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  • 1.

    【2hr】Genetic Predisposition for Immune System, Hormone, and Metabolic Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Pilot Study

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    机译 遗传性易感性脑脊髓炎/慢性疲劳综合征的免疫系统，激素和代谢功能异常的遗传易感性：一项初步研究
    摘要：Introduction: Myalgic Encephalomyelitis/ Chronic Fatigue Syndrome (ME/CFS) is a multifactorial illness of unknown etiology with considerable social and economic impact. To investigate a putative genetic predisposition to ME/CFS we conducted genome-wide single-nucleotide polymorphism (SNP) analysis to identify possible variants.Methods: 383 ME/CFS participants underwent DNA testing using the commercial company 23andMe. The deidentified genetic data was then filtered to include only non-synonymous and nonsense SNPs from exons and microRNAs, and SNPs close to splice sites. The frequencies of each SNP were calculated within our cohort and compared to frequencies from the Kaviar reference database. Functional annotation of pathway sets containing SNP genes with high frequency in ME/CFS was performed using over-representation analysis via ConsensusPathDB. Furthermore, these SNPs were also scored using the Combined Annotation Dependent Depletion (CADD) algorithm to gauge their deleteriousness.Results: 5693 SNPs were found to have at least 10% frequency in at least one cohort (ME/CFS or reference) and at least two-fold absolute difference for ME/CFS. Functional analysis identified the majority of SNPs as related to immune system, hormone, metabolic, and extracellular matrix organization. CADD scoring identified 517 SNPs in these pathways that are among the 10% most deleteriousness substitutions to the human genome.
  • 2.

    【2hr】Lactobacillus reuteri DSM 17938 Probiotics May Increase CC-Chemokine Receptor 7 Expression in Infants Treated With for Colic

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    机译 罗伊氏乳杆菌DSM 17938益生菌可能会增加接受肠绞痛治疗的婴儿的CC-趋化因子受体7表达
    摘要：Aim: Studies have shown that Lactobacilli reuteri probiotics can affect cells that play a key role in the immune system. This in vivo Italian study investigated how Lactobacillus reuteri DSM 17938 influenced CC-chemokine receptor 7 (CCR7) and interleukin 10 (IL-10) in breastfed colicky infants.Methods: Our University hospital in Turin recruited 50 healthy outpatients, at a median age of approximately 1 month, from September 2017 to August 2018. They were randomized to daily Lactobacillus reuteri DSM17938 (1 × 108 cfu) or a placebo for 28 days from recruitment. We collected peripheral blood and evaluated the expression of CCR7 messenger ribonucleic acid using the real-time TaqMan reverse transcription polymerase chain reaction method at baseline and after the study period.Results: We found increased expression of CC-chemokine receptor 7 in infants treated with the probiotic, but not the controls (p < 0.0026). No differences were observed for interleukin 10 after the study period in either group. At baseline, daily crying time was comparable in the probiotic and control groups: 341 (25) vs. 337 (29) min., respectively (p = 0.450). After 28 days, daily mean crying time decrease statistically in the probiotic group: 78 (23) vs. 232 (31), respectively (p < 0.001).Conclusion: The increase in CC-chemokine receptor 7 might have been a response to probiotic treatment. As a relatively small sample was used to conduct this study, our research needs to be replicated in different settings, and over time, to produce comparable findings.
  • 3.

    【2hr】Focus on Cardiologic Findings in 30 Children With PANS/PANDAS: An Italian Single-Center Observational Study

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    机译 意大利单中心观察研究重点关注30名PANS / PANDAS儿童的心脏检查结果
    摘要：Objective: Cardiac involvement in PANS has not been clarified relying on the scientific literature available until today. It is known that streptococcal infections play a role in the etiology of a great number of diseases including Sydenham chorea and rheumatic fever, among others. Based on the suspected pathogenesis of PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections) reported in the medical literature, we decided to investigate the cardiologic involvement in children with a recent PANS/PANDAS diagnosis.Methods: The study population satisfies PANS () and PANDAS () criteria of diagnoses. Cardiologic assessment was performed through clinical examination, electrocardiography, and echocardiography.Results: In the selected pediatric population, a significant number of children presented mitral valve involvement, systolic murmurs and electrocardiographic abnormalities. High ASLOT levels did not seem to be associated to a cardiac involvement.Conclusions: Often PANS is difficult to diagnose because it is little known by physicians and most of the cardiologic findings described in this study are common among the healthy pediatric population. Also, ASLOT levels seems not to be predictive of cardiac involvement. Furthermore, the existence of PANDAS as a clinical entity is associated with a group of anti-neuronal autoantibodies found in Sydenham chorea is still controversial. We recommend a complete cardiologic evaluation in those children who meet the PANS/PANDAS diagnostic criteria.
  • 4.

    【2hr】Emphysematous Pyelonephritis Following Ureterovesical Reimplantation for Congenital Obstructive Megaureter. Pediatric Case Report and Review of the Literature

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    机译 先天性阻塞性大输尿管输尿管膀胱再植后的气肿性肾盂肾炎。儿科病例报告及文献复习
    摘要：Introduction: Emphysematous pyelonephritis (EPN) is a rare, life-threatening necrotizing infection of the kidney. To date, very few cases of EPN have been described in the pediatric age. The first case of EPN in a toddler occurring after ureterovesical reimplantation for congenital obstructive megaureter is reported with a literature review.Case Report: A 23-month-old male, with a prenatal diagnosis of obstructive megaureter and incomplete duplication of the left urinary tract, was admitted to our Unit where he underwent surgery to treat increased dilatation of the renal pelvis and appearance of an obstructive curve. The latter was revealed at renal scintigraphy, the exam highlighted the radiographic aspect of the cortical renal parenchymal sufferance. At admission preoperative exams were normal, and no recurrent urinary tract infections were documented. Surgical removal of the left stenotic ureteral common tract of the incomplete duplex collecting system was accomplished; ureterovesical reimplantation was performed without ureteral recalibration. No intraoperative complications were recorded. In the immediate postoperative period, urosepsis and the patient's lethargic condition led to life-threatening conditions requiring urgent admission to the intensive care unit. Biochemical analysis showed leukocytosis, anemia, increased C-reactive protein, prolonged prothrombin time, pancytopenia, hyponatremia. Abdominal sonographic evaluation revealed the presence of gas in the left kidney. Unilateral EPN (Class 2) was confirmed by CT- scan. Escherichia coli was cultured from peripheral blood and antimicrobial therapy was started. No additional interventions were required. The child was discharged 14 days postoperatively with normal renal function.Conclusion: EPN is a serious condition that can occur after surgical treatment for urinary tract obstruction. Early detection of air in the kidney should be considered a sign of complicated urinary tract infection. Immediate aggressive resuscitation and antimicrobial therapy are effective and curative with a positive outcome.
  • 5.

    【2hr】Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation

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    机译 与亚型IL2RG突变相关的爱泼斯坦-巴尔病毒相关的γδT细胞淋巴组织增生性疾病
    摘要：Chronic active Epstein-Barr virus (EBV) infection (CAEBV) is an EBV-associated lymphoproliferative disease characterized by repeated or sustainable infectious mononucleosis (IM)-like symptoms. EBV is usually detected in B cells in patients who have IM or Burkitt's lymphoma and even in patients with X-linked lymphoproliferative syndrome, which is confirmed to have vulnerability to EBV infection. In contrast, EBV infects T cells (CD4+ T, CD8+ T, and γδT) or NK cells mono- or oligoclonally in CAEBV patients. It is known that the CAEBV phenotypes differ depending on which cells are infected with EBV. CAEBV is postulated to be associated with a genetic immunological abnormality, although its cause remains undefined. Here we describe a case of EBV-related γδT-cell proliferation with underlying hypomorphic IL2RG mutation. The immunological phenotype consisted of γδT-cell proliferation in the peripheral blood. A presence of EBV-infected B cells and γδT cells mimicked γδT-cell-type CAEBV. Although the patient had normal expression of CD132 (common γ chain), the phosphorylation of STAT was partially defective, indicating impaired activation of the downstream signal of the JAK/STAT pathway. Although the patient was not diagnosed as having CAEBV, this observation shows that CAEBV might be associated with immunological abnormality.
  • 6.

    【2hr】Central Venous Sinus Thrombosis in a Boy With Acute Severe Ulcerative Colitis

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    机译 急性重症溃疡性结肠炎男孩的中央静脉窦血栓形成
    摘要：Cerebral venous sinus thrombosis (CVST) in childhood is uncommon. Certain diseases predispose patients to CVST, such as inflammatory bowel disease (IBD), which is considered a risk factor for developing thrombosis, which in turn is considered an extraintestinal manifestation of IBD. The use of prophylaxis in certain patients is a controversial topic. We present the case of a 5-years-old child with ulcerative colitis, who presented with transverse sinus thrombosis immediately after colectomy. Considering the recent recommendations on prophylaxis in this disease, our patient and probably many others would benefit from establishing treatment with low-molecular-weight heparin. We believe that these recommendations should be known, with our case serving as an example, given that we are heading in a direction that has so far been controversial.
  • 7.

    【2hr】Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation of FOXP3 Gene

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    机译 免疫失调，多内分泌病，肠病，X链接综合征与FOXP3基因的新型突变。
    摘要：The immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare, x-linked, recessive disorder characterized by dysfunction of the T regulatory (Treg) lymphocytes leading to autoimmune diseases. Herein we report a male patient with IPEX syndrome who presented with severe diarrhea, eczema, and malabsorption leading to failure to thrive and necessitating total parenteral nutrition, as well as with liver dysfunction. Laboratory investigation showed elevated liver enzymes that declined following treatment with glucocorticosteroids and immunosuppressive drugs, marked eosinophilia, increased total IgE, and decreased Treg cells. DNA analysis revealed that the patient himself was hemizygous and his mother heterozygous for the exon 10, c.1015C>T (p.Pro339Ser) mutation of the FOXP3 gene, which has not been previously reported. The current case indicates that mutations resulting in substitution of a certain amino-acid (i.e., proline 339) by different amino-acids are manifested with different IPEX phenotypes.
  • 8.

    【2hr】Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation

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    机译 纯合子R553X突变的中国囊性纤维化儿童肝衰竭。
    摘要：Cystic fibrosis (CF) is a relatively rare disease in Asians with various clinical characteristics, including CF-associated liver disease (CFLD), which is a common early non-pulmonary complication. This case report describes a Chinese CF patient harboring a homozygous nonsense mutation (c.1657C>T, p.R553X) who was failure to thrive and had intermittently diarrhea during the first year after birth. Liver function test of the patient showed the mildly and intermittently elevated alanine aminotransferase (ALT) levels ranging from 70 to 92 U/L and aspartate aminotransferase (AST) levels ranging from 80 to 90 U/L, which began at 8 months of age and lasted for 4 years without CF diagnosis. In addition, abdominal computed tomography (CT) revealed diffuse fatty infiltration of the liver at 4 years old and gradually developed hepatic cirrhosis. Subsequently, cirrhosis rapidly progressed with obvious splenomegaly and pancreatic insufficiency and the patient died of liver failure with coagulopathy by the age of 6 years old. Pediatricians should remain vigilant to avoid failure to diagnose CF, the occurrence of which may be underestimated, and pay greater attention to the patients with atypical clinical manifestations in Asian countries.
  • 9.

    【2hr】Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

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    机译 外显子组分析鉴定了导致沙特阿拉伯一名儿童的层状鱼鳞病的TGM1基因的新型复合杂合改变：病例介绍
    摘要：Background: Lamellar ichthyosis is an autosomal recessive type of rare skin disorders characterized with defective epidermis leading hyperkeratosis with brownish-gray scales over the body. These patients are born as collodion babies and may also exhibit additional features like erythema, ectropion, and eclabium. This disease is mainly caused by homozygous and compound heterozygous alterations in transglutaminase 1 encoding gene (TGM1), which is located on 14q12.Case presentation: This study reports the genetic analysis of a 4-year Saudi girl presenting lamellar ichthyosis. She was the first child of unrelated parents. The family had no previous history of the disease phenotype. She was born as a collodion baby without any prenatal complications. At the time of this study she had developed rough scaly skin on her legs, arms and trunk regions with thick palms and soles. Whole exome sequencing (WES) followed by Sanger sequence validation identified a novel compound heterozygous variant in TGM1 gene. The paternal variant was a missense transition (c.1141G>A; p.Ala381Thr) present at exon 7, while maternal variant (c.758-1G>C) was present at the intron4-exon5 boundary. To the best of our knowledge these variants had not been reported before in TGM1 gene.Conclusion: In isolated and inbred populations, homozygous variants are identified more frequently; however, our results suggest that compound heterozygous variants should also be considered especially when the marriages are not consanguineous.
  • 10.

    【2hr】Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes

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    机译 纯红细胞发育不良（PRCA）和小脑发育不全是I型多腺自身免疫综合症（APS-1）的典型特征：两个姐妹具有相同的AIRE突变但表型不同
    摘要：The polyglandular autoimmune syndrome type I is a rare hereditary autosomal recessive disease. We describe a child with the classic triad of the disease and her sister with pure red cell aplasia and cerebellar hypoplasia. The latter received two haematopoietic stem cell transplantations, complicated by an acute disseminated encephalomyelitis.
  • 11.

    【2hr】Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

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    机译 X连锁SCID的两个独特案例：新生儿筛查时代的诊断挑战
    摘要：In the era of newborn screening (NBS) for severe combined immunodeficiency (SCID) and the possibility of gene therapy (GT), it is important to link SCID phenotype to the underlying genetic disease. In western countries, X-linked interleukin 2 receptor gamma chain (IL2RG) and adenosine deaminase (ADA) deficiency SCID are two of the most common types of SCID and can be treated by GT. As a challenge, both IL2RG and ADA genes are highly polymorphic and a gene–based diagnosis may be difficult if the variant is of unknown significance or if it is located in non-coding areas of the genes that are not routinely evaluated with exon-based genetic testing (e.g., introns, promoters, and the 5′and 3′ untranslated regions). Therefore, it is important to extend evaluation to non-coding areas of a SCID gene if the exon-based sequencing is inconclusive and there is strong suspicion that a variant in that gene is the cause for disease. Functional studies are often required in these cases to confirm a pathogenic variant. We present here two unique examples of X-linked SCID with variable immune phenotypes, where IL2R gamma chain expression was detected and no pathogenic variant was identified on initial genetic testing. Pathogenic IL2RG variants were subsequently confirmed by functional assay of gamma chain signaling and maternal X-inactivation studies. We propose that such tests can facilitate confirmation of suspected cases of X-linked SCID in newborns when initial genetic testing is inconclusive. Early identification of pathogenic IL2RG variants is especially important to ensure eligibility for gene therapy.
  • 12.

    【2hr】Severe Facial Herpes Vegetans and Viremia in NFKB2-Deficient Common Variable Immunodeficiency

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    机译 NFKB2缺乏常见变量免疫缺陷患者中的严重面部疱疹植物和病毒血症。
    摘要：With the accessibility of next-generation sequencing modalities, an increasing number of primary immunodeficiency disorders (PIDDs) such as common variable immunodeficiency (CVID) have gained improved understanding of molecular pathogenesis and disease phenotype with the identification of a genetic etiology. We report a patient with early-onset CVID due to an autosomal dominant loss-of-function mutation in NFKB2 who developed a severe herpes vegetans cutaneous infection as well as concurrent herpes simplex virus viremia. The case highlights features of CVID, unique aspects of NF-κB2 deficiency including susceptibility to herpesvirus infections, the detection of neutralizing anticytokine antibodies, and the complexity of medical management of patients with a PIDD that can be aided by a known genetic diagnosis.
  • 13.

    【2hr】Hawkinsinuria With Direct Hyperbilirubinemia in Egyptian-Lebanese Boy

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    机译 埃及-黎巴嫩男孩患有直接性高胆红素血症的霍金斯尿症
    摘要：Tyrosinemia type III is the rarest type of tyrosinemia, because of a mutation in 4-OH-phenylpyruvate dioxygenase (HPD). This causes two different types of diseases with different modes of inheritance: tyrosinemia type III and hawkinsinuria. Hawkinsinuria is an autosomal dominant disease, which presents a failure to thrive and metabolic acidosis; however, the liver is not affected. P.A33T heterozygous mutation was reported by Tomoeda et al. to cause hawkinsinuria. This case report will present the first case of an Egyptian-Lebanese male who developed direct hyperbilirubinemia and was found to have tyrosinemia type III, due to elevated tyrosine levels in the blood and tyrosine derivatives in the urine, but genetic testing revealed a P.A33T heterozygous mutation, a cause of hawkinsinuria.
  • 14.

    【2hr】Transient Arterial Hypertension Induced by Gonadotropin-Releasing Hormone Agonist Treatment for Central Precocious Puberty

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    机译 促性腺激素释放激素激动剂治疗中枢性性早熟引起的短暂性高血压
    摘要：Background: Gonadotropin-releasing hormone agonists (GnRHa) are a safe and effective treatment for precocious puberty. Triptorelin is one of the long lasting GnRHa, which reversibly suppresses the pituitary-gonadal axis. Triptorelin-induced hypertension (HTN) has rarely been reported in the literature.Clinical Case/Methods: We report a 10-year-old girl with central precocious puberty who, during treatment with triptorelin, developed an asymptomatic stage II HTN. Initial workup showed no renal, thyroid, or electrolytes abnormalities. The renal ultrasound showed no parenchymal disease and no increased renal resistance index suggestive of a renal artery stenosis. Echocardiography and ocular fundoscopy were normal. HTN (stage II) was confirmed with ambulatory blood pressure monitoring (ABPM). After extensive literature review, we found 3 other cases of HTN secondary to GnRHa, improving with endocrine treatment cessation. Therefore, antihypertensive treatment was not started immediately in our patient. Indeed, after completion of her treatment with triptorelin, we observed a complete normalization of her blood pressure (confirmed with ABPM) without any medication.Conclusion: Concomitantly to GnRHa treatment, our patient developed HTN, which completely subsided after stopping triptorelin. The complete normalization of her blood pressure, together with a negative workup for HTN strongly speaks for a causal effect of her endocrine treatment. In this setting, estrogen depletion might play a role, although this remains debated.
  • 15.

    【2hr】A Successful Whole Body Therapeutic Hypothermia for Hypoxic Ischemic Encephalopathy During an ECMO Run in a Newborn

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    机译 在新生儿ECMO跑步过程中成功治疗缺氧缺血性脑病的全身治疗性低温
    摘要：Data regarding the safety of using therapeutic hypothermia (TH) with extracorporeal membrane oxygenation (ECMO) in neonates with both hypoxic ischemic encephalopathy (HIE), and respiratory failure are lacking. TH is not associated with an increased incidence of hemostatic complications, but hypothermia may impair coagulation. Herein, we report a case of a newborn who had meconium aspiration syndrome and HIE and underwent both TH and ECMO. He did not have any bleeding or circuit complications, and mortality as short-term outcome along with well-neurodevelopmental outcome.
  • 16.

    【2hr】Treatment-Responsive Granulomatous-Lymphocytic Interstitial Lung Disease in a Pediatric Case of Common Variable Immunodeficiency

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    机译 小儿常见可变免疫功能低下的治疗反应性肉芽肿-淋巴细胞性间质性肺疾病
    摘要：Granulomatous-Lymphocytic Interstitial Lung disease (GLILD) is a granulomatous and lymphoproliferative condition occurring in ~25% of Common Variable Immunodeficiency (CVID) patients with the highest prevalence in the late teen to young adult years. GLILD was first described in adults and carries a poor prognosis with survival estimated to be reduced by half. Here we report a pediatric case of CVID-associated GLILD that presented with rapid deterioration over 3 months and responded to adult-based treatment with dual chemotherapeutic agents (rituximab and azathioprine), resulting in complete resolution of clinical findings and near complete resolution of radiologic findings. This case highlights the opportunity to achieve a favorable outcome in GLILD following appropriate diagnosis and therapy.
  • 17.

    【2hr】A Novel Mutation in Chronic Granulomatous Disease: Treating the Family, Not Just the Patient

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    机译 慢性肉芽肿病的新型突变：治疗家庭，而不仅仅是患者
    摘要：Chronic Granulomatous Disease (CGD) is caused by genetic defects in the phagocyte NADPH oxidase leading to potentially severe infections with catalase positive micro-organisms. With the innate immune system being affected this disease usually presents before the age of 5 years with infections involving the skin, lung, liver or lymphnodes. Infections with specific catalase positive organisms, especially Burkholderia cepacia, Serratia, Nocardia and Chromobacterium violaceum prompt a workup for CGD in affected patients. In addition, a family history of CGD also warrants testing. The pattern of inheritance of CGD varies across geographic regions of the world and societies, with X-linked inheritance being most prevalent in the United States and Europe. Affected patients require life-long therapy with prophylactic antibiotics, antifungals, and possibly interferon-gamma. Hematopoietic Stem Cell Transplantation is the only curative therapy known to date. Identification, diagnosis and management of patients with CGD usually involves a multi-specialty team including Pediatrics, Immunology, Infectious Diseases, Hematology/Oncology and often also Pulmonology and GI/Hepatology. Frequent follow up is paramount for good outcomes; infections have to be recognized and treated promptly and often preemptively. This is challenging for most patients and their families but presents a significant barrier for patients with limited access to care, limited resources or other challenging social situations. This case report describes the difficulties of managing a family with a novel mutation and multiple affected family members in different custody arrangements. It highlights the importance of close contact and communication with the family in deciding on management and treatment options. Educating the family and patient is critical to avoid complications of the disease and allow shared decision making that ultimately leads to better outcomes.
  • 18.

    【2hr】Congenital Mid Ureteric Valve Stenosis Revisited: Case Report and Review of the Literature

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    机译 先天性输尿管中段狭窄再诊：病例报告及文献复习
    摘要：Congenital mid ureteric valve (MUV) stenosis is a very rare entity. Definitive preoperative diagnosis is clinically challenging, and most patients are misdiagnosed preoperatively. Intraoperative identification is therefore very important. Curative treatment consists of excision of the involved ureteric segment and anastomosis. This report describes the clinical findings in a patient with congenital mid ureteric valve stenosis, including radiological and histological workup and operative management. Routine intraoperative retrograde pyelography is important in the diagnosis of such rare pathologies.
  • 19.

    【2hr】Massive Amniotic Fluid Aspiration in a Case of Sudden Neonatal Death With Severe Hypoplasia of the Retrotrapezoid/Parafacial Respiratory Group

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    机译 大规模羊水抽吸术导致新生儿猝死，后梯形/面部呼吸组严重低眼症
    摘要：We report a case of a baby, who, after pregnancy complicated by maternal Addison's disease and Hashimoto's thyroiditis and natural delivery, unexpectedly presented a cardiorespiratory collapse and died 1 hour after birth without responding to prolonged neonatal resuscitation maneuvers. The cause of death was reliably established by carrying out a forensic postmortem examination. More specifically, the histological examination of the lungs showed the presence of abundant endoalveolar and endobronchial cornea scales caused by absorption of amniotic fluid. The neuropathological examination of the brainstem highlighted severe hypodevelopment of the retrotrapezoid/parafacial respiratory group, which is a complex of neurons located in the caudal pons that is involved in respiratory rhythm coordination, especially expiration, in conditions of enhanced respiratory drive, as well as in chemoreception. This neuropathological finding shed new light on the mechanisms underlying the massive amniotic fluid aspiration which led to this early death.
  • 20.

    【2hr】Shoshin Beriberi and Severe Accidental Hypothermia as Causes of Heart Failure in a 6-Year-Old Child: A Case Report and Brief Review of Literature

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    机译 Shoshin Beriberi和严重的意外体温过低是6岁儿童心力衰竭的原因：一例病例并文献复习
    摘要：Severe accidental hypothermia has been demonstrated to affect ventricular systolic and diastolic functions, and rewarming might be responsible of cardiovascular collapse. Until now, there have been only a few reports on severe accidental hypothermia, none of which involved children. Herein, we describe here a rare case of heart failure in a 6-year-old boy admitted to the emergency unit owing to severe hypothermia and malnutrition. After he was warmed up (core temperature of 27.2°C at admission), he developed cardiac arrest, requiring vasoactive amines administration, and veno-arterial extracorporeal membrane oxygenation. Malnutrition and refeeding syndrome might have caused the thiamine deficiency, commonly known as beriberi, which contributed to heart failure as well. He showed remarkable improvement in heart failure symptoms after thiamine supplementation. High-dose supplementation per os (500 mg/day) after reconstitution of an adequate electrolyte balance enabled the patient to recover completely within 2 weeks, even if a mild diastolic cardiac dysfunction persisted longer. In conclusion, we describe an original pediatric case of heart failure due to overlap of severe accidental hypothermia with rewarming, malnutrition, and refeeding syndrome with thiamine deficiency, which are rare independent causes of cardiac dysfunction. The possibility of beriberi as a cause of heart failure and adequate thiamine supplementation should be considered in all high-risk patients, especially those with malnutrition. Refeeding syndrome requires careful management, including gradual electrolyte imbalance correction and administration of a thiamine loading dose to prevent or correct refeeding-induced thiamine deficiency.
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