Unusual pulmonary findings in mucolipidosis II

• Published in: Pediatric pulmonology Vol. 47; no. 7; pp. 719 - 721
• Main Authors: Ishak, Marleine, Zambrano, Eduardo V., Bazzy‐Asaad, Alia, Esquibies, Americo E.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.07.2012; Wiley-Liss
• Subjects: Biological and medical sciences; bone marrow transplantation (BMT); Carbohydrates (enzymatic deficiencies). Glycogenosis; Cord Blood Stem Cell Transplantation; Errors of metabolism; General aspects; Hemosiderosis - enzymology; Hemosiderosis - genetics; Hemosiderosis - pathology; hemosiderosis, bronchoscopy; Hemosiderosis, Pulmonary; Humans; Infant; Lung Diseases - enzymology; Lung Diseases - genetics; Lung Diseases - pathology; Male; Medical sciences; Metabolic diseases; Metals (hemochromatosis...); Mucolipidoses - complications; Mucolipidoses - enzymology; Mucolipidoses - genetics; Mucolipidoses - pathology; Mucolipidoses - surgery; mucolipidosis; Mutation; Other metabolic disorders; Pneumology; Pulmonary Fibrosis - enzymology; Pulmonary Fibrosis - genetics; Pulmonary Fibrosis - pathology; Transferases (Other Substituted Phosphate Groups) - genetics; Bronchoscopy; Pediatrics; Lung; Bone marrow transplantation; bone marrow transplantation (BMT); Metabolic diseases; Iron; Enzymopathy; Hemosiderosis; Genetic disease; Mucolipidosis; Carbohydrate; Endoscopy; Pneumology
• ISSN: 8755-6863; 1099-0496
• DOI: 10.1002/ppul.21599

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. Pediatr Pulmonol. 2012; 47:719–721. © 2011 Wiley Periodicals, Inc.