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

Spectrum of inherited metabolic disorders in pakistani children presenting at a tertiary care centre

Objective: To determine the frequency, presentation and outcome of various inherited metabolic diseases in children presenting in a tertiary care hospital, Lahore, Pakistan

Study Design: An observational study

Place and Duration of Study: Gastroenterology, Hepatology and Nutrition Department of The Children Hospital and Institute of Child Health, Lahore, from January 2011 to October 2014

Methodology: All children aged < 14 years with high suspicion of a metabolic disorder were inducted. Routine and radiological investigation were carried out at the study place. Comprehensive diagnostic testing of particular metabolic disorder was sent abroad. Those with a specific metabolic disorder were included in the study while those with normal metabolic work-up were excluded. All data was collected on preformed proforma

Results: A total of 239 patients were enrolled. Nineteen different types of inherited metabolic disorders were diagnosed in 180 patients; age ranged from 8 days to 14 years. Consanguinity was positive in 175 [97%] among the parents of the affected children, with previously affected siblings in 64 [35.5%]. The most frequent disorders were inherited disorders of carbohydrate metabolism [92, 51%], lipid storage disease [59, 32.7%], organic acidemia and energy defects [18, 10%], amino acid disorder [6, 3.3%], and miscellaneous [4, 2.2%]. Fifty-eight [32.2%] presented with acute metabolic crisis, 28 [15.5%] patients presented with early onset liver failure, and 24 [13.3%] with mental retardation. Out of these, 16 [8.8%] expired

Conclusion: Glycogen storage disorders being the commonest followed by Gaucher disease and Galactosemia. The associated complications resulted in high morbidity and mortality