J Pediatr Neurol
DOI: 10.1055/s-0039-1698753
Rapid Communication
Georg Thieme Verlag KG Stuttgart · New York

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

1  Department of Child Neurology, Hedi Chaker University Hospital, Sfax, Tunisia
,
Fatma KamounFeki
1  Department of Child Neurology, Hedi Chaker University Hospital, Sfax, Tunisia
2  Search Unit “Neuropédiatrie” UR12ES16, Sfax University, Sfax, Tunisia
,
Wafa Bouchaala
1  Department of Child Neurology, Hedi Chaker University Hospital, Sfax, Tunisia
2  Search Unit “Neuropédiatrie” UR12ES16, Sfax University, Sfax, Tunisia
,
Siham Ben Nsir
1  Department of Child Neurology, Hedi Chaker University Hospital, Sfax, Tunisia
2  Search Unit “Neuropédiatrie” UR12ES16, Sfax University, Sfax, Tunisia
,
Chahnez Triki
1  Department of Child Neurology, Hedi Chaker University Hospital, Sfax, Tunisia
2  Search Unit “Neuropédiatrie” UR12ES16, Sfax University, Sfax, Tunisia
› Author Affiliations
Funding This research did not receive any specific grant from funding agencies in the public, commercial, or nonprofit sectors.
Further Information

Publication History

23 June 2019

25 August 2019

Publication Date:
07 October 2019 (online)

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.