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Lysosomal storage disorders in Indian children with neuroregression attending a genetic center

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Abstract

Objective

To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes.

Design

Review of medical records.

Setting

Specialized Genetic Center.

Participants

432 children aged 3 mo-18 y having regression in a learned skill, selected from 1453 patients referred for diagnostic workup of various Lysosomal storage disorders (LSDs).

Methods

Plasma chitotriosidase, quantitative and qualitative glycosaminoglycans, and mucolipidosis-II/II screening followed by confirmatory enzyme study using specific substrate was carried out; Niemann-Pick disease Type-C was studied by fillipin stain method on skin fibroblasts.

Results

Total 309 children (71.5%) were diagnosed with different lysosomal storage disorders as the underlying cause of neuroregression. Plasma chitotriosidase was raised in 82 of 135; 64 (78%) of these had various LSDs. 69 out of 90 cases showed high excretion of glycoaminoglycans, and 67 (97.1%) of these were confirmed to have enzyme deficiency for various mucoplysaccharide disorders. While 3/90 children with positive I-cell screening had confirmed mucolipidosis-II/III disease. Among all, glycolipid storage disorders were the most common (50.2%) followed by mucopolysaccharidosis (MPS) (21.7%) and sulphatide degradation defect (17.5%). Neuronal ceroid lipofucinosis-1 & 2 (7.4%), mucolipidosis-II/III (1%), Sialic acid storage disorder (1%), Niemann-Pick disease type-C (1%) and Fucosidosis (0.3%) were observed with less frequency. Most common phenotypes in all subjects were cherry red spot (18.5%), hepatosplenomegaly (17.9%), coarse facies (15%), seizures (13.1%) and skeletal abnormalities (12.14%).

Conclusions

Lysosomal storage disorders are considered to be one of the common causes in children with regression in learned skill, dysmorphic features and cherry red spot. Among these, glycolipid storage disorders are the most common, followed by mucopolysaccharidosis.

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Authors and Affiliations

  1. From the Department of Biochemical and Molecular Genetics, FRIGE’s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India

    Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar & Frenny Sheth

  2. Department of Pediatric Neurology and Child Development Centre, KLES Prabhakar Kore Hospital, Belgaum, Karnataka, India

    Mahesh Kamate

  3. Department of Medicine, Sheth VS Hospital, Ellisbridge, Ahmedabad, India

    Heli Shah

  4. Department of Genetics, Sahyadri Medical Genetics and Tissue Engineering facility (SMGTEF), Pune, India

    Chaitanya Datar

Authors
  1. Jayesh Sheth
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  2. Mehul Mistri
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  3. Riddhi Bhavsar
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  4. Frenny Sheth
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  5. Mahesh Kamate
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  6. Heli Shah
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  7. Chaitanya Datar
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Correspondence to Jayesh Sheth.

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Sheth, J., Mistri, M., Bhavsar, R. et al. Lysosomal storage disorders in Indian children with neuroregression attending a genetic center. Indian Pediatr 52, 1029–1033 (2015). https://doi.org/10.1007/s13312-015-0768-x

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  • DOI: https://doi.org/10.1007/s13312-015-0768-x

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