Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta.

Background: Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase enzyme deficiency resulting in the cumulative deposition of glucocerebroside in macrophages, predominantly effecting bone marrow, liver and spleen. Gaucher disease type IIIC is a rare subtype that is characterized by cardiovascular involvement, eye-movement disorders, and late-onset neurological symptoms.

Case Presentation: We present a 14-year-old adolescent boy diagnosed with Gaucher disease type IIIC at age four with a homozygous D409H mutation who developed severe aortic valve stenosis, extensive aortic calcification and a porcelain aorta despite enzyme replacement treatment since the diagnosis.

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.

ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia.

Background: A clinical presentation similar to severe combined immunodeficiency (SCID) with defective T cell activation but normal lymphocyte development occurs due to certain molecule defects including ORAI1- and STIM1.

Case: A four-month-old girl sufferd from fever, restlessness, diarrhea, and poor weight gain following the neonatal period. There was consanguinity and a positive family history.

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.

Significance of intestinal alkaline phosphatase in predicting histological activity of pediatric inflammatory bowel disease.

Background: Intestinal alkaline phosphatase (iAP) is an intestinal brush border enzyme that is one of the factors involved in the pathogenesis of inflammatory bowel disease (IBD). The aim of the study was to investigate the relationship between iAP enzyme and histological inflammatory activity in patients with IBD.

Methods: A total of 44 children were enrolled in this study including IBD patients (n=24; 12 Crohn`s disease [CD] and 12 ulcerative colitis [UC]) and controls (n=20).

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.

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.

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.

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.

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.

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.

A very rare cause of protein losing enteropathy: Gaucher disease.

Background: Mesenteric lymphadenopathy is a rare manifestation of Gaucher disease (GD) in children and can be accompanied by protein losing enteropathy (PLE). PLE is a difficult-to-treat complication of GD. To date, only a few pediatric GD cases with PLE and massive mesenteric lymphadenopathies have been reported.

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.

Ascites: a loadstar for the diagnosis and management of an intracranial tumor.

Background: Ascites is defined as abnormal fluid retention in the peritoneal cavity and it can be encountered at any age including fetal life. Ascites mostly results from cirrhosis, chronic renal disease and heart failure in childhood. However, there are various reasons for cirrhotic and non-cirrhotic ascites in the pediatric age.

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.

[A Rare Complication of Acute Diarrhae Caused by Cryptosporidium: Possible Hepatobiliary System Involvement in a Child without Immunodeficiency].

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.

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.

Risk factors associated with clinically significant gastrointestinal bleeding in pediatric ED.

Introduction: Gastrointestinal bleeding is a common problem in pediatric emergency department (PED). Some of these patients can lose significant amount of blood which may lead to shock. The aim of this study is to determine the risk factors predicting clinically significant gastrointestinal (GIS) bleeding in patients presenting to PED.

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

Hızarcıoğlu-Gülşen H, Kılıç E, Dominguez-Garrido E, Aydemir Y, Utine GE, Saltık-Temizel İN. Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. Turk J Pediatr 2017; 59: 80-83.

Deoxyguanosine kinase deficiency: a report of four patients.

Background: Hepatic involvement is a common feature in childhood mitochondrial disorders. Deoxyguanosine kinase (DGUOK) deficiency is one of the mitochondrial DNA depletion syndromes associated with hepatocerebral syndrome. Hepatic disease and neurologic dysfunction occurs within weeks after birth.

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.