Case presentation A 16-months-old boy presented to the pediatric clinic with developmental arrest at the age of six months, followed by recurrent generalized seizures and neuroregression. Medical history The parents reported no relevant perinatal or family history. The boy was delivered through uncomplicated vaginal delivery, weighed 2.8 kg at birth, and was born to non-consanguineous parents. On examination The boy was unable to hold his neck, coo or smile, fixate, and showed no interest in the surroundings.
Weight- 9.5 kg, length- 78 cm, head circumference- 44.4 cm (microcephaly) He also had a bilateral cherry-red spot in the eye, hyperacusis, brisk muscle stretch reflexes, bilateral Babinski’s sign, generalized hypotonia, and no organomegaly. Radiographical findings A radiograph of the skull revealed J-shaped sella turcica. CT scan of the brain revealed bilateral hyperdense thalamus…
