scurvy

  • 文章类型: Case Reports
    镰刀,维生素C缺乏引起的疾病,由于胶原蛋白产生和抗氧化功能缺陷,其特征是多系统疾病综合征。这种情况在这个现代时代很少见;因此,它通常不在鉴别诊断范围内.广泛的临床表现通常被忽略为其他系统性疾病,导致广泛的调查延误了诊断。在这里,我们报告了一例8岁的自闭症谱系障碍男孩,他有下肢疼痛和其他全身症状.检查发现上肢和下肢有多个色素沉着过多的疤痕和牙龈色素沉着过多。有挑食习惯的病史和影像学检查结果支持的临床症状,根据低含量的抗坏血酸怀疑并随后证实了镰刀病。补充维生素C和适当的营养支持,病人恢复得很好。
    Scurvy, a condition caused by vitamin C deficiency, is characterized by a syndrome of multisystem disorder due to defective collagen production and antioxidative function. This condition is infrequent in this modern era; thus, it is often not within the list of differential diagnoses. The broad clinical picture is generally overlooked as other systemic illnesses, resulting in an extensive investigation that delays the diagnosis. Herein, we report a case of an 8-year-old boy with underlying autism spectrum disorder who presented with lower limb pain and other constitutional symptoms. Examination revealed multiple hyperpigmented scars over the upper and lower limbs and gingival hyperpigmentation. With history of picky eating habits and clinical symptoms supported by radiographic findings, scurvy was suspected and subsequently confirmed based on a low level of ascorbic acid. With vitamin C supplementation and proper nutritional support, the patient recovered well.
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  • 文章类型: Journal Article
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  • 文章类型: Case Reports
    镰刀是一种罕见的病理状况,由持续的膳食维生素C缺乏引起。放射学变得很关键,因为对镰刀病的诊断过程很复杂,因为它与骨肿瘤相似。一个六岁的男孩,报告在住院前2个月的右大腿持续疼痛和肿胀。临床检查显示右侧大腿有肿块,贫血。右股骨的X线片显示广泛的骨质疏松改变,\"Trümmerfeld区\",\"弗兰克尔线\",“骨盆骨折”,\"Wimberger戒指标志\",骨phy旁骨膜下血肿。我们机构在过去十年中没有任何此类案例,这突出了这种介绍的独特性。组织病理学评估产生非典型结果,提示对左股骨和胸部进行进一步的影像学评估。随后的发现证实了经典的“蝎子念珠”的陈述,表明了镰刀。高剂量补充维生素C后,患者的症状逐渐缓解。镰刀病主要表现为肌肉骨骼表现。血浆维生素C水平评估是诊断的金标准,但它目前在我们国家是无法进入的。因此,影像学评估揭示了该疾病的病理特征。在胸片上,\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\相比之下,长骨表现出镰刀症的标志:弥漫性骨质减少,\"弗兰克尔线\",\"Trümmerfeld区\",“骨盆骨折”,\"Wimberger戒指标志\",骨phy旁骨膜下血肿。维生素C的及时干预阻碍了严重并发症的进展。放射学是诊断小儿镰刀病不可或缺的工具,尤其是在无法评估维生素C血清水平的发展中国家。
    Scurvy is an infrequent pathological condition resulting from a sustained dietary vitamin C deficiency. Radiology becomes pivotal because the diagnostic process for scurvy can be intricate, given its resemblance to bone neoplasms. A 6-year-old boy, reported persistent pain and swelling in the right thigh for 2 months prior to hospitalization. Clinical examination revealed a mass localized in the right thigh and anemia. A radiograph of the right femur demonstrated extensive osteopenic changes, \"Trümmerfeld zone\", \"Frankel line\", \"Pelkin fracture\", \"Wimberger ring sign\", and para-epiphyseal subperiosteal hematoma. The absence of any such cases in our institution over the preceding decade emphasizes the uniqueness of this presentation. Histopathological evaluation yielded atypical results, prompting further radiographic assessment of the left femur and thorax. The subsequent findings corroborated the classic \"scorbutic rosary\" presentation, indicative of scurvy. The patient\'s symptoms gradually resolved with high-dose supplementation of vitamin C. Scurvy predominantly presents with musculoskeletal manifestations. Plasma vitamin C level assessment is the gold standard for the diagnosis, but it is currently inaccessible in our nation. Consequently, radiographic evaluation reveals pathognomonic features of the disorder. In thoracic radiographs, the \"scorbutic rosary\" presentation is evident. In contrast, long bones exhibit hallmarks of scurvy: diffuse osteopenia, \"Frankel line\", \"Trümmerfeld zone\", \"Pelkin fracture\", \"Wimberger ring sign\", and para-epiphyseal subperiosteal hematoma. Prompt intervention with vitamin C thwarts the progression to severe complications. Radiology is an indispensable tool in diagnosing pediatric scurvy, especially in developmental countries where the assessment of vitamin C serum levels is inaccessible.
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  • 文章类型: Case Reports
    镰刀是一种罕见的疾病,其特征是缺乏膳食维生素C。从历史上看,这是一种在长期海洋航行的背景下教授的疾病,维生素摄入量有限,现在在发达国家很少见。经典的体检结果包括牙龈出血,卵泡周出血,和开瓶器的头发。我们讨论了一名15岁女性的镰刀病病例,其最初的表现表明在急诊科中发现了更常见的诊断。她的课程因之前的神经性厌食症病史和缺乏必要维生素的限制性饮食而变得复杂。一旦患者的饮食习惯被确定,详细的身体检查揭示了特征性的发现。她随后口服维生素C补充剂出院,并计划进行门诊随访以监测症状。
    Scurvy is a rare condition characterized by a deficiency in dietary vitamin C. Historically a disease taught in the context of long ocean voyages with limited vitamin intake, it is now rare in developed nations. The classical physical exam findings include gingival bleeding, perifollicular hemorrhages, and corkscrew hairs. We discuss the case of a 15-year-old female with scurvy whose initial presentation suggested more common diagnoses seen in the emergency department setting. Her course was complicated by a prior history of anorexia nervosa and a restrictive diet that lacked necessary vitamins. Once the patient\'s dietary habits were identified, a detailed physical exam revealed the characteristic findings. She was subsequently discharged with oral vitamin C supplements and was scheduled for outpatient follow-up to monitor symptoms.
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  • 文章类型: Case Reports
    背景:维生素C缺乏,或者镰刀病,是罕见的,但对饮食不良的儿童构成风险,资源有限,或吸收不良的问题。在全球发育迟缓的儿童中,有限制性或选择性饮食习惯的儿童也可能很常见。自闭症谱系障碍,和身体残疾。症状包括疲劳,烦躁,关节和肌肉疼痛,关节膨胀,水肿,牙龈肿胀,容易擦伤,和延迟的伤口愈合。早期识别和及时干预对于预防儿童有症状的维生素C缺乏症的进展至关重要。
    方法:我们介绍了一例因怀疑复发性LennoxGastaut综合征继发发育迟缓的13岁男孩,严重,和非典型IgA血管炎。他表现出烦躁,食欲不振,瘀斑和瘀斑下肢病变,单侧牙龈肿胀,严重的关节炎,外周水肿,严重的体重减轻,贫血,并提高了炎症标志物。在做出镰刀病诊断之前进行了多次调查。手术发现有多个松动牙齿的易碎牙龈组织,毛囊角化过度和毛囊周围红细胞外渗的皮肤活检,和典型的X线检查结果导致了镰刀病的诊断。
    结论:在表现为肌肉骨骼问题的患者中,应仔细考虑作为鉴别诊断,粘膜皮肤投诉,和全身症状,如不适,虚弱,烦躁,和食欲不振。一个集中和详细的饮食历史寻找缺乏良好的维生素C来源可以是这种差异的一个简单的指标。成像研究揭示典型特征也可以帮助做出诊断。揭示病理特征的皮肤病理学可以增加诊断的确定性。在没有其他一切的情况下,对适当剂量的维生素C治疗的快速反应具有诊断和治疗作用。
    BACKGROUND: Vitamin C deficiency, or scurvy, is rare but poses risks for children with poor diets, limited resources, or malabsorption issues. It may also be common in children with restrictive or selective dietary habits in children with global developmental delay, autism spectrum disorder, and physical disabilities. Symptoms include fatigue, irritability, joint and muscle pain, joint swellings, edema, swollen gums, easy bruising, and delayed wound healing. Early recognition and prompt intervention are essential to prevent the progression of symptomatic vitamin C deficiency in children.
    METHODS: We present a case of a 13-year-old boy with developmental delay secondary to Lennox Gastaut syndrome referred for suspected recurrent, severe, and atypical IgA vasculitis. He presented with irritability, loss of appetite, petechial and ecchymotic lower limb lesions, unilateral gum swelling, severe arthritis, peripheral oedema, severe weight loss, anaemia, and raised inflammatory markers. Multiple investigations were performed before the diagnosis of scurvy was made. A surgical finding of friable gingival tissue with multiple loose teeth, a skin biopsy with follicular hyperkeratosis and extravasated perifollicular red blood cells, and a typical X-ray finding led to the diagnosis of scurvy.
    CONCLUSIONS: Scurvy should be given careful consideration as a differential diagnosis in patients presenting with musculoskeletal issues, mucocutaneous complaints, and constitutional symptoms such as malaise, asthenia, irritability, and loss of appetite. A focused and detailed dietary history looking for a lack of good sources of vitamin C can be an easy indicator of this differential. Imaging studies revealing the typical features can also help make the diagnosis. Pathology of the skin revealing pathognomonic features can add to the certainty of the diagnosis. In the absence of all else, the rapid response to treatment with an appropriate dose of vitamin C has a diagnostic and therapeutic role.
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  • 文章类型: Case Reports
    该病例研究的特点是一名患有克罗恩病(CD)的40岁男性,最初被误诊为血管炎,但后来由于维生素C缺乏而被证明患有镰刀症。患者的饮食几乎完全由高度加工的快餐组成,没有新鲜的水果或蔬菜。一个有点敏感的人,他的小腿上有紫罗兰色的皮疹,轻度牙龈出血和肿大,肌肉酸痛是他的症状之一。在实验室研究中发现了贫血和无法检测到的维生素C水平。皮肤样本显示毛囊角化过度,盘绕的毛发,和卵泡周围出血,消除血管炎的可能性。通过在肌肉活检中发现的无法检测到的维生素C水平和肌内出血来证实,可以确认是否患有此病。服用维生素C一个月后,病人的皮肤是完全清楚的。这个例子强调了在患有CD和其他可能导致吸收不良的疾病的患者中考虑维生素C不足的重要性。误诊可能导致不必要的治疗和医疗费用。必须尽快诊断,因为它可能导致胃肠道/脑内出血和死亡。
    This case study features a 40-year-old male with Crohn\'s disease (CD) who was initially misdiagnosed with vasculitis but was later shown to have scurvy owing to vitamin C deficiency. The patient\'s diet was nearly exclusively made up of highly processed fast food, with no fresh fruits or vegetables. A mildly sensitive, violaceous rash on his lower legs, mild gingival hemorrhage and enlargement, and muscle soreness were among his symptoms. Anemia and undetectable vitamin C levels were discovered in laboratory studies. A skin sample revealed follicular hyperkeratosis, coiled hairs, and perifollicular bleeding, eliminating the possibility of vasculitis. Scurvy was confirmed by undetectable vitamin C levels and intramuscular bleeding discovered during a muscle biopsy. After one month of vitamin C administration, the patient\'s skin was entirely clear. This instance emphasizes the significance of taking vitamin C insufficiency into account in patients with CD and other disorders that can cause malabsorption. Misdiagnosis might result in unneeded treatments and medical expenses. Scurvy must be diagnosed as soon as possible because it might cause gastrointestinal/intracerebral hemorrhage and death.
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  • 文章类型: Case Reports
    维生素C缺乏,也被称为镰刀病,导致结缔组织异常和各种症状。我们描述了一个壳出血的病人,非常罕见的镰刀病。一名39岁的男子左臂和左腿虚弱。最初诊断为右侧肠管出血,他接受了脑出血的疏散。反复体格检查显示有出血倾向和多次未经治疗的龋齿时,怀疑患有此病,缺失的牙齿,和牙龈炎.该患者的吸烟史进一步支持了对风湿病的诊断,酒精使用障碍,不良饮食,和低血浆维生素C浓度。在接受包括维生素C在内的口服营养补充剂后,出血倾向迅速改善。该病例强调了在对有出血倾向的患者进行鉴别诊断时,包括镰刀的重要性。尤其是那些饮食不良或饮食史不详的人。经验性服用维生素C是一种合理的治疗方法。
    Vitamin C deficiency, also known as scurvy, causes abnormalities in connective tissues and varied symptoms. We describe a patient with putaminal hemorrhage, a very rare presentation of scurvy. A 39-year-old man presented with weakness in the left arm and left leg. Right putaminal hemorrhage was initially diagnosed, and he underwent evacuation of the intracerebral hemorrhage. Scurvy was suspected when repeated physical examinations revealed a bleeding tendency and multiple untreated dental caries, missing teeth, and gingivitis. A diagnosis of scurvy was further supported by the patient\'s history of smoking, alcohol use disorder, poor diet, and low plasma vitamin C concentration. After receiving oral nutritional supplementation including vitamin C, the bleeding tendency quickly improved. This case highlights the importance of including scurvy in a differential diagnosis for patients with bleeding tendencies, especially those with a poor diet or unknown dietary history. Empirical administration of vitamin C is a reasonable treatment.
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  • 文章类型: Case Reports
    镰刀是一种由缺乏维生素C引起的疾病。它是一种营养缺乏,与多种严重疾病有关。尽管由于食品和营养补充剂的进步,发达国家现在很少报告这些病例,它们在发展中国家仍然很普遍,虽然罕见,因为营养不良。由于镰刀病的患病率较低,在大多数情况下,诊断延迟,有时完全错过,这会导致严重的并发症和不必要的手术。这里,我们介绍了一例罕见的4岁女性儿童患有严重急性营养不良(SAM),并伴有镰刀症.最初的临床体征显示SAM。对左股骨和膝关节进行X线和MRI检查,以进一步评估骨科参数。临床表现和X线影像学检查证实了镰刀病的所有体征。患者开始使用配方食品75(F-75)饮食,以解决严重的营养不良,并观察到稳定的体重增加。
    Scurvy is a disease caused by a lack of vitamin C. It is a nutritional deficiency that is associated with multiple severe conditions. Although developed countries report these cases rarely now due to advancements in food and nutritional supplements, they are still prevalent in developing countries, albeit rare, because of poor nutritional status. Due to the lower prevalence of scurvy, diagnosis is delayed in the majority of cases and sometimes missed completely, which results in serious complications and unnecessary workups. Here, we present a rare case of a four-year-old female child with severe acute malnutrition (SAM) presenting with scurvy. The initial clinical signs showed SAM. X-ray and MRI of the left femur and knee were done to further evaluate the orthopedic parameters. Clinical presentation and radiographic imaging confirmed all the signs of scurvy. The patient was started on the Formula 75 (F-75) diet to address the severe malnutrition, and steady weight gain was observed.
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  • 文章类型: Systematic Review
    背景:在早期文献中,人类无意中的维生素C缺乏与心力衰竭有关。豚鼠的实验性维生素C缺乏导致心脏增大。目的收集和分析维生素C和肺动脉高压的病例报告。
    方法:我们搜索了Pubmed和Scopus的案例研究,其中维生素C缺乏被认为是肺动脉高压的原因。我们选择了通过超声心动图或导管检查诊断为肺动脉高压的报告,对于任何年龄,性别,或维生素C的剂量。我们提取了定量数据进行分析。我们使用平均肺动脉压(mPAP)作为主要目标的结果。
    结果:我们确定了32例病例报告,其中21篇发表于过去5年。有69%的人报告呼吸困难,53%的患者水肿和28%的患者疲劳。维生素C血浆水平,在27个案例中测量,在24例中检测不到,在3例中检测不到。饮食不良30例,神经精神障碍17例。报告24例右心室扩大。在维生素C缺乏期间,mPAP中位数为48mmHg(范围29~77mmHg;N=28).开始服用维生素C后,mPAP中位数为20mmHg(范围12~33mmHg;N=18).对于后18例,维生素C缺乏时mPAP高2.4倍(中位数)。报告维生素C缺乏期间的肺血管阻力(PVR)9例,范围从4.1到41木材单位。维生素C缺乏期间的PVR比维生素C施用期间高9倍(中位数;N=5)。在8个案例中,有直接证据表明这些病例是肺动脉高压(PAH)。可能其余的大多数病例也是PAH。
    结论:我们研究中分析的病例表明,肺动脉高压可能是早期文献中报道的镰刀病患者心力衰竭的一种解释。测量PH患者的血浆维生素C水平并检查维生素C给药的效果似乎是明智的。
    BACKGROUND: In the early literature, unintentional vitamin C deficiency in humans was associated with heart failure. Experimental vitamin C deficiency in guinea pigs caused enlargement of the heart. The purpose of this study was to collect and analyze case reports on vitamin C and pulmonary hypertension.
    METHODS: We searched Pubmed and Scopus for case studies in which vitamin C deficiency was considered to be the cause of pulmonary hypertension. We selected reports in which pulmonary hypertension was diagnosed by echocardiography or catheterization, for any age, sex, or dosage of vitamin C. We extracted quantitative data for our analysis. We used the mean pulmonary artery pressure (mPAP) as the outcome of primary interest.
    RESULTS: We identified 32 case reports, 21 of which were published in the last 5 years. Dyspnea was reported in 69%, edema in 53% and fatigue in 28% of the patients. Vitamin C plasma levels, measured in 27 cases, were undetectable in 24 and very low in 3 cases. Diet was poor in 30 cases and 17 cases had neuropsychiatric disorders. Right ventricular enlargement was reported in 24 cases. During periods of vitamin C deficiency, the median mPAP was 48 mmHg (range 29-77 mmHg; N = 28). After the start of vitamin C administration, the median mPAP was 20 mmHg (range 12-33 mmHg; N = 18). For the latter 18 cases, mPAP was 2.4-fold (median) higher during vitamin C deficiency. Pulmonary vascular resistance (PVR) during vitamin C deficiency was reported for 9 cases, ranging from 4.1 to 41 Wood units. PVR was 9-fold (median; N = 5) higher during vitamin C deficiency than during vitamin C administration. In 8 cases, there was direct evidence that the cases were pulmonary artery hypertension (PAH). Probably the majority of the remaining cases were also PAH.
    CONCLUSIONS: The cases analyzed in our study indicate that pulmonary hypertension can be one explanation for the reported heart failure of scurvy patients in the early literature. It would seem sensible to measure plasma vitamin C levels of patients with PH and examine the effects of vitamin C administration.
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  • 文章类型: Case Reports
    一名先前健康的31岁男子出现呼吸急促恶化和瘀点皮疹。超声心动图显示严重的右侧心力衰竭,顺行右室流出多普勒包络的收缩期中期,提示肺动脉高压。一个广泛的检查发现了镰刀病,补充维生素C后不久症状迅速缓解。
    A previously healthy 31-year-old man presented with worsening shortness of breath and a petechial rash. Echocardiography showed severe right-sided heart failure with midsystolic notching of the antegrade right ventricular outflow Doppler envelope suggesting pulmonary hypertension. An extensive work-up revealed scurvy, with a dramatic resolution of symptoms shortly after vitamin C supplementation.
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