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Background. Cerebroretinal microangiopathy with calcifications and cysts formerly known as Coats plus syndrome is a rare multisystemic autosomal recessive disease that affects the eyes, brain, bone, and gastrointestinal system. Intestinal telangiectasia are components of vascular malformations characterized by gastrointestinal system bleedings. Recurrent gastrointestinal system bleedings have been reported as being due to hepatic failure or vascular malformations of the gastrointestinal system tract. Case. Here we report a patient who presented with recurrent gastrointestinal system bleeding episodes, bilateral exudative retinopathy, intracranial calcification and was diagnosed with Coats plus syndrome. Recurrent gastrointestinal system bleeding was controlled by monthly octreotide treatment. Conclusions. Coats plus syndrome presenting with vascular malformations should always be kept in mind in a patient with recurrent gastrointestinal bleeding and accompanying systemic physical findings. Octreotide treatment is an important option for patients with life threatening gastrointestinal system bleeding. Long term use of octreotide treatment can be used successfully in selected pediatric cases.

PurposeCOVID-19 and influenza infections have similar modes of transmission and clinical symptoms but have different prognoses and treatment methods; therefore, it is important to make a final diagnosis. Herein, we aimed to compare the demographic, clinical, and laboratory differences in hospitalized pediatric patients with COVID-19 and influenza.MethodsThis retrospective study comprised patients with COVID-19 managed between March 2020 to February 2022, and patients with influenza managed between December 2017 to February 2022, at a tertiary care hospital. The clinical data and laboratory parameters were obtained from the medical records of the hospital. Pediatric intensive care unit (PICU) admission, need for oxygen support, and the mortality rates of the patients were recorded and compared statistically.ResultsOverall, 107 patients with COVID-19 and 250 patients with influenza were included. Underlying chronic disease (UCD) rates were statistically higher in patients with COVID-19 (p < 0.001). When the symptoms were compared, fever, cough, and runny nose were more common in patients with influenza, and abdominal pain and rash were more common in patients with COVID-19 (p < 0.05). In patients with influenza, white blood cell count and absolute neutrophil count values were lower (p = 0.021 and p = 0.037, respectively), and aspartate aminotransferase and creatinine kinase values were higher (p = 0.007 and p < 0.001, respectively). PICU admission rates and oxygen support needs were similar in both groups (p > 0.05). When the virus was COVID-19, it had 7.8 times higher risk of mortality compared to influenza (p = 0.002). There were statistically significant risk for mortality when the virus was COVID-19, the risk of mortality was 6.9 times higher in those with UCD, 8.5 times higher in those with admission to PICU and 3.8 times higher in those with needing mechanical ventilation (MV) compared to when the virus was influenza (p = 0.004, p = 0.006 and p = 0.049, respectively). The mortality rate was higher in patients with COVID-19 (p = 0.007).ConclusionThis study showed that COVID-19 might negatively affect the survival times and increase mortality rates, especially in children with an UCD, admitted to the PICU and in need of MV.

Glucose 6 phosphate dehydrogenase (G6PD) is expressed in all tissues and is necessary to maintain oxidant stress capacity of cells. G6PD deficiency is the most common enzymopathy in humans and is among the important causes of hemolytic anemia. It has been reported that severe hemolytic anemia due to G6PD deficiency may develop in newly diagnosed diabetes, especially during the correction of hyperglycemia. To date, nine cases have been published. Genetic analysis was not performed for G6PD deficiency in these published patients. We present a case of hemolytic anemia due to G6PD deficiency secondary to newly diagnosed type 1 diabetes mellitus. Genetic testing was performed for the index patient and revealed a previously reported missense pathogenic variant (c.653C>T; p.Ser218Phe) in the gene.

Hypomagnesemia is a rare cause of seizures in childhood but should be kept in mind in recurrent and intractable seizures and hypocalcemia in communities where consanguineous marriages are common. Familial hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia, due to variants in the 6 ( ) genes. Here, a three year-old boy with a novel variant in this gene and had difficulties with enteral hypomagnesemia treatment is presented. He had recurrent seizures since two years of age and was diagnosed with epilepsy and treated with multiple antiepileptic drugs. Subsequently, he was diagnosed with rickets due to severe hypocalcemia at another center. The patient was hypotonic and neurodevelopmentally poor. The most prominent laboratory finding was of hypomagnesemia with secondary hypocalcemia. The genetic analysis revealed a novel variant in the gene. After parental treatment of intravenous magnesium (Mg2 ) sulfate and calcium, the treatment was switched to enteral Mg2 medications, due to persistent hypomagnesemia and the gastrointestinal side-effects, different oral preparations were used. The patient was stable on an oral maintenance dose of Mg2 oxide with borderline blood Mg2 levels and resolution of hypocalcemia. Hypomagnesemia is one of the causes of hypocalcemia. Enteral replacement is the key treatment but the treatment should be individualized for each patient. Normalization of hypomagnesemia is not always easy and should not be the aim of the treatment.

Takayasu's arteritis (TA) and Crohn's disease (CD) are both immune-mediated, chronic, recurrent granulomatous inflammatory diseases that are rarely seen in children.1,2 Here, we present an adolescent female patient with CD with severe upper gastrointestinal system involvement diagnosed as TA to guide the probable common pathophysiological pathways and to remind regarding the possibility of the coexistence of these two diseases. At the eighth month follow-up, acute phase indicators started to increase (erythrocyte sedimentation rate: 80 mm/h, C-reactive protein: 92 mg/dL) in routine controls without any symptoms. The coexistence of these two diseases rather than coincidence is associated with common features in etiopathogenesis.3-5 The inflammation process is conducted by the similar cytokines like tumor necrosis factor-alpha and interleukin (IL)-6 in both diseases.4,5 The fact that p40, the product of IL-12 associated with TA, is a subgroup of IL-23, one of the genes implicated in the pathogenesis of CD, suggests that both diseases have common genetic characteristics.5 Granulomatous reaction and mononuclear inflammation are common histopathological features of both diseases.4,5 Until now, few case reports have reported TA and CD in the same patient, though such coexistence has been hypothetically predicted to occur in only one in 10 billion individuals.6,7 Primarily, it is important to be careful in terms of extra-intestinal involvement in CD and the findings of other autoimmune diseases in terms of the course of the disease and prevention of complications.

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.

Cardiac involvement is an uncommon and life-threatening complication of Behçet`s Disease. We present a 14-year-old boy, admitted to our hospital for recurrent hemoptysis. In his radiologic evaluation, a right ventricular thrombus and pulmonary arterial aneurysm were identified. He was diagnosed with Behçet`s Disease, and then he received prednisone and cyclophosphamide. However, his cardiac thrombus enlargened. After his treatment was replaced with infliximab, the pulmonary aneurysms regressed, and the cardiac thrombus disappeared. In conclusion, infliximab should be considered as a reliable option for vascular Behçet`s Disease resistant to conventional treatment.

Deficient activity of N-acetylglucosamine-1-phosphotransferase leads to defective post-translational modification of lysosomal enzymes, promoting the intracellular accumulation of both partly degraded glycosaminoglycans and sphingolipids.1\"3 The trafficking process that transports the lysosomal enzymes to the interior of lysosomes is impaired. [...]the degradative enzymes accumulate at high concentrations in plasma serving as a diagnostic evidence for mucolipidosis II/III. The differential diagnosis of ML II or III is based on the age of onset, clinical findings and degree of severity.4,5 In this article, we present four pediatric patients with joint stiffness and diagnosed as ML III or pseudo-Hurler polydystrophy with characteristic radiographic findings to attract attention to this rare entity in pediatric rheumatology. Patients usually present between two and four years of age with symptoms referable to the joints.4-6 The typical clinical symptoms include short stature, cardiac valve involvement, normal intelligence or mild mental retardation, normal corneal appearance or steaminess of the cornea, and scoliosis and skeletal and orthopedic complications including hand and shoulder stiffness, claw-hand deformities, short iliac wings, erosion of the femoral heads, dysostosis multiplex of the vertebral bodies, long bones, skull, phalanges and clavicles with no to mild organomegaly.3-7 Cardiopulmonary complications are the usual reasons of mortality in patients with ML III.

Refugee children are defined as an at-risk population as they have a high risk of physical and mental health conditions. While data exist regarding the mental health of refugee children, there are limited data about their medical health issues and mortality. Therefore, this study aimed to analyze the demographic data, clinical results, treatment/management data, and mortality data of hospitalized refugee children. This is a descriptive study that analyzed the demographic data, clinical findings, treatment/management data, and mortality data of 728 refugee children aged between 1 month and 18 years who were hospitalized in a tertiary pediatric hospital between 2013 and 2018. During the 5 year duration of this study (2013–2018), there were 12,031 patients hospitalized in the department of general pediatrics. Of these patients, 728 (6%) were refugee children [median age 1.2 (IQR 4.4) years]. The most frequent ethnic origin was Syrian, followed by Iraqi and Afghan [465 (63.87%); 174 (23.9%), and 39 (5.3%), respectively]. The median duration of hospitalization was 6 (IQR 6) days. Those refugee patients who were hospitalized in the pediatric intensive care unit were significantly younger [median age 3.7 (IQR 9.4) years]. The mortality rate in the department of general pediatrics was 16.4% for refugee patients and 8.6% for non-refugee patients (p = 0.001). A logistic regression model revealed that factors associated with mortality included younger age (OR 1.6; CI 1.2–2.1) and being a refugee (OR 2.1; CI 1.3–3.2). Our study revealed detailed knowledge about demographic, clinical, and mortality data, with the largest known series about refugee children in the literature. The results show that mortality rates are significantly higher in refugee pediatric patients who are hospitalized in Turkey than in non-refugee patients.