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Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center

Jayesh Sheth1, Mehul Mistri, Riddhi Bhavsar

  • 1Department of Biochemical and Molecular Genetics, FRIGEs Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad; Department of Pediatric Neurology and Child Development Centre, KLES Prabhakar Kore Hospital, Belgaum, Karnataka; * Department of Medicine, Sheth VS Hospital, Ellisbridge, Ahmedabad; and Department of Genetics, Sahyadri Medical Genetics and Tissue Engineering facility (SMGTEF), Pune; India. Correspondence to: Dr Jayesh J Sheth, Department of Biochemical and Molecular Genetics, FRIGEs Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380 015, India. jshethad1@gmail.com.

Indian Pediatrics
|December 30, 2015
PubMed

Insights

Lysosomal storage disorders (LSDs) are a common cause of neuroregression in children. Glycolipid storage disorders are the most frequent type, followed by mucopolysaccharidosis.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Neuroregression in children, characterized by loss of learned skills, can stem from various underlying causes.
  • Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases affecting enzyme function within lysosomes.
  • Identifying the specific etiology of neuroregression is crucial for timely diagnosis and management.

Purpose of the Study:

  • To investigate the role of lysosomal enzyme deficiencies in the etiology of neuroregression in pediatric patients.
  • To determine the prevalence of different types of LSDs contributing to neuroregression.

Main Methods:

  • A retrospective review of medical records was conducted for 432 children aged 3 months to 18 years presenting with neuroregression.
  • Diagnostic workup included plasma chitotriosidase assays, glycosaminoglycan analysis, mucolipidosis screening, and specific enzyme studies.
  • Niemann-Pick disease Type-C was assessed using the filipin stain method on skin fibroblasts.

Main Results:

  • Lysosomal storage disorders were diagnosed in 71.5% (309/432) of children with neuroregression.
  • Glycolipid storage disorders were the most common (50.2%), followed by mucopolysaccharidosis (21.7%) and sulphatide degradation defects (17.5%).
  • Common clinical phenotypes included cherry red spot (18.5%), hepatosplenomegaly (17.9%), coarse facies (15%), seizures (13.1%), and skeletal abnormalities (12.14%).

Conclusions:

  • Lysosomal storage disorders are a significant cause of neuroregression in children, often presenting with dysmorphic features and cherry red spots.
  • Glycolipid storage disorders represent the most prevalent category of LSDs associated with neuroregression, followed by mucopolysaccharidosis.
Abstract

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