Liver magnetic resonance elastography and fat fraction in pediatric patients with cystic fibrosis versus healthy children.

BACKGROUND: Liver involvement is an important cause of morbidity and mortality in patients with cystic fibrosis (CF). While liver biopsy is the gold standard for demonstrating involvement, its invasiveness prompts a search for noninvasive alternatives. OBJECTIVE: To evaluate liver involvement in pediatric patients with CF (versus healthy controls) using magnetic resonance (MR) elastography/spectroscopy and to correlate the imaging findings with clinical/laboratory characteristics. MATERIALS AND METHODS: This was a single-center, prospective cross-sectional study conducted between April 2020 and March 2022 in patients with CF versus healthy controls. Patients with CF were divided into two subgroups: those with CF-related liver disease and those without. MR images were acquired on a 1.5-tesla machine. Kilopascal (kPa) values were derived from processing MR elastography images. MR spectroscopy was used to measure liver fat fraction, as an indication of hepatosteatosis. Groups were compared using either the Student's t test or the Mann‒Whitney U test. The chi-square test or Fisher's exact test were used to compare qualitative variables. RESULTS: Fifty-one patients with CF (12 ± 3.3 years, 32 boys) and 24 healthy volunteers (11.1 ± 2.4 years, 15 boys) were included in the study. Median liver stiffness (P=0.003) and fat fraction (P=0.03) were higher in the CF patients than in the controls. Median liver stiffness values were higher in CF patients with CF-related liver disease than in those without CF-related liver disease (P=0.002). Liver stiffness values of CF patients with high alanine aminotransferase (ALT), high gamma-glutamyl transferase, and thrombocytopenia were found to be higher than those without (P=0.004, P<0.001, P<0.001, respectively). Only the high ALT group showed a high fat fraction (P=0.002). CONCLUSIONS: Patients with CF had higher liver stiffness than the control group, and patients with CF-related liver disease had higher liver stiffness than both the CF patients without CF-related liver disease and the control group. Patients with CF had a higher fat fraction than the control group. Noninvasive assessment of liver involvement using MR elastography/spectroscopy can support the diagnosis of CF-related liver disease and the follow-up of patients with CF.

Neutrophil-to-Lymphocyte Ratio: An Easy Marker for the Diagnosis and Monitoring of Inflammatory Bowel Disease in Children.

BACKGROUND: The neutrophil-to-lymphocyte ratio (NLR) is a simple and inexpensive inflammation biomarker that reflects systemic inflammation based on complete blood count values. AIMS: In our study, we aimed to compare the NLR values in pediatric inflammatory bowel disease (IBD) and in healthy controls, and to define NLR levels in children with IBD during diagnosis, active disease, and remission. METHODS: NLR values of patients with IBD at diagnosis, remission, and active disease of the patients were recorded retrospectively. Age- and sex-matched healthy subjects enrolled as the control group. RESULTS: Sixty-three patients with IBD and 92 healthy subjects as the control group enrolled. The mean age of the patients with IBD was 9.31 ± 5.24 years, and 57.1% were males. The mean NLR values of the patients with IBD at diagnosis and remission were significantly higher than that of healthy controls (p < 0.001). The mean NLR values of the patients at diagnosis and active disease were significantly higher than that of during remission (p < 0.001). The best cutoff of NLR for prediction of diagnosis of IBD in children was 1.46 with a sensitivity of 86.2% and specificity of 93.5%. There was no significant difference regarding NLR between patients with IBD with and without associated diseases. At diagnosis the mean NLR level of patients with Crohn's disease was significantly higher than that of ulcerative colitis (p = 0.019). CONCLUSIONS: It was shown for the first time that NLR levels were significantly increased at diagnosis and active disease of childhood IBD, compared to the remission period. We believe that NLR can be a non-invasive inflammatory biomarker that should be used in the initial evaluation and follow-up of the disease activity in children.

The Impact of Vitamin D on Response to Anti-tumor Necrosis Factor-α Therapy in Children With Inflammatory Bowel Disease.

OBJECTIVES: Experimental studies have shown that vitamin D has an immunomodulatory effect on the innate and adaptive immune systems. Associations between vitamin D deficiency and development or progression of inflammatory bowel diseases (IBDs) are reported, but a cause-and-effect relationship between pretreatment 25 hydroxyvitamin D [25(OH)D] levels and response to anti-tumor necrosis factor-α (anti-TNF) therapy is not established. METHODS: This retrospective study evaluated pediatric IBD patients who had 25(OH)D levels drawn within 3 months of initiating infliximab and/or adalimumab treatment. Demographic features, Paris classification, baseline 25(OH)D levels, disease activity, and laboratory results before and after 3 months of anti-TNF therapy were collected. The interaction between vitamin D insufficiency at induction and lack of response to anti-TNF therapy at 3 months was determined. RESULTS: Of the 383 patients, 76 met inclusion criteria. Sixty-five patients (85.5%) had Crohn disease (CD) and 11 (14.5%) had ulcerative colitis. Seven patients had 25(OH)D levels obtained during both infliximab and adalimumab induction; hence 83 subjects were evaluated (infliximab: 70 patients, adalimumab: 13 patients). 25(OH)D <30 ng/mL was found in 55 of 83 (66.3%) subjects. There were no differences in gender, IBD type, disease activity scores between vitamin D-sufficient and vitamin D-insufficient groups. In CD, proximal gastrointestinal tract inflammation was associated with vitamin D insufficiency (P = 0.019), but other Paris classification parameters and laboratory results were similar in 2 groups. Early termination of anti-TNF therapy was significantly higher in patients who had vitamin D insufficiency (14.5% vs 0%, P = 0.034). CONCLUSIONS: Vitamin D insufficiency before anti-TNF treatment may result in poor response to induction therapy.

Does cystic fibrosis make susceptible to celiac disease?

Patients with cystic fibrosis (CF) have a higher incidence of celiac disease (CD) than the healthy population; however, the actual incidence of coexisting CF and CD is unclear. In this report, we aimed to evaluate the frequency of CD and CF coexistence and to assess the clinical findings of affected patients during follow-up. We conducted a retrospective review of patients with CF to reveal the frequency of CD and also investigated the clinical characteristics and clinical response to gluten-free diet in patients with CD. The incidence of CD in 515 patients with CF was 1.4%. The median age at the time of CF diagnosis was 2 months (1-6 months). CD was diagnosed in six patients with poor weight gain, fatty stools, and low z score for BMI and one patient with poor weight gain despite a high protein and calorie diet and pancreatic enzyme replacement. The median age of CD diagnosis was 8 years (2-12 years). Except for one patient who was recently diagnosed, the other six patients gained weight and their accompanying symptoms resolved after starting a gluten-free diet.Conclusion: CD should be investigated in patients with CF in the presence of inadequate weight and/or height gain or poor control of malabsorption symptoms despite appropriate and adequate nutritional and enzyme replacement treatment. What is Known: • CFTR dysfunction may be a risk factor for CD, due to increased intestinal permeability and intestinal inflammation, pancreatic exocrine insufficiency that results in higher antigen load and increased antibodies against to nutritional antigens such as anti-gliadin IgA antibodies. • Although coexistence of CF and CD are rare in the same patient; there is still no consensus on when children with CF should be screened for CD. What is New: • Physicians should consider the investigation of CD in patients with CF, in the presence of inadequate weight and/or height gain or poor control of malabsorption symptoms despite appropriate and adequate nutritional and enzyme replacement treatment. • CFTR dysfunction has been emphasized to develop susceptibility to CD, and patients with CF who have persistent gastrointestinal symptoms despite appropriate and adequate nutritional and enzyme replacement treatment should be screened for CD.

[A Rare Complication of Acute Diarrhae Caused by Cryptosporidium: Possible Hepatobiliary System Involvement in a Child without Immunodeficiency]. / Akut Cryptosporidium Ishalinin Nadir Bir Komplikasyonu: Immün Yetmezlik Bulunmayan Çocuk Olguda Olasi Hepatobiliyer Tutulum.

Cryptosporidium spp. is one of the leading causes of parasitic diarrhea. It is the most common parasite in humans all over the world with Giardia. Cryptosporidium is an important cause of chronic diarrhea in Human Immunodeficiency Virus (HIV)/Acquired Immunodeficiency Syndrome (AIDS) patients. Patients with normal immune system may have an asymptomatic course or clinical presentation such as acute watery diarrhea without blood and persistent diarrhea. The severity and duration of the disease may be a reflection of the immune deficiency. Children under two years of age and children with malnutrition may have a risk of prolonged Cryptosporidium spp. infection, even if immunodeficiency work-up is normal, as they may have defects in the natural immune system and lymphocyte functions. Cryptosporidium spp. oocysts contaminate water sources, swimming pools, vegetables and fruits because oocysts are partially resistant to chlorination. So it may be problem for public health. Pets, livestock and humans can be carriers of Cryptosporidium spp. Factors such as developmental level of the countries, immune system, nutritional status, living in crowded environments, contact with contaminated water, close contact with animals, working at a hospital and hot and humid climate affect the incidence of Cryptosporidiosis. Cryptosporidium spp. may cause asymptomatic infection, mild diarrheal disease or severe diarrhea with high volume, which may be accompanied by nausea, vomiting, abdominal pain and fever, following a 1-7 day incubation period. Diarrhea may be acute or chronic, transient, intermittent, or continuous; loss of fluid can be up to 25 L/day in severe diarrhea. Cryptosporidium spp. are mainly located in intestines, but non-intestinal (bile ducts, pancreas, stomach, respiratory system, kidney) involvement may occur in immunocompromised patients. Hepatobiliary system involvement occurs in 10-30% of patients with AIDS; stone-free cholecystitis can lead to sclerosing cholangitis and pancreatitis. Hepatobiliary involvement is not expected in patients without immunodeficiency. In this article, we present a case of Cryptosporodiosis with hepatobiliary system involvement who were admitted to the pediatric emergency clinic with the complaints of severe diarrhea and Cryptosporidium spp. oocysts were detected in parasitological examination of the stool specimen. Immunodeficiency was not considered with her resume and laboratuary examinations. We would like to emphasize that Cryptosporodium spp. may be the cause of severe acute diarrhea in non-immunocompromised patients and may also involve hepatobiliary system involvement.

Detection of parasites in children with chronic diarrhea.

The aim of this study was to investigate the frequency of intestinal parasites in patients with chronic diarrhea and clarify the importance of these parasitic pathogens in such cases. A total of 60 pediatric patients with chronic diarrhea between June 2012 and October 2014 were enrolled in the study. Out of 60 stool samples, five were positive for Giardia lamblia, two, Dientamoeba fragilis, and one, Blastocystis hominis. One stool sample was positive for Entamoeba hartmanni and B. hominis, another one was positive for G. lamblia and B. hominis, another, G. lamblia and E. hartmanni and one sample was positive for Enterobius vermicularis, D. fragilis and B. hominis together. Parasitic infection, which decreases quality of life and increases susceptibility to other infections, should not be neglected, particularly in patients with chronic diarrhea. Accurate diagnosis decreases morbidity and mortality in patients with parasite infection.

Intractable diarrhea of infancy: 10 years of experience.

OBJECTIVES: Intractable diarrhea of infancy (IDI), a group of prolonged diarrheal disorders, is difficult to diagnose and manage. We documented general features of patients and the causes of IDI. METHODS: The present retrospective study included 60 hospitalized patients with IDI ages 0 to 24 months during January 2000 to December 2010. Detailed history, laboratory and endoscopic findings, diagnoses, and clinical courses were reviewed. Descriptive analyses were used for statistical evaluation. RESULTS: The male/female ratio was 1.4. The median age at onset of diarrhea was 12 days. A total of 70% and 11% of patients were severely and moderately malnourished, respectively. Carbohydrate malabsorption (CM) and food allergies (n = 11, 18% for both) were the most frequent causes. A total of 16 of the patients (27%) did not have a specific diagnosis. The other diagnoses were infections (n = 5), immune-mediated disorders (IMD) (n = 6), congenital enterocyte defects (CED) (n = 3, 5%), short bowel syndrome (n = 2), cystic fibrosis (n = 2), intestinal pseudoobstruction (n = 1), congenital disorder of glycosylation (n = 1), abetalipoproteinemia (n = 1), and proprotein convertase (PC) 1 deficiency (n = 1). Stool calprotectin level was high in 10 of 19 patients with Crohn disease (n = 3, mean 1116 ± 851 mg/L), food allergy (n = 4, mean 516 ± 288 mg/L), and undefined etiology (n = 3, mean 616 ± 780 mg/L). The mean duration of hospitalization was 76 days. CONCLUSIONS: IDI is a heterogeneous group of diarrheal disorders. The most frequent causes were CM and food allergies in our study. Because high levels of calprotectin support inflammation, calprotectin levels may help to discriminate CED and inflammatory causes of IDI.

Is Prolonged Copper Restriction Needed in Pediatric Wilson's Disease?

BACKGROUND: Dietary copper restriction in Wilson's disease is recommended mostly for 1 year or until showing normal liver enzymes. Little is known about the effect of long-term copper restriction on copper and nutritional status in the body. The relationship between daily copper consumption and serum and urine copper parameters, liver enzymes, and dietary contents was investigated. METHODS: In this study, 32 pediatric Wilson's disease patients who had been on treatment at least for 12 months were included. Clinical features, liver enzymes, serum total copper concentrations, non-ceruloplasmin bound copper concentrations, adjusted copper concentrations, 24-hour urine copper excretions, and macro- and micronutrient consumptions were analyzed. RESULTS: In total, 27 patients reported following copper-restricted diets, while daily copper consumption was low only in 7 patients (21.9%). Total copper concentrations and non-ceruloplasmin-bound copper concentrations were low at 78.1% and 53.1%, respectively. All but one adjusted copper concentration were within normal limits. Total copper concentrations, adjusted copper concentration, and non-ceruloplasmin-bound copper concentrations correlated with each other but none correlated with urine copper excretions. Daily copper consumption was inversely correlated with total copper concentrations (P = .041, r = -0.363) but not correlated with non-cerulo plasmin-bound copper concentrations and adjusted copper concentrations. There was no relationship between liver enzymes and daily copper consumption and serum and urine copper parameters. High fat consumption with low fiber and vitamin B6 was more common in low daily copper consumption group (P = .033, P = .029, P = .007, respectively). CONCLUSIONS: Daily copper consumption may be the least effective or non-effective factor on liver enzymes in Wilson's disease. Prolonged copper restriction may result in unintentional dietary imbalance. Avoidance of undernutrition and high-fat meals, as well as enrichment of the meals with vitamin B6 and fiber, should be encouraged during copper-restricted diets.

Acute Pancreatitis and Acute Recurrent Pancreatitis in Children: Imaging Findings and Outcomes.

OBJECTIVE: The prevalence of acute pancreatitis and acute recurrent pancreatitis in children has increased over the years, and there are limited data about imaging findings. This study aimed to reveal the imaging findings of acute pancreatitis and acute recurrent pancreatitis in children at a tertiary care hospital. MATERIALS AND METHODS: The patients with acute pancreatitis and acute recurrent pancreatitis diagnosed between January 2007 and December 2018 were included. Demographic and clinical features, follow-up period, and interventions were noted. Imaging features were evaluated for pancreatic enlargement, peripancreatic fluid, and biliary ducts for initial examination and pancreas parenchymal necrosis, peripancreatic collection, walled-off necrosis, pseudocyst, parenchymal atrophy, and biliary ductal dilatation for follow-up. RESULTS: The study included 74 patients with a mean age of 9 ± 4.9 years. The most common causes of acute pancreatitis and acute recurrent pancreatitis were biliary tract anomalies (n = 21), biliary ductal stones (n = 9), and cystic fibrosis (n = 8). Findings consistent with acute pancreatitis were determined by ultrasound in 40.5% (n = 30/74), whereas by magnetic resonance imaging in 60% (n = 39/65). Forty-one percent of the patients (n = 16) with positive magnetic resonance imaging findings did not show any findings on ultrasound. Acute recurrent pancreatitis was seen in 32 patients (43.2%). Follow-up imaging was performed in 55 patients (74.3%) between 2 months and 11 years. At follow-up, 8 patients had peripancreatic collections (6 walled-off necrosis and 2 pseudocysts). CONCLUSION: Recognizing the imaging findings of acute pancreatitis and its complications is crucial. Magnetic resonance imaging should be preferred as a second option following ultrasound, with the advantages of biliary ductal system delineation and better characterization of complications.

Nutritional characteristics of patients with functional constipation aged 4 years and older.

BACKGROUND: Dietary modifications may have role in prevention and treatment of functional constipation. Macronutrient, extrafluid, and fiber intake have been evaluated and the results are conflicting. The aim of our study was to define the nutritional features associated with functional constipation aged 4 years and older. METHODS: This is a cross-sectional descriptive study. Forty-one patients with functional constipation and 55 age-gender matched controls between 4-18 years old were enrolled. Demographic data, duration of breast-feeding, defecation pattern in the first year of life, physical activity, socioeconomic parameters, and anthropometric measurements were noted. Mean daily macronutrient and micronutrient consumption from the 5-day dietary records were calculated by Nutrition Information System - BEBIS 7.2 version. RESULTS: There were no differences between two groups in energy, water, protein, and fiber consumption. However, in 4-7 years old constipated female and male group, the percentage of carbohydrate was higher (P=0.010, P=0.049, respectively) but fat was lower (P=0.011, P=0.032, respectively). All patients except 4-7 years old boys of both groups got less energy than the reference values. The mean daily protein intake was higher than required in the 4-7 years old constipated and control groups. There was no significant difference in fiber consumption between 2 groups. Breastfeeding >18 months was more common in controls (P=0.039). The constipated group used the squatting toilet more frequently (P=0.002). Lower family income (P<0.001) and parental education levels (P<0.001) were associated with FC. CONCLUSIONS: Dietary habits may be a risk factor for functional constipation, especially, in rapid growth period.

A Fatal Complication of Liver Transplant: Posttransplant Lymphoproliferative Disease.

Immunosuppressive therapy is a double-edged sword and causes a risk for some complications, such as opportunistic infections and posttransplant lymphoproliferative disease. The most likely risk factors for posttransplant lymphoproliferative disease are Epstein-Barr virus serology mismatch, prolonged and high viral load for Epstein-Barr virus, higher doses of immunosuppressive therapy, and cytomegalovirus infection. Transplant recipients who are seropositive for Epstein-Barr virus show a lower risk for posttransplant lymphoproliferative disease than seronegative recipients. Here, we present a 3.5-year-old boy who was seropositive for Epstein-Barr virus and developed posttransplant lymphoproliferative disease 18 months after liver transplant with a previous history of cytomegalovirus- related pneumatosis intestinalis.

Salvage Liver Transplant in the Treatment of a Child With Local Recurrence of Hepatoblastoma.

Hepatoblastoma is the most common primary liver cancer of childhood, accounting for two-thirds of primary malignant hepatic neoplasms. Radical surgical removal combined with efficient chemotherapy is essential for cure. Despite a complete tumor resection, hepatoblastoma may recur as isolated local disease. Intrahepatic recurrence of hepatoblastoma after liver resection is among the indications for liver transplant. Here, we present a patient who underwent salvage liver transplant for the treatment of local recurrence of hepatoblastoma. A 13-year-old boy who was diagnosed with hepatocellular carcinoma arising from the left liver lobe and who had been treated with surgical resection was admitted to our outpatient oncology clinic for further evaluation because alpha-fetoprotein levels had started to increase after surgery. Histopathological reexamination of hemihepatectomy material showed a histological aspect of an epithelial hepatoblastoma. Magnetic resonance imaging revealed multifocal lesions in the right liver lobe compatible with local recurrence. Despite a favorable initial response to chemotherapy, the tumor showed progression with increased alpha-fetoprotein levels. The patient was deemed a viable candidate for an urgent liver transplant and underwent right lobe living donor liver transplant. He had excellent graft function without any complications or signs of malignancy in the last follow-up visit at 7 months posttransplant. Salvage liver transplant is a lifesaving and sometimes the only treatment option for patients with local recurrence of hepatoblastoma. Although transplant in the salvage setting has been associated with worse outcomes than primary transplant, recent data have indicated more favorable and acceptable outcomes. Further studies are warranted to better understand the role of salvage liver transplant in the treatment of hepatoblastoma. Early consultation with the liver transplant team is critical in children who are most likely to need extreme resection or liver transplant.

Distinctive Features of Hepatic Steatosis in Children: Is It Primary or Secondary to Inborn Errors of Metabolism?

PURPOSE: The incidence of hepatic steatosis among children has been increasing; however, data distinguishing simple steatosis from a more complex disorder are lacking. METHODS: This study identified the etiologies resulting in hepatic steatosis through a retrospective review of pediatric liver biopsies performed in the last 10 years. A total of 158 patients with hepatic steatosis proven by histopathological evaluation were enrolled in the study, and baseline demographic features, anthropometric measurements, physical examination findings, laboratory data, ultrasonographic findings, and liver histopathologies were noted. RESULTS: The two most common diagnoses were inborn errors of metabolism (IEM) (52.5%) and nonalcoholic fatty liver disease/steatohepatitis (NAFLD/NASH) (29.7%). The three most common diseases in the IEM group were glycogen storage disorders, Wilson's disease, and mitochondrial disease. The rates of consanguineous marriage (75.6%; odds ratio [OR], 26.040) and positive family history (26.5%; OR, 8.115) were significantly higher (p=0.002, p<0.001, respectively) in the IEM group than those in the NAFLD/NASH group. Younger age (p=0.001), normal anthropometric measurements (p=0.03), increased aspartate aminotransferase levels (p<0.001), triglyceride levels (p=0.001), and cholestatic biochemical parameters with disrupted liver function tests, as well as severe liver destruction of hepatic architecture, cholestasis, fibrosis, and nodule formation, were also common in the IEM group. CONCLUSION: Parents with consanguinity and positive family history, together with clinical and biochemical findings, may provide a high index of suspicion for IEM to distinguish primary steatosis from the consequence of a more complex disorder.

Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience.

Data from 38 children were retrospectively analyzed to determine the patient characteristics of Turkish children with Gaucher disease (GD) and evaluate the impact of enzyme replacement therapy (ERT) in a pediatric cohort consisting of two different sub-types of the disease, Gaucher disease type 1 (GD1) and type 3 (GD3). Both types were represented equally (GD1/GD3 = 20/18). L444P (35.5%) was the most common mutant allele while L444P/L444P (34.2%) was the most common genotype overall. Compound heterozygosity of N370S and L444P homozygosity were the dominant genotypes in Turkish children with GD1 and GD3, respectively. None of the patients had moderate to severe thrombocytopenia at last follow-up while the percent of patients with anemia decreased from 60% to 5.7% (p < 0.001). Significant improvements in mean liver (from 2.2 to 1.6 MN, p < 0.001) and spleen (from 15.5 to 7.6 MN, p < 0.001) volumes were observed in the first year of ERT. Linear growth was ameliorated as shown by the decrease in the percent of patients having short stature from 34.3% to 13.3% (p < 0.01) at year 5. Erlenmeyer flask deformity, osteopenia and scoliosis were common skeletal findings. Although none of the patients had lung disease at diagnosis, 20% developed radiological findings suggestive of pulmonary involvement. This single center experience is the first comprehensive study from Turkey not only reporting clinical and genetic characteristics of GD patients but also providing information on the outcomes of ERT in two different sub-types of GD. Genotypic background of Turkish children with GD is similar to western populations. Although visceral and hematological therapeutic goals are reached as early as one year of ERT in both sub-types, achieving normal growth takes several more years than suggested in significant number of children with GD.

Phagophobia Successfully Treated With Low-Dose Aripiprazole in an Adolescent: A Case Report.

Phagophobia is a condition characterized by an avoidance of swallowing foods and an intense fear of choking while eating solid foods in the absence of physiological and anatomical abnormalities. Phagophobia is mentioned in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition and International Classification of Diseases, 11th Edition in the new diagnostic category of avoidant/restrictive food intake disorder. The literature concerning phagophobia is sparse, and there is no specific treatment modality for this life-threatening condition. We describe a case of phagophobia in a 15-year-old girl who was treated successfully with low-dose aripiprazole as an augmentation therapy after she witnessed her father choking while eating chicken. To our knowledge, this is the first report showing that phagophobia was successfully treated with aripiprazole.

Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome.

Hizarcioglu-Gülsen H, Kiliç E, Dominguez-Garrido E, Aydemir Y, Utine GE, Saltik-Temizel IN. Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. Turk J Pediatr 2017; 59: 80-83. Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant inherited polyposis syndrome characterized by macrocephaly, lipomatosis, hemangiomatosis, intestinal polyposis and pigmented macules on penis. The mutation of the PTEN gene that is responsible for controlling cellular proliferation, migration and apoptosis clarifies the reason of tissue overgrowth in BRRS. Gastrointestinal tract involvement is seen 35-45% of the patients. Histologic features of polyps in BRRS resemble juvenile polyps. In this report, we describe a boy presenting with hematochezia and aggressive polyposis and finally was diagnosed as BRRS due to extra intestinal findings.

A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV.

Human chitinolytic enzyme named "chitotriosidase" takes part in the defense mechanism against pathogens and the homeostasis of innate immunity. Chitotriosidase was firstly reported to be markedly high in plasma of patients with Gaucher disease. Abnormal lipid laden macrophages are thought to be responsible for stimulating the secretion of chitotriosidase in Gaucher disease. Subsequently, various disorders have also been found to be associated with elevated levels of chitotriosidase. Chronic liver diseases that are also related with macrophage activation may have elevated chitotriosidase activity. We report the second case of the literature with glycogen storage disease (GSD) type IV that presented with high chitotriosidase levels. GSD type IV should be taken into consideration in case of elevated chitotriosidase levels, stigmas of chronic liver disease, and inconsistency of lysosomal storage diseases.