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[Mucolipidoses type II. Case report].

Mariana Aracena1, Paulina Mabe, María Mena

  • 1Servicio de Pediatría, Servicio de Radiología, Hospital Sótero del Río, Unidad de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago de Chile.

Revista Medica De Chile
|June 7, 2003
PubMed
Summary

Mucolipidosis II is a rare genetic disorder causing Hurler-like features and developmental delays. Diagnosis involves elevated serum lysosomal enzymes, leading to early childhood death.

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Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Mucolipidosis II (ML-II), also known as I-cell disease, is a severe autosomal recessive lysosomal storage disorder.
  • It arises from a deficiency in N-acetylglucosamine-1-phosphotransferase, crucial for lysosomal enzyme targeting.

Observation:

  • The case involved a female newborn presenting with disproportionate dwarfism, coarse facial features, and restricted joint mobility.
  • Progressive psychomotor retardation and recurrent pneumonia were noted, consistent with ML-II.
  • The patient exhibited extremely elevated serum lysosomal enzyme activity.

Findings:

  • The enzyme deficiency prevents proper mannose-6-phosphate tagging of acid hydrolases.
  • This leads to uncontrolled extracellular secretion and intracellular depletion of lysosomal enzymes.

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  • The patient succumbed to the condition at 22 months of age.

    • Implications:

    • This case highlights the diagnostic markers and clinical trajectory of Mucolipidosis II.
    • Understanding the enzymatic defect is key for potential future therapeutic strategies.
    • Early diagnosis and supportive care are critical for managing affected infants.