Unusual pulmonary findings in mucolipidosis II

Pediatr Pulmonol. 2012 Jul;47(7):719-21. doi: 10.1002/ppul.21599. Epub 2011 Dec 7.

Abstract

We report undescribed pulmonary findings in a child with mucolipidosis II (ML-II). Children with ML-II bear significant pulmonary morbidity that may include extensive pulmonary fibrosis, persistent hemosiderosis as well as pulmonary airway excrescences as they reach preschool age.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Cord Blood Stem Cell Transplantation
  • Hemosiderosis / enzymology
  • Hemosiderosis / genetics*
  • Hemosiderosis / pathology
  • Hemosiderosis, Pulmonary
  • Humans
  • Infant
  • Lung Diseases / enzymology
  • Lung Diseases / genetics*
  • Lung Diseases / pathology
  • Male
  • Mucolipidoses / complications*
  • Mucolipidoses / enzymology
  • Mucolipidoses / genetics*
  • Mucolipidoses / pathology
  • Mucolipidoses / surgery
  • Mutation
  • Pulmonary Fibrosis / enzymology
  • Pulmonary Fibrosis / genetics*
  • Pulmonary Fibrosis / pathology
  • Transferases (Other Substituted Phosphate Groups) / genetics

Substances

  • Transferases (Other Substituted Phosphate Groups)
  • GNPTAB protein, human