Turkish Journal of Pediatrics最新文献

Background: Klippel-Trenaunay syndrome (KTS) is an overgrowth syndrome associated with capillary/venous/ lymphatic malformations with limb hypertrophy and cancer risk. Various cancers, mostly Wilms tumor, have been reported in patients with KTS, but not leukemia. Chronic myeloid leukemia (CML) is also a rare disease in children, where there is no known disease or syndrome to predispose to CML.

Case: We report a case of CML incidentally diagnosed in a child with KTS when he was bleeding from surgery of the left groin for vascular malformation.

Conclusions: This case reflects the variety of cancer types that may accompany KTS and provides information about CML prognosis in such patients.

Background: This study aimed to evaluate the etiology and prognosis of patients followed up for pediatric acute arterial ischemic stroke.

Methods: The clinical characteristics and etiology of patients aged 1 month-18 years who had acute arterial ischemic stroke between January 2010 and December 2020 were retrospectively evaluated. At last follow-up, the patients` functionality (Barthel Index, Functional Independence Measure), quality of life (SF-36 questionnaire), and motor outcomes (Gross Motor Function Classification System) were recorded prospectively/crosssectionally.

Results: Forty children (25 boys) with a median current age of 112.5 months (range: 3.6-294) were included in the study. The most frequent etiology was prothrombotic disorders, and the most important factor associated with long-term mortality was valvular heart disease. Of the 27 (67.5%) surviving patients, 29.6% had positive motor outcomes and 29.6% were independent according to the Barthel Index. In terms of quality of life, SF-36 scores were highest in the pain scale and lowest in emotional role difficulty.

Conclusions: Determining the etiology and evaluating prognosis are important to plan effective treatment and rehabilitation for pediatric acute arterial ischemic stroke.

Background: Chronic inflammatory demyelinating neuropathy has been reported after the use of tumor necrosis factor inhibitors. The mechanisms of nerve injury caused by tumor necrosis factor inhibitors are not yet well understood.

Case: In this paper, we report a 12 year and nine month old girl who developed chronic inflammatory demyelinating neuropathy in the course of juvenile idiopathic arthritis after etanercept withdrawal. She became non-ambulant with four-limb involvement. She received intravenous immunoglobulins, steroids, and plasma exchange, but had a limited response. Finally, rituximab was given and a slow, but progressive clinical improvement was seen. She was ambulant four months after rituximab treatment. We considered chronic inflammatory demyelinating neuropathy as a probable adverse effect of etanercept.

Conclusions: Tumor necrosis factor inhibitors could elicit the demyelinating process, and chronic inflammatory demyelinating neuropathy might persist despite treatment discontinuation. First-line immunotherapy may be inefficient as in our case, and aggressive treatment may be necessary.

Background: Congenital hypothyroidism (CH) is a common endocrine disorder that can be treated if timely detected by newborn screening, optimizing the developmental outcome in affected children. In the present study, we analyze the data of the national newborn thyroid screening program in North Macedonia collected over twenty years, including the CH prevalence as well as its geographical and ethnic variations.

Methods: The thyroid-stimulating hormone (TSH) was measured on a filter paper blood spot sample using the DELFIA fluoroimmunometric assay. A TSH value of 15 mIU/L whole blood was used as the cutoff point until 2010 and 10 mIU/L thereafter.

Results: Out of 377,508 screened live births, a total of 226 newborns with primary CH were detected, providing an overall prevalence of 6.0 per 10,000. Lowering the TSH cutoff led to an apparently increased prevalence of the transient CH, from 0.2 to 2.4 per 10,000 live births (p < 0.0001) with an impact on the overall prevalence of primary CH (from 4.0 to 7.1 per 10,000, p=0.0001). Taking ethnicity into account, the significantly highest primary CH prevalence of 11.3 per 10,000 live births was observed among the Roma neonates, with a predominance of permanent CH (75.5%). There were also regional differences in the prevalence of primary CH. The highest primary CH prevalence of 11.7 per 10,000 live births was observed in the Vardar region, together with the highest regional prevalence of the transient CH (3.2 per 10,000). The highest prevalence of permanent CH was observed in the Pelagonia region (6.6 per 10,000) where the largest percentage of the Roma population lives.

Conclusions: The overall CH prevalence is high in North Macedonia, with substantial ethnic and geographical variations. Further analysis to elucidate the causes for the significant variations in the CH prevalence including environmental factors is warranted.

Background: Cardiac involvement in multisystem inflammatory syndrome in children may have a spectrum ranging from mild disease to severe heart failure due to fulminant myocarditis. Cardiac involvement usually resolves after clinical recovery. However, the adverse effects of myocarditis on cardiac function after recovery are not fully known. This study aims to investigate cardiac involvement by performing cardiac magnetic resonance imaging (MRI) after the acute and recovery periods.

Methods: 21 patients with clinical and laboratory signs of myocarditis, including left ventricular systolic dysfunction, mitral regurgitation, elevated troponin T, elevated N-terminal pro-B-type natriuretic peptide and electrocardiographic changes, who had given consent for cardiac MRI, underwent cardiac MRI after completion of the acute and recovery phases.

Results: When compared to 16 patients with normal cardiac MRI, five patients with cardiac fibrosis on MRI were older, had greater body mass indexes, lower leucocyte counts, lower neutrophil counts, higher blood urea nitrogen levels and higher creatinine levels. Cardiac fibrosis on MRI was located in the posterior right ventricle insertion point and in mid ventricular septum.

Conclusions: Adolescence and obesity appear as risk factors for the development of fibrosis as a late-term sequela of myocarditis. Furthermore, future studies reporting the follow-up data of patients with fibrosis are necessary to predict and manage adverse outcomes.

Background: Catatonia is a complex neuropsychiatric disorder involving stupor, waxy flexibility, and mutism lasting more than 1 hour. It has arisen mostly from mental and neurologic disorders. Organic causes are more prominent in children.

Case: A 15-year-old female who had refused to eat and drink for 3 days, had not talked, and had stood in a fixed position for long periods was admitted to the inpatient clinic, and she was diagnosed with catatonia. Her maximum score on the Bush-Francis Catatonia Rating Scale (BFCRS) was 15/69 on day 2 of her stay. On neurologic examination, the patient`s cooperation was limited, and she was apathetic to her surroundings and stimuli and inactive. Other neurologic examination findings were normal. To investigate catatonia etiology, her biochemical parameters, thyroid hormone panel, and toxicology screening were conducted but all parameters were normal. Cerebrospinal fluid examination and autoimmune antibodies were negative. Sleep electroencephalography showed diffuse slow background activity, and brain magnetic resonance imaging was normal. As a first-line treatment for catatonia, diazepam was started. With her poor response to diazepam, we continued to evaluate the cause and found the transglutaminase levels were 153 U/mL (normal values, < 10 U/mL). The patient`s duodenal biopsies showed changes consistent with Celiac disease (CD). Catatonic symptoms did not benefit from a gluten-free diet or oral diazepam for 3 weeks. Then, diazepam was replaced with amantadine. With amantadine, the patient recovered within 48 hours, and her BFCRS retreated to 8/69.

Conclusions: Even without gastrointestinal manifestations, CD may present with neuropsychiatric symptoms. According to this case report, CD should be investigated in patients with unexplained catatonia, and that CD may only present with neuropsychiatric symptoms.

Background: This study aimed to validate the Turkish version of Collins` Body Figure Perceptions and Preferences (BFPP) scale. The second aim of this study was to investigate the relationship between body image dissatisfaction (BID) and body esteem (BE), and between body mass index (BMI) and BID, among Turkish children.

Methods: A descriptive cross-sectional study was conducted among 2066 4th grade children (mean age was 10.06 ± 0.37 years) in Ankara, Turkey. The Feel-Ideal Difference (FID) index from Collins` BFPP was used to assess the degree of BID. FID ranges from -6 to +6, with scores below or above 0 indicating BID. Collins` BFPP`s test-retest reliability was evaluated in a subset of 641 children. The Turkish version of the BE Scale for Adolescents and Adults was used to evaluate the children` BE.

Results: More than half of the children were dissatisfied with their own body images (57.8% of girls vs. 42.2% of boys, p < .05). The lowest BE score in both genders was among adolescents who desired to be thinner (p < .01). The criterion-related validity of Collins` BFPP, in relation to BMI and weight, was at an acceptable level in girls (BMI rho= 0.69, weight rho= 0.66) and boys (BMI rho= 0.58, weight rho= 0.57), and was statistically significant in all cases (p < .01). The test-retest reliability coefficients of Collins` BFPP were found to be moderately high for both girls (rho=0.72) and boys (rho=0.70).

Conclusions: Collins` BFPP scale is a reliable and valid tool for Turkish children aged 9-11 years. This study demonstrates that more Turkish girls than boys were dissatisfied with their bodies. Children who were affected by overweight/obesity and underweight had a higher BID than those with a normal weight. It is important to evaluate adolescents` BE and BID in addition to their anthropometric measurements during their regular clinical follow-up.

Background: Anemia is a common nutritional problem in children, especially those under five. Lactoferrin (Lf) as a supplement in treating iron deficiency anemia (IDA) has been studied, but its results in children have not been reviewed. This review aims to evaluate the effect of lactoferrin on children with IDA.

Methods: PubMed, ProQuest, EBSCO and Ovid databases were searched using a variation of keywords: lactoferrin, anemia, and children. The literature selected must be clinical trial-based in design. The years of the studies published were limited to 2012 and 2022.

Results: Eleven studies were included in the final systematic review, consisting of 10 randomized controlled trials (RCTs) and 1 non-randomized trial. Serum ferritin (SF) and hemoglobin (Hb) were found to be increased in groups treated with Lf or a combination of Lf and elemental iron compared to iron only or placebo supplementation. Adverse events such as constipation, vomiting, anorexia, and abdominal pain were found; particularly, a significant decrease in constipation is seen in Lf-treated groups.

Conclusions: This study supports Lf as a superior treatment for IDA in children regarding the improvement in hematological and iron indices and fewer adverse effects.

Background: Liver transplantation (LT) is a well-established, life-saving treatment for children with irreversible acute and chronic liver failure (LF). We aimed to evaluate the factors associated with morbidity and mortality in the early period of LT in children by reviewing our pediatric intensive care unit (PICU) experience.

Methods: We reviewed children`s medical records followed in the PICU after LT between May 2015-August 2021, including demographic parameters, indications for LT, operative variables, respiratory and circulatory support requirements, LT-related complications and survival.

Results: During this period, 40 pediatric patients who underwent LT were evaluated. LT was performed in 35 (87.5%) cases of chronic liver disease and 5 (12.5%) cases of acute liver failure. Twenty-four patients had chronic liver failure due to cholestatic liver disease. The patients` Pediatric Risk of Mortality (PRISM) III score was 18.82±SD (2-58) at PICU admission. 1-year survival was 87.5%, and overall survival was 85%. Younger age, low body weight, preoperative pediatric end-stage liver disease (PELD), and model for end-stage liver disease (MELD) values of 20 and higher were important risk factors for unfavorable outcomes after living donor liver transplantation (LDLT). These risk factors are both associated with technically more challenging vascular and bile duct reconstruction and higher complication rates, and increased mortality during the early period after LT.

Conclusions: The early period of optimum PICU management in pediatric LT recipients is crucial for successful outcomes, which is also related to the patients` characteristics, disease severity scores, and surgical procedures.

Background: Dinutuximab is a monoclonal antibody that targets the GD2 antigen used in the treatment of high-risk neuroblastoma. Dinutuximab-associated rhombencephalitis and myelitis is a rare, steroid-responsive, serious, but reversible pathology. To date, three transverse myelitis cases and one rhombencephalitis case due to dinutuximab have already been reported. Moreover, a recently published article identified five inflammatory CNS demyelination cases (four myelitis and one rhombencephalitis). We present a 5-year-old patient with rhombencephalitis and myelitis following dinutuximab-beta treatment.

Case: A 5-year-old patient with a left-sided retroperitoneal mass infiltrating the left kidney and multiple lytic bone lesions was diagnosed with neuroblastoma with a percutaneous biopsy from the abdominal mass. Surgery was performed after a prominent treatment response was detected on the abdominal CT. Radiotherapy was applied to the abdomen. While she was still undergoing maintenance treatment with 13-cis retinoic acid, a metaiodobenzylguanidine (MIBG) scan detected new bone lesions, and brain MRG identified pachymeningeal involvement. A new chemotherapy regimen was started and decreased MIBG uptake was seen in all previous bone lesions. However, newly developed eighth rib metastasis was seen in the following MIBG scan. Autologous stem cell transplantation was done. Soon after, dinutuximab-beta, together with temozolomide and irinotecan, was initiated. Following the third cycle hypotension, somnolence, paraparesis, and unilateral fixed dilated pupil were developed. Afterward, hemiballismus-like irregular limb movements were observed. Work-up studies were unremarkable, except for hypodensity in the brain stem on the brain CT. MRI revealed T2 hyperintensity of the brainstem and spinal cord extending from the cervicomedullary junction to the T7 level. Moreover, incomplete contrast enhancement and facilitated diffusion were observed. Imaging findings suggested demyelination. Steroids and intravenous immune globulin (IVIG) treatment were initiated. Both imaging abnormalities and clinical symptoms resolved partially at one month and disappeared at six months.

Conclusions: Awareness of the radiological findings of dinutuximab toxicity will lead to prompt diagnosis and treatment.