Clinical and Radiologic Diagnosis of Maroteaux-Lamy Syndrome

Aamir Jalal Al Mosawi

Affiliations: Advisor in Pediatrics and Pediatric Psychiatry Children Teaching Hospital of Baghdad Medical City, Head, Iraq Headquarter of Copernicus Scientists International Panel Baghdad, Iraq

*Corresponding author: Al-Mosawi AJ, Advisor in Pediatrics and Pediatric Psychiatry Children Teaching Hospital of Baghdad Medical City, Head, Iraq Headquarter of Copernicus Scientists International Panel Baghdad, Iraq, Email: almosawiaj@yahoo.com

Citation: Al-Mosawi AJ (2020) Clinical and Radiologic Diagnosis of Maroteaux-Lamy Syndrome. World J Nutr Metabol Diet, 1(1);1-3

Copyright: Â© 2020, Al-Mosawi AJ, This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.

ABSTRACT

Background: Diagnosis of rare diseases or disorders is understandably challenging because it is unfeasible for practicing physicians to make themselves familiar with hundreds of rare disease. The diagnosis of rare inherited metabolic syndromes such as mucopolysaccharidoses is additionally complicated by the lack of confirmatory sophisticated laboratory tests in many areas of the world. In the more developed countries, the diagnosis of mucopolysaccharidoses depends on urine tests for excessive mucopolysaccharides and enzyme assays. However, theses tests are not easily accessible in countries like Iraq, and the diagnosis has to rely on clinical and radiological findings. Materials and Methods: The clinical and radiologic diagnosis of an Iraqi patient with Maroteaux-Lamy syndrome is described. Results: The clinical diagnosis of this girl with early onset mucopolysaccharidosis and the abnormalities were recognizable before the age of two. The clinical a radiologic diagnosis was Maroteaux Lamy syndrome because of the absence of mental retardation and the presence of hepatosplenomegaly. Conclusion: Clinical diagnosis of rare metabolic syndromes like mucopolysaccharidoses requires magnificent clinical skills and huge experience because of the similarity between various types of mucopolysaccharidoses.

KEYWORDS: Maroteaux Lamy syndrome, Diagnostic challenge, Iraq

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