Is hepatovenocaval syndrome a different entity from budd-chiari syndrome in children?

Objective: To differentiate between clinical and demographic spectrum, and outcome in hepatovenocaval syndrome [HVCS] and Budd-Chiari syndrome [BCS]. Study Design: Descriptive study. Place and Duration of Study: Division of Pediatric Gastroenterology, Hepatology and Nutrition, The Children Hospital, Lahore, from January 2014 to January 2017

Methodology: All children less than 18 years of age, presenting with ascites and visible veins over abdomen, flanks and back were enrolled in the study. Real time Doppler Ultrasonogram was performed in all children for documentation of intrahepatic part of IVC obstruction along with or without hepatic venous obstruction. Children meeting inclusion criteria underwent liver profile, coagulation profile, diagnostic paracentesis for SAAG gradient, and Gadolinium enhanced multiphasic MR scan. Liver biopsy and venography was performed in selected patients

Results: A total of 92 children presented with ascites, among them 58 children met our inclusion criteria. Intrahepatic IVC obliteration, i.e. HVCS, found in 67% [n=39] and hepatic venous outflow obstruction, i.e. BCS was found in 33% [n=19] children. Children with BCS were older than HVCS with mean age of 9.5 +/-2.58 versus 4.12 +/-0.977 years. HVCS group had 14 boys and 24 girls with a ratio of 1:1.8, while BCS had a ratio of 1:0.9 with 10 boys and 9 girls. No etiological factor was found for HVCS, while most of patients with BCS had a procoagulant disorder. Caudate lobe hypertrophy was a consistent feature in BCS, while IVC obstruction was found in HVCS persistently. Orthotopic liver transplant was needed in three cases [7.6%] of HVCS and four [20.96%] of BCS cases. Antibiotic therapy has a good role in HVCS, while anticoagulation and diuretics had good result in BCS

Conclusion: Hepatovenocaval syndrome [HVCS] mostly affected younger children, especially girls. BCS usually affected older age groups with pro-coagulant disorders who responded to anticoagulation and diuretic. Further studies are needed to compare both conditions

Berardinelli-seip congenital generalised lipodystrophy

Berardinelli-Seip congenital lipodystrophy [BSCL] syndrome is a rare genetic disorder caused by dysregulation of glycemic and lipid metabolism. We report five BSCL cases with typical clinical pictures and complications. These, to the best of our knowledge, represent the first case series from Pakistan. BSCL is characterized by marked atrophy of adipose tissue, acromegaly, acanthosis nigricans and tall stature. We could not perform genetics studies in any patient owing to non-availability of genetic laboratory in Pakistan. All the cases presented hypertriglyceridemia. One case developed hyperinsulinism controlled with metformin. There is no curative treatment and the current approach is low-fat diet and management of insulin resistance and diabetes. Recently published studies showed that leptin-replacement therapy is promising in the metabolic correction of complications of BSCL. This highlights the importance of further research in BSCL treatment

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