Mucopolysaccharidoses - Clinical Spectrum and Frequency of Different Types.

OBJECTIVE

To determine the relative frequency and clinical features of different varieties of mucopolysaccharidosis.

STUDY DESIGN

Descriptive study.

PLACE AND DURATION OF STUDY

Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, from January 2013 to December 2015.

METHODOLOGY

All patients who had any feature suggestive of mucopolysaccharidosis were screened with detailed history, clinical examination and skeletal survey. Urine samples for glycosaminoglycan (GAGs) levels and dried blood samples for enzyme analysis were sent. Patients who were confirmed to be suffering from mucopolysaccharidosis were included in the study. The data was analysed using SSPS version 20.

RESULTS

A total of 90 confirmed MPS cases, 52 males and 38 females, median age 42 months, were included. Hurler/Hurler-Scheie syndrome was the most frequent (75, 83.33%) followed by Morquio (6, 6.67%), Sanfilippo (5, 5.56%), Maroteaux-Lamy (3, 3.33%) and Hunter (1, 1.11%) syndromes. Consanguinity was present in 79 (87.78%) cases. Common features were hepatomegaly (80, 88.89%), coarse facies (70, 77.78%), splenomegaly (67, 74.44%), and bone disease (48, 53.33%).

CONCLUSION

Most common variety of mucopolysaccharidosis was Hurler/Hurler Scheie followed by Morquio syndrome. Most of the patients were born to consanguineous parents. Common clinical features were coarse facies, hepatosplenomegaly and dysostosis multiplex.