Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant.

Familial chylomicronemia is caused by deficiency of lipoprotein lipase or its co-activators. Here, we report an infant with apolipoprotein C-II (APOC2) deficiency, who developed acute pancreatitis 37 days after birth. He presented as abdominal sepsis with fever, irritability and abdominal distention. Amylase levels were low, but lipase levels and imaging findings were consistent with acute pancreatitis. He had severe hypertriglyceridemia (1091 mg/dl). Keeping him nil orally for two days resulted in rapid decrease in triglyceride levels and resolution of the clinical findings. APOC2 gene sequencing revealed a homozygous splice-site mutation (c.55+1G>C). To the best of our knowledge, this patient is not only the youngest reported patient with APOC2 deficiency, but also the youngest such patient who developed pancreatitis. Although he had a severe presentation, invasive methods to treat hypertriglyceridemia were not necessary. We emphasize that clinical findings and amylase levels are not reliable to diagnose pancreatitis in this age group.

Assessment of Corneal and Lens Density in Children With Celiac Disease.

PURPOSE: To assess the early changes of corneal and lens density in a pediatric population with celiac disease. METHODS: One hundred one patients were included in this observational and prospective study. Patients with celiac disease formed the celiac disease group. Healthy individuals with no medical history formed the control group. Corneal and lens density were assessed with Pentacam HR (Oculus Optikgeräte GmbH, Wetzlar, Germany). RESULTS: The mean lens and corneal density outcomes in all zones did not differ between groups (P > .05 for each). Maximum lens density outcome was significantly higher in the celiac disease group than in the control group (P = .028). The mean corneal density at the peripheral cornea was significantly higher in females than males in the celiac disease group (P < .05 for each). Compliance with a gluten-free diet, body mass index, and histological classification of celiac disease had no significant effect on lens and corneal density in patients with celiac disease (P > .05 for each). CONCLUSIONS: Celiac disease did not affect the mean lens and corneal density in this pediatric population, but higher maximum lens density in patients with celiac disease and higher peripheral corneal density in female patients with celiac disease may indicate early stages of ocular involvement of celiac disease. [J Pediatr Ophthalmol Strabismus. 2019;56(6):402-406.].

Recessive Mutations in KIF12 Cause High Gamma-Glutamyltransferase Cholestasis.

Undiagnosed liver disease remains an unmet medical need in pediatric hepatology, including children with high gamma-glutamyltransferase (GGT) cholestasis. Here, we report whole-exome sequencing of germline DNA from 2 unrelated children, both offspring of consanguineous union, with neonatal cholestasis and high GGT of unclear etiology. Both children had a rare homozygous damaging mutation (p.Arg219* and p.Val204Met) in kinesin family member 12 (KIF12). Furthermore, an older sibling of the child homozygous for p.Val204Met missense mutation, who was also found to have cholestasis, had the same homozygous mutation, thus identifying the cause of the underlying liver disease. Conclusion: Our findings implicate rare homozygous mutations in KIF12 in the pathogenesis of cholestatic liver disease with high GGT in 3 previously undiagnosed children.

An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.

Kasapkara ÇS, Yilmaz-Keskin E, Özbay-Hosnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. Turk J Pediatr 2019; 61: 282-285. Functional methionine synthase deficiency can be separated into two classes, cobalamin (Cbl) deficiency type E (CblE) and type G (CblG), which are the result of mutations that affect methionine synthase reductase or methionine synthase, respectively. Deficiency of methionine synthase activity may result in megaloblastic anemia without methylmalonic aciduria and neuromuscular abnormality of varying severity. Delayed milestones, ataxia, cerebral atrophy, muscular hypotonia, neonatal seizures, and blindness have been reported as the associated clinical findings. Early diagnosis and treatment are crucial for a more favorable diagnosis of the affected cases. Herein we report a three-month-old boy with CblG disease who presented with failure to thrive, chronic diarrhea, feeding intolerance, oral ulcers, microcephaly and hypotonia, and showed a dramatic response to treatment. In the first few months of life, megaloblastic anemia accompanied by apparent neurological involvement should direct physicians to order examinations like measurement of total homocysteine and methylmalonic acid levels to detect possible forms of inherited Cbl intracellular metabolism disorders.

Systemic Manifestation of Rotavirus Infection in Children: A Report of Three Cases.

INTRODUCTION: Rotavirus is a leading cause of acute gastroenteritis in children. Although the clinical complaints associated with rotavirus are generally gastrointestinal, including vomiting and diarrhea, data suggest that it can also cause symptoms that extend beyond the gastrointestinal tract. CASE PRESENTATIONS: We report three pediatric cases of rotavirus infection: one accompanied by encephalopathy and two with elevated hepatic transaminase activity. The patients were admitted to Dr. Sami Ulus maternity and children's health and diseases training and research hospital, Ankara, Turkey, from 2012 - 2014. The presented patients' aspartate aminotransferase (AST) (1765-2614 IU L-1) and alanine aminotransferase (ALT) (1448-3558 IU L-1) levels are, to date, the highest reported levels associated with rotavirus infections, and suggest that the rotavirus can cause severe hepatic transaminase elevation. CONCLUSIONS: This report aimed to increase awareness of the occurrence of extra-intestinal systemic manifestations of rotavirus infection. Although such cases may be rare, they still suggest that that rotavirus is a systemic viral infection.

The first childhood case with coexisting Hashimoto thyroiditis, vitiligo and autoimmune hepatitis.

Hashimoto thyroiditis (HT) is the most common pediatric autoimmune endocrine disorder. It results in autoimmune-mediated thyroid gland destruction and is an organ-specific, typical autoimmune disease. The presence of antithyroid antibodies and the typical pattern on ultrasonography indicate the diagnosis. It is also frequently seen together with other autoimmune disorders including type 1 insulin-dependent diabetes, celiac disease, alopecia and vitiligo. Autoimmune hepatitis (AIH) is a chronic type of liver injury with an immune etiology that can frequently cause end-stage liver disease if left untreated. Autoimmune hepatitis patients may present with hepatitis, and the laboratory tests in the absence of other etiology usually reveal a positive immune serology together with elevated immunoglobulins and abnormal liver histology. It is interesting that HT and AIH are rarely seen together although both have an autoimmune etiology. 14-year-old male who was being followed-up for vitiligo presented with symptoms of a swelling at the neck and fatigue. He was diagnosed with HT after the tests and the liver enzymes were found to be high. The patient was also diagnosed with AIH after tests revealed that the liver enzyme elevation had continued for longer than six months. The thyroid functions and liver enzymes returned to normal and the symptoms decreased after sodium L-thyroxine replacement together with steroid and azathioprine treatment. We present this case as we believe it is the first pediatric patient diagnosed with HT, AIH and vitiligo.

Helicobacter pylori infection and gastroduodenal lesions in children with chronic kidney disease stage V.

BACKGROUND: This study aimed to investigate the dyspeptic symptoms, endoscopic findings, and frequency of Helicobacter pylori (Hp) infection in children with chronic kidney disease (CKD) stage V, and to compare findings in peritoneal dialysis (PD) and hemodialysis (HD) patients. METHODS: Sixty-five patients on PD (n = 36) or HD (n = 29) were included. Age, gender, duration and type of dialysis, and dyspeptic complaints were recorded. All patients underwent endoscopy. Rapid urease tests were performed in all patients and antral biopsy examinations done in suitable patients to investigate presence of Hp infection. RESULTS: The mean age of patients (55 % male) was 13.9 ± 3.6 years. Frequency of dyspepsia was 43 % and was similar in HD and PD groups. The most frequent dyspeptic symptoms were early satiety (21.5 %) and bloating (17 %). Abnormal endoscopic findings were present in 81.5 % of patients (similar in both groups), and the most common lesion was gastritis (35.5 %). Hp positivity was determined in 37 % of the patients, which was similar in both groups. No significant relationship was found between dyspeptic symptoms and Hp infection. Hp infection was found to be significantly higher in 41.5 % of the patients with gastroduodenal lesions. Abnormal endoscopic findings were significantly higher in severely dyspeptic patients (88.9 %). CONCLUSIONS: We think performing an upper gastrointestinal tract examination and Hp screening may be helpful in renal transplant candidates with severe dyspeptic symptoms.

Value of the Likert dyspepsia scale in differentiation of functional and organic dyspepsia in children.

AIM: Dyspeptic symptoms may not allow clinicians to differentiate organic and functional gastrointestinal disorders. According to our dyspeptic patients' answers to dyspepsia questionnaire, we aimed to define the symptom scores directing organic dyspepsia (OD) before upper gastrointestinal endoscopy. PATIENTS AND METHODS: One hundred sixty-one patients (ages 10-17 years, mean 13.5 ± 2.3 years, male/female: 2/3) with chronic upper gastrointestinal system symptoms lasting for at least 3 months were enrolled. Patients with predominated reflux symptoms were excluded by 24-hour pH monitoring. Before upper gastrointestinal endoscopy, severity and incidence of 8 gastrointestinal symptoms (epigastric pain, upper abdominal discomfort, retrosternal pyrosis, bitter or sour taste in mouth, halitosis, belching, nausea, and early satiety) were measured by 5-point Likert scale. Total score indicated severity score multiplied by incidence score. Antral biopsy samples were obtained. OD is defined as peptic ulcer, erosive esophagitis, erosive or nodular gastritis, and erosive duodenitis in endoscopy and/or moderate to severe antral gastritis in histology. Functional dyspepsia (FD) is defined as normal findings/mucosal hyperemia in endoscopy and/or mild antral gastritis in antral histology. We evaluated the relation among severity and incidence scores of each dyspeptic symptom in patients with OD or FD. Age, sex, body mass index, drug history, nutritional habits, the quality of life related to dyspepsia were also investigated in patients with OD and FD. RESULTS: According to patients' histological and endoscopic findings, 100 (62%) patients were in the OD group and 61 (38%) patients were in the FD group. Of the dyspeptic complaints, the severity, incidence, and total scores of epigastric pain were significantly correlated with dyspepsia type (respectively, P = 0.042, P = 0.028, and P = 0.005). Of 93 patients who had an epigastric pain severity of 4 and 5 (namely, moderate to severe pain), 65 (70%) patients were in the OD group and 28 (30%) patients were in the FD group. Of 68 patients who had an epigastric pain severity of 0 to 3 (no epigastric pain or mild pain), 33 (48.5%) were in the OD group and 35 (51.5%) were in the FD group, and the difference was statistically significant (P = 0.042). After analyzing the total scores of 8 dyspeptic symptoms, one by one or in different combinations, we could not find a threshold (cutoff) score value that was able to indicate OD definitely. Age, sex, body mass index, and nutritional habits were not significantly different between patients with OD or FD. Nocturnal abdominal pain, pain before meals, and resolution of symptoms after meals or ingestion of antacid drugs were not significantly related to OD. Nocturnal abdominal pain was observed to be higher in the group with moderate to severe gastric inflammation. CONCLUSIONS: In the present study, the severity, incidence, and total scores of epigastric pain were significantly related to OD; however, a cutoff value of dyspepsia symptom score for differentiation of OD and FD could not determined. In our study, Likert dyspepsia scale was not beneficial in differentiation of the OD/FD groups. We suggest that the Likert dyspepsia scale should be redesigned for children or the same scale should be applied in a larger cohort of dyspeptic children.

A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls.

Congenital chloride diarrhea is a rare autosomal recessively inherited disorder characterized by impairment of Cl-/HCO3- exchange in an otherwise normal distal ileum and colon. Infrequency of congenital chloride diarrhea makes diagnostics difficult. The typical presentation is watery Cl- rich diarrhea, hypochloremia, hypokalemia, metabolic alkalosis and failure to thrive. This is a report of a Turkish female infant who was falsely diagnosed with Bartter syndrome when she was two months old. Ibuprofen was commenced at that time. However, severe watery diarrhea, dehydration, failure to thrive, abdominal distention, and electrolyte abnormalities persisted. She was diagnosed with congenital chloride diarrhea based on high fecal Cl- level and SLC26A3 gene c.2025_2026insATC mutation at the age of eight months. Oral NaCl and KCl supplementation was started. Our patient is now 26 months old. Her growth and development are normal. Early diagnosis and treatment are essential for normal growth and development and prevention of other severe complications of congenital chloride diarrhea.

Etiology of hemolysis in two patients with hepatitis A infection: glucose-6-phosphate dehydrogenase deficiency or autoimmune hemolytic anemia.

We report two children with hemolytic anemia during the course of hepatitis A infection. On admission, the patients had high blood urea nitrogen, creatinine, and uric acid levels, as well as anemia, leucocytosis, and direct and indirect hyperbilirubinemia. Both patients had a glucose-6-phosphate dehydrogenase deficiency (G6PD) and autoimmune antibodies. They were given vitamin K on admission. Inadvertent administration of vitamin K could have been related to an acute reduction in hemoglobin concentration. To prevent renal damage, plasmapheresis with fresh frozen plasma was done to clear bilirubin and plasma hemoglobin. The hyperbilirubinemia responded to plasmapheresis. However, acute tubular necrosis complicated the clinical course in one patient, and several sessions of hemodialysis were required. In conclusion, intravascular hemolysis should be considered in patients with hepatitis A infection, marked hyperbilirubinemia, and anemia. Although hepatitis A vaccination is not yet recommended for routine administration, high-risk patients, including those with a G6PD deficiency, should be vaccinated against hepatitis A.

Adenovirus infection as possible cause of acute liver failure in a healthy child: a case report.

Adenoviruses are common viral pathogens in childhood; however, they can cause serious disease in an immunocompromised host. Fulminant hepatitis is a rare complication of adenoviral infection. We report herein a case of fatal fulminant hepatitis possibly caused by adenovirus infection. Although rare, adenovirus infection should be considered in the differential diagnosis of acute liver failure in immunocompetent children.