Neuroregression, coarse features, and oligosaccharides in urines
2017
A 5-year-old boy, the product of a consanguineous marriage, presented with neuroregression; and spasticity since the age of one year. There were no seizures. His sister, aged 3 years had similar features. Examination revealed impaired cognition, generalized spasticity, brisk deep tendon reflexes,
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