Case Reports in Pediatrics最新文献_第7页

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。

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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。

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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

An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life 出生第一天散发性III型成骨不全的罕见诊断

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Case Reports in Pediatrics Pub Date : 2022-06-06 DOI: 10.1155/2022/3251980

Shreeja Shikhrakar, S. K. Mandal, Pradeep Sharma, S. Shrestha, Sanket Bhattarai

{"title":"An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life","authors":"Shreeja Shikhrakar, S. K. Mandal, Pradeep Sharma, S. Shrestha, Sanket Bhattarai","doi":"10.1155/2022/3251980","DOIUrl":"https://doi.org/10.1155/2022/3251980","url":null,"abstract":"Osteogenesis imperfecta (OI) is a group of rare, permanent genetic bone disorders resulting from the mutations in genes encoding type 1 collagen. It usually is inherited by an autosomal dominant pattern, but it can sometimes occur sporadically. Among the four main types, type III is the most severe type which presents with multiple bone fractures, skeletal deformities, blue sclera, hearing, and dental abnormalities. It is estimated that only 1 in 20,000 cases of OI are detected during infancy, and the diagnosis carries a poor prognosis. This case is reported for the rarity of sporadic OI diagnosis in neonates. We present a case of a 1-day-old neonate following a normal vaginal delivery referred to our center in the view of low birth weight and multiple bony deformities. Physical examination revealed an ill-looking child with poor suckling, gross bony deformities in upper and lower limbs, and blue sclera. X-ray showed thin gracile bones with multiple bone fractures. Echocardiography revealed a 4 mm patent ductus arteriosus. The patient was diagnosed with type III OI with patent ductus arteriosus. Though OI is rare in neonates and infants, it should be considered in the differentials in a newborn presenting with multiple bony deformities regardless of family history, history of trauma, or physical abuse. OI is also associated with cardiac anomalies such as the atrial septal defect and patent ductus arteriosus for which echocardiography is recommended routinely.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"79 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80906819","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: 0

Self-Injury with Carbamazepine Intoxication in an Elementary School-Aged Child 卡马西平中毒致小学生自伤

IF 0.9

Case Reports in Pediatrics Pub Date : 2022-05-30 DOI: 10.1155/2022/5135456

A. Shieh, Natalie Schellpfeffer

引用次数: 0

A Report of Rosai–Dorfman Disease in an Adolescent 青少年Rosai-Dorfman病报告

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Case Reports in Pediatrics Pub Date : 2022-05-26 DOI: 10.1155/2022/9571400

Emmanuella Amoako, K. A. Danso, Rosemary Sefakor Akuaku, Kofi Ulzen-Appiah

引用次数: 1

Bean Syndrome in a Child Treated with Sirolimus: About a Case 西罗莫司治疗儿童Bean综合征1例

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Case Reports in Pediatrics Pub Date : 2022-05-24 DOI: 10.1155/2022/8245139

A. Ghanam, A. Elouali, M. Nour, M. Rkain, N. Benajiba, A. Babakhouya

{"title":"Bean Syndrome in a Child Treated with Sirolimus: About a Case","authors":"A. Ghanam, A. Elouali, M. Nour, M. Rkain, N. Benajiba, A. Babakhouya","doi":"10.1155/2022/8245139","DOIUrl":"https://doi.org/10.1155/2022/8245139","url":null,"abstract":"Bean syndrome (BS) or blue rubber bleb nevus syndrome is a rare clinical entity characterized by venous malformations mainly in the skin and digestive tract, whose hemorrhagic complications can be life threatening. We report a case of Bean syndrome in a 3-year-old child of nonconsanguineous parents, in whom the diagnosis of miliary hemangiomatosis was initially made in view of a huge mass on the left thigh, taking the knee, and then the progressive appearance of a skin disorder with bluish swellings of variable sizes spread over the whole body. The patient was put on beta-blockers but without improvement. The evolution was marked by an increase in the volume of the thigh mass. Ultrasound exploration coupled with Doppler imaging revealed the presence of angiomas in the thigh, requiring emergency surgery following a large hemorrhage. The patient underwent sclerotherapy. At the age of 18 months, the child returned with severe anemia and melena. The abdominal CT scan showed gallbladder intussusception secondary to an angioma requiring intestinal resection for hemostasis. At the age of three years, the angiomas worsened with an increase in volume, particularly on the face. The association of the cutaneous and digestive involvement of these venous malformations made us rectify the diagnosis. The patient was put on sirolimus (rapamycin), 2 mg/m2, with good evolution with a delay of 18 months; the patient presents no more episodes of bleeding with regression of the size of cutaneous angiomas. This observation underlines that BS is difficult to diagnose because of its low frequency, that sirolimus was effective and well tolerated in our patient, and that it can be suggested as a good and safe therapeutic option.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"20 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90145097","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: 0

Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly BMP4基因外显子3的新变异导致垂体后叶异位、颅颈交界处畸形和肢体异常

IF 0.9

Case Reports in Pediatrics Pub Date : 2022-05-19 DOI: 10.1155/2022/8059409

V. Calcaterra, R. Lamberti, C. Viggiano, P. Baldassarre, L. Spaccini, R. Alfano, G. Izzo, L. Valentini, G. Zuccotti

{"title":"Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly","authors":"V. Calcaterra, R. Lamberti, C. Viggiano, P. Baldassarre, L. Spaccini, R. Alfano, G. Izzo, L. Valentini, G. Zuccotti","doi":"10.1155/2022/8059409","DOIUrl":"https://doi.org/10.1155/2022/8059409","url":null,"abstract":"Introduction. Pituitary differentiation involves a large number of transcription factors. In particular, BMP4 expression is fundamental for pituitary gland commitment from the ventral diencephalon, suppressing Shh expression in Rathke's pouch. Pathogenic variants in BMP4 are reported in the literature with a broad phenotypic spectrum, including pituitary and brain malformations. Case Presentation. A five-year-old girl came to medical attention following a mild cervical trauma with onset of cervical pain. On clinical examination at birth, postaxial polydactyly type B of the left hand was observed and removed at 10 months of age. A cervical radiography was performed, and a suspicion of craniocervical junction malformation was made. A magnetic resonance imaging of the cervical spine was made, showing an ectopic posterior pituitary, associated with dysmorphism of the craniocervical junction. The anthropometric parameters were pubertal Tanner stage 1, weight 16 kg (z-score: −1.09), height 107 cm (z-score: −0.76), and BMI 14 kg/m2 (z-score: −0.92). Normal hormonal assessment was detected. Genetic analysis via next generation sequencing showed a novel de novo heterozygous variant (c.277 G > T, p.Glu93∗) in exon 3 of BMP4. Discussion. We described a novel mutation in BMP4, resulting in ectopic posterior pituitary with normal hormonal assessment, associated to craniocervical junction dysmorphism and limb anomaly. It is important to monitor patient's growth and puberty and to screen the onset of symptoms related to the deficiency of one or more anterior as well as posterior pituitary hormones.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"29 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75757681","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: 0

A Massive Ewing Sarcoma of the Rib: A Case Report with Literature Review 肋骨巨大尤文氏肉瘤1例并文献复习

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Case Reports in Pediatrics Pub Date : 2022-05-14 DOI: 10.1155/2022/6921004

Naseem Fahad, Dima Hamideh, Rana Zareef, S. Akel

引用次数: 0

Catastrophic Antiphospholipid Syndrome Presenting as a Stroke in an 11-Year-Old with Lupus 灾难性抗磷脂综合征表现为11岁狼疮患者的中风

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Case Reports in Pediatrics Pub Date : 2022-05-13 DOI: 10.1155/2022/7890566

B. Senken, A. Whitehead

引用次数: 2

Infection-Induced Elevated Plasma Perampanel in a Patient with Hemimegalencephaly 感染引起的半巨脑畸形患者血浆Perampanel升高

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Case Reports in Pediatrics Pub Date : 2022-04-29 DOI: 10.1155/2022/9844820

Yuya Kinoshita, H. Ueno, H. Kurata, Chizuru Ikeda, Erika Hori, Takumi Okada, T. Shimazu, I. Fujii, Makoto Matsukura, Hoseki Imamura

{"title":"Infection-Induced Elevated Plasma Perampanel in a Patient with Hemimegalencephaly","authors":"Yuya Kinoshita, H. Ueno, H. Kurata, Chizuru Ikeda, Erika Hori, Takumi Okada, T. Shimazu, I. Fujii, Makoto Matsukura, Hoseki Imamura","doi":"10.1155/2022/9844820","DOIUrl":"https://doi.org/10.1155/2022/9844820","url":null,"abstract":"Perampanel is a noncompetitive, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid glutamate receptor antagonist. Herein, we report a case of increased perampanel plasma concentration and impaired consciousness triggered by an infection. The patient had refractory epilepsy associated with hemimegalencephaly. During adolescence, perampanel (maximum dose, 10 mg, oral), valproic acid, clobazam, and lacosamide were administered for seizure control. He was admitted to our hospital with high fever, impaired consciousness, and elevated perampanel plasma level (from 1,300 to 1,790 ng/mL), but with no increase in the concentration of other antiseizure medications. Further examinations (blood, cerebrospinal fluid, brain magnetic resonance images, and electroencephalogram) revealed no physical cause for impaired consciousness. After discontinuation of perampanel, his level of consciousness gradually improved. The pharmacokinetics of perampanel may be modified by both hemimegalencephaly and infection, resulting in an elevated plasma concentration of perampanel. This case underlines the importance of monitoring perampanel plasma concentration in patients with underlying brain disease who develop an infection.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"29 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78213813","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