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I-cell disease.

Z M Patel, L M Ambani

    Journal of Inherited Metabolic Disease
    |January 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    This case report details I-cell disease in an infant, a rare lysosomal storage disorder. The diagnosis was confirmed by elevated lysosomal enzymes, with convulsions noted as a new symptom.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • I-cell disease, a severe lysosomal storage disorder, is characterized by deficient activity of multiple lysosomal enzymes due to a defect in the N-acetylglucosamine-1-phosphotransferase.
    • Clinical manifestations include coarse facial features, gingival hyperplasia, joint stiffness, and developmental delay, often mimicking Hurler syndrome.

    Observation:

    • A 6-month-old infant presented with severe psychomotor retardation, coarse facies, gingival hyperplasia, thick skin, and restricted joint movements.
    • Radiological findings were suggestive of Hurler syndrome, but urine analysis showed no excess mucopolysaccharide excretion.
    • The patient experienced repeated convulsions, a symptom not previously documented in I-cell disease.

    Findings:

    • The clinical presentation and absence of mucopolysacchariduria led to the suspicion of I-cell disease.

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  • Diagnosis was confirmed by markedly elevated serum levels of three lysosomal enzymes.
  • This report highlights repeated convulsions as a potential clinical feature of I-cell disease.

    • Implications:

    • This case expands the clinical spectrum of I-cell disease, including the novel presentation of repeated convulsions.
    • Early diagnosis is crucial for management and genetic counseling, despite the absence of mucopolysacchariduria.
    • This is the first reported case of I-cell disease from India, contributing to the understanding of its prevalence in diverse populations.