article which permits unrestricted noncommercial use, provided the original work is properly cited. International Journal of General Medicine 2013:6 393–398 International Journal of General Medicine Neurological manifestations in children with Sanjad–Saka

Background: Sanjad–Sakati syndrome (SSS), also known as hypoparathyroidism–mental retardation–dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features. Objective: The objective of this study was to clarify the clinical and neurological features of SSS. Patients: Twenty-four patients were included in the study. They were seen at two hospitals in Kuwait. Methods: This was a retrospective study of patients with SSS who attended the pediatric endo-crinology, genetic, and neurology clinics in the Aladan and Alfarawanya hospitals in Kuwait from September 2007 to September 2012. Clinical and radiological data were obtained from each patient’s medical records. Results: All 24 patients had the characteristic dysmorphic features and laboratory findings of SSS. Consanguinity was reported in 75 % of parents. Neurological manifestations in the form of microcephaly, developmental delay, mental retardation, and seizures were reported in all patients. Computerized tomography scans and/or magnetic resonance imaging showed evidence of intracranial calcifications in 29.2 % of patients. Two patients showed a thin corpus callosum, and one patient showed intraventricular hemorrhaging. Conclusion: Patients with SSS display a variety of dysmorphic features and neurological manifestations, including microcephaly, mental retardation, intracranial calcification, and epilepsy