Description
A 10-month-old male infant was brought to us with developmental stagnation since 5 months of age. He attained age-appropriate developmental milestones until 5 months of age, however over the next 2 months, he did not gain any new milestones followed by subsequent developmental regression in the form of loss of neck holding ability, social smile, mother regard, visual fixation and cooing. He was a first born to non-consanguineous parents, at term by caesarean delivery (due to non-progression of labour). The antenatal and perinatal periods were normal. There was no history of seizures, exaggerated startle response and extrapyramidal symptoms. The family history was unremarkable. On examination, he had normal head size (46.2 cm, 50th centiles), dysmorphic facial features (flat nasal bridge, hypertelorism, thick upper lip and upturned nose), bilateral cherry-red spots, extensive Mongolian spots (figure 1) and hepatomegaly. He also had generalised hypotonia, hyperactive muscle stretch reflexes and bilateral...
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