Case Reports in Pediatrics最新文献_第9页

Elective Cesarean Section during Preterm Prevents Pulmonary Hypoplasia Development in Potter Sequence. 早产儿择期剖宫产可预防波特序列肺发育不全。

IF 0.9

Case Reports in Pediatrics Pub Date : 2023-01-01 DOI: 10.1155/2023/3216232

Yuya Kinoshita, Rieko Sakamoto, Yusuke Hattori, Keishiro Furuie, Shohei Kuraoka, Yuko Hidaka, Hiroshi Tamura, Hiroshi Mitsubuchi, Kimitoshi Nakamura

{"title":"Elective Cesarean Section during Preterm Prevents Pulmonary Hypoplasia Development in Potter Sequence.","authors":"Yuya Kinoshita, Rieko Sakamoto, Yusuke Hattori, Keishiro Furuie, Shohei Kuraoka, Yuko Hidaka, Hiroshi Tamura, Hiroshi Mitsubuchi, Kimitoshi Nakamura","doi":"10.1155/2023/3216232","DOIUrl":"https://doi.org/10.1155/2023/3216232","url":null,"abstract":"Potter syndrome, first reported in 1946 by Edith Potter, refers to fatal cases of bilateral renal aplasia with pulmonary hypoplasia, peculiar facial features, and limb deformities. Presently, patients with oligohydramnios showing similar pathological manifestations due to oligohydramnios caused by conditions other than bilateral renal aplasia have been reported, and are known as the Potter sequence. There are limited studies and unclear guidelines on the safest delivery time and detailed postpartum management for patients with the Potter sequence. We experienced a case of Potter sequence, in which the patient was born by elective cesarean section at gestational age (GA) of 34 weeks. Fetal ultrasound at GA of 26 weeks 4 days showed oligohydramnios, multilocular cystic lesions in the left kidney, and an absent right kidney. Prenatal fetal MRI at GA of 33 weeks and 3 days showed pulmonary hypoplasia, and the ratio of fetal lung volume (FLV) to fetal body weight (FBW) was 0.0135 ml/g. We suspected that the fetal lung could not grow because of persistent oligohydramnios, which leads to a further decline in the ratio of FLV to FBW during pregnancy. We performed a cesarean section at GA of 34 weeks to prevent the exacerbation of the imbalance between lung volume and physique. We struggled to keep her condition stabilized with strict management of her respiratory condition, dialysis, and nutrition. She was discharged from the hospital at 169 days of age. Elective caesarean section in the term of premature birth prevented the progression of pulmonary hypoplasia and made it possible to save her life. Potter sequence is still relatively unknown, and it is necessary for more studies to be conducted in the future.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"3216232"},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9904929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10688106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Intussusception in a 4-Year-Old Male Due to Burkitt Lymphoma. 4岁男性伯基特淋巴瘤致肠套叠1例。

IF 0.9

Case Reports in Pediatrics Pub Date : 2023-01-01 DOI: 10.1155/2023/3535164

Raed Al-Taher, Abdallah Alabadla, Salameh Al-Halaseh, Ghasaq Saleh

{"title":"Intussusception in a 4-Year-Old Male Due to Burkitt Lymphoma.","authors":"Raed Al-Taher, Abdallah Alabadla, Salameh Al-Halaseh, Ghasaq Saleh","doi":"10.1155/2023/3535164","DOIUrl":"https://doi.org/10.1155/2023/3535164","url":null,"abstract":"Intussusception is the invagination of a proximal bowel segment into a distal segment causing bowel obstruction, especially in children. In some cases, it can be caused by a pathological lead point, such as Burkitt lymphoma. Burkitt lymphoma has several patterns of clinical presentations, such as jaw or facial bone tumor in the endemic form, in contrast to an abdominal presentation most often with massive disease and ascites. We describe a case of a 4-year-old male who presented bowel obstruction. Using X-ray and ultrasound findings, ileocecal intussusception was then diagnosed. Resection and anastomosis was performed after multiple trials of failed hydrostatic reduction. On the pathology report of the resected segment, Burkitt lymphoma was found to be the cause and chemotherapy was initiated. The patient is doing well and is following up every 6 months for 2 years. A pathological lead point, especially Burkitt lymphoma, should be suspected in patients with failed conservative treatment, and prompt diagnosis of the pathology should be performed to prevent further sequela of the disease.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"3535164"},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10070031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9612119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Granulomatosis with Polyangiitis Misdiagnosed as IgA Vasculitis in a Child. 儿童肉芽肿合并多血管炎误诊为IgA血管炎1例。

IF 0.9

Case Reports in Pediatrics Pub Date : 2023-01-01 DOI: 10.1155/2023/9950855

Sheida Amini, Mohsen Jari

引用次数: 0

Kawasaki Disease: Unusual Presentation with Retropharyngeal Involvement. 川崎病:有咽后受累的不寻常表现。

IF 0.9

Case Reports in Pediatrics Pub Date : 2023-01-01 DOI: 10.1155/2023/4913700

Chiara Zeroli, Armela Gorica, Giulia Claire D'Aleo Canova, Monica Caruso, Paolo Castelnuovo, Francesca De Bernardi

{"title":"Kawasaki Disease: Unusual Presentation with Retropharyngeal Involvement.","authors":"Chiara Zeroli, Armela Gorica, Giulia Claire D'Aleo Canova, Monica Caruso, Paolo Castelnuovo, Francesca De Bernardi","doi":"10.1155/2023/4913700","DOIUrl":"https://doi.org/10.1155/2023/4913700","url":null,"abstract":"Background: Kawasaki disease is an acute febrile generalized vasculitic syndrome of childhood of unknown ethology. The most severe complication may involve the hearth and include acute myocarditis with hearth failure, arrythmia, and coronary artery aneurism. The typical clinical symptoms are fever, conjunctivitis, rash, cervical lymphadenopathy, and mucocutaneous changes, and the diagnosis is made by the clinical criteria. Early use of aspirin and immunoglobuline improves symptoms and prevent heart complications. Case Presentation. A 4-year-old male presented to our attention for multiple unilateral laterocervical lymphadenopathies, odynophagia, and neck stiffness, initially treated with IV antibiotic therapy with partial resolution of symptoms. After four months he made a new ER access for cervicalgia, tonsils asymmetry, trismus, stiff neck, lameness, and phalanx hyperaemia and increase in the size of cervical lymph nodes. Radiology showed increase of lymphnodes dimension and retropharyngeal space asymmetry. The same day heart murmur appeared, so the patient underwent cardiological evaluation that documented dilation of the coronary arteries. This sign made it possible to place the diagnostic suspicion of Kawasaki disease and to start IV immunoglobulins and acetylsalicylic acid administration with prompt response.Conclusions: Kawasaki disease presents with a range of symptoms which, taken individually, are very common in childhood. One of these symptoms is represented by the swollen of neck lymph nodes. It is only clinical reasoning that leads to the correct diagnosis, and therefore, to the correct setting of the therapy, reducing the risk of complications.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"4913700"},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9402659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Coronavirus Disease 2019 (COVID-19) Associated Hemolytic Uremic Syndrome in a Toddler. 幼儿冠状病毒病2019 (COVID-19)相关溶血性尿毒症综合征

IF 0.9

Case Reports in Pediatrics Pub Date : 2022-11-23 eCollection Date: 2022-01-01 DOI: 10.1155/2022/3811170

Kristie Searcy, Apoorva Jagadish, Patricia Pichilingue-Reto, Radhakrishna Baliga

引用次数: 1

Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient. 沙特患者近道富型脊椎骺发育不良(SEDKF) MBTPS1基因新变异的鉴定

IF 0.9

Case Reports in Pediatrics Pub Date : 2022-10-25 eCollection Date: 2022-01-01 DOI: 10.1155/2022/5498109

Maha Alotaibi, Ali Aldossari, Imran Khan, Leena Alotaibi

{"title":"Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient.","authors":"Maha Alotaibi, Ali Aldossari, Imran Khan, Leena Alotaibi","doi":"10.1155/2022/5498109","DOIUrl":"https://doi.org/10.1155/2022/5498109","url":null,"abstract":"Spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia associated with kyphosis and low bone mineral density, significantly delayed growth, and skeletal deformities. Blood lysosomal enzyme levels have also been shown to be elevated with a delay in development. The first variant described was compound heterozygosity for mutations in the MBTPS1 gene: a 1-bp duplication and a missense mutation. In the current study, we examined a Saudi consanguineous family. Clinical features like spondyloepiphyseal dysplasia, indicative of characteristic skeletal abnormalities, and impaired cognitive abilities were observed. Our patient has dysmorphic facial features, short stature, and significant skeletal deformities. A homozygous missense MBTPS1 (c.2634C > A p. (Ser878Arg)) with unknown significance was discovered in the whole exome; pathogenic MBTPS1 variants cause the autosomal recessive Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF, OMIM®: 618392). The whole exome sequence, which described a homozygous missense variant of unknown clinical significance (VUS, class 3 variant) in the MBTPS1 gene, was heterozygous in both asymptomatic parents. We are mindful that changing the classification of a variant of unknown significance is challenging. Considering clinical phenotypes and radiological findings produced by the pathogenic mutation in the MBTPS1 gene, the identified c.2634C > A variant is supported and may be categorized as likely pathogenic based on clinical symptoms.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"5498109"},"PeriodicalIF":0.9,"publicationDate":"2022-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40664496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Intrauterine Limb Ischemia in Patient Heterozygous for the 677C>T) RS1801133 (Polymorphism of Methylenetetrahydrofolate Reductase MTHR Gene. 亚甲基四氢叶酸还原酶MTHR基因杂合子677C>T RS1801133

IF 0.9

Case Reports in Pediatrics Pub Date : 2022-10-21 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2701548

Ahmad Al Hammouri, Rami A Misk, Hamza Abumunshar, Fawzy M Abunejma, Tasnim S Idrees, Mahmoud Abu Arqoub, Deiaa Malhis, Abdullah Shroof, Tareq Z Alzughayyar

{"title":"Intrauterine Limb Ischemia in Patient Heterozygous for the 677C>T) RS1801133 (Polymorphism of Methylenetetrahydrofolate Reductase MTHR Gene.","authors":"Ahmad Al Hammouri, Rami A Misk, Hamza Abumunshar, Fawzy M Abunejma, Tasnim S Idrees, Mahmoud Abu Arqoub, Deiaa Malhis, Abdullah Shroof, Tareq Z Alzughayyar","doi":"10.1155/2022/2701548","DOIUrl":"https://doi.org/10.1155/2022/2701548","url":null,"abstract":"Background: Intrauterine arterial thrombosis is extremely rare. Multiple inherited coagulopathies were found to be associated with thrombophilia and an increased risk of intrauterine arterial thrombosis. Methylenetetrahydrofolate reductase MTHFR (C667T) polymorphism was found to be associated with mild hyper-homocysteinemia, which, in turn, can promote thrombotic complications.Materials and methods: We reported a case of intrauterine upper limb ischemia in a neonate who was found to be heterozygous for the 677C > T polymorphism of the MTHFR gene despite the dispute regarding its clinical significance as a risk of arterial thrombosis. We also reviewed the literature and summarized the clinical features, treatment, and prognosis of similar cases. Case Presentation. We reported a full-term female, born by normal spontaneous vaginal delivery who was found to have a swollen, blue left upper limb in the delivery room. Left upper limb computed tomography angiography (CTA) revealed left subclavian artery thrombosis. Investigations for the risk revealed heterozygosity for the MTHFR (C667T) polymorphism. Left upper limb amputation was done after the failure of medical management.Conclusion: Despite the conflict about whether heterozygosity for MTHFR (C667T) polymorphism increases the risk of arterial thrombosis or not, there are few cases in the literature presented with intrauterine upper limb ischemia and were found to be heterozygous for the mutation. We recommend investigating neonates and their parents for complete thrombophilia mutations when they present with unusual vascular occlusion sites as newborns.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"2701548"},"PeriodicalIF":0.9,"publicationDate":"2022-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9616673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40439087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Minocycline-Induced Gum Pigmentation during Treatment for Acne Vulgaris. 二甲胺四环素治疗寻常性痤疮期间引起的牙龈色素沉着。

IF 0.9

Case Reports in Pediatrics Pub Date : 2022-10-14 eCollection Date: 2022-01-01 DOI: 10.1155/2022/9493061

Jami Wang, Isabella Brown, Heidi Goodarzi

引用次数: 1

Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis. 胎儿发育不良2例误诊报告。

IF 0.9

Case Reports in Pediatrics Pub Date : 2022-09-28 eCollection Date: 2022-01-01 DOI: 10.1155/2022/3056324

Lamidi Audu, Amina Gambo, Tokan Silas Baduku, Bilkisu Farouk, Anisa Yahaya, Kefas Jacob

{"title":"Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis.","authors":"Lamidi Audu, Amina Gambo, Tokan Silas Baduku, Bilkisu Farouk, Anisa Yahaya, Kefas Jacob","doi":"10.1155/2022/3056324","DOIUrl":"https://doi.org/10.1155/2022/3056324","url":null,"abstract":"Thanatophoric dysplasia (TD) is a rare but uniformly lethal inherited disorder of the skeletal system resulting from defects in the fibroblast growth factor receptor-3 gene on the short arm of chromosome ##4. It is characterised by pronounced shortening of the tubular bones resulting in significant short stature, macrocephaly, a funnel-shaped chest, protuberant abdomen, redundant skin in the limbs, and typical facies among others. The two clinical types of TD are differentiated by typical cranial and tubular bone configurations. Antenatal diagnosis is usually made in the last trimester and corroborated at birth. We present 2 cases of TD seen at Barau Dikko Teaching Hospital (BDTH) between January and August 2021 to highlight the potential difficulty with antenatal diagnosis, its diagnostic features, and associated early postnatal fatality. The antenatal diagnosis was missed in both cases in spite of repeated 2nd and 3rd-trimester sonographic examinations. Both babies presented with remarkable micromelic short stature with the telephone-handle appearance of the femoral bones characteristic of type 1 TD, developed progressive respiratory distress at birth, and died within 36 hours of life despite respiratory support with Bubble CPAP. These cases are discussed along with a review of existing relevant literature.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"3056324"},"PeriodicalIF":0.9,"publicationDate":"2022-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9534681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33498189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

COVID-19 Symptomatic Newborns with Possible Postpartum Transmission of SARS-CoV-2. 有COVID-19症状的新生儿可能产后传播SARS-CoV-2

IF 0.9

Case Reports in Pediatrics Pub Date : 2022-09-27 eCollection Date: 2022-01-01 DOI: 10.1155/2022/7394175

Mohammad Hosein Ataee Nakhaei, Sahar Safapour Moghadam, Saeedeh Yaghoubi

{"title":"COVID-19 Symptomatic Newborns with Possible Postpartum Transmission of SARS-CoV-2.","authors":"Mohammad Hosein Ataee Nakhaei, Sahar Safapour Moghadam, Saeedeh Yaghoubi","doi":"10.1155/2022/7394175","DOIUrl":"https://doi.org/10.1155/2022/7394175","url":null,"abstract":"Coronavirus disease 2019 (COVID-19) infection, which was initially reported in Wuhan, China, in December 2019, had a rapid spread throughout the world becoming a new global crisis. Today, very little is known about neonatal COVID-19 infection. Herein, we tried to define the clinical and demographic characteristics, risk factors, and laboratory and imagining findings of neonates who tested positive for COVID-19 and were admitted to the NICU (neonatal intensive care unit) of Ali Ibn Abi Taleb Hospital, Zahedan, Iran, from June 2021 to July 2021. All full-term and premature neonates diagnosed with COVID-19 were included in the study. Their ages ranged from 1 to 21 days at admission, including 6 boys and 4 girls. The medical records of mother-baby dyads were reviewed. All mothers, except for one, were negative for COVID-19 infection. The most frequent findings in the neonates were fever, poor feeding, respiratory distress, cough, hypoxemia, and drooling. Broad-spectrum antibiotics were administered as routine. All neonates, except for one, needed respiratory support, and intratracheal surfactant was administered for three newborns. Three neonates with severe disorders died during the study period.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"7394175"},"PeriodicalIF":0.9,"publicationDate":"2022-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9532159/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33510498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2