Introduction Sanjad-Sakati syndrome (SSS) was first described in the Middle-East in children of consanguineous parents. It is a rare autosomal recessive disorder known also as Middle-East syndrome, Richardson-Kirk syndrome or hypoparathyroidism-retardation-dysmorphism syndrome. Children afflicted with this condition are born with intrauterine growth retardation, and present with hypocalcemic tetany or seizures due to hypoparatyroidism at an early stage in their lives. We report presence of partial agenesis of corpus callosum in a patient with SSS.
Methods The Clinical investigation was conducted at King Khaled Hospital in Hail, Saudi Arabia 2011.
Results General physical examination showed the patient to be short-statured with facial dysmorphic features including a long narrow face, deep seated eyes, peaked nose, depressed nasal bridge, micrognathia, thin lips, low set and large floppy ears, small hands and small feet.
The brain MRI in our patient showed a partial agenesis of the corpus callosum (p-ACC) characterised by absence of the splenium and rostrum of this structure.
Conclusion Our patient showed partial agenesis of the corpus callosum which could explain the patient's motor, behavioural and developmental abnormalities (reference). The wide variety of MRI presentations reported in the SSS literature may represent different gene mutations.