentition [1,[3][4][5][6][7].…”