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I-cell disease (Mucolipidosis II).

M Kabra1, S Gulati, M Kaur

  • 1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.

Indian Journal of Pediatrics
|October 12, 2000
PubMed
Summary

I-cell disease (Mucolipidosis II), a lysosomal storage disorder, presents neonatally with severe symptoms. Diagnosis in a patient and fetus highlights the need for early identification of this rare genetic condition.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • I-cell disease (Mucolipidosis II) is a rare lysosomal storage disorder.
  • It presents in the neonatal period and mimics severe mucopolysaccharidoses without mucopolysacchariduria.

Observation:

  • Fibrocytes in Mucolipidosis II patients display abnormal lysosomes.
  • Lysosomal enzyme activities are reduced in fibroblast cultures but elevated in patient serum.

Findings:

  • A case of I-cell disease was diagnosed using clinical, radiological, and biochemical data.
  • Prenatal diagnosis confirmed I-cell disease in a fetus of an affected patient's mother.

Implications:

  • This case underscores the importance of comprehensive diagnostic approaches for I-cell disease.

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  • Prenatal diagnosis allows for informed reproductive choices and potential early intervention planning.