title: Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center.
abstract: OBJECTIVE
  To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes.
  
  
  METHODS
  Review of medical records.
  
  
  METHODS
  Specialized Genetic Center.
  
  
  METHODS
  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 of 90 children with positive Icell 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 lipofucinosis1 and 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.
authors.affiliation: Department 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.
authors.forename: Jayesh
authors.initials: J
authors.lastname: Sheth
authors.forename: Mehul
authors.initials: M
authors.lastname: Mistri
authors.forename: Riddhi
authors.initials: R
authors.lastname: Bhavsar
authors.forename: Frenny
authors.initials: F
authors.lastname: Sheth
authors.forename: Mahesh
authors.initials: M
authors.lastname: Kamate
authors.forename: Heli
authors.initials: H
authors.lastname: Shah
authors.forename: Chaitanya
authors.initials: C
authors.lastname: Datar
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D002658:Developmental Disabilities; D005817:Genetic Counseling; D006801:Humans; D007194:India; D007223:Infant; D016464:Lysosomal Storage Diseases