title: GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).
abstract: OBJECTIVE
  GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB.
  
  
  METHODS
  Patients who were diagnosed withGM2-Gangliosidosis in the Neurology Department of Mofid Children's Hospital in Tehran, Iran from October 2009 to February 2014were included in our study. The disorder was confirmed by neurometabolic and enzyme level detection of hexosaminidases A, B, and AB in reference to Wagnester Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 9 patients with Sandhoff disease and 9 with Tay Sachs disease.
  
  
  RESULTS
  83% of our patients were the offspring of consanguineous marriages. All of them had a developmental disorder as a chief complaint. 38%of patients had a history of developmental delay or regression and 22% had seizures. The patients with Sandhoff and Tay Sachs disease were followed for approximately 5 years and the follow-up showed all patients were bedridden or had expired due to refractory seizures, pneumonia aspiration, or swallowing disorders. Neuro-imaging findings included bilateral thalamic involvement, brain atrophy, and hypo myelination in near half of our patients (48%).
  
  
  CONCLUSIONS
  According to the results of this study, we suggest that cherry-red spots, hyperacusis, refractory seizures, and relative parents in children with developmental delay and/or regression should be considered for assessment of GM2-Gangliosidosis disease.
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran ; Pediatric Neurology Center of Excellence, Department of Pediatric Neurology, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Parvaneh
authors.initials: P
authors.lastname: Karimzadeh
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Narjes
authors.initials: N
authors.lastname: Jafari
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Habibeh
authors.initials: H
authors.lastname: Nejad Biglari
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Sayena
authors.initials: S
authors.lastname: Jabbeh Dari
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran ; Department of Pediatric Neurology, Ardebil University of Medical Sciences, Ardabil, Iran.
authors.forename: Farzad
authors.initials: F
authors.lastname: Ahmad Abadi
authors.affiliation: Department of Pediatric Endocrinology, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad-Reza
authors.initials: MR
authors.lastname: Alaee
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Hamid
authors.initials: H
authors.lastname: Nemati
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Sasan
authors.initials: S
authors.lastname: Saket
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran ; Pediatric Neurology Center of Excellence, Department of Pediatric Neurology, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Seyed Hasan
authors.initials: SH
authors.lastname: Tonekaboni
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran ; Pediatric Neurology Center of Excellence, Department of Pediatric Neurology, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad-Mahdi
authors.initials: MM
authors.lastname: Taghdiri
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran ; Pediatric Neurology Center of Excellence, Department of Pediatric Neurology, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Ghofrani
keywords: Genetic disorders; Neurometabolic disorders; Sandhoff disease; Tay Sachs disease