Rare最新文献_第6页

First reported case of Dent Disease Type 2 in a Trisomy 21 child 21三体儿童中第一例2型凹痕病报道

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100096

Hasani Hewavitharana , Randula Ranawaka , Vajira H.W. Dissanayake

引用次数: 0

Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients) 法国的转甲状腺素淀粉样变性心肌病：横断面多中心研究（333 名患者）

Rare Pub Date : 2024-02-01 DOI: 10.1016/j.rare.2024.100021

Thibaud Damy, E. Donal, Olivier Lairez, Jean-Christophe Eicher, Mounira Karoubi, J. Trochu, Jocelyn Inamo, Gilbert Habib, François Roubille, A. Hagège, Flore Morio, E. Cariou, Jérôme Adda, Vincent Algalarrondo, Agathe Coste, Mathilde Bartoli, Jérémie Rudant, Lara Salvi, B. Francou, A. Guiochon‐Mantel, David Adams, Jean-Christophe Antoine, Shahram Attarian, P. Cintas, Raul Juntas Morales, Emmeline Lagrange, Laurent Magy, M. Mallaret, Yann Péréon, Philippe Petiot, C. Cauquil, C. Labeyrie, Andoni Echaniz-Laguna, G. Solé, C. Tard, S. Oghina, Philippe Charron, Michel Slama

引用次数: 0

Unmasking the invisible: Complex lymphatic anomaly uncovered by bilateral chylothorax 揭开隐形的面纱双侧乳糜胸揭示的复杂淋巴异常

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100047

H. Ikrou , A. Ibenyahia , N. Boutbagha , M. Hachmi , M. Makloul , F. Ammor , I. lefquih , M. Maidi , S. Wakrim , O. Halloumi , S. Abdala , H. Serhane

{"title":"Unmasking the invisible: Complex lymphatic anomaly uncovered by bilateral chylothorax","authors":"H. Ikrou , A. Ibenyahia , N. Boutbagha , M. Hachmi , M. Makloul , F. Ammor , I. lefquih , M. Maidi , S. Wakrim , O. Halloumi , S. Abdala , H. Serhane","doi":"10.1016/j.rare.2024.100047","DOIUrl":"10.1016/j.rare.2024.100047","url":null,"abstract":"<div><div>Complex lymphatic anomalies (CLA) are an extremely rare group of disorders resulting from embryogenic lymphatic malformations that are characterized by overlapping clinical, anatomic location, imaging features, and complications. Due to their low incidence, these conditions are often reported in case studies and small series Chylothorax, or the accumulation of chyle in the pleural space, is a rare condition typically resulting from thoracic duct rupture or interruption. In CLA, it is one of the most frequent complications that reveal this pathology. It may occur as a result of the involvement of the lymphatic vessels of the pleura or thoracic duct by adjacent osteolysis. Some of the diagnoses include Gorham Stout disease and generalized lymphatic anomaly, which can be differentiated mostly by analyzing the imaging patterns of bone lesions. Diagnosis is based on clinical, analytical, radiological, and histopathological findings. We are reporting a case of a young 22-year-old female that presented with acute bilateral chylothorax with secondary to CLA. The diagnosis was confirmed through radiological findings using the non contrast MR lymphography, that revealed the presence of lymphatic malformations that were responsable for lytic bone lesions, and a splenic cystic lesion that was also compatible with the diagnosis, that was later on confirmed by histopathological of the pleural tissu,. This report aims to increase awareness and improve diagnostic approach of CLA, emphasizing the role of comprehensive imaging.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100047"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142416946","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

A novel homozygous frameshift variant in SPTBN4 causes axonal neuropathy with intellectual disability in a consanguineous family SPTBN4 中的一个新型同卵框移变异导致一个近亲家庭出现轴突性神经病并伴有智力障碍

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100037

Rabab Ibrahim , Ghazala Zafar , Shafaq Ramzan , Hijab Zahra , Asmat Ali , Shahnaz Ibrahim , Mathias Toft , Zafar Iqbal , Ambrin Fatima

{"title":"A novel homozygous frameshift variant in SPTBN4 causes axonal neuropathy with intellectual disability in a consanguineous family","authors":"Rabab Ibrahim , Ghazala Zafar , Shafaq Ramzan , Hijab Zahra , Asmat Ali , Shahnaz Ibrahim , Mathias Toft , Zafar Iqbal , Ambrin Fatima","doi":"10.1016/j.rare.2024.100037","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100037","url":null,"abstract":"<div><h3>Introduction</h3><p>Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is an autosomal recessive condition arising from variations in the <em>SPTBN4</em> gene. This gene codes for βIV-spectrin, a non-erythrocytic member of the β-spectrin family. Homozygous variants in <em>SPTBN4</em> disrupt the cytoskeletal machinery responsible for localization of ion channels and functioning of axonal domains, leading to neurological dysfunction.</p></div><div><h3>Case presentation</h3><p>Here, we report three siblings with a homozygous frameshift indel c.1799–1800delGC in the <em>SPTBN4</em>, all presenting with severe muscular hypotonia, dysphagia, absent or limited speech, delayed gross motor development, global developmental delay, and intellectual disability. This condition has been associated with numerous secondary features.</p></div><div><h3>Conclusion</h3><p>The phenotype reported in our family contributes to establishing the core symptoms associated with mutations in <em>SPTBN4</em>, with varying levels of developmental delay, intellectual disability, limited speech, and congenital hypotonia.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100037"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000206/pdfft?md5=4070b94c4c5a287e3117999f7349b86a&pid=1-s2.0-S2950008724000206-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141593402","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

Mitchell-Riley Syndrome: A rare genetic disorder, case report 米切尔-瑞利综合征：罕见遗传性疾病，病例报告

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100042

Shria Sadhu, Nibal Albitar, Mai AlKhouly, Aqeel Farooque

{"title":"Mitchell-Riley Syndrome: A rare genetic disorder, case report","authors":"Shria Sadhu, Nibal Albitar, Mai AlKhouly, Aqeel Farooque","doi":"10.1016/j.rare.2024.100042","DOIUrl":"10.1016/j.rare.2024.100042","url":null,"abstract":"<div><p>Mitchell-Riley Syndrome (MRS), is a rare autosomal recessive genetic disorder due to recessive mutations of the <em>RFX6 gene</em>. It has a distinct clinical phenotype marked by neonatal diabetes and chronic diarrhoea, accompanied by various anomalies within the digestive system such as intestinal atresia/malrotation, pancreatic hypoplasia, biliary atresia, and gallbladder aplasia or hypoplasia, with or without cholestasis. Early identification will prompt the physician toward a genetic diagnosis, aggressive clinical management, and family counselling. We report a case of a male infant with neonatal diabetes and intestinal obstruction, with genetically confirmed RFX6 missense homozygous variant. Though our infant ultimately succumbed to gram positive <em>(Staphylococcus epidermidis)</em> septicaemia originating from an infected central venous catheter, multidisciplinary and intensive disease management overall improves the clinical outcome in patients with Mitchell-Riley Syndrome. This includes tailored parenteral/oral nutrition and the use of advanced diabetes technologies. This rare syndrome is usually fatal, with death within the first year of life in the majority of reported cases. Clinicians should consider the possibility of this rarely reported syndrome in the diagnosis of a newborn that presents with hyperglycaemia along with intestinal atresia and/or progressive cholestasis. A better understanding of RFX6 function among both intestine and pancreas cells is essential for the identification of using new drugs that could modulate the enteroendocrine system.</p></div><div><h3>Level of clinical evidence</h3><p>4</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100042"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000255/pdfft?md5=63dee1ee5d8ba096605a1da65596656d&pid=1-s2.0-S2950008724000255-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142083967","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

FDA approves leniolisib (Joenja) as the first treatment for APDS: A breaththrough in the field of immunology 美国 FDA 批准来尼利西布（Joenja）作为 APDS 的首款治疗药物：免疫学领域的重大突破

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100028

Muhammad Talha , Mohammad Haris Ali

引用次数: 0

Economics, externalities and rare disease 经济学、外差因素与罕见病

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100036

Carlisle Ford Runge , James Campbell , Carlisle P. Runge , Reena V. Kartha

引用次数: 0

Rare disease care in Europe – Gaping unmet needs 欧洲罕见病护理--尚未满足的巨大需求

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100018

Philippe Pakter

引用次数: 0

Retinal vasculopathy with cerebral leukoencephalopathy with TREX1 mutation: a rare entity with a new mutation 视网膜血管病变伴脑白质脑病与TREX1基因突变：一种新基因突变的罕见病例

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100032

Michela Giacoma Pin , Lucia Corrado , Gionata Strigaro , Andrea Bianco , Mattia Bellan , Claudio Musetti , Letizia Mazzini , Roberto Cantello , Sandra D’Alfonso , Domizia Vecchio

{"title":"Retinal vasculopathy with cerebral leukoencephalopathy with TREX1 mutation: a rare entity with a new mutation","authors":"Michela Giacoma Pin , Lucia Corrado , Gionata Strigaro , Andrea Bianco , Mattia Bellan , Claudio Musetti , Letizia Mazzini , Roberto Cantello , Sandra D’Alfonso , Domizia Vecchio","doi":"10.1016/j.rare.2024.100032","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100032","url":null,"abstract":"<div><p>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant vasculopathy caused by heterozygous C-terminal truncating mutations in three-prime repair exonuclease (<em>TREX1</em>) gene. The clinical spectrum includes vascular retinopathy, focal brain dysfunctions and other systemic manifestations, including Raynaud phenomenon, anemia with gastrointestinal bleeding, hypothyroidism and liver and kidney diseases. We report the case of a 46-year-old Italian man with RVCL-S, initially misdiagnosed as glioma or cerebral lymphoma. The patient presented with a 5-day history of mild ideo-motor slowdown, subacute mild left hemiparesis and dysarthric speech. Brain magnetic resonance imaging (MRI) showed a right temporo-insular large lesion with surrounding edema and inhomogeneous enhancement. One month later he presented focal motor seizures to his left side with subsequent generalization. He repeated a brain MRI showing a dimensional increase of the lesion (restricted at diffusion weighted imaging and enhanced peripherally). Medical history included microvascular liver disease, microvascular kidney disease, anemia, and scleroderma with Raynaud’s phenomenon. On oral steroids, a third brain MRI demonstrated volumetric reduction of the lesion with small nodular enhancement. Considering the pseudotumoral brain onset and the multisystemic involvement, RVCL-S was suspected and genetic analysis confirmed the presence of the new heterozygous mutation p.S267Qfs*57 in the C-terminal of the <em>TREX1</em> gene.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100032"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000152/pdfft?md5=6af9ff278294d83544c534f50b6d86b3&pid=1-s2.0-S2950008724000152-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140879899","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

Recurrent GIST and pulmonary chondroid hamartoma: Case report of incomplete Carney triad 复发性 GIST 和肺软骨火腿肠瘤：不完全卡尼三联症病例报告

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100038

B.P.C. Hoppe , A.J. Breugom , H. Dik

引用次数: 0