Case Reports in Pediatrics最新文献_第9页

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":null,"pages":null},"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

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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":null,"pages":null},"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":null,"pages":null},"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

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

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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

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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

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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

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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":null,"pages":null},"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