Haemaphagocytic lymphohistiocytosis presenting as neonatal liver failure: a case series

Background and study aim: Haemophagocytic lymphohistiocytosis [HLH] is a life-threatening clinical syndrome with liver involvement varying from mild dysfunction to severe fulminant failure. The aim of this study was to present a case series of four HLH patients presenting with acuw liver failure [ALF] in the neonatal period

Patients and methods: All four patients were neonates at the onset of symptoms. They presented to Cairo University Pediatric Hospital with ALF; they underwent prompt investigations including determination of ferritin, fibrinogen, and higlyceride levels as part of our ALF workup. Further investigations were tailored according to the associated clinical features and the results of preliminary investigations

Results: HLH was diagnosed according to HLH-2004 criteria. Three patients fulfilled at least five out of eight criteria. Fever, splenomegaly, elevated ferktin levels, and low fibrinogen levels were present in all patients. The fourth patient had a serum ferritin level >10,000 nglml, favouring the diagnosis of HLH, despite fullilling only four out of eight criteria. For three patients, positive consanguinity and previous sibling death were reported, suggesting a genetic aetiology of HLH

Conclusion: ALF can be the presenting feature of HLH; thus, a high index of suspicion is necessary. Fever is a hallmark, especially in neonates. Diagnosis is important for this potentially treatable condition

Blind percutaneous liver biopsy in infants and children: comparison of safety and efficacy of percussion technique and ultrasound assisted technique

Background and study aims: Liver biopsy remains the most reliable method to diagnose various hepatic disorders in children. We aimed to assess the technical success and complication rate of ultrasound [US] assisted percutaneous liver biopsy versus transthoracic percussion guided technique in paediatrics

Patients and methods: This randomized controlled study included all cases performing liver biopsy at Paediatric Hepatology Unit, Cairo University Paediatric Hospital over 12 months

Results: Patients were 102 cases; 62 were males, with age range 18 days to 12 years. Fifty seven procedures were done using the percussion guided technique and 45 cases were US assisted. The total number of complicated biopsies was 14 [13.7%], with more serious complications occurring in the percussion group. Complications were more frequent with younger age, lower platelet count, number of passes and occurrence of hypotension

Conclusion: US assisted percutaneous liver biopsy, although more costly, but may be safer to perform particularly in younger age

Chanarin-Dorfman syndrome: a case report and review of the literature

Chanarin-Dorfman syndrome, a "neutral lipid storage disease with ichthyosis," is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in various types of cells. Case report: A 3-year-old male presented to the Pediatric Hepatology Unit, Cairo University Children's Hospital, Cairo, Egypt, with accidentally discovered hepatomegaly. He had generalised ichthyosis with dark skin pigmentation and bilateral ectropion. Abdominal examination revealed generalised abdominal distention with firm nontender hepatomegaly. His liver functions were deranged. Blood film showed many vacuolated neutrophils. Serum triglyceride and creatine kinase levels were elevated. Abdominal ultrasound showed a moderately enlarged liver with a bright echo pattern. Liver biopsy revealed marked diffuse macrovesicular fatty changes. The diagnosis of Chanarin-Dorfman Syndrome was made based on the dermatological, haematological, and liver biopsy findings

Acute pancreatitis complicating acute hepatitis a virus infection

Acute pancreatitis complicating acute hepatitis A is very rare especially in children. We report here an 11 year old female patient with picture of acute hepatitis proved to be caused by hepatitis A. One week later patient's condition worsened, she was jaundiced, with persistent vomiting and looked acutely ill and uncomfortable with severe steady abdominal pain mainly in the epigastrium and upper quadrants. Acute pancreatitis was suspected and proved by a clinical picture associated with elevated serum amylase and serum lipase and by MRCP. The patient was managed conservatively with gradual clinical and laboratory improvement, and she was discharged after one week in a good clinical condition

clinical study of Wilson's disease: the experience of a single Egyptian paediatric hepatology unit

Most paediatric patients with Wilson's disease [WD] present with hepatic manifestations, but some may have neurologic or psychiatric features. Our aim was to define the clinical, biochemical features and the outcome of therapy of a group of Egyptian children diagnosed with WD. The study was carried out at the Paediatric Hepatology Unit at Cairo University Children's Hospital, Egypt; 54 patients were diagnosed with WD from 1996 to 2009. The diagnosis was based on low serum ceruloplasmin levels, increased urinary copper concentrations before or after D-penicillamine challenge and/or the presence of Kayser-Fleischer [K-F] rings. The clinical presentation was as follows: hepatic presentation in 33 patients [61%], hepato-neurologic 3 [5.5%], neurologic 5 [9.3%] and presymptomatic 13 [24%]. Twelve couples had more than one affected sib. Increased urinary copper concentrations before or after D-penicillamine challenge was found in all patients, low serum ceruloplasmin in 97% and K-F rings in 31.5%. All patients were treated with penicillamine and zinc sulphate except one presymptomatic case who was treated with zinc sulphate only. Three patients underwent liver transplantation and eight patients died after a median duration of treatment of 6 months [1-36]. The hepatic symptoms improved with treatment but the neurological symptoms remained stationary. Clinical and biochemical assays remain the standard for diagnosis of WD. Penicillamine and zinc therapy can effectively treat WD with hepatic symptoms. Liver transplantation remains life saving for those with fulminant and end stage WD. Screening for presymptomatic sibs is of utmost importance

Factors associated with fibrosis progression in HCV infected children in Egypt

This study aimed at identification of factors that could be associated with development of hepatic fibrosis in children with HCV infection. The study was carried out at the Pediatric Hepatology Unit, Cairo University Children's Hospital, Egypt. Liver biopsies were obtained from 43 children with HCV infection after having informed consent from their parents in the period "1995-2002". Their mean age at liver biopsy was and 8.67 +/- 4.3 years. Boys: girls ratio was 1.3:1. The results proved that, by examining the 43 patients' biopsies, 12 were having no fibrosis, 20 were having mild fibrosis and 11 were having moderate to severe fibrosis. The median time for development of fibrosis was estimated to be 5.5 years. Developing fibrosis was significantly associated with shorter duration from first detected ALT elevation to biopsy [P =0.015] and having higher levels of direct serum bilirubin [P Value=0.048]. Unexpectedly, development of fibrosis was slower in the group with co- morbid conditions compared to the group with no co-morbid conditions [P =0.04]. The development of hepatic fibrosis in children with HCV infection was associated with shorter duration of first detected ALT elevation to biopsy and higher direct serum bilirubin levels and it was progressing more slowly in the group having co-morbid conditions

Esophageal varices: a common upper endoscopic finding in Egyptian children undergoing upper endoscopy

Acute upper gastrointestinal bleeding continues to be a common cause of hospital admission and morbidity and mortality. Bleeding esophageal varices is a life - threatening complication in children with portal hypertension. This study is a one year retrospective study presenting the results and experiences with 937 fiber optic oesophagogastro-duodenoscopies [EGD], which were performed at the Endoscopy Unit in Cairo University Pediatric Hospital [CUPH] between August 2003 and July 2004. We aimed at identifying the prevalence of esophageal varices among children subjected to upper endoscopic examination, and to outline the possible cause of portal hypertension in this group of patients. Among the 937 UGEs done for 730 patients, 313 [33.4%] revealed esophageal varices. Theses were done for 147 patients with some male predominance, where 88[59.8%] patients were males and 59 [40.1%] were females, their ages ranged between 7 months and 14 years. Eighty three [56.5%] of the 147 patients with esophageal varices were diagnosed as having prehepatic portal hypertension secondary to portal vein thrombosis [PVT] and the remaining 64 [43.5%] had intrahepatic catases for portal hypertension. Hematemesis occurred more frequently and earlier in the former group who were also lacking stigmata of liver disease. Esophageal varices were encountered in one third of the studied patients. A baby presenting with hematemesis and lacking stigmata of liver disease, particularly jaundice and hepatomegaly, should be suspected of having PVT and an endoscopist experienced in sclerotherapy and/or band variceal ligation in this young age has to perform the upper endoscopy

Safety and efficacy of rifampicin in children with cholestatic pruritus

Objective: The present study aimed at verifying the safety and efficacy of rifampicin in ameliorating pruritus in pediatric patients suffering from persistent cholestasis

Methods: Twenty-three patients attending the Pediatric Hepatology Unit at Cairo University Children's Hospital, Egypt, were included in the present study. They were suffering from intractable pruritus secondary to persistent cholestasis from various etiologies. They were 14 males [60.87%] and 9 females [39.13%]. The mean duration of itch was 19 +/- 27.5 months. Rifampicin was started at a dose of 10 mg/kg/day in two divided doses. Liver function tests were followed up weekly to detect any deterioration that may be attributed to the drug

Results: Seventeen patients [74%] showed improvement of pruritus with rifampicin. Fourteen out of the seventeen [61%] improved at a dose of 10 mg/kg/day in 2 divided doses. The remaining 3 patients [13%] needed gradual dose increase by increments of 2 mg/kg/day every 2 weeks [maximum dose 20 mg/kg/day] until clinical improvement was observed. None of the patients showed any deterioration in liver functions, even though, a significant improvement in total serum bilirubin, ALT and AST was noticed following therapy

Conclusions: Rifampicin in a dose of 10-20 mg/kg/day is safe and effective in ameliorating uncontrollable pruritus in pediatric patients suffering from persistent cholestasis. No hepatoxicity was noted on close follow up in the studied children