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A Case of Childhood Severe Paroxysmal Cold Hemoglobinuria with Acute Renal Failure Successfully Treated with Plasma Exchange and Eculizumab 血浆置换联合埃曲利单抗治疗儿童重症阵发性寒性血红蛋白尿合并急性肾功能衰竭1例
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-04-22 DOI: 10.1155/2022/3267189
J. Pelletier, Chad Ward, M. Borloz, Anne K Ickes, Susan Guelich, E. Edwards
We describe the case of a 4-year-old female who presented with sepsis and disseminated intravascular coagulation (DIC), developed ongoing intravascular hemolysis with acute renal failure from suspected pigment-induced acute tubular necrosis necessitating continuous renal replacement therapy (CRRT) for five days followed by four episodes of intermittent hemodialysis (iHD), and was subsequently diagnosed with paroxysmal cold hemoglobinuria (PCH). She was successfully treated with plasma exchange and eculizumab, a humanized monoclonal antibody targeting complement protein C5, and demonstrated significant improvement of hemolysis and recovery of renal function.
我们描述了一名4岁的女性,她表现为败血症和弥散性血管内凝血(DIC),由于怀疑色素引起的急性小管坏死而出现持续的血管内溶血并急性肾衰竭,需要持续肾脏替代治疗(CRRT) 5天,随后进行了4次间歇性血液透析(iHD),随后被诊断为阵发性冷性血红蛋白尿(PCH)。她成功接受血浆置换和eculizumab治疗,eculizumab是一种针对补体蛋白C5的人源化单克隆抗体,她的溶血情况明显改善,肾功能恢复。
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引用次数: 3
A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa) 易位相关性血管周围上皮样细胞瘤1例
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-04-21 DOI: 10.1155/2022/7519456
Kimberly Pereira, A. Inamdar, A. Zaveri, J. Teitelbaum, W. Shertz, K. Belitsis
A perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm composed of perivascular epithelioid cells with distinctive histologic, immunohistochemical, and genetic features. PEComas arising from various anatomical sites have been reported, but gastrointestinal PEComas are extremely rare entities. Here, we discuss the clinical and pathological features of a gastrointestinal PEComa with a transcription factor E3 (TFE3) translocation in a 17-year old adolescent male with a clinical presentation of abdominal pain and gastrointestinal bleeding. Our case report provides insight into this rare entity as well as discusses the pathophysiological aspects of TFE3-SFPQ-associated GI PEComas and their management.
血管周围上皮样细胞瘤(PEComa)是一种罕见的间充质肿瘤,由血管周围上皮样细胞组成,具有独特的组织学、免疫组织化学和遗传特征。PEComas起源于不同的解剖部位,但胃肠道PEComas是非常罕见的实体。在这里,我们讨论了一个17岁的青春期男性胃肠道PEComa与转录因子E3 (TFE3)易位的临床和病理特征,临床表现为腹痛和胃肠道出血。我们的病例报告提供了对这种罕见实体的深入了解,并讨论了tfe3 - sfpq相关的GI PEComas的病理生理方面及其处理。
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引用次数: 0
Sturge–Weber Syndrome with Bilateral Port-Wine Stain 伴有双侧Port-Wine染色的Sturge-Weber综合征
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-04-15 DOI: 10.1155/2022/2191465
B. Pathak, Shriya Sharma, Aakriti Adhikari, Nabin Simkhada, Bhuwan Ghimire, N. Aryal
Sturge–Weber syndrome is a rare congenital neurocutaneous disorder characterized by dermatological, ophthalmological, and neurological manifestations. It occurs due to abnormal persistence of embryonic vascular plexus. Here, we describe a case of four years seven months female with seizures, developmental delay, intellectual disability, and bilateral port-wine stain diagnosed as type I (classical) Sturge–Weber syndrome. The ophthalmological evaluation was unremarkable. Electroencephalogram showed abnormalities suggestive of a structural lesion in the right cerebral hemisphere. CT scan of the head revealed volume loss of right brain parenchyma with linear, cortical, as well as subcortical calcifications more evident in the right hemisphere. The child should be followed up regularly until adulthood for ophthalmological evaluation, recurrence of seizures, and other manifestations of this disorder.
斯特奇-韦伯综合征是一种罕见的先天性神经皮肤疾病,以皮肤病学、眼科和神经学表现为特征。它是由于胚胎血管丛的异常持续而发生的。在这里,我们描述了一个4岁7个月的女性,癫痫发作,发育迟缓,智力残疾,双侧葡萄酒色斑诊断为I型(经典)斯特奇-韦伯综合征。眼科检查结果无显著差异。脑电图显示异常提示右脑半球结构性病变。头部CT扫描显示右脑实质体积减少,右半球线状、皮质及皮质下钙化更为明显。儿童应定期随访,直至成年,以进行眼科评估、癫痫复发和其他疾病表现。
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引用次数: 2
Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review 男孩伴发MPZ和MFN2基因变异与夏可氏乳牙病:临床和遗传分析-文献综述
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-04-11 DOI: 10.1155/2022/3793226
M. Comella, A. Collotta, V. Pavone, L. Ciccia, A. Bellinvia, C. Cerruto, M. Biondi, F. Pisani, P. Pavone
Charcot- Marie- Tooth (CMT) disease includes a group of clinically and genetically heterogeneous neuropathic disorders with an estimated frequency of 1 on 2.500 individuals. CMTs are differently classified according to the age of onset, type of inheritance, and type of inheritance plus clinical features. For these disorders, more than 100 genes have been implicated as causal factors, with mutations in the PMP22 being one of the most common. The demyelinating type (CMT1) affects more than 30% of the CMTs patients and manifests with motor and sensory dysfunctions of the peripheral nervous system mainly starting with slow progressive weakness of the lower extremities. We report here a 12 year- old boy presenting with typical features of CMT1 type, hearing impairment, and inguinal hernia who at the next-generation sequence analysis displayed a concomitant presence of two variants: the c.233 C>T p.Ser 78Leu of the MPZ gene (NM_000530.6) characterized as pathogenetic and the c.1403 G>A p.Arg 468His of the MFN2 gene (NM_014874.3) characterized as VUS. Concomitant variant mutations in CMTs have been uncommonly reported. The role of these gene mutations on the clinical expression and a literature review on this topic is discussed.
Charcot- Marie- Tooth (CMT)病包括一组临床和遗传异质性的神经性疾病,估计频率为2500人中有1人。根据发病年龄、遗传类型、遗传类型加临床特征对cmt有不同的分类。对于这些疾病,超过100个基因被认为是致病因素,其中PMP22突变是最常见的突变之一。脱髓鞘型(CMT1)影响超过30%的cmtts患者,表现为周围神经系统的运动和感觉功能障碍,主要从下肢缓慢进行性无力开始。我们在此报告一名12岁的男孩,表现为CMT1型、听力障碍和腹股沟疝的典型特征,他在下一代序列分析中显示出两种变体的同时存在:c.233MPZ基因(NM_000530.6)的C>T p.Ser 78Leu具有致病性,C .1403G>A p.Arg 468His的MFN2基因(NM_014874.3)表征为VUS。cmt中伴随的变异突变很少被报道。本文讨论了这些基因突变在临床表达中的作用,并对这一主题进行了文献综述。
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引用次数: 2
Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene 由HJV基因纯合变异引起的少年血色素沉着病
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-04-11 DOI: 10.1155/2022/7743748
M. Moreno-Risco, M. Méndez, María-Isabel Moreno-Carralero, A. Lopez-Moreno, José-Manuel Vagace-Valero, M. Morán-Jiménez
Hemochromatosis type 2 or juvenile hemochromatosis has an early onset of severe iron overload resulting in organ manifestation such as liver fibrosis, cirrhosis, cardiomyopathy, arthropathy, hypogonadism, diabetes, osteopathic medicine, and thyroid abnormality, before age of 30. Juvenile hemochromatosis type 2a and 2b is an autosomal recessive disease caused by pathogenic variants in HJV and HAMP genes, respectively. We report a child with hepatic iron overload and family history of hemochromatosis. We aim to raise awareness of juvenile hemochromatosis, especially in families with a positive family history, as early diagnosis and treatment may prevent organ involvement and end-stage disease. The purpose of this study was to identify the gene variant that causes the disease. The genetic study was performed with a targeted gene panel: HFE, HJV, HAMP, TFR2, SLC40A1, FTL, and FTH1. We identified the variant c.309C > G (p.Phe103Leu) in the HJV gene in the homozygous state in the patient.
2型血色素沉着症或少年型血色素沉着症早发严重铁超载,导致器官表现,如肝纤维化、肝硬化、心肌病、关节病、性腺功能减退、糖尿病、骨科药物和甲状腺异常,年龄在30岁之前。2a型和2b型儿童血色素沉着症是一种常染色体隐性遗传病,分别由HJV和HAMP基因的致病变异引起。我们报告一个患有肝铁超载和血色素沉着症家族史的儿童。我们的目标是提高对青少年血色素沉着病的认识,特别是在有阳性家族史的家庭中,因为早期诊断和治疗可以预防器官受累和终末期疾病。这项研究的目的是确定导致这种疾病的基因变异。遗传学研究采用靶向基因组进行:HFE、HJV、HAMP、TFR2、SLC40A1、FTL和FTH1。我们在患者中发现了纯合子状态的HJV基因c.309C > G (p.p hi103leu)变异。
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引用次数: 0
The Challenges of Identifying Fibromyalgia in Adolescents 鉴别青少年纤维肌痛的挑战
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-04-08 DOI: 10.1155/2022/8717818
Elisha E Peterson, Caylynn Yao, S. Sule, J. Finkel
Aim Fibromyalgia (FM) is a noninflammatory disorder of the nervous system characterized by widespread musculoskeletal pain and somatic complaints of at least 3 months duration. There are no current diagnostic criteria for fibromyalgia in children to guide clinicians in recognition, thus leading to many subspecialty referrals and extensive imaging and tests. The purpose of this retrospective review is to compare two diagnostic criteria for juvenile fibromyalgia. Methods A retrospective chart review of 20 children diagnosed with juvenile fibromyalgia from a singular pain physician practice was performed. Both the Yunus diagnostic criteria and the 2016 American College of Rheumatology (ACR) diagnostic criteria were applied and compared. Results 85% of patients met criteria for fibromyalgia under both criteria. 15% of patients met only ACR criteria as the Yunus criteria excluded those with underlying conditions. Of the children who fulfilled criteria with use of both diagnostic tools, this cohort reported a high somatic symptom burden as demonstrated by the ACR symptom severity scales of 12 and satisfaction of at least 4 Yunus and Masi minor criteria on average. Widespread pain was noted with an ACR Widespread Pain Index (WPI) of 7, and tender points were 4.8 on average across the cohort. Effective therapeutic regimens among patients varied widely from medical monotherapy to multimodal treatment. Patients presented with pain for 1.8 yrs on average prior to a diagnosis. All of the cohort had a normal laboratory evaluation; half the cohort received additional imaging and testing. Conclusion This case series suggests the need for an updated diagnostic tool for pediatric fibromyalgia to facilitate recognition and treatment.
目的纤维肌痛(FM)是一种非炎症性神经系统疾病,以广泛的肌肉骨骼疼痛和躯体症状为特征,持续时间至少3个月。目前尚无儿童纤维肌痛的诊断标准来指导临床医生识别,因此导致许多亚专科转诊和广泛的影像学和检查。本回顾性综述的目的是比较两种诊断标准的青少年纤维肌痛。方法回顾性分析某疼痛专科医师诊断的20例青少年纤维肌痛患儿的临床资料。应用Yunus诊断标准与2016年美国风湿病学会(American College of Rheumatology, ACR)诊断标准进行比较。结果85%的患者在两种诊断标准下均符合纤维肌痛的诊断标准。15%的患者只符合ACR标准,因为尤努斯标准排除了那些有潜在疾病的患者。在使用两种诊断工具均满足标准的儿童中,该队列报告了较高的躯体症状负担,ACR症状严重程度量表为12,平均至少满足4个尤努斯和马西次要标准。广泛疼痛的ACR广泛疼痛指数(WPI)为7,整个队列的压痛点平均为4.8。从单一药物治疗到多模式治疗,患者的有效治疗方案差异很大。患者在确诊前的平均疼痛时间为1.8年。所有队列均有正常的实验室评估;一半的队列接受了额外的成像和测试。结论:本病例提示需要更新儿童纤维肌痛的诊断工具,以促进识别和治疗。
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引用次数: 1
A “Boil” Being the Clue to Think beyond Typical Bacterial Pathogens in Community-Acquired Pneumonia 在社区获得性肺炎中,“煮沸”是超越典型细菌病原体思考的线索
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-03-29 DOI: 10.1155/2022/8984170
Jeanna Auriemma
Empyema necessitans is an exceptionally rare complication of bacterial pneumonia in the pediatric population. It occurs when the infection extends from the lung parenchyma to the chest wall by forming a fistula, which leads to infection of the surrounding soft tissue. In this case, a 13-year-old boy is found to have empyema necessitans caused by Actinomyces meyeri, with a preceding clue to the diagnosis being that he was treated for a superficial chest wall abscess several weeks prior to developing significant respiratory symptoms. Providers should be aware of this entity as it requires obtaining cultures to identify the appropriate pathogen and avoid treatment failure as it has implications for antibiotic choice and length of therapy.
必要脓胸是一种罕见的并发症细菌性肺炎在儿科人群。当感染通过形成瘘管从肺实质扩展到胸壁,导致周围软组织感染时,就会发生这种情况。在本病例中,一名13岁男孩被发现患有由放线菌引起的必要性脓胸,先前的诊断线索是他在出现明显呼吸道症状前几周因浅表性胸壁脓肿接受治疗。提供者应该意识到这个实体,因为它需要获得培养物来识别适当的病原体,并避免治疗失败,因为它对抗生素的选择和治疗的长度有影响。
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引用次数: 0
New-Onset Henoch–Schonlein Purpura after COVID-19 Infection: A Case Report and Review of the Literature COVID-19感染后新发过敏性紫癜1例报告及文献复习
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-03-29 DOI: 10.1155/2022/1712651
Ashwag Asiri, Faris Alzahrani, S. Alshehri, Yossef Hassan AbdelQadir
Extrapulmonary manifestations of COVID-19 infection include a wide spectrum of cutaneous, endocrine, and cardiovascular complications. We report three cases of new-onset Henoch–Schonlein purpura (HSP) in COVID-19 infected children that were diagnosed and treated in Abha Maternity and Children Hospital, Saudi Arabia, between 28th July 2020 and 10th August 2020. All three cases were males younger than 5 years of age that presented with Henoch–Schonlein purpura characteristic rash and arthralgia without a recent history of any infection, especially respiratory infections. They all tested positive for COVID-19. At the time of the admission, pediatric COVID-19 cases were managed conservatively and we ruled out any other diagnosis before establishing the diagnosis of Henoch–Schonlein purpura according to the clinical picture. The three boys responded significantly to prednisolone and achieved a rapid recovery. We present the clinical scenario and laboratory tests of these children along with pictures of the lesions detected in each case.
COVID-19感染的肺外表现包括广泛的皮肤、内分泌和心血管并发症。我们报告2020年7月28日至2020年8月10日期间在沙特阿拉伯Abha妇幼医院诊断和治疗的3例新发过敏性紫癜(HSP)感染儿童。所有3例均为5岁以下男性,表现为过敏性紫癜、特征性皮疹和关节痛,近期无任何感染史,特别是呼吸道感染。他们的COVID-19检测结果均呈阳性。入院时,我们对儿童COVID-19病例进行保守处理,并根据临床情况排除任何其他诊断,然后确定过敏性紫癜的诊断。这三名男孩对强的松龙反应明显,恢复迅速。我们提出这些儿童的临床情况和实验室测试以及在每个病例中检测到的病变的图片。
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引用次数: 4
Paroxysmal Tachycardia Diagnosed by ECG247 Smart Heart Sensor in a Previously Healthy Child ECG247智能心脏传感器诊断既往健康儿童阵发性心动过速
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-03-27 DOI: 10.1155/2022/9027255
J. Jortveit, A. Früh, H. Odland
Supraventricular tachycardia (SVT) is the most common symptomatic heart rhythm disorder in children and adolescents. ECG recordings of the heart rhythm during episodes is necessary for the diagnosis and for the selection of treatment. However, conventional long-term ECG recording systems may miss the diagnosis due to the disease's intermittent nature. Novel adhesive patch ECG monitors, like ECG247 Smart Heart Sensor, may represent new important diagnostic tools in children and adolescents with symptoms of heart rhythm disorders. We report a case of tachyarrhythmia in a previously healthy 12-year-old child.
室上性心动过速(SVT)是儿童和青少年中最常见的症状性心律障碍。心电记录的心律发作期间是必要的诊断和治疗的选择。然而,由于疾病的间歇性,传统的长期心电图记录系统可能会错过诊断。新型贴片心电图监护仪,如ECG247智能心脏传感器,可能为有心律失常症状的儿童和青少年提供新的重要诊断工具。我们报告一例心动过速在一个以前健康的12岁儿童。
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引用次数: 1
Pott's Puffy Tumor Presenting as Pyogenic Meningitis in an Infant 婴儿波特氏肿块表现为化脓性脑膜炎
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-03-25 DOI: 10.1155/2022/4732287
M. Faridi, S. Pandey, S. Shamsi
Introduction. Pott's puffy tumor is characterized by the osteomyelitis of the frontal bone with underlying subperiosteal abscess, mostly occurring secondary to recurrent sinusitis or head trauma. Though it is a rare clinical entity in this antibiotic era, its occurrence mostly in the adolescent age group has now shown increased reporting lately in all age groups. Case Description. We describe here a case of a 4½-month-old female baby who presented to our hospital's Emergency Room with clinical features of pyogenic meningitis following aspiration of a midline frontal swelling. The infant presented with high-grade fever, 3-4 episodes of projectile vomiting, increased irritability, and refusal to breastfeeding than usual. This was accompanied by a history of a gradually increasing midline fluctuant erythematous swelling on her forehead extending to the left eye. Aspiration of the swelling was done a day before by a local general practitioner, following which she developed the above-mentioned features of pyogenic meningitis and was brought to the hospital the next day. Examination revealed a conscious, febrile, irritable child with bulging anterior fontanel and 101.4°F axillary temperature. Vital signs were within normal limits. CSF analysis was suggestive of pyogenic meningitis, and appropriate antibiotics were given. MRI showed frontal bone osteomyelitis with erosion of the bony plate and focal cerebritis. The condition turned out to be Pott's puffy tumor with pyogenic meningitis after detailed investigations. The infant was treated with appropriate antibiotics and other supportive therapeutic measures and discharged with the advice for further management in collaboration with otorhinolaryngologist.
介绍。Pott的肿性肿瘤以额骨骨髓炎为特征,伴有骨膜下脓肿,主要继发于复发性鼻窦炎或头部创伤。虽然这是一个罕见的临床实体在这个抗生素时代,它的发生主要是在青少年年龄组,现在显示增加报告最近在所有年龄组。案例描述。我们在此报告一例4个半月大的女婴,因额叶中线肿胀后的吸入性化脓性脑膜炎而来到我院急诊室。婴儿表现为高热,3-4次抛射性呕吐,易怒增加,拒绝母乳喂养。伴有前额中线波动性红斑肿胀逐渐增加,并延伸至左眼。前一天,当地一名全科医生对肿胀处进行了抽吸,随后她出现了上述化脓性脑膜炎的特征,并于第二天被送往医院。检查发现患儿意识清醒,发热,易激,前囟门膨出,腋窝温度101.4°F。生命体征在正常范围内。脑脊液分析提示化脓性脑膜炎,并给予适当的抗生素。MRI显示额骨骨髓炎伴骨板侵蚀和局灶性脑炎。经过详细的检查,病情被证实是波特的肿胀肿瘤并化脓性脑膜炎。患儿给予适当的抗生素和其他支持性治疗措施,出院后与耳鼻喉科医生合作进行进一步治疗。
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引用次数: 1
期刊
Case Reports in Pediatrics
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