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

Symptomatic surgically treated non-neoplastic cysts of the central nervous system: a clinicopathological study from Pakistan

To report clinicopathologic features of symptomatic surgically removed non-neoplastic cysts of the central nervous system [CNS]. Case series. The Aga Khan University Hospital, Karachi, from 2003 to 2012. All non-neoplastic CNS cysts reported during the study period were retrieved and reviewed. Age, gender, location, histologic type and clinical features were noted. A total of 124 cysts were diagnosed in the study period. These included 44 epidermoid cysts [mean age 30.5 +/- 13.8 years], 35 colloid cysts [mean age 31 +/- 13.2 years], 32 arachnoid cysts [mean age 24.8 +/- 20.2 years], 6 dermoid cysts, 3 enterogenous cysts and Rathke's cleft cysts each and 1 ependymal cyst. All cyst types mainly presented in young adults in both genders with signs and symptoms of a mass lesion. Non-neoplastic cyst mainly presented like a CNS mass lesion in young adults. Epidermoids were the most common type of these cysts in the present series followed by the colloid and the arachnoid cysts

Clinical presentation and biochemical findings in children with glycogen storage disease type 1A

To determine the clinical pattern of presentation and biochemical characteristics of glycogen storage disease [GSD] type 1a in children at a tertiary referral centre. Descriptive/ cross sectional study. Department of Pediatric, division of Gastroenterology and Hepatology of the Children's hospital, Lahore over a period of 11 years. Confirmed cases of glycogen storage disease [clinical plus biochemical findings consistent with GSD 1a and proven on liver biopsy] were enrolled in this study from neonatal age till 18 years. Data was retrieved from files and electronic record for these cases. Diagnosis was made on the basis of history, clinical findings including hepatomegaly, hypertriglyceridemia, hypercholesterolemia, hypoglycemia and hyperuricemia [if present]. Diagnosis was confirmed on liver biopsy. Patients with other storage disorders and benign and malignant tumours were excluded from the study. Total patients included in the study were 360 with male to female ratio of 1.25:1. Median age at the time of diagnosis was 25.6 months [age range from one month to 18 years]. Most common presentation was abdominal distension [83%] followed by failure to thrive [69%] and recurrent wheezing and diarrhoea [44%] each. Seizures were present in only 1/3rd of children. Other presentations included vomiting, respiratory distress, altered sensorium, nephrocalcinosis, epistaxis and hypothyroidism. Few patients around 11% presented with acute hepatitis and later were diagnosed as GSD. Significant hepatomegaly was evident in almost all patients but nephromegaly was present in only 5.5% patients. All children had marked hypertriglyceridemia but cholesterol levels were raised in 1/3rd of children. A large majority of children had deranged ALT more than 2 times of normal and around 38% children had marked anemia. Significant hypoglycemia and metabolic acidosis was documented in around 1/3rd of children. Hyperuricemia was not a constant feature [16%]. This study showed abdominal distension and failure to thrive with hepatomegaly a common presentation with hypertriglyceridemia a constant feature. Huge number of patients in this study showed common metabolic disorder in children with diverse clinical presentation

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

Sonographic evaluation of the triangular cord sign in the diagnosis of biliary atresia, confirmed with needle liver biopsy

Neonatal cholestasis continues to present a diagnostic challenge for pediatric surgeons. Various diagnostic protocols are available, often involving invasive procedures which are generally not available in the district general hospitals. The objective of this study is to evaluate the role of Triangular Cord sign [TC sign] on ultrasound for the prompt and easy diagnosis of biliary atresia in infants. A prospective study was planned. Patients with positive TC sign underwent needle liver biopsy for confirmation. Infants with neonatal cholestasis were referred from the gastroenterology department. Abdominal ultrasound was performed with 3-6MHz convex and 6-10MHz linear transducers on Core Vision, Toshiba by a single paediatric radiologist and results were correlated with needle biopsy of the liver interpreted by the histopathologist. Thirty nine Infants with cholestatic jaundice underwent ultrasound and biopsy. Twenty patients were diagnosed on ultrasound as biliary atresia on the basis of positive triangular cord sign and 18 of them were confirmed on biopsy

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