Turkish Journal of Pediatrics最新文献

Background: Actinomycosis (ACM) is a rare infectious granulomatous disease caused by Actinomyces, a Grampositive, filamentous, saprophytic bacteria. There are several types of pediatric ACM, such as orocervicofacial (55%) and other less common forms: abdominopelvic and thoracic. We report a case of a 16-year-old who presented with abdominal ACM in the setting of acute appendicitis. After the case report, we provide a short literature review of pediatric appendicular ACM cases published.

Case: A 16-year-old boy presented with nausea, vomiting, pain in the upper part of the abdomen and fever (37.5°C) lasting for 24 hours. On physical examination, the patient`s epigastrium and lower right abdominal quadrant were tender. White cell count and C-reactive protein (CRP) were elevated at 16,300/μL and 48.6mg/L respectively. Ultrasonography (US) showed appendicolith and edema of the appendiceal wall, focally with stratification as well as periappendiceal inflammation. The patient underwent a classic appendectomy, and the postoperative course was without complications. Histopathological analysis showed diffuse transmural neutrophilic infiltration of the appendix, focally with areas of necrosis and abscesses. There were numerous brightly eosinophilic colonies made of filamentous bacteria, located predominantly in submucosa. Special stains Grocott-Gomori`s Methenamine Silver and Gram were positive and a diagnosis of ACM was made.

Conclusions: Although appendicitis is very common in the general population, appendicitis associated with ACM is very rare, accounting for 0.02% - 0.06%, especially in the pediatric population. Diagnosis can be very challenging because they usually present with non-specific symptoms, and can form masses that mimic malignancies. Although rare, clinicians and pathologists should be aware of this entity. Satisfactory results and complete cure are achieved with adequate antibiotic therapy and surgery. In most cases, if there are no associated diseases, early and accurate diagnosis ensure an excellent prognosis.

Background: Pneumatosis cystoides intestinalis (PI) is a rare but important condition in which widespread air sacs are found in the submucosa, and subserosa of the bowel wall. Although it has several etiologies, children receiving chemotherapy are at risk for PI. Preferred imaging tools for the diagnosis are abdominal direct radiography and computed tomography. In patients with PI, rupture of intramural air sacs is the source of benign pneumoperitoneum, causing free air without true intestinal perforation. Intestinal perforation or obstruction are indications for surgical intervention.

Case: Here, we present a 4-year-old patient diagnosed with acute myeloblastic leukemia (AML), who underwent allogeneic hematopoietic stem cell transplantation (HSCT) from a matched sibling donor (MSD) and developed PI after HSCT. The patient was consulted to the pediatric surgery department, and her oral feeding was stopped. Broad spectrum antibiotics (teicoplanin, metronidazol and vancomycin) were initiated. Her fever increased during the 24-hour monitoring, there was no stool passage, CRP ( > 25 mg/dL, normal value < 1 mg/dL) and abdominal distension increased and there was prolonged neutropenia and radiologic investigations could not rule out intestinal perforation, so the patient underwent exploratory laparotomy. No intestinal perforation was found. There was no sign in the intestinal wall and numerous gas-filled cysts of various sizes.

Conclusions: PI is an uncommon complication, and direct radiography/computed tomography scans are very helpful in making the diagnosis in suspicious cases. PI, should be kept in mind, especially in transplanted or relapsed leukemia patients receiving intensive chemotherapy.

Background: Duodenal duplication cysts (DDC) are rare congenital anomalies of the gastrointestinal tract and periampullary localization with anatomical variants including biliary and pancreatic duct anomalies remains a surgical challenge. Endoscopic treatment of the periampullary DDC (PDDC) communicating with the pancreaticobiliary duct in an 18-month-old girl is presented to discuss the endoscopic treatment options in children.

Case: An 18-month-old girl with a normal prenatal ultrasound (US) was asymptomatic until complaining of abdominal pain and vomiting at 10-months of age. Abdominal US revealed a 1.8 × 2 cm cystic mass adjacent to the second part of the duodenum. The amylase and lipase levels were slightly increased while she was symptomatic. Magnetic resonance cholangiopancreaticography (MRCP) showed a thick cyst wall measuring 1.5 × 2 cm at the second part of the duodenum, consistent with DDC that was suspected to be communicating with the common bile duct. Upper gastrointestinal endoscopy confirmed a bulging cyst in the duodenum lumen. The puncture and injection of the cyst with contrast material confirmed the communication of the duplication cyst with the common bile duct. The unroofing of the cyst was performed with endoscopic cautery. The biopsy obtained from the cystic mucosa revealed normal intestinal histology. Oral feeding was initiated six hours after the endoscopy. The patient has been followed for the last 8 months uneventfully.

Conclusions: Endoscopic treatment of PDDC with various anatomical variants can be considered an alternative to surgical excision in children.

Background: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a peripheral nervous system disease associated with polyautoimmunity.

Case: We report a previously healthy 13-year old boy who was referred to our outpatient clinic with gait disturbance and distal lower limb weakness that had been increasing for six months. The patient had decreased deep tendon reflexes in the upper extremities and absence in the lower extremities, reduced muscle strength in the distal and proximal lower extremities, muscle atrophy, drop foot, and normal pinprick sensations. The patient was diagnosed with CIDP as a result of clinical findings and electrophysiological studies. Autoimmune diseases and infectious agents were investigated in terms of triggering CIDP. Although there was no clinical sign other than polyneuropathy, he was also diagnosed with Sjögren`s syndrome due to positive antinuclear antibodies and antibodies against Ro52, and with autoimmune sialadenitis. After six months of monthly intravenous immunoglobulin and oral methylprednisolone treatments, the patient was able to dorsiflex his left foot and walk without support.

Conclusions: To our knowledge, our case is the first pediatric case with the coexistence of Sjögren`s syndrome and CIDP. Therefore, we suggest investigating children with CIDP in terms of underlying autoimmune diseases such as Sjögren`s syndrome.

Background: Coronary arterial lesions (CALs) are the major component of Kawasaki disease (KD), associated with significant morbidity, which affect a substantial proportion of patients despite proper treatment. The aim of this study was to define the risk factors for CALs in Turkish children with KD.

Methods: Medical records of 399 KD patients from five pediatric rheumatology centers in Turkey were reviewed retrospectively. Demographic, clinical (including duration of fever before intravenous immunoglobulin [IVIG] and resistance to IVIG), laboratory and echocardiographic data were noted.

Results: The patients with CALs were younger, had a higher male ratio and a longer duration of fever before IVIG. They also had higher lymphocyte and lower hemoglobin values before the initial treatment. Multiple logistic regression analyses defined the following three criteria as independent risk factors for predicting CALs in Turkish children with KD: age ≤12 months, male gender and duration of fever before IVIG ≥9.5 days. High sensitivity rates of elevated risk of CALs up to 94.5% were calculated despite specificity values falling to 16.5%, depending on which of these three parameters are taken into account.

Conclusions: Based on the demographic and clinical features, we established an easily applicable risk-scoring system for predicting CALs in Turkish children with KD. This may be useful for choosing appropriate treatment and follow-up for KD to prevent coronary artery involvement. Further studies will show whether these risk factors can be used in other Caucasian populations as well.

Background: Tricho-rhino-phalangeal syndrome (TRPS) is a rare, autosomal dominant disorder characterized by typical craniofacial features, ectodermal and skeletal findings. TRPS type 1 (TRPS1) is caused by pathogenic variations in the TRPS1 gene, which relates to the vast majority of cases. TRPS type 2 (TRPS2) is a contiguous gene deletion syndrome involving loss of functional copies of the TRPS1, RAD21, and EXT1. Herein, we reported the clinical and genetic spectrum of seven TRPS patients with a novel variant. We also reviewed the musculoskeletal and radiological findings in the literature.

Methods: Seven Turkish patients (three female, four male) from five unrelated families aged between 7 to 48 years were evaluated. The clinical diagnosis was confirmed by either molecular karyotyping or TRPS1 sequencing analysis via next-generation sequencing.

Results: Both TRPS1 and TRPS2 patients had some common distinctive facial features and skeletal findings. All patients had a bulbous nose with hypoplastic alae nasi, brachydactyly, short metacarpals and phalanges in variable stages. Low bone mineral density (BMD) was identified in two TRPS2 family members presenting with bone fracture, and growth hormone deficiency was detected in two patients. Skeletal X-ray imaging revealed cone-shaped epiphysis of the phalanges in all, and multiple exostoses were present in three patients. Cerebral hamartoma, menometrorrhagia and long bone cysts were among the new/rare conditions. Three pathogenic variants in TRPS1 were identified in four patients from three families, including a frameshift (c.2445dup, p.Ser816GlufsTer28), one missense (c.2762G > A), and a novel splice site variant (c.2700+3A > G). We also reported a familial inheritance in TRPS2 which is known to be very rare.

Conclusions: Our study contributes to the clinical and genetic spectrum of patients with TRPS while also providing a review by comparing with previous cohort studies.

Background: Severe burns can readily induce gastric and duodenal mucosal erosions and superficial ulcers. In severe cases, haemorrhage or perforation of peptic ulcers might occur, threatening the lives of patients. At present, gastrointestinal haemorrhage after burns is treated mainly with drugs and gastrointestinal endoscopy. However, multidisciplinary treatment of gastroscopy combined with vascular embolization is rare.

Case: A boy aged 3 years and 4 months was admitted to the hospital, scalded by boiling water on multiple parts of the body. On the 8th day after the injury, the patient continuously produced a large amount of tarry black stool, and the faecal occult blood test was positive. Haemostatic drug treatment was ineffective, and severe shock and disseminated intravascular coagulation (DIC) occurred. Under the guidance of a multidisciplinary team (MDT), a gastroscopy examination was performed and showed bleeding from a duodenal bulb ulcer. Due to a small intestinal lumen and thin intestinal wall, bleeding could not be controlled by gastroscopy. However, the bleeding point was clarified by gastroscopy and then gastroduodenal artery embolization was performed efficiently. No active gastrointestinal bleeding was observed after the surgery. The patient was followed for 6 months after discharge, and no gastrointestinal haemorrhage recurred.

Conclusions: This is a rare case of acute massive upper gastrointestinal bleeding secondary to post-burn stress in paediatric patients. For paediatric patients who cannot be treated by endoscopy, transcatheter embolization may be safer and more effective for achieving haemostasis. Through the collaboration of the MDT, gastroscopy combined with interventional embolization was performed, which successfully stopped the massive bleeding and saved the child`s life, making it worthy of clinical reference.

Background: The aim of the study was to examine the effect of hyponatremia at admission as a negative prognostic factor in children hospitalized with COVID-19 pneumonia.

Methods: The data of patients aged 1 month-18 years, who were followed with the diagnosis of pneumonia at Çanakkale Onsekiz Mart University Hospital, Department of Pediatrics, between January 2018 and May 2021 were examined, retrospectively. Patients (n=661) were divided into two main groups; COVID-19 pneumonia (n=158) and the other pneumonias [other viral pneumonia (n=161) and pneumonia of unknown etiology (n=342)].

Results: Six hundred and twenty-three patients with a median (Q1-Q3) age of 4 (1.5-8) years, 59.4% of whom were male were included in the study. The overall prevalence of hyponatremia at admission was 11.2% and was lower in those with COVID-19 pneumonia than in those with other viral pneumonia (6.4% vs. 15.2%, p=0.013). When evaluated irrespective of their COVID-19 status, hyponatremic patients had a higher supplemental oxygen requirement (OR 2.5 [1.4-4.3], p < 0.001), higher need for intensive care unit (ICU) admission (OR 3.7 [1.3-10.2], p=0.009) and longer duration of hospitalization (p=0.016) than the normonatremic patients. In patients with COVID-19 pneumonia, being hyponatremic had no effect on supplemental oxygen requirements or the duration of hospitalization. When hyponatremic patients were evaluated, the supplemental oxygen requirements and duration of hospitalization of those with COVID-19 pneumonia were similar to the other pneumonias (p > 0.05 for all comparisons). However, normonatremic COVID-19 pneumonias had higher supplemental oxygen requirements than other viral pneumonias and pneumonia of unknown etiology (OR 4.7 [2.2-10.3], p < 0.001; OR 1.6 [1 -2.7], p=0.043, respectively).

Conclusion: This study found that hyponatremia at admission is rarer in children with COVID-19 pneumonia than other viral pneumonias and has no effect on supplemental oxygen requirements or the duration of hospitalization.

Background: Vaccine refusal is a global trend and was announced as one of the top ten health threats in recent years. The rate of vaccine refusal (VR) among children with autism spectrum disorders (ASD) has also increased in parallel with the global trend but their vaccination behavior may differ from that of the normal population. This study aims to determine the VR rates among parents of children with ASD, to define the risk factors for developing VR, and to evaluate the parental concerns for childhood vaccinations in this susceptible population.

Methods: We conducted a 4-part survey questionnaire among parents of children with ASD, evaluating the vaccination status for both the child with ASD and their younger sibling. The vaccination uptake of the first child was accepted as the `baseline` behavior, while the following sibling`s uptake was suggested as the `current` behavior. The risk factors of VR were determined with logistic regression analysis.

Results: The study group included 110 parents of children with ASD (M/F:76/34) and their younger siblings (M/F:57/53). The rate of `baseline VR` was 12.7 % whereas the `current VR` was 40% (p=0.001). High socioeconomic status (relative risk [RR]: 4.4; 95% confidence interval [CI]: 1.01-16.6; p=0.04), using social media as the main source of information (RR: 7; 95% CI: 1.5-32; p= 0.01) and lack of regular well-child visits of the sibling (RR: 25; 95% CI 4.1-166; p=0.001) were determined as risk factors for VR.

Conclusions: The vaccination behavior of parents changed after having a child with ASD, and thus, the younger siblings may constitute a risk group for VR. In clinical practice, pediatricians should be aware of this risk and evaluate the vaccination uptake of the younger siblings of children with ASD more carefully. Regular well-child visits and improving media literacy may be the key points to prevent VR in this susceptible population.