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The Indian Journal of Pediatrics

, Volume 62, Issue 5, pp 611–614 | Cite as

Mucolipidoses—II: a report of three cases

  • Shivkumar G. Lalwani
  • Archana Kher
  • Nirmala Shridhar
  • B. A. Bharucha
  • Gautami G. Naik
Clinical Brief
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Abstract

Mucolipidoses II is a rare lysosomal storage disorder with autosomal recessive inheritance. There cases with typical clinical features in early infancy like coarse facial features, severe psychomotor retardation and joint contractures are being reported. All the cases had no mucopolysacchariduria. These cases had normal values of lysosomal enzymes in leucocytes but markedly increased values in serum thus confirming mucolipidoses II. Despite the fact that there is no specific treatment, genetic counselling and prenatal diagnosis is indicated.

Key words

Lysosomal storage Mucolipidoses-II 

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Copyright information

© Dr. K C Chaudhuri Foundation 1995

Authors and Affiliations

  • Shivkumar G. Lalwani
    • 1
  • Archana Kher
    • 1
  • Nirmala Shridhar
    • 1
  • B. A. Bharucha
    • 1
  • Gautami G. Naik
    • 1
  1. 1.Genetic Clinic, Department of PediatricsKing Edward VII Memorial HospitalBombay

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