Global Disparities in Newborn Genetic Screening and Treatments | Neurology® Journals
The first patient of the morning in my neurogenetics clinic at Johns Hopkins Hospital (United States) is a 26-month-old girl with mild developmental delays. When she was evaluated by the developmental pediatrician, she was noted to be ataxic, which prompted a brain MRI. This revealed signal abnormalities in the white matter suspicious for a leukodystrophy. Lysosomal enzymes were sent off the week before and returned with a low arylsulfatase level. Because of the relatively high frequency of pseudodeficienc
