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.

Correlation of clinical, endoscopic, and histological findings with virulence factors in children with Helicobacter pylori gastritis.

BACKGROUND AND GOALS: As there are limited data regarding the correlation between virulence factors and clinical, endoscopic, and histological findings in children with Helicobacter pylori gastritis, we aimed to evaluate that probable relationship in pediatric cases. STUDY: One hundred and fifty-nine children with chronic abdominal pain or dyspepsia were included in this study. Upper gastrointestinal endoscopy was performed and multiple biopsy samples were taken from the esophagus, the antrum, and the duodenum. PCR was used for the determination of virulence factors. RESULTS: According to PCR analysis, 98 (61.6%) children were positive for H. pylori. Using histopathological examination and culture, H. pylori was detected in 65 (40.9%) and 51 (32.1%) children, respectively. Peptic ulcer prevalence and histopathological features were not different among cagA, cagE, or iceA1 positive and negative groups (P>0.05). Peptic ulcer prevalence and histopathological findings were more common in iceA2-positive patients (P<0.05). Antral nodularity was more common in cagA-positive patients (P<0.05). Endoscopic and histological features were not different among patients with or without m1 or m2 strains (P>0.05). S1b positivity was associated with a higher esophagitis rate (P<0.05). CONCLUSION: Among virulence factors, iceA2 was associated with peptic ulcer and milder histopathological findings, and vacAs1 was associated with milder histopathological findings.

Craniofacial features of children with celiac disease.

BACKGROUND AND GOALS: Growth retardation is one of the most important signs of childhood celiac disease (CD); however, it is not very well known whether craniofacial growth is also affected. We aimed to carry out a detailed craniofacial morphological study to derive a conclusion on the craniofacial features of children with CD. PARTICIPANTS AND METHODS: Eighty-four 2-16-year-old children with biopsy-proven CD and 84 age-matched and sex-matched healthy children were included. Of these, 37 children (44.0%) had been newly diagnosed and 47 (56.0%) were on a gluten-free diet. Anteroposterior and lateral photographs were evaluated using the Scion Image software program for the measurements of the distances between reference points on the face. RESULTS: Except for nasofrontal angle (nfa), nasolabial angle (nla), pronasale height (prnh), nasal dorsum height (ndh), and nasal radix height (nrh), all measurements were significantly greater in patients compared with controls. In celiac children, all facial proportions except forehead/face height (t-gl/t-gn) and nose length/face height (n-ns/t-gn) were significantly different from those of controls. Except for nla, prnh, ndh, nrh, t-gl/t-gn, face height to total face height ratio (sn-gn/t-gn), n-sn/t-gn, ear length to face height ratio (s-sba/t-gn), and face width to face height ratio (z-z/t-gn), all measurements were statistically different in those on a gluten-free diet and newly diagnosed children. CONCLUSION: Most of the facial measurements and proportions of celiac children were different from those of controls. Our data confirm those of a previous study reporting that the forehead proportion is not altered in childhood CD. Pathophysiological mechanisms underlying these alterations are not clear but disruptions of growth during certain critical periods may be responsible.

Diffuse cystic bronchiectasis associated with left microtia and external auditory canal atresia: a very rare coincidence.

OBJECTIVE: To present a case in which diffuse cystic bronchiectasis was associated with left microtia/external auditory canal atresia. CLINICAL PRESENTATION: A 10-year-old girl suffering from cough, fever, dyspnea and sputum for 6 months was transferred to our clinic due to the diagnosis of bronchopneumonia. She had recurrent episodes of bronchopneumonia. On examination, left microtia and left external auditory canal atresia were detected. Thorax CT revealed diffuse cystic bronchiectasis on the left lung. Radiological examination showed atresia of the left external auditory canal. We could not find any etiopathological reason causing bronchiectasis. INTERVENTION: The patient underwent left pneumonectomy and postoperative histopathology was reported as bronchiectasis. CONCLUSION: This report shows a unique case in which an association of diffuse cystic bronchiectasis and left microtia/external auditory canal atresia was observed. Hence in newborns with microtia and/or external auditory canal atresia, the probability of development of bronchiectasis should be borne in mind and such patients should be followed up more carefully regarding this rare association.

Non-febrile seizure associated with pericallosal lipoma.

Intracranial lipoma is a very rare condition, with an incidence of less than 0.1% of all intracranial tumors. They are mostly localized in the pericallosal region. Pericallosal lipoma is an extremely rare tumor of the central nervous system and rarely gives any symptoms. A 6-year-old girl with an unexplained headache was admitted to the Pediatric Outpatient Clinic with complaints of non-febrile seizure. Her seizure was a complex-partial type. Biochemical tests for seizure etiology did not reveal any specific cause. Electroencephalography (EEG) revealed typical epileptic activity. Magnetic resonance imaging (MRI) gave images of a mass approximately 1 cm in diameter in the vicinity of corpus callosum splenium. Her seizures were kept under control with carbamazepine (400 mg/day) and indicators of neuromotor development were found to be normal throughout 24-month period of follow up. Even though it is a rare condition, pericallosal lipoma should also be taken into account in the differential diagnosis of non-febrile seizures in children.

Case of large placental chorioangioma associated with diffuse neonatal hemangiomatosis.

Chorioangioma is the most frequent nontrophoblastic tumor of the placenta with a incidence ranging from 0.01 to 1.3%. Vascular anomalies of the placenta coincidental with infantile hemangioendothelioma (IH) of the liver are rarely described. Here we report a case of a large chorioangioma of the placenta associated with cutaneous hemangiomatosis and IH of the liver. The relationship between hemangiomas and placental chorioangioma is discussed.

Pityriasis rosea-like eruption due to pneumococcal vaccine in a child with nephrotic syndrome.

A pityriasis rosea-like eruption can occur as a consequence of treatments with gold compounds and captopril. It has rarely been reported to have an association with vaccinations such as smallpox, BCG, hepatitis B, and diphtheria toxoid. It has not previously been documented to develop after pneumococcal vaccination. We report a case of pityriasis rosea-like eruption that developed following pneumococcal vaccination in a child with nephrotic syndrome.

A large cerebral hydatid cyst associated with liver cyst.

Hydatid disease in childhood is a serious health problem in Turkey and other places where the parasite is endemic. An 8-year-old girl from a rural area was admitted with headache, recurrent abdominal pain, abdominal distension and hypo-aesthesia and paresis of the right arm. Computerised tomography (CT) scans demonstrated a large intracranial hydatid cyst. A hydatid cyst was detected in the liver also. Her mother had been treated previously for disseminated hydatid disease. The cerebral cyst was removed but only subtotal excision of the hepatic cyst was possible. She was treated with albendazole, has fully recovered and, after 12 months of follow-up, there is no sign of recurrence.