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Background. Duodenal atresia or stenosis are different degrees of the same abnormality. They usually occur at the level of the ampulla of Vater and are thought to be an embryologic defect during the development of the foregut, leading to abnormal recanalization. Complete duodenal atresia is usually symptomatic in the early neonatal period, while partial obstruction (web, stenosis) may have a late presentation and a more challenging diagnosis such as in our case. Case Presentation. The patient, a 16-year-old girl, presented with abdominal pain, recurrent vomiting, and growth failure. An upper GI study with barium showed an image compatible with gastroptosis. Further diagnostic procedures confirmed a rare finding such as congenital duodenal stenosis. She underwent surgical intervention, and the recovery period was uneventful. Conclusion. Gastroptosis is not diagnostic for a particular disease. This rare radiological finding in children may obscure uncommon diagnosis, such as congenital duodenal stenosis, which can present a diagnostic challenge beyond early childhood. [ABSTRACT FROM AUTHOR]

Gaucher disease is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunctions in multiple organs. Bone involvement is one of the most prevalent aspects of Gaucher disease. Pain, disability, and reduced quality of life remain the most frequent characteristics of bone involvement in Gaucher patients. Patients and Method. In this study, we will take into consideration data from 24 patients diagnosed with type 1 Gaucher disease. We followed them closely for six years in progress. At baseline, all patients started therapy with taliglucerase alfa at a mean dosage of 45 UI/kg; later, during the study, two of them switched their cure toward velaglucerase alfa. Before baseline evaluations, 12 patients had been treated with imiglucerase at variable duration times. At baseline, we performed an X-ray of long bones and the spine, and each year, different standard assessments were performed, such as bone pain, MRI of the vertebral spine and pelvis, and DEXA for bone density. Four patients left the study for various reasons, two of them at baseline and two others during year 3 (FU3). Results. At baseline, we had 8 children and 16 adults. The average age was 28.7 ± 16.5 SD years. The most frequent skeletal manifestations in our patients were reduction of tibial femoral space (40%), osteonecrosis (36%), and body vertebral reduction (32%). At baseline, 15 patients presented with bone pain to different degrees. Over the years, bone pain in our patients had a gradual improvement. The most dramatic bone pain improvement was seen in a patient who presented bone crises. Another impressive finding was a significant BMD improvement during six years of treatment. Our study showed a significant improvement in BMD comparing FU5 and baseline values (p = 0.0007). Especially children demonstrated a significant improvement in BMD (p = 0.00061) compared to adults (p = 0.3673). Mean BMD change was more indicative in switched patients (p = 0.0142) compared to naïve patients (p = 0.147). Conclusions. Skeletal manifestations are very different in Gaucher type 1 patients. In our study, as a result of long-term evaluations, it was noticed that the most frequent skeletal manifestation was a reduction of tibiofemoral space. Bone pain has gradually improved in all patients. Also, BMD values have been enhanced over six years of treatment, especially in children. [ABSTRACT FROM AUTHOR]

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Abstract Background Treatment of Hepatitis C in children has a better outcome than in adults, and for this reason the treatment had different views. However, in pediatric age hepatitis C is seen to have an evolution towards chronicity. Today is a normal option to treat chronic hepatitis C as early as possible according to certain criteria. The aim of this study is to show the results of treatment with interferon and ribavirin and the follow-up of children diagnosed with chronic hepatitis C in our service. Patients and methods This is a prospective study which has included children 3 up to 15 years old (13 boys and 4 girls) diagnosed with chronic hepatitis C. All patients underwent a certain protocol, including liver biopsy prior to treatment. Treatment consisted in use for 48 weeks of INF α-2b, 3 MIU/m2 three times a week s/c and ribavirin 15 mg/kg orally divided bid. Two patients were treated with PEGINF α-2b with dose 1.5 mcg/kg once a week s/c and ribavirin 15 mg/kg. After the treatment all patients have stayed under our control for an average period of 24 weeks. Results At the end of the treatment we detected a patient with HCV-RNA positive. End Treatment Viral Response was 94%. Six months later we found three patients who showed relapse of disease. Sustained Viral Response was approximately 83% Conclusion The combination therapy of interferon with Ribavirin in treatment of children with chronic hepatitis C provides a higher SVR when treatment is initiated at the earliest stages of hepatic changes. Side effects of therapy are insignificant in comparison with results obtained

Introduction:Short stature is defined as a standing height more than 2 standard deviations (SDs) below the mean for age and sex. While there are many medical causes for being short and having poor growth, including growth hormone deficiency, hypothyroidism, Turner syndrome, inflammatory bowel disease, kidney problems, malnutrition, etc., most children who are short are normal. Objectives: The identification and analysis of causes and factors leading to short stature in Albanian children. Patients & methods: Subjects enrolled in our study were admission with "Short stature" or "Slow growth velocity" from January 2001 to January 2011 and met the criteria: length < -2 z-score and/or height velocity <-2 z-score for age and sex. They were evaluated by anthropometric measurements; biochemical panel; hormonal balance; radiological studies; and hormonal provocative tests. Statistical processing was done with Epi-Info CDC 2000 and SPSS accordingly. Results: The age of the 564 children was from 0.65-18.74 years (11.08 ± 3.28 years). M / F: 221/343 (39%/61%) respectively. The frequency of diagnoses resulted as follows: the "constitutional short stature" 211children (37.4%), "GH deficit" 155(27.5%), "genetic syndrome" 67(11.9%), "familiar short stature" 38(6.7%), "others pathology" 38(6.7%), "idiopathic short stature" 31(5.5%), "i-uterine short stature" 16(2.8%). Conclusions:The fact that 46% of the explored children resulted positive in terms of a pathology that had caused primary or secondary growth failure, makes it necessity careful monitoring of growth and reference of the children to a specialist as fast as possible. Evidently great age of exploration indicates a weak surveillance on growth monitoring in Albania. Recommendations: Assessment of the child's growth must be a routine procedure. The early identification of stature growth delay will significantly increase the early detection of any pathology. [ABSTRACT FROM AUTHOR]

Background: Arthrogryposis- renal tubular dysfunction - cholestasis (ARC) syndrome is a rare multisystem disorder originally described in 1973 and recently ascribed to mutation in VPS33 B whose product acts in intracellular trafficking. It exhibits wide clinical variability but the constipation isn't a characteristic clinical sign. Case: This girl presented after birth severe contractures of legs. She was admitted at 30 days of age with poor feeding, cholestatic jaundice with normal GGT and failure to thrive . Also we have noted a severe acidosis (pH=7.2) associated with aminoaciduria and glucosuria. At second month of age the girl presented a severe ichtyosis, recurrent fever and constipation. Apart from treatment the constipation has persisted. The baby died of sepsis at 12 weeks of age. Conclusion: ARC syndrome exhibits notable clinical variability. Constipation has not been reported previously on the contrary diarrhea is a frequent clinical sign. Knowledge of this rare condition can benefit the practitioner as well as the patient. [ABSTRACT FROM AUTHOR]

Aim: To estimate the burden of undiagnosed celiac disease (CD) in the Mediterranean area in terms of morbidity, mortality and health cost., Methods: For statistics regarding the population of each country in the Mediterranean area, we accessed authoritative international sources (World Bank, World Health Organization and United Nations). The prevalence of CD was obtained for most countries from published reports. An overall prevalence rate of 1% cases/total population was finally estimated to represent the frequency of the disease in the area, since none of the available confidence intervals of the reported rates significantly excluded this rate. The distribution of symptoms and complications was obtained from reliable reports in the same cohort. A standardized mortality rate of 1.8 was obtained from recent reports. Crude health cost was estimated for the years between symptoms and diagnosis for adults and children, and was standardized for purchasing power parity to account for the different economic profiles amongst Mediterranean countries., Results: In the next 10 years, the Mediterranean area will have about half a billion inhabitants, of which 120 million will be children. The projected number of CD diagnoses in 2020 is 5 million cases (1 million celiac children), with a relative increase of 11% compared to 2010. Based on the 2010 rate, there will be about 550,000 symptomatic adults and about 240,000 sick children: 85% of the symptomatic patients will suffer from gastrointestinal complaints, 40% are likely to have anemia, 30% will likely have osteopenia, 20% of children will have short stature, and 10% will have abnormal liver enzymes. The estimated standardized medical costs for symptomatic celiac patients during the delay between symptom onset and diagnosis (mean 6 years for adults, 2 years for children) will be about €4 billion (€387 million for children) over the next 10 years. A delay in diagnosis is expected to increase mortality: about 600,000 celiac patients will die in the next 10 years, with an excess of 44.4% vs age- and sex-matched controls., Conclusion: In the near future, the burden of CD will increase tremendously. Few Mediterranean countries are able to face this expanding epidemic alone.