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

Accuracy of anti-tissue transglutaminase IgA antibody in the diagnosis of paediatric celiac disease

Objective: to determine the accuracy of anti-tissue transglutaminase IgA [TTG] antibody titer in the diagnosis of celiac disease, taking small intestine histopathology as the gold standard

Study Design: cross-sectional analytical study

Place and Duration of Study: department of Paediatrics, Benazir Bhutto Hospital, Rawalpindi, from February to July 2013

Methodology: sixty patients aged 2 - 13 years, admitted in the Paediatric Department of Benazir Bhutto Hospital, Rawalpindi, having at least 3 features from chronic diarrhea, malnutrition, short stature, anemia, abdominal distension and clubbing, were included. Age, gender, weight and height were recorded. Abdominal distension and clubbing were clinically noted. For hemoglobin, blood complete picture was done. For determination of nutritional status and short stature, standard centile charts were used. TTG titer upper GI endoscopy, duodenal biopsy, and histopathology were done in all cases

Results: there were 60 patients; 32 males, 28 females with mean age of 5.85 +/- 3.36 years. Frequency of CD was 63.33% in study population. Sensitivity of TTG was 86.84%, with 81.82% specificity, 89.19% positive predictive value, and 78.26% negative predictive value for diagnosing CD. TTG titre more than 50 iu/ml had a 100% positive predictive value

Conclusion: TTG is an excellent screening test for the diagnosis of paediatric CD. TTG value > 50 IU/ml has 100% positive predictive value

Diarrheal versus non-diarrheal presentations of paediatric celiac disease

Objective: to compare the frequencies and clinical features of diarrheal versus non-diarrheal presentation of celiac disease [CD]

Study Design: cross-sectional study

Place and Duration of Study: paediatric Department, Benazir Bhutto Hospital, Rawalpindi, from January to December 2013

Methodology: children with celiac disease, newly diagnosed on the basis of tissue transglutaminasel [TTG] and intestinal histopathology, were included in the study by consecutive non-probability sampling. Patients were divided into diarrheal and non-diarrheal groups on the basis of presence or absence of chronic or recurrent diarrhea. Comparison between two groups was done and a p-value < 0.05 was considered significant

Results: total patients were 54 [26 males, 28 females] with mean age of 6.67 +/-3.35 years. Chronic diarrhea was present in 31 [57.4%] and absent in 23 [42.6%]. Patients in non-diarrheal group were diagnosed at a significantly later age [p=0.038] and had a greater frequency of severe malnutrition [p=0.02]. Short stature, anemia, rickets, clubbing and abdominal distension were equally prevalent. There was no significant difference in TTG value and intestinal histopathology among two groups

Conclusion: children with atypical presentation of CD had significant severe malnutrition and higher age at diagnosis than at diarrheal presentation