Intestinal Mucormycosis in a Child With Maple Syrup Urine Disease After Orthotopic Liver Transplant.

Mucormycosis can result in serious morbidity and mortality, especially in transplant recipients. In this case report, we present a 3-year-old female patient with maple syrup urine disease who developed mucormycosis infection after deceased donor split liver transplant. Progressive segmental necrosis of the small intestines and new ischemic areas were observed after repeated abdominal surgeries. Microscopic examination of biopsy material revealed mucormycosis. Early recognition is crucial for treatment, and patients with clinical suspicion can be treated empirically with antifungal medicine. However, diagnostic tests with accurate and fast results are needed and more effective therapeutic methods should be developed for better outcomes.

Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With Inflammatory Bowel Disease: A Multicenter Study.

BACKGROUND: The aim of the study was to evaluate familial Mediterranean fever (FMF) mutation analysis in pediatric patients with inflammatory bowel disease (IBD). The relation between MEFV mutations and chronic inflammatory diseases has been reported previously. METHODS: Children with IBD (334 ulcerative colitis (UC), 224 Crohn's disease (CD), 39 indeterminate colitis (IC)) were tested for FMF mutations in this multicenter study. The distribution of mutations according to disease type, histopathological findings, and disease activity indexes was determined. RESULTS: A total of 597 children (mean age: 10.8 ± 4.6 years, M/F: 1.05) with IBD were included in the study. In this study, 41.9% of the patients had FMF mutations. E148Q was the most common mutation in UC and CD, and M694V in IC (30.5%, 34.5%, 47.1%, respectively). There was a significant difference in terms of endoscopic and histopathological findings according to mutation types (homozygous/ heterozygous) in patients with UC (P < .05). There was a statistically significant difference between colonoscopy findings in patients with or without mutations (P = .031, P = .045, respectively). The patients with UC who had mutations had lower Pediatric Ulcerative Colitis Activity Index (PUCAI) scores than the patients without mutations (P = .007). CONCLUSION: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease.

Gastritis Associated with Initially Pediatric Crohn's Disease and Ulcerative Colitis.

PURPOSE: The aim of this study is to determine the involvement of the upper gastrointestinal system (GIS) in patients diagnosed with Crohn's disease (CD), ulcerative colitis (UC), and non-inflammatory bowel disease (IBD) and to compare their differences. METHODS: This study included patients aged between 2 and 18 years who underwent colonoscopy and esophagogastroduodenoscopy (EGD) for the first time due to the prediagnosis of IBD. In EGD, samples were taken from duodenum, antrum, corpus, and esophagus; and gastritis, duodenitis, and esophagitis were identified through histopathologic examination. The data gathered the ends of the research were compared between IBD with non-IBD groups and between CD-UC with non-IBD groups, and the presence of significant differences between groups were determined. RESULTS: In our study, 16 patients were diagnosed with CD, 13 with UC, 3 with undeterminate colitis, and 13 with non-IBD. In the histopathological examination of the groups, GIS involvement was found in 94.1% of patients diagnosed with IBD and in 38.5% of non-IBD patients. Moreover, the difference was found to be statistically significant (p=0.032). No significant difference was found between the CD and UC groups. Gastritis was mostly observed in 93.8% of CD-diagnosed patients, 76.8% of UC-diagnosed patients, 81.2% of IBD-diagnosed patients, and 38.5% of non-IBD-diagnosed patients. On the other hand, significant differences were found between CD and non-IBD groups (p=0.03), UC and non-IBD groups (p=0.047), and IBD and non-IBD groups (p=0.03). CONCLUSION: The results of the study show that gastritis was highly observed in UC- and CD-diagnosed patients than in non-IBD-diagnosed patients.

Efficacy and safety of midazolam and ketamine in paediatric upper endoscopy.

BACKGROUND AND STUDY AIM: Upper endoscopy can be successfully carried out in children under deep sedation and anaesthesia. However, the best method of upper endoscopy for children who require gastrointestinal intervention has yet to be defined. The aim of this study is to investigate the efficacy and safety of the sedation induced by intravenous midazolam and ketamine during upper endoscopy in children. PATIENTS AND METHODS: This study included patients ages 3-18years who had undergone upper endoscopy. All subjects received IV midazolam and ketamine. During the intervention, hypoxia, tachycardia, bradycardia, hypertension, and hypotension were recorded. After the intervention, euphoria, dysphoria, vertigo, visual problems (such as diplopia and nystagmus), and emergencies (such as arrhythmia, convulsion, and hallucination), among other findings, were recorded. Older children who were capable of expressing themselves were questioned to help determine these conditions. RESULTS: The mean age of the study group was was 11.9±3.42years; 54% of the patients were females, and 46% were males. During the upper endoscopy, hypoxia occurred in 9% of patients, mild hypertension in 14%, hypotension in 5%, tachycardia in 23%, bradycardia in 8%, and flushing-urticaria in 2%. After the upper endoscopy, one of the most common complications was sore throat, which occurred in 24% of patients. Vomiting was observed in 14% of patients, dizziness in 24%, diplopia in 27%, euphoria in 3% (5 patients), dysphoria in 4%, and hallucination in 4%. Of the total patients, 4% required oxygen supply with a face mask. CONCLUSION: The results of our study showed that the use of IV midazolam and ketamine during upper endoscopy in children was safe and effective.

Celiac disease in patients with Williams-Beuren syndrome.

Celiac disease is an autoimmune, gastrointestinal disorder characterized by intolerance to the dietary grain protein gluten. An increased prevalence of celiac disease has been reported in Down syndrome and Turner syndrome, but there has been only few previous reports with respect to the association of celiac disease in Williams-Beuren syndrome. The aim of this study was to evaluate the frequency of celiac disease in our 24 Williams-Beuren syndrome patients. Gastrointestinal problems and celiac disease symptoms of patients were noted. All patients were analyzed by the titer of tissue transglutaminases IgA and IgG. HLA genotyping and intestinal biopsy was performed to the patients with positive serology. We also performed gluten free diet in the presence of compatible symptoms, serology, HLA genotyping and intestinal biopsy. In our study, two patients had positive tTG antibodies, but only one had positive biopsy finding for celiac disease. The frequency of celiac disease in patients with Williams-Beuren syndrome was estimated as 1/24 (4.1%). Though the number of participants in this study was limited, the results show that the frequency of celiac disease is higher in Williams-Beuren syndrome compared to the general population. We suggest that a high suspicion and testing for celiac disease should be recommended at certain intervals in all cases with Williams-Beuren syndrome to detect the cause of growth retardation and gastrointestinal problems.

A rare outcome of iron deficiency and pica: Rapunzel syndrome in a 5-year-old child iron deficiency and pica.

Bezoar is defined as the accumulation of organic or nonbiological substances inside the gastrointestinal system. Trichobezoars are the most frequently detected ones and are mostly present in patients with neuropsychiatric disorders. The continuance of the trichobezoar tail-shaped extension over the duodenum and jejunum is described in Rapunzel syndrome. Both conditions are rarely reported in children. The present case submitted here is related to a 5-year-old girl referred with an abdominal mass and anemia, diagnosed with Rapunzel syndrome and developing trichobezoar due to iron deficiency and pica.

The role of Bifidobacterium lactis B94 plus inulin in the treatment of acute infectious diarrhea in children.

BACKGROUND/AIMS: In contrast to many other studies of probiotic species, the number of publications evaluating Bifidobacterium lactis and its combinations with prebiotics as treatments for acute infectious diarrhea is limited. We investigated the synbiotic effects of B. lactis B94 plus inulin on acute infectious diarrhea. MATERIALS AND METHODS: The study was conducted on children with acute diarrhea between the ages of 2 and 60 months. The patients were administered 5×1010 colony-forming units (CFU) of B. lactis B94 plus 900 mg inulin or placebo, once a day for five days. Stools were examined for Rotavirus, Adenovirus, Entamoeba histolytica, Salmonella, Shigella, Campylobacter, Clostridium difficile, Cryptosporidium, and parasites. RESULTS: We examined 79 patients in the synbiotic group and 77 patients in the placebo group. The duration of diarrhea was significantly reduced in the synbiotic group in comparison with the placebo group (3.9±1.2 days vs. 5.2±1.3 days, respectively; p<0.001). Moreover, the number of diarrheal stools on the third day was significantly lower in the synbiotic group than in the placebo group (5.5±2.9 vs. 8.3±3.01, respectively; p<0.001). Diarrhea in the synbiotic-group patients with rotavirus infection was of a significantly shorter duration (3.2±1.3 days vs. 5.2±1.3 days, respectively; p=0.001). Duration of diarrhea in patients who started the synbiotic treatment within the first 24 h was shorter than that in the patients who started the treatment later (3.9±1.1 days vs. 4.8±1.8 days, respectively; p=0.002). CONCLUSION: Treatment with 5 × 1010 CFU of B. lactis B94 plus 900 mg inulin shortened the duration of acute watery diarrhea by an average of 31 h. This decrease was most pronounced in cases of Rotavirus diarrhea.

A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy.

Pancreatitis is among rare diseases in pediatrics clinics. It is usually presented with a sign of underlying systemic disease. Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare disease characterized by near absence of adipose tissue resulting in apparent muscle hypertrophy from birth or early infancy associated with severe insulin resistance. Common clinical features are hypertriglyceridemia, acanthosis nigricans, hepatomegaly with or without splenomegaly and high stature. Acromegaloid features, cardiomyopathy and mental retardation can also be present. We describe a 7-year-old Turkish boy with these clinical features of BSCL and presented with acute pancreatitis.

Extremely rare cause of congenital diarrhea: enteric anendocrinosis.

Congenital diarrheal disorders consist of a variety of chronic enteropathies. There are approximately 30 different diseases that can be classified into four groups according to the mechanisms involved in pathogenesis: (i) absorption and transport of nutrients and electrolytes; (ii) enterocyte differentiation and polarization; (iii) enteroendocrine cell differentiation; and (iv) modulation of the intestinal immune response. Affected patients often present with life-threatening diarrhea, in the first few weeks of life. A new disorder, enteric anendocrinosis, which is characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells has recently been described in six patients with recessively inherited mutations in the Neurogenin-3 gene. In this report we describe a seventh case with a review of the literature.

Percutaneous endoscopic gastrostomy in children: Is early feeding safe?

BACKGROUND: Percutaneous endoscopic gastrostomy (PEG) is the preferred method to provide nutritional support for patients with normal gastrointestinal function but cannot be fed orally for a variety of reasons. Owing to safety concerns, the first feeding after PEG tube placement is generally delayed. Early feeding may be an option; however, childhood studies regarding early feeding after the PEG procedure are highly insufficient. METHODS: A prospective randomized controlled study was conducted to compare early (4th hour) and late (12th hour) feeding after the PEG procedure. The PEG process was performed with the standard pull technique. Prophylactic antimicrobial drugs were not used. Complications such as gastric residue after feeding, vomiting, fever, systemic signs of infection, and duration of hospital stay were recorded. Tube feeding training was given to parents during their stay in the hospital in both groups. In the first and third days following PEG, the patients were visited by an experienced nurse in their homes and evaluated in terms of potential complications. RESULTS: The study was completed with a total of 69 patients: 35 in the early feeding group and 34 in the late feeding group. The demographic characteristics of the groups were similar. Vomiting was rare and detected as similar in both groups (early feeding group 8.5% [3/35], late feeding group 8.8% [3/34], P = 1.00). Rarely, minor gastric residue was observed in both groups (early feeding group 11.4%, late feeding group 8.8% [P = 1.00]). The amount of gastric residue in the early feeding group was a maximum of 13.2 mL, whereas the late feeding group had a maximum of 14.3 mL. The average duration of stay in the hospital for the early and late feeding groups was calculated as 6.7 ± 0.64 and 28.3 ± 3.74 hours, respectively (P < 0.001). Leakage from gastrostomy fistulas, peritonitis, and aspiration were not observed in any patients. CONCLUSIONS: The feeding at the fourth hour after PEG placement was safe and well tolerated by patients and shortened the duration of the hospital stay. The use of prophylactic antibiotics seems to be unnecessary before the procedure.

An unusual cause of ascites: hemophagocytic lymphohistiocytosis.

Hemophagocytic lymphohistiocytosis is character-ized by fever, hepatosplenomegaly, cytopenia, hyper-triglyceridemia, hypofibrinogenemia, and hemophago-cytosis. Ascites is not mentioned as a symptom of hemophagocytic syndrome. We report a one month-old girl suffering from familial erythrophagocytic lympho-histiocytosis, who presented with ascites.

Long-term aspects of nodular gastritis in children.

BACKGROUND: Close association of nodular gastritis and Helicobacter pylori infection has been initially proved by various studies. There have been some studies reporting microscopic and histologic recovery in a short time after eradication therapy. But there is not enough data about the long-term course of this condition. The aim of this study is to document current clinical conditions, presence of H. pylori and results of endoscopic and histologic examination, after a long-term period, in children with endoscopically diagnosed antral nodularity. METHODS: A total of 35 patients diagnosed as nodular antral gastritis by upper gastrointestinal endoscopy during a 2 year period, were invited for re-evaluation and re-endoscopy after 3 years. Histopathologically, H. pylori detected ones had been treated with standard triple eradication therapy. In total, 27 patients were accepted for enrollment in the study. Repeated endoscopy could be performed in all 27 patients. RESULTS: The persistence of antral nodularity was detected in 18 of 27 patients. Decrease in symptoms, absence of symptoms and presence of H. pylori infection were detected in 6, 8 and 16 (89%) of them, respectively. There was no statistical significance between the first and last endoscopic biopsies when activity, atrophy, intestinal metaplasia and presence of follicles were regarded. Malt lymphoma could not be detected in any of the patients. CONCLUSION: There is a strong association between nodular gastritis and H. pylori. Presence of antral nodularity in the long-term period may be related to H. pylori re-infection. New therapeutic approaches are required for treatment and management of the patients diagnosed as nodular gastritis and living in areas endemic for H. pylori infection.

Biochemical markers of bone metabolism in children with Helicobacter pylori infection.

We investigated the biochemical markers of bone metabolism in children with Helicobacter pylori infection. Biochemical markers of bone metabolism and serum levels of vitamin B12, ferritin and estradiol were measured in 41 H. pylori-positive (+) children (23 girls, 18 boys; aged 11.8+/-3 years). Serum levels of intact parathyroid hormone, ss-collagen I carboxy terminal telopeptide, total alkaline phosphatase (ALP), bone-specific ALP, N-terminal cross-links of human procollagen type I, N-mid-osteocalcin, calcium, phosphate, ferritin, and estradiol did not differ significantly between H. pylori(+) and H. pylori negative (-) children. Vitamin B12 levels were significantly decreased in H. pylori(+) compared to H. pylori(-) children. H. pylori infection was not accompanied by significant changes in markers of bone metabolism in children, although vitamin B12 levels were decreased. Further studies are required to clarify whether H. pylori infection causes time-dependent changes in bone turnover markers during the long course of this inflammatory disease.

Serum ferritin, vitamin B(12), folate, and zinc levels in children infected with Helicobacter pylori.

We sought to explore the relationship between Helicobacter pylori infection and serum ferritin, vitamin B(12), folate, and zinc status among children. Fifty patients aged 5-18 years who underwent upper gastrointestinal endoscopy because of dyspeptic symptoms, were studied, prospectively. Patients were grouped as H. pylori positive (group 1, n=32) or H. pylori negative (group 2, n=18) by histopathologic examination and rapid urease test. Fasting serum ferritin, vitamin B(12), folate, and zinc levels of patients were measured. Both groups were indifferent according to age, gender, height standard deviation score (H(SDS)), and weight standard deviation score (W(SDS)). Serum ferritin levels were 33+/-26 and 50+/-46 ng/mL (P=.098), vitamin B(12) levels were 303+/-135 and 393+/-166 pg/mL (P=.042), folate levels were 9.64+/-3.2 and 9.61+/-2.8 ng/mL (P=.979), and zinc levels were 95+/-48 and 87+/-31 mug/dL (P=.538), in groups 1 and 2, respectively. Ferritin levels of 14 (43.8%) patients in group 1 and 6 (33.3%) patients in group 2 were below the normal range (P=.470). Serum vitamin B(12) levels of 9 children (28%) in group 1 and 2 children (11%) in group 2 were below the normal range (P=.287). The findings of the present study suggest that H. pylori infection has a negative effect on serum ferritin and vitamin B(12) levels in children. This negative effect on vitamin B(12) levels is rather marked in contrast to that on ferritin levels. H. pylori infection has no significant effect on serum folate or zinc levels among children.

Burkitt's lymphoma following a pediatric liver transplantation: predictive negative value of serologic response to Epstein-Barr virus.

Post-transplant lymphoproliferative disorder (PTLD) represents a spectrum of Epstein-Barr virus (EBV)-related clinical diseases, from a benign mononucleosis-like illness to a fulminant non-Hodgkin's lymphoma. Because a large proportion of children are seronegative at the time of transplantation, recipients are at high risk of contracting primary EBV infection and subsequently developing PTLD. Surveillance techniques with antibody titers and/or polymerase chain reaction (PCR) may have a role in some high-risk settings. A 12-year-old boy whose serologic response to EBV was negative during follow-up after liver transplantation (LTx) developed Burkitt's lymphoma, a rare and the most severe variant of EBV-related PTLD, 32 months after LTx. He expired possibly due to side effects of treatment. We recommend that viral monitoring must be done using PCR during follow-up of pediatric LTx to prevent dramatic outcomes.

Liver biopsy in the diagnosis of visceral leishmaniasis.

AIM: To determine whether liver biopsy might be useful in the diagnosis of visceral leishmaniasis when bone marrow examination and serologic tests are inconclusive. METHODS: Over a 10-year period, liver biopsy was performed in five children with suspected visceral leishmaniasis when indirect hemagglutination tests and bone marrow aspirations were not diagnostic. RESULTS: Leishmania amastigotes were seen in Kupffer cells in all patients. The accompanying liver histopathological findings were ischemic necrosis in two children, macrovesicular steatosis in two children, portal inflammatory inflammation in two children, and piecemeal necrosis in one child. During the study period, 32 additional pediatric visceral leishmaniasis cases were diagnosed by bone marrow examination. CONCLUSION: Liver biopsy can be recommended for diagnosing suspected visceral leishmaniasis in children when serology and bone marrow aspiration are inconclusive.

Simultaneous bilateral microvascular tissue transfer for soft-tissue defects of the lower extremities in pyoderma gangrenosum.

Pyoderma gangrenosum is a necrotizing skin disease of unknown etiology. The lesions are painful and occur mostly on the lower extremities, either single or multiple, but can appear in any region of the body. The authors report a case of pyoderma gangrenosum involving bilateral skin lesions over the anterior surface of the legs in a 13-year-old male patient. The lesions presented with ulcerative colitis, which is one of the most commonly associated diseases of pyoderma gangrenosum. After examination, systemic immunosuppressive treatment was administered and the progression of the disease was controlled. The lesions were treated with the simultaneous application of two free anterolateral thigh fasciocutaneous flaps after radical debridement. The procedure was successfully performed and no recurrence was observed. Although microvascular free tissue transfer cannot be performed in a standard fashion in pyoderma gangrenosum cases because of the risk of pathergy response, it should be considered as a surgical option in selected cases, otherwise difficult to manage, with the simultaneous application of appropriate systemic medical treatment.

Abdominal tuberculosis in adolescents. Difficulties in diagnosis.

Since the nature of abdominal tuberculosis is mimicking a number of diseases, this may cause delayed diagnosis resulting in evident increased morbidity and mortality. Most of the time, serologic and bacteriologic tools are not enough. We report 3 adolescents with distinct presentations, one mimicking Crohn's disease, one with hepatitis, and the last one with ascites. Terminal ileitis and mesenteric lymphadenitis were found in laparotomy of the first case mimicking Crohn disease. Granulomatous hepatitis was found in the liver biopsy of the second patient, and peritonitis was found by laparoscopy of the third patient. Tuberculosis could be diagnosed merely by histopathologic investigation. All were treated successfully without complication.

Evaluation of a Western blot technique (Helicoblot 2.1) for the diagnosis of Helicobacter pylori infection in children.

AIM: We evaluated the performance of Helicoblot 2.1 which differentiates the reactivity to each of the various Helicobacter pylori antigens, and compared the results with those obtained by standard techniques (rapid urease test and histological examination of gastric biopsy) in symptomatic children of different ages living in Antalya, Turkey. METHODS: Eighty-eight children (mean age, 9.15 years) were divided into two groups. The first group included 66 children who were found to be infected with H. pylori. The second group included 22 children who were negative for H. pylori. Serum samples collected from all patients were tested for H. pylori IgG antibodies by immunoblot assay (Helicoblot 2.1). RESULTS: The sensitivity, specificity, positive and negative predictive values for detection of H. pylori infection were 80%, 100%, 100% and 85%, respectively. In children under 7 years of age, the sensitivity of the test was found to be lower than other age groups (P<0.05). No relationship was found between peptic ulcer and cagA antibody positivity (P>0.05). CONCLUSION: Helicoblot 2.1 is a useful non-invasive diagnostic tool for H. pylori infection in children over 6 years of age.