Abstract
Introduction: Sandhoff disease is a rarely sosomal storage disorder with autosomal recessive inheritance. It is caused by the deficiency of both hexosaminidase A and B. It has been classified into three forms: infantile, juvenile and adult-onset type based on the age of onset and clinical features. There are very few cases of Juvenile Sandhoff disease reported from India.
Case Report: A 4-year 3-month-oldboy born out of third-degree consanguineous marriage second in birth order was brought by parents with complaints of regression of attained milestones since the past one year and seizures since three months. On examination, the child was wasted and stunted, head circumference at 3rd centile with no dysmorphic facies. There was exaggerated startle response, spastic quadriparesis, exaggerated deep tendon reflexes and truncal ataxia. His fundus examination revealed a bilateral cherry-red spot. GM2 gangliosidosis was suspected and ß-Hexosaminidase enzyme studies were sent. Total ß-Hexosaminidase A & B was decreased and child was diagnosed as Juvenile Sandhoff disease
Keywords: Juvenile Sandhoff disease, GM2 gangliosidosis.
References
- Sheth J, Mistri M, Sheth F, Shah R, Bavdekar A, Godbole K, et al. Burden of lysosomal storage disorders in India: Experience of 387 affected children from a single diagnostic facility. JIMD Rep.2014;12:51–63.
- Maegawa GHB, Stockley T, Tropak M, et al. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics. 2006;118(5):1550–62
- Nelson textbook of paediatrics 21 stedition. Elsevier publications.
- Zampieri S, Filocamo M, Buratti E, Stroppiano M, Vlahovicek K, Rosso N, et al. Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. Neurogenetics. 2009;10:49–58.
- Sandhoff K, Harzer K. Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis. Journal of Neuroscience. 2013;33(25):10195–208.
- McLeod PM, Wood S. Jan JE, Applegarth DA, Dolman CL. Progressive cerebellar ataxia, spasticity, psychomotor retardation and Hexosaminidase deficiency in a 10-year-old child: Juvenile Sandhoff Disease. Neurology (Minneap) 1977; 27: 571-573.
- Hendriksz CJ, Corry PC, Wraith JE, Besley GTN, Cooper A, Ferrie CD. Juvenile Sandhoff disease—Nine new cases and a review of the literature. Journal of Inherited Metabolic Disease. 2004;27(2):241–9.
- Unnikrishnan AG, Danda S, Seshadri MS. Juvenile Sandhoff Disease. Indian Pediatrics. 2001 Jan;38:89–92.
- NINDS Sandhoff Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS).
- Sandhoff Research. National Tay-Sachs & Allied Diseases Association. October 19, 2016.
Corresponding Author
Dr Aluru Ananya
Resident, Department of Paediatrics, NRI Medical College and General Hospital, Chinakakani,
Guntur – 522503, Andhra Pradesh, India
DOI: https://dx.doi.org/10.18535/jmscr/v8i1.145
