Microcephaly in infantile Sandhoff's disease

Description

We evaluated a boy aged 16 months with developmental arrest at the age of 6 months followed by neuroregression and recurrent generalised seizures. Perinatal and family history was not contributory. He was first born to non-consanguineous parents by term, uncomplicated vaginal delivery and weighed 2.8 kg at birth. On examination, he was unable to hold neck, fixate, coo or smile and showed no interest in the surroundings. His weight was 9.5 kg (between 15th and 50th centile), length 78 cm (between 15th and 50th centile) and head circumference 44.4 cm (below 3rd centile) with normal head circumference of father (54 cm) and mother (51 cm). He also had hyperacusis, bilateral cherry-red spot, generalised hypotonia, brisk muscle stretch reflexes, bilateral Babinski's sign and no organomegaly. In view of infantile-onset neuroregression, microcephaly, seizures, cherry-red spot and spasticity, clinical diagnoses of GM2 (Tay-Sach's and Sandhoff's disease), GM1 gangliosidosis and Krabbe's disease were considered initially. Skull radiograph showed J-shaped...

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