Neuroregression, coarse features, and oligosaccharides in urines

Abstract

Neuroregression, coarse features, and oligosaccharides in urines Clinical PresentationA 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, and bilateral extensor plantar responses. The head circumference was normal, and there was mild facial coarsening. There were no organomegaly, or angiokeratomas, and the ophthalmological examination was unremarkable. A brain MRI/MR spectroscopy was performed and is shown in (Figures 1 and 2).