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

Chanarin-Dorfman syndrome

Chanarin-Dorfman syndrome is a rare, genetically determined autosomal recessive disorder, characterised by the presence of lipid droplets in the cytoplasm of multiple tissues of the body, particularly in the blood leukocytes and congenital non-bullous icthyosiform erythroderma. In this paper, we report one-year child who presented with skin lesions since birth and hepatomegaly. Liver biopsy showed steatohepatitis; and peripheral blood smear confirmed Jordan`s anomaly, which is a permanent feature of Chanarin-Dorfman syndrome

Hookworm infestation in children presenting with melena-case series

Hookworm infection is common in children and can present with symptoms of upper gastrointestinal bleeding and severe anemia. Ten children below 5 years presenting with melena and severe pallor were seen from December 2006 to May 2007 in the gastroenterology and hepatology department of children's hospital, Lahore. All patients had history of transfusion. Complete blood picture, eosinophil count with peripheral smear, stool complete examination for ova and cysts were performed in all cases, while upper and lower gastrointestinal endoscopies were performed in three patients to locate the source of bleeding. Stool routine examination in all these cases confirmed hook worm ova. These patients were managed with antihelmenthic and stool complete examination was done three days after the medicine. There was no mortality. Though upper gastrointestinal bleeding with hookworm infestation is very rare but in the developing countries it should be considered when other causes of upper gastrointestinal bleeding are ruled out

Galactosaemia - presentation, diagnosis and management

Galactosaemia is a rare autosomal recessive metabolic disorder. It presents in early life with hypoglycaemia and encephalopathy or progressive jaundice followed by liver failure. Cataract may be visible on naked eye examination. Diagnosis is highly suggested by detecting reducing substances in urine without glycosuria in an infant with hepatic dysfunction. Dietary therapy by elimination of galactose is the mainstay of treatment. The outcome for treated galactosaemia is not yet optimal. This paper reports the experience of presentation, diagnosing and management of galactosaemia at The Childrens Hospital and the Institute of Child Health, Lahore. This paper presents a prospective, observational study from January 1999 to April, 2004. Diagnosis was made on the criteria including [a] clinical presentation of a neonate with hepatic dysfunction, [b] strongly positive urine reducing substances with the absence of glycosuria as determined by negative Clinistix test and [c] rapid clinical improvement on elimination of galactose from the diet of infants. Diagnosis of galactosaemia was made in 18 infants over the study period. Their age at presentation ranged from 35 days - 9 months [median 10 weeks]. There were 12 males and 6 females [M/F ratio 2:1]. Most common mode of presentation was fulminant hepatic failure [FHF]. Cataract was present in the majority of patients. Laboratory values showed raised bilirubin and universal coagulopathy. Fourteen patients responded to galactose elimination and showed initial dramatic improvement in clinical and lab parameters. Four patients [22%] died. Galactosemia is not uncommon in our community; diagnosis needs to be suspected in sick neonates and infants with severe hepatic dysfunction. Early galactose elimination from diet leads to dramatic clinical improvement