Journal of rare diseases and orphan drugs最新文献

A Large Recurrent Retroperitoneal Lymphangioma in a Previously Healthy Adolescent Male: A Case Report 一名原本健康的男性青少年腹膜后巨大复发性淋巴管瘤：病例报告

Journal of rare diseases and orphan drugs Pub Date : 2023-12-10 DOI: 10.36013/jrdod.v4i.127

Samer Bou Karroum, Ayachi Fakhreddine, Raphael Mattamal

{"title":"A Large Recurrent Retroperitoneal Lymphangioma in a Previously Healthy Adolescent Male: A Case Report","authors":"Samer Bou Karroum, Ayachi Fakhreddine, Raphael Mattamal","doi":"10.36013/jrdod.v4i.127","DOIUrl":"https://doi.org/10.36013/jrdod.v4i.127","url":null,"abstract":"Lymphangiomas are uncommon benign lymphatic vessel tumors that can affect any area of the body served with the lymphatic system. Intra-abdominal lymphangiomas are considered rare, accounting for less than 5 percent of all lymphangioma cases. In this case report, we present a recurrent large retroperitoneal lymphangioma in a previously healthy 15-year-old boy. The patient presented to the Emergency Department with abdominal pain lasting for one week. The pain, described as diffuse, crampy, and non-radiating, gradually increased with time and was aggravated by movement. A large retroperitoneal fluid collection was found on the Computed Tomography (CT) scan. Subsequently, the patient underwent CT-guided drainage, at which 700ml of bloody fluid was extracted. After three months, the patient was readmitted to the hospital for a similar presentation of abdominal fullness and pain. Complete blood count analysis indicated an unremarkable profile, except for a left shift of 82.2% neutrophils and a white blood cell count of 11,300/mcl. A CT scan of the abdomen reported a large, thin-walled cystic lesion in the right hemi-abdomen with minimal thin internal septations, resulting in moderate right hydronephrosis/hydroureter.","PeriodicalId":91032,"journal":{"name":"Journal of rare diseases and orphan drugs","volume":"587 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138982976","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 Particular Case of Autosomal Recessive Progressive Symmetrical Erythrokeratodermia (PSEK) and a Review of the Literature. 常染色体隐性进行性对称性红色角化病（PSEK）的一个特殊病例和文献综述。

Journal of rare diseases and orphan drugs Pub Date : 2023-08-01 DOI: 10.36013/jrdod.v4i.119

A. Gelmetti, F. Besagni, L. Garavelli, E. Pisaneschi, C. Misciali, Lara Valeri, Francesca Peluso, M. Chessa, M. Leuzzi, A. Virdi, B. M. Piraccini, I. Neri

{"title":"A Particular Case of Autosomal Recessive Progressive Symmetrical Erythrokeratodermia (PSEK) and a Review of the Literature.","authors":"A. Gelmetti, F. Besagni, L. Garavelli, E. Pisaneschi, C. Misciali, Lara Valeri, Francesca Peluso, M. Chessa, M. Leuzzi, A. Virdi, B. M. Piraccini, I. Neri","doi":"10.36013/jrdod.v4i.119","DOIUrl":"https://doi.org/10.36013/jrdod.v4i.119","url":null,"abstract":"Abstract: Case report A A 10-year-old female patient born from non-consanguineous healthy parents after a regular pregnancy developed, at the age of 3 months, diffuse hyperkeratotic, pruritic plaques on her face, forearms, wrists, perineal and sacral regions in a mosaic pattern distribution, growing progressively. Laboratory and instrumental investigations and a skin biopsy were performed, and both the patient and her parents underwent genetic testing. Histology described acanthosis and orthokeratotyc hyperkeratosis in a basket-weave pattern. Genetic investigations revealed, in our patient, a pathogenic paternal variant and the deletion of the corresponding maternal allele associated with the autosomal recessive form of Progressive Symmetrical Erythrokeratodermia (PSEK). Discussion A review of the literature showed similarities and differences with this case. Diagnosis of autosomal recessive PSEK was made, uniquely associated in our patient with another genetic mutation of the KRT2 gene. Systemic retinoids and topical emollients were started, leading to a significant reduction of hyperkeratosis and a progressive resolution of the lesions. The most interesting feature was their further evolution, with the onset of sparing areas, suggestive of revertant mosaicism, although not confirmed by histology. Conclusion This is the first case of Progressive Symmetrical Erythrokeratodermia associated with both the c.879G>A genomic variant in the KDSR gene and the p.Ala517Gly genetic variant of the KRT2 gene. A clinical picture was suggestive of revertant mosaicism observed in the patient, which, to date, has never been described in the literature. Systemic therapy with oral retinoids in association with topical keratolytics.","PeriodicalId":91032,"journal":{"name":"Journal of rare diseases and orphan drugs","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41579630","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

Neonatal Intraventricular Hemorrhage Presenting as Pyrexia of Newborn: A Case Report 新生儿脑室出血伴发热1例

Journal of rare diseases and orphan drugs Pub Date : 2023-06-10 DOI: 10.36013/jrdod.vi.115

Maha Taranish, Saima Almani, O. Adesanya

{"title":"Neonatal Intraventricular Hemorrhage Presenting as Pyrexia of Newborn: A Case Report","authors":"Maha Taranish, Saima Almani, O. Adesanya","doi":"10.36013/jrdod.vi.115","DOIUrl":"https://doi.org/10.36013/jrdod.vi.115","url":null,"abstract":"Abstract: \u0000Background Temperature instability is a relatively common presenting symptom in a Neonatal Intensive Care Unit (NICU) with sepsis being one of the major etiologies that need to be ruled out. However, an important differential diagnosis is a central fever. Many cases of Intracranial Hemorrhage/Intraventricular Hemorrhage (ICH/IVH) present with temperature dysregulation with no other clear associated symptoms, and cranial imaging for early identification and treatment of ICH/IVH is crucial. \u0000Case report A 3-day-old male born at 33 weeks and four days of gestation who was admitted to the neonatal critical care unit due to prematurity and respiratory distress was noted to be febrile during the fourth hospital day. The septic screen was negative, and the patient continued to spike fever while on broad-spectrum antimicrobial treatment. Due to an unexplained drop in his hematocrit, cranial ultrasound was done, and grade III IVH was identified. The patient continued to improve clinically, but the exact etiology of his IVH was not identified. His fever resolved without interventions, and his IVH continued to decrease in size. Serial cranial imaging was done in NICU, and no neurosurgical interventions were warranted. He was referred to neurosurgery and neurology and followed in the infant’s high-risk clinic. \u0000Discussion Sepsis is the top of differentials when managing a newborn infant in NICU. However, we must always keep our minds open to other differentials, including central hyperthermia. Extreme prematurity is a major risk factor for ICH/IVH in the neonatal period; nonetheless, other risk factors are identified, and many cases of ICH/IVH had no identified causative factor or even risk factors. \u0000Conclusion Identifying clinical presentation and risk factors associated with ICH and IVH in NICU patients is crucial for early diagnosis and offers appropriate management. A high index of suspicion is required to promptly diagnose ICH/IVH resulting in central fever and avoid unnecessary workup and treatment.","PeriodicalId":91032,"journal":{"name":"Journal of rare diseases and orphan drugs","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47558701","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}

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First Reported Lebanese Patient with Dihydrolipoamide Dehydrogenase Deficiency 黎巴嫩首例二氢硫酰胺脱氢酶缺乏症患者

Journal of rare diseases and orphan drugs Pub Date : 2023-04-01 DOI: 10.36013/jrdod.vi.114

Marwa El Masri, Carla Chikhani, H. Mansour, Rami Ghabril, D. Hamod, Andre Mgarbane, M. Sokhn

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Multicystic dysplastic kidney and contralateral renal agenesis in a twin gestation: A case report 双胎妊娠多囊性肾发育不良伴对侧肾发育不全1例

Journal of rare diseases and orphan drugs Pub Date : 2023-01-15 DOI: 10.36013/jrdod.v3i.108

John C. Faircloth, T. Vasylyeva, Ma Cristine C Cabanas, N. Sankoorikkal

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Extreme Hyperleukocytosis in an Extremely Preterm Infant 极度早产儿的极度白细胞增多症

Journal of rare diseases and orphan drugs Pub Date : 2022-07-07 DOI: 10.36013/jrdod.v3i.94

Lucio Ortega, Saleena Ramzanali, Perla Mora, S. Kaylani, O. Adesanya

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UPDATE ON MANAGEMENT OF DURAL ARTERIOVENOUS FISTULAS. 硬脑膜动静脉瘘管理的最新进展。

Journal of rare diseases and orphan drugs Pub Date : 2022-06-07 DOI: 10.36013/jrdod.v3i.102

Mohammed A Azab, Emma R Dioso, Matthew C Findlay, Jayson Nelson, Cameron A Rawanduzy, Philip Johansen, Brandon Lucke-Wold

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The Complexity of Early Diagnosis of Congenital Ataxia: A Case Report. 先天性共济失调早期诊断的复杂性：一例报告。

Journal of rare diseases and orphan drugs Pub Date : 2021-10-18 DOI: 10.36013/jrdod.v2i.58

O. Koreniuk, S. Ilchenko, Anne P. Hernandez

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An Unusual Case of Foreign Body Aspiration in 6-year-old Boy 一例6岁男童异物吸入异常病例

Journal of rare diseases and orphan drugs Pub Date : 2021-03-17 DOI: 10.36013/JRDOD.V2I.55

S. Ilchenko, A. Fialkovska, S. Shchudro

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An Adolescent Girl with Tubulointerstitial Nephritis and Uveitis (TINU) Syndrome 青春期女孩患小管间质性肾炎和葡萄膜炎(TINU)综合征

Journal of rare diseases and orphan drugs Pub Date : 2021-01-18 DOI: 10.36013/JRDOD.V2I.41

Hana Setterquist, K. Stepka

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