GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series)

Parvaneh KARIMZADEH--- 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran,
Narjes JAFARI--- 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran,
Habibeh NEJAD BIGLARI--- 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran,
Sayena JABBEH DARI--- 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran,
Farzad AHMAD ABADI--- 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran,
Mohammad-Reza ALAEE--- 4. Department of Pediatric Endocrinology, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran,
Hamid NEMATI--- 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran,
Sasan SAKET--- 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran,
Seyed Hassan TONEKABONI--- 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran,
Mohammad-Mahdi TAGHDIRI--- 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran,
Mohammad GHOFRANI--- 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Abstract


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How to Cite This Article: Karimzadeh P, Jafari N, Nejad Biglari H, Jabbeh Dari S, Ahmad Abadi F, Alaee MR, Nemati H, Saket S,
Tonekaboni SH, Taghdiri MM, Ghofrani M. GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series) Iran J Child Neurol. 2014 Summer;8(3): 55-60.

 

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.


Materials & 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%). 


Conclusion
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.

 

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Keywords


Sandhoff disease; Tay Sachs disease; Neurometabolic disorders; Genetic disorders

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DOI: http://dx.doi.org/10.22037/ijcn.v8i3.5759

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