title: Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.
abstract: BACKGROUND
  Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles.
  
  
  METHODS
  This report presents a 22-month-old girl with infantile type Sandhoff disease that was hospitalized for generalized seizures and psychomotor retardation. She was diagnosed with a genetically proven novel mutation and by demonstrating it's specific imaging findings.
  
  
  CONCLUSIONS
  Determination of spesific changes in neuroimaging which are initial findings for GM2 gangliosidosis is important from the point of diagnosis and follow-up in infants suspected of having a neurodegenerative disease.
authors.affiliation: Department of Radiology, Afyon Kocatepe University, Faculty of Medicine, Afyonkarahisar, Turkey.
authors.forename: Mehtap
authors.initials: M
authors.lastname: Beker-Acay
authors.affiliation: Department of Medical Genetics, Afyon Kocatepe University, Faculty of Medicine, Afyonkarahisar, Turkey.
authors.forename: Muhsin
authors.initials: M
authors.lastname: Elmas
authors.affiliation: Department of Pediatrics, Afyon Kocatepe University, Faculty of Medicine, Afyonkarahisar, Turkey.
authors.forename: Resit
authors.initials: R
authors.lastname: Koken
authors.affiliation: Department of Radiology, Afyon Kocatepe University, Faculty of Medicine, Afyonkarahisar, Turkey.
authors.forename: Ebru
authors.initials: E
authors.lastname: Unlu
authors.affiliation: Department of Pediatrics, Afyon Kocatepe University, Faculty of Medicine, Afyonkarahisar, Turkey.
authors.forename: Aysegul
authors.initials: A
authors.lastname: Bukulmez
keywords: Brain Diseases, Metabolic; Lysosomal Storage Diseases, Nervous System; Magnetic Resonance Imaging; Sandhoff Disease