i(3)so3-galactosylceramide and Chromosome-Deletion

Phelan-McDermid syndrome or 22q13.3 deletion syndrome is a rare neurodevelopmental disorder characterized by neonatal hypotonia, severe speech delay, moderate to profound intellectual disability, and minor dysmorphic features. Regression of developmental milestones is often recognized as characteristic of this syndrome. We report a 6-year-old patient with Phelan-McDermid syndrome who presented with rapid neurologic deterioration secondary to metachromatic leukodystrophy due to a mutation of the arylsulfatase A gene (

Topics: Arylsulfatases; Brain; Child; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 22; Diagnosis, Differential; Female; Humans; Leukodystrophy, Metachromatic; Magnetic Resonance Spectroscopy; Sulfoglycosphingolipids