Sinan Sari

Iron overload disorders are hereditary hemochromatosis and secondary etiologies other than hereditary hemochromatosis. We describe 2 boys presenting with iron overload. Juvenile hemochromatosis and nonalcoholic steatohepatitis (NASH) related iron overload are the genetic and secondary causes, respectively. Both patients benefited from phlebotomy even if they had different etiologies. In childhood, the diagnosis of iron overload syndromes is crucial because they do not confront us with obvious symptoms and findings. Early initiation of a phlebotomy program can prevent mortality. NASH might lead to iron overload and iron overload might aggravate the clinical course of NASH.

Recently, sirolimus was demonstrated to be effective in treating vascular lesions and lessening the frequency of bleeding and secondary iron deficiency anemia. We present a child with blue rubber bleb nevus syndrome who had prolonged history of iron deficiency anemia secondary to unrecognized gastrointestinal bleeding. Treatment with propranolol, omeprazole and iron had failed. After 2.5 months of sirolimus therapy (trough levels 1 to 5 ng/mL), his hemoglobin concentration improved into the normal range and remained stable. Vascular malformations on both the patient's tongue and in the fundus of his stomach shrank within 5 months of the initiation of sirolimus. In gastrointestinal involvement of blue rubber bleb nevus syndrome sirolimus was found to be effective even in the tongue's vascular lesions.

Objectives: The response to hepatitis A vaccine has not been studied in children with celiac disease (CD). The aim of the present study was to evaluate the immunogenicity of an inactivated hepatitis A virus (HAV) vaccine and the effect of the human leukocyte antigen (HLA) type on immunogenicity in children with CD. Patients and Methods: Thirty-three patients with CD and 62 healthy controls were enrolled in the study. Inactivated HAV vaccine (Havrix; GlaxoSmithKline Biologicals, Rixensart, Belgium) containing 720 enzyme-linked immunosorbent assay units of alum-adsorbed hepatitis A antigen was administered intramuscularly in a 2-dose schedule at 0 and 6 months. Seroconversion rates and antibody titers of HAV were measured at 1 and 7 months. Results: At 1 month, seroconversion rates were 78.8% and 77.4% and geometric mean titers were 50.7 and 49.9 mIU/mL in the CD and control groups, respectively (P > 0.05). At 7 months, seroconversion rates were 97% and 98.4% and geometric mean titers were 138.5 and 133 mIU/mL in the CD and control groups, respectively (P > 0.05). The most frequent HLA types were HLA-DQ2, -DR3, and -DR7 alleles in patients with CD and HLA-DQ3, -DQ6, -DR11, and -DR14 in the controls. There was no association between HLA alleles and antibody titers of hepatitis A vaccine. Conclusion: Children with CD have a good immune response to hepatitis A vaccine, similar to healthy controls.

Hepatopulmonary syndrome (HPS) is defined as an arterial oxygenation defect induced by intrapulmonary vascular dilatation (IPVD) associated with hepatic disease. The prevalence and clinical characteristics of HPS in portal hypertensive children is not well characterized. The aim of this study was to investigate the prevalence and clinical characteristics of HPS in 40 portal hypertensive children. We studied 40 children (11 girls and 29 boys; mean age, 111 months ± 52 months; range, 24–216 months) with portal hypertension (24 cirrhotic, 16 non-cirrhotic) for the presence of HPS using blood gas analysis, contrast-enhanced echocardiography (CEE), and Tc99m-macroaggregated albumin scintigraphy. Clinical and laboratory characteristics of patients were recorded. HPS was considered to be present in a patient with hypoxemia and/or an elevated alveolar–arterial oxygen gradient (PAaO₂) ≥15 mmHg) and positive CEE and/or scintigraphy. Elevated PAaO₂ was detected in 7 of 24 patients with cirrhosis. Four of them also had IPVD with CEE. An intrapulmonary shunt in Tc99m-MAA with CEE was shown in one patient. A diagnosis of HPS was made in 16.7% of the patients with cirrhosis. Cirrhotic patients without IPVD had significantly better hepatic function and lower pediatric end-stage liver disease scores. Although, 2 of the 16 patients with non-cirrhotic portal hypertension had elevated PAaO_2, none of them showed IPVD. One normoxemic patient in the non-cirrhotic portal hypertension group showed IPVD with CEE. None of the non-cirrhotic patients fulfilled the diagnostic criteria of HPS. Hepatopulmonary syndrome particularly occurs in cirrhotic portal hypertensive patients with severe hepatic dysfunction.

Papillon–Lefevre syndrome (PLS) is an autosomal recessive disease that is characterized by symmetric palmoplantar keratodermatitis and severe periodontal destruction. Mutations in the cathepsin C gene (CTSC) have recently been detected in PLS. Immune dysregulation, due to a mutation in CTSC, increases the risk of pyogenic infections in PLS patients. A child with PLS is presented here with liver abscesses and peritonitis caused by Rhizopus oryzae. His liver abscess and peritonitis were cured with amphotericin B without surgical care. This is the first case in the literature liver abscess due to Rhizopus oryzae in a child with PLS.

Papillon–Lefevre Syndrome (PLS) is a very rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe early onset periodontitis, affecting the primary and permanent dentition. The syndrome was first described by Papillon and Lefevre in 1924. Genetic, immunologic, and microbiologic factors are suggested as responsible for the initiation and progression of the disease. A point mutation of cathepsin C gene has recently been detected in PLS. A multidisciplinary approach is important for management .The prognosis has improved with the early recognition of the syndrome, effective professional supervision, and home care.

Objective: Octreotide has been suggested as a medical treatment option in refractory cases of primary intestinal lymphangiectasia (IL). There are few data about the long‐term effect and safety of octreotide for IL in the literature. In the present article we analyzed pediatric cases of primary IL with long‐term octreotide treatment and discussed its safety profile.Methods: Between 1999 and 2008, 13 children were diagnosed in our clinic as having IL. Six patients with primary IL were followed up, receiving octreotide therapy. The clinical data of the patients and duration of therapy, dose, and side effects of octreotide were evaluated.Results: Octreotide, 15 to 20 μg per body weight 2 times daily subcutaneously, was given to all of the patients. Duration of the octreotide treatment changed between 3 and 37 months. Stool frequency decreased in all of the patients after starting octreotide treatment. Serum albumin could be maintained at normal levels in 3 patients. The requirement of albumin infusions decreased in all of the patients. Acute pancreatitis was observed as a side effect of octreotide in 1 patient.Conclusions: Octreotide may help to maintain serum albumin levels, improve clinical findings, and decrease the requirement of albumin infusions in refractory cases of primary IL.