Snapshot A 12-year-old boy presents to his pediatrician due to troubles with his gait and increasing difficulty in school. His parents also report him having a seizure episode, requiring stabilization at a local hospital. Neurological examination is notable for ataxia and decreased pain, temperature, and vibration sense in his bilateral lower extremities. He also has bilateral upgoing toes. An MRI brain demonstrates bilateral and symmetric white matter changes in the periventricular region. There is reduced arylsulfatase activity in his leukocytes. Introduction Definition login to view 1 more bullet Epidemiology Incidence login to view 1 more bullet Pathogenesis Arylsulfatase A deficiency (secondary to a gene mutation in most cases) leads to cerebroside sulfate accumulation login to view 1 more bullet Presentation Symptoms/physical exam login to view 13 more bullets Imaging MRI brain login to view 6 more bullets Studies Serum login to view 1 more bullet Urine login to view 1 more bullet Differential Krabbe disease login to view 2 more bullets Tay-sachs disease login to view 2 more bullets Treatment No effective treatment Complications Seizures Learning disabilities Gait difficulties Gallbladder complications