Presentation
Eye twitches and jerky movement of limbs in a patient with Sanjad Sakati syndrome.
Patient Data
CT without contrast of the brain shows intra-cranial calcifications. Gyriform calcification in gray-white matter junction seen on both sides in frontal lobes, parietal lobes, and cerebellar hemispheres. Gross calcification bilaterally in the lentiform nuclei.
Case Discussion
Sanjad Sakati syndrome is a rare autosomal recessive congenital disorder. The case was diagnosed by genetic assessment which showed TBCE gene mutation. This mutation will result in congenital hypoparathyroidism, severe growth retardation, low IQ and typical facial characteristics. Patients develop seizure due to hypocalcemia.
The CT scan of the brain shows typical findings similar to literature reported cases which include calcification in basal ganglia, cerebrum and cerebellum. Microcephaly and corpus callosum hypoplasia are also reported. Cases of Sanjad Sakati syndrome need to be diagnosed and treated early to prevent the complications. Management includes early introduction of vitamin D and growth hormones.
Case created with Dr. Mohammed Qutub.
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