Case Reports in Pediatrics最新文献_第8页

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

Case Reports in Pediatrics Pub Date : 2022-04-22 DOI: 10.1155/2022/3267189

J. Pelletier, Chad Ward, M. Borloz, Anne K Ickes, Susan Guelich, E. Edwards

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

Case Reports in Pediatrics Pub Date : 2022-04-21 DOI: 10.1155/2022/7519456

Kimberly Pereira, A. Inamdar, A. Zaveri, J. Teitelbaum, W. Shertz, K. Belitsis

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

Case Reports in Pediatrics Pub Date : 2022-04-15 DOI: 10.1155/2022/2191465

B. Pathak, Shriya Sharma, Aakriti Adhikari, Nabin Simkhada, Bhuwan Ghimire, N. Aryal

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

Case Reports in 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

{"title":"Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review","authors":"M. Comella, A. Collotta, V. Pavone, L. Ciccia, A. Bellinvia, C. Cerruto, M. Biondi, F. Pisani, P. Pavone","doi":"10.1155/2022/3793226","DOIUrl":"https://doi.org/10.1155/2022/3793226","url":null,"abstract":"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.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"63 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80324428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

Case Reports in 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

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

Case Reports in Pediatrics Pub Date : 2022-04-08 DOI: 10.1155/2022/8717818

Elisha E Peterson, Caylynn Yao, S. Sule, J. Finkel

{"title":"The Challenges of Identifying Fibromyalgia in Adolescents","authors":"Elisha E Peterson, Caylynn Yao, S. Sule, J. Finkel","doi":"10.1155/2022/8717818","DOIUrl":"https://doi.org/10.1155/2022/8717818","url":null,"abstract":"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.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"180 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77342795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

Case Reports in Pediatrics Pub Date : 2022-03-29 DOI: 10.1155/2022/8984170

Jeanna Auriemma

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

Case Reports in Pediatrics Pub Date : 2022-03-29 DOI: 10.1155/2022/1712651

Ashwag Asiri, Faris Alzahrani, S. Alshehri, Yossef Hassan AbdelQadir

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

Case Reports in Pediatrics Pub Date : 2022-03-27 DOI: 10.1155/2022/9027255

J. Jortveit, A. Früh, H. Odland

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

Case Reports in Pediatrics Pub Date : 2022-03-25 DOI: 10.1155/2022/4732287

M. Faridi, S. Pandey, S. Shamsi

{"title":"Pott's Puffy Tumor Presenting as Pyogenic Meningitis in an Infant","authors":"M. Faridi, S. Pandey, S. Shamsi","doi":"10.1155/2022/4732287","DOIUrl":"https://doi.org/10.1155/2022/4732287","url":null,"abstract":"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.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"19 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73466280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1