Unique/unexpected symptoms or presentations of a disease

疾病的独特 / 意外症状或表现
  • 文章类型: Journal Article
    结论:严重低钠血症和渗透性脱髓鞘综合征(ODS)是一系列与钠浓度相关的紧急疾病的相反两端。严重低钠血症的管理具有挑战性,因为很难平衡导致ODS的过度矫正和导致脑水肿的过度矫正的风险。特别是在患有慢性皮质醇减少症和甲状腺功能减退的患者中。我们报告了一例患有Noonan综合征和未经治疗的前垂体功能减退症的患者,该患者表现为有症状的低钠血症并出现了短暂性ODS。
    结论:严重的前垂体功能减退症伴严重低钠血症的患者,在少量液体和氢化可的松的情况下,钠水平容易快速升高。这些患有慢性前垂体功能减退症的患者发生ODS的风险很高,因此,应注意避免每天升高超过4-6mmol/L。早期识别和挽救去氨加压素和静脉内葡萄糖5%的液体以降低血清钠浓度可能有助于治疗急性ODS。
    CONCLUSIONS: Severe hyponatremia and osmotic demyelination syndrome (ODS) are opposite ends of a spectrum of emergency disorders related to sodium concentrations. Management of severe hyponatremia is challenging because of the difficulty in balancing the risk of overcorrection leading to ODS as well as under-correction causing cerebral oedema, particularly in a patient with chronic hypocortisolism and hypothyroidism. We report a case of a patient with Noonan syndrome and untreated anterior hypopituitarism who presented with symptomatic hyponatremia and developed transient ODS.
    CONCLUSIONS: Patients with severe anterior hypopituitarism with severe hyponatremia are susceptible to the rapid rise of sodium level with a small amount of fluid and hydrocortisone. These patients with chronic anterior hypopituitarism are at high risk of developing ODS and therefore, care should be taken to avoid a rise of more than 4-6 mmol/L per day. Early recognition and rescue desmopressin and i.v. dextrose 5% fluids to reduce serum sodium concentration may be helpful in treating acute ODS.
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  • 文章类型: Journal Article
    结论:高分化甲状腺癌(WDTC),包括乳头状的,卵泡,和Hurthle细胞类型,其特点是病程缓慢,通常位于甲状腺。然而,这些病例中的少数发展为远处转移,最常见的部位是肺,骨头,和淋巴结。WDTC的肝转移很少见,通常与其他远处转移部位一起发现,并且呈多种或弥漫性扩散。WDTC远处转移的识别对治疗和预后有重要影响。然而,因为他们的发病率和认知度低,远处转移经常被诊断为晚期。在这里,我们描述了一例71岁的女性,在常规监测甲状腺乳头状癌(FV-PTC)的滤泡变异,在接受原发性甲状腺肿瘤治疗5年后,被发现有一个单一的肝转移和肝段切除术。该病例强调了对WDTC患者保持警惕监测的重要性,并说明了在意外部位发生独特转移的可能性。需要进一步的研究来了解某些WDTC导致远处转移发展的器官嗜性,并更好地预测侵袭性过程。
    结论:有远处转移的WDTC患者预后差,10年生存率约为50%。远处转移最常见的部位是肺,骨和淋巴结。肝转移在WDTC中很少见,通常是多发性或弥漫性的,并与其他远处转移部位一起发现。WDTC的单个肝转移是一种意想不到的扩散模式,文献中报道的病例很少。WDTC远处转移的罕见部位可在原发肿瘤多年后出现,强调保持警惕监视的重要性。需要更多的研究来预测哪些WDTC肿瘤可能会发展出更具侵略性的病程,允许临床医生对患者进行个性化管理。
    CONCLUSIONS: Well-differentiated thyroid cancer (WDTC), including papillary, follicular, and Hurthle-cell types, is characterized by a slow course and usually remain localized to the thyroid. However, a minority of these cases develop distant metastases with the most common sites being lungs, bones, and lymph nodes. Liver metastases of WDTC are rare and are usually found along with other distant metastases sites and in a multiple or diffuse pattern of spread. The recognition of distant metastasis in WDTC has a significant impact on the treatment and prognosis. However, because of their low incidence and awareness, distant metastases are often diagnosed late. Herein, we describe a case of a 71 years old woman who during routine surveillance of a follicular variant of papillary thyroid cancer (FV-PTC), 5 years after being treated for her primary thyroid tumor, was found to have a single liver metastasis and underwent liver segmental resection. This case highlights the importance of maintaining vigilant surveillance of patients with WDTC, and illustrates the possibility of unique metastasis at unexpected sites. Further studies are needed to understand the organ tropism of some WDTC leading to distant metastases development and to better prediction of an aggressive course.
    CONCLUSIONS: WDTC patients with distant metastases have a poor prognosis with a 10-year survival of about 50%. The most common sites of distant metastases are lung, bone and lymph nodes. Liver metastases are rare in WDTC, are usually multiple or diffuse and are found along with other distant metastases sites. Single liver metastasis of WDTC is an unexpected pattern of spread, and very few cases are reported in the literature. Rare sites of distant metastases in WDTC can manifest many years after the primary tumor, stressing the importance of maintaining vigilant surveillance. More studies are needed to predict which WDTC tumors may develop a more aggressive course, allowing clinicians to individualize patient management.
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  • 文章类型: Journal Article
    结论:我们报告了一例76岁男性,有远缘甲状腺乳头状癌病史,在发作性高血压的背景下出现严重阵发性头痛。脑部成像显示多个病灶,最初病因不明,但怀疑转移灶。寻找原发性恶性肿瘤发现肾上腺肿瘤,生化检测证实诊断为分泌去甲肾上腺素的嗜铬细胞瘤。连续成像显示不同年龄的多发性脑梗塞,血管狭窄和前后循环不规则的证据,分水岭地区的灌注不足。包括血栓栓塞原因或血管炎在内的其他卒中病因的详尽检查并不明显。症状消退了,没有新的梗塞,适当的α-肾上腺素能受体阻断治疗嗜铬细胞瘤后血管口径的改善。这种临床放射学发现表明,多发性梗塞的病因是可逆性脑血管收缩综合征(RCVS)。嗜铬细胞瘤仍然是RCVS的公认原因。在严重高血压的情况下,无法解释的多灶性脑梗死应促使考虑将血管活性肿瘤作为脑血管功能障碍的驱动因素。漏诊或延迟诊断可能会导致其他可治疗疾病的严重神经系统疾病。
    结论:恶性高血压患者病因不明的多灶性分水岭性脑梗死的星座应引发对未确诊的儿茶酚胺分泌肿瘤的考虑,如嗜铬细胞瘤和副神经节瘤。可逆性脑血管收缩综合征是嗜铬细胞瘤的一种严重但可逆的脑血管表现,可能导致中风(缺血性和出血性),癫痫发作,和脑水肿。α-肾上腺素能受体阻滞可以逆转脑血管收缩并防止进一步的脑缺血和梗塞。儿茶酚胺分泌性肿瘤的早期诊断有可能降低脑血管并发症患者的神经系统发病率和死亡率。
    CONCLUSIONS: We report the case of a 76-year-old male with a remote history of papillary thyroid cancer who developed severe paroxysmal headaches in the setting of episodic hypertension. Brain imaging revealed multiple lesions, initially of inconclusive etiology, but suspicious for metastatic foci. A search for the primary malignancy revealed an adrenal tumor, and biochemical testing confirmed the diagnosis of a norepinephrine-secreting pheochromocytoma. Serial imaging demonstrated multiple cerebral infarctions of varying ages, evidence of vessel narrowing and irregularities in the anterior and posterior circulations, and hypoperfusion in watershed areas. An exhaustive work-up for other etiologies of stroke including thromboembolic causes or vasculitis was unremarkable. There was resolution of symptoms, absence of new infarctions, and improvement in vessel caliber after adequate alpha-adrenergic receptor blockade for the management of pheochromocytoma. This clinicoradiologic constellation of findings suggested that the etiology of the multiple infarctions was reversible cerebral vasoconstriction syndrome (RCVS). Pheochromocytoma remains a poorly recognized cause of RCVS. Unexplained multifocal cerebral infarctions in the setting of severe hypertension should prompt the consideration of a vasoactive tumor as the driver of cerebrovascular dysfunction. A missed or delayed diagnosis has the potential for serious neurologic morbidity for an otherwise treatable condition.
    CONCLUSIONS: The constellation of multifocal watershed cerebral infarctions of uncertain etiology in a patient with malignant hypertension should trigger the consideration of undiagnosed catecholamine secreting tumors, such as pheochromocytomas and paragangliomas. Reversible cerebral vasoconstriction syndrome is a serious but reversible cerebrovascular manifestation of pheochromocytomas that may lead to strokes (ischemic and hemorrhagic), seizures, and cerebral edema. Alpha-adrenergic receptor blockade can reverse cerebral vasoconstriction and prevent further cerebral ischemia and infarctions. Early diagnosis of catecholamine secreting tumors has the potential for reducing neurologic morbidity and mortality in patients presenting with cerebrovascular complications.
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  • 文章类型: Journal Article
    结论:在大多数发达国家,乳腺癌是女性最常见的恶性肿瘤,而甲状腺癌则不太常见,女性发病率几乎是男性的三到五倍。自1966年以来,研究表明甲状腺和乳腺癌之间存在关联,尽管有这些研究,它们相关的机制,尚不清楚。我们介绍了一名56岁的女士,该女士最初于2014年在屏幕上发现左乳腺癌,但随后发现腋下隐匿性转移性甲状腺癌,从原发性乳腺手术的前哨淋巴结活检中诊断出来。病人做了左乳房切除术,左腋窝清扫术和甲状腺全切除术,然后进行三个疗程的放射性碘消融。尽管如此,她的甲状腺球蛋白水平持续升高,继发于转移性甲状腺癌胸骨旁转移。乳腺癌和甲状腺癌比偶然更频繁或同步出现。随着原发性癌症死亡率的提高,如乳腺癌和分化型甲状腺癌,作为临床医生,我们将在实践中继续遇到这个协会。
    结论:关于乳腺癌和甲状腺癌之间的关联已有长期观察,尽管这种关联的确切机制尚不清楚。我们的患者在乳腺癌的原发性乳腺癌手术中通过前哨淋巴结活检进行了偶然诊断,并发现了胸骨旁远处骨转移。甲状腺腋窝转移通常很少见。该患者的转移性甲状腺癌表现得更像乳腺癌的有趣性质突出了这两种癌症之间的相关性。随着这些原发性癌症死亡率的提高,临床医生在临床实践中可能会遇到这种关联.转移性乳腺癌和甲状腺癌的全身治疗不同,因此明确诊断转移至关重要。
    CONCLUSIONS: In most developed countries, breast carcinoma is the most common malignancy in women and while thyroid cancer is less common, its incidence is almost three to five times greater in women than in men. Since 1966, studies have demonstrated an association between thyroid and breast cancer and despite these studies, the mechanism/s by which they are related, remains unclear. We present a case of a 56-year-old lady who initially presented in 2014 with a screen detected left breast carcinoma but was subsequently found to have occult metastatic thyroid cancer to the axilla, diagnosed from a sentinel node biopsy from the primary breast procedure. The patient underwent a left mastectomy, left axillary dissection and total thyroidectomy followed by three courses of radioactive iodine ablation. Despite this, her thyroglobulin level continued to increase, which was secondary to a metastatic thyroid cancer parasternal metastasis. Breast and thyroid cancer presents metachronously or synchronously more often than by chance. With improving mortality in primary cancers, such as breast and differentiated thyroid cancer, it is likely that as clinicians, we will continue to encounter this association in practice.
    CONCLUSIONS: There has been a long-standing observation of an association between breast and thyroid cancer although the exact mechanism of this association remains unclear. Our patient presented with thyroid cancer with an incidental diagnosis from a sentinel node biopsy during her primary breast operation for breast cancer and was also found to have a parasternal distant bony metastasis. Thyroid axillary metastases are generally rare. The interesting nature in which this patient\'s metastatic thyroid carcinoma behaved more like a breast carcinoma highlights a correlation between these two cancers. With improving mortality in these primary cancers, clinicians are likely to encounter this association in clinical practice. Systemic therapy for metastatic breast and thyroid cancers differ and therefore a clear diagnosis of metastasis is crucial.
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  • 文章类型: Journal Article
    一名29岁的primigravida妇女,已知有原发性醛固酮增多症病史,原因是右醛固酮增多症,在自然妊娠的估计妊娠5周时出现不受控制的高血压。她的高血压未通过药物治疗得到充分控制,这导致考虑对原发性醛固酮增多症进行手术治疗。她在估计胎龄19周时接受了治愈性右单侧肾上腺切除术。手术并不复杂,术后血压恢复正常.她做到了,然而,由于宫内发育迟缓,剖宫产早产,新生儿结局良好。到目前为止,她的血压很正常。
    原发性醛固酮增多症是继发性高血压最常见的病因,在高血压人群中估计患病率为5-10%。鉴于某些形式可以通过手术治疗,因此认识原发性醛固酮增多症的亚型很重要。妊娠期高血压与更高的母体和胎儿并发症相关。有关妊娠原发性醛固酮增多症治疗的数据有限。如果药物治疗未能充分控制原发性醛固酮增多症的高血压,则可以在妊娠中期考虑进行肾上腺切除术。
    CONCLUSIONS: A 29-year-old primigravida woman with a known history of primary aldosteronism due to a right aldosteronoma presented with uncontrolled hypertension at 5 weeks of estimated gestation of a spontaneous pregnancy. Her hypertension was inadequately controlled with pharmacotherapy which lead to the consideration of surgical management for her primary aldosteronism. She underwent curative right unilateral adrenalectomy at 19 weeks of estimated gestational age. The procedure was uncomplicated, and her blood pressure normalized post-operatively. She did, however, have a preterm delivery by cesarean section due to intrauterine growth retardation with good neonatal outcome. She is normotensive to date.
    CONCLUSIONS: Primary aldosteronism is the most common etiology of secondary hypertension with an estimated prevalence of 5-10% in the hypertensive population. It is important to recognize the subtypes of primary aldosteronism given that certain forms can be treated surgically. Hypertension in pregnancy is associated with significantly higher maternal and fetal complications. Data regarding the treatment of primary aldosteronism in pregnancy are limited. Adrenalectomy can be considered during the second trimester of pregnancy if medical therapy fails to adequately control hypertension from primary aldosteronism.
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  • 文章类型: Journal Article
    结论:II型多腺体自身免疫综合征是一种罕见的疾病,其定义为自身免疫性原发性肾上腺功能不全以及自身免疫性甲状腺疾病和/或I型糖尿病。这些情况的发生通常会间隔几年,虽然在极少数情况下,它可以同时发生。这种综合征也可能与各种非内分泌自身免疫性疾病有关,如白癜风和脱发。乳糜泻与II型多腺体自身免疫综合征较不常见,而与III型多腺体自身免疫综合征更常见。在这里,我们描述了一个有趣的案例,一个年轻的男性同时表现出艾迪生病和格雷夫斯,伴有无症状乳糜泻,作为II型多腺自身免疫综合征的罕见表现。
    结论:II型多腺自身免疫综合征罕见,女性占主导地位,在生命的第三和第四个十年达到高峰。在这种综合征中,艾迪生病的发作通常在I型糖尿病或自身免疫性甲状腺疾病发作之前或之后几年。可以同时发作,在这种情况下。乳糜泻与该综合征异常相关。乳糜泻更常与多腺自身免疫综合征III型相关。乳糜泻应在有相关自身免疫性疾病的患者中进行筛查,如I型糖尿病或自身免疫性甲状腺疾病。
    CONCLUSIONS: Polyglandular autoimmune syndrome type II is a rare condition defined by the presence of autoimmune primary adrenal insufficiency along with autoimmune thyroid disease and/or type-I diabetes. Onset of these conditions will usually be separated by several years, though in rare instances it can occur simultaneously. This syndrome can also be associated with various non-endocrine autoimmune diseases, such as vitiligo and alopecia. Coeliac disease is less commonly associated with polyglandular autoimmune syndrome type II and is more commonly associated with polyglandular autoimmune syndrome type III. Here we describe an interesting case of a young male presenting with simultaneous manifestation of Addison\'s disease and Graves, with coincident asymptomatic coeliac disease, as a rare manifestation of polyglandular autoimmune syndrome type II.
    CONCLUSIONS: Polyglandular autoimmune syndrome type II is rare, has female predominance, and peak onset in the third and fourth decades of life. Onset of Addison\'s disease will usually precede or follow onset of type-I diabetes or autoimmune thyroid disease by several years in this syndrome. Simultaneous onset can occur, as in this case. Coeliac disease is uncommonly associated with this syndrome. Coeliac disease is more commonly associated with polyglandular autoimmune syndrome type III. Coeliac disease should be screened for in patients with associated autoimmune conditions, such as type-I diabetes or autoimmune thyroid disease.
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  • 文章类型: Journal Article
    结论:库欣病是一种罕见的疾病,其特征是由于促肾上腺皮质垂体肿瘤导致皮质醇产生过多。虽然主要治疗是手术切除,术后放射治疗可用于持续的激素控制不足或残留或进行性结构性疾病。尽管结果有所改善,垂体肿瘤的放疗与垂体功能减退有关,视觉缺陷和,很少,继发性恶性肿瘤。我们描述了一个不寻常的病例,一名67岁的女性在37岁时被诊断出患有库欣病,并接受了垂体肿瘤的经蝶入路切除术并进行了手术后外部束放疗(EBRT)。酮康唑用于类固醇生成抑制,最后双侧肾上腺切除术治疗难治性疾病。治疗30年后,她目睹了全身性强直阵挛性癫痫发作。放射学检查证实颅外肿块渗入颞骨并进入脑实质。由于复发性癫痫发作,患者被插管并开始接受地塞米松和抗癫痫治疗.肿瘤切除显示为高级成骨细胞骨肉瘤。不幸的是,患者在重症监护中恶化,并在可能的误吸事件后发生致命的心脏骤停。我们描述了风险因素,放射性骨肉瘤的患病率和治疗,垂体照射的极其罕见和晚期并发症。据我们所知,据报道,这是垂体照射和颅骨骨肉瘤发展之间最长的潜伏期。
    结论:库欣病采用经蝶入路切除作为一线治疗,在不完全切除的情况下使用放射治疗,疾病复发或持续性皮质醇增多症。垂体瘤照射最常见的长期不良结局是30-60%的患者在10年时发生垂体功能减退,不太常见,视力丧失和动眼神经麻痹,辐射诱发的脑肿瘤和肉瘤。目前提出的辐射诱导骨肉瘤的特征包括:发现与原发性肿瘤不同的组织学类型,在辐射束的路径内或附近发展,和至少3年的潜伏期。颅骨骨肉瘤的治疗包括完全手术切除,其次是全身化疗和/或放疗。放射性骨肉瘤的总体预后较差。诸如立体定向放射外科之类的较新技术可以减少辐射引起的恶性肿瘤的发生率。
    CONCLUSIONS: Cushing\'s disease is a rare disorder characterised by excessive cortisol production as a consequence of a corticotroph pituitary tumour. While the primary treatment is surgical resection, post-operative radiation therapy may be used in cases of ongoing inadequate hormonal control or residual or progressive structural disease. Despite improved outcomes, radiotherapy for pituitary tumours is associated with hypopituitarism, visual deficits and, rarely, secondary malignancies. We describe an unusual case of a 67-year-old female with presumed Cushing\'s disease diagnosed at the age of 37, treated with transsphenoidal resection of a pituitary tumour with post-operative external beam radiotherapy (EBRT), ketoconazole for steroidogenesis inhibition, and finally bilateral adrenalectomy for refractory disease. She presented 30 years after her treatment with a witnessed generalised tonic-clonic seizure. Radiological investigations confirmed an extracranial mass infiltrating through the temporal bone and into brain parenchyma. Due to recurrent generalised seizures, the patient was intubated and commenced on dexamethasone and anti-epileptic therapy. Resection of the tumour revealed a high-grade osteoblastic osteosarcoma. Unfortunately, the patient deteriorated in intensive care and suffered a fatal cardiac arrest following a likely aspiration event. We describe the risk factors, prevalence and treatment of radiation-induced osteosarcoma, an exceedingly rare and late complication of pituitary irradiation. To our knowledge, this is the longest reported latency period between pituitary irradiation and the development of an osteosarcoma of the skull.
    CONCLUSIONS: Cushing\'s disease is treated with transsphenoidal resection as first-line therapy, with radiotherapy used in cases of incomplete resection, disease recurrence or persistent hypercortisolism. The most common long-term adverse outcome of pituitary tumour irradiation is hypopituitarism occurring in 30-60% of patients at 10 years, and less commonly, vision loss and oculomotor nerve palsies, radiation-induced brain tumours and sarcomas. Currently proposed characteristics of radiation-induced osteosarcomas include: the finding of a different histological type to the primary tumour, has developed within or adjacent to the path of the radiation beam, and a latency period of at least 3 years. Treatment of osteosarcoma of the skull include complete surgical excision, followed by systemic chemotherapy and/or radiotherapy. Overall prognosis in radiation-induced sarcoma of bone is poor. Newer techniques such as stereotactic radiosurgery may reduce the incidence of radiation-induced malignancies.
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  • 文章类型: Journal Article
    结论:一名使用生长激素(GH)的53岁男子,合成代谢类固醇和睾酮(T)超过20年出现严重便秘和高钙血症。他有良性前列腺增生和肾结石,但没有明显的家族史。调查显示-(1)校正钙(参考范围)3.66mmol/L(2.2-2.6),磷酸盐1.39mmol/L(0.80-1.50),和PTH2pmol/L(1.6-7.2);(2)尿素21.9mmol/L(2.5-7.8),肌酐319mmol/L(58-110),eGFR18mL/min(>90),和尿液分析(蛋白质4+,葡萄糖4+,红细胞2+);(3)肌酸激酶7952U/L(40-320),抗Jo-1和Ro-52抗体阳性;(4)维生素D46nmol/L(30-50),维生素D329pmol/L(55-139),维生素A4.65mmol/L(1.10-2.60),和正常的蛋白质电泳;(5)正常的CT胸部,腹部和骨盆和肌肉MRI显示“炎症”,肌炎和钙化;(6)大腿肌肉活检显示活动性肌炎,慢性肌病改变和矿物质沉积,肾脏显示CD3和CD45阳性,局灶节段性肾小球硬化和高钙质肾小管改变;(7)超声心动图显示左心室肥大(可能是药物和肌炎),主动脉瓣狭窄,射血分数为44%,MRI证实这些患者可能患有右冠状动脉疾病。高钙血症可能是多因素-(1)肌炎后钙释放,横纹肌溶解和急性肾损伤;(2)可能的原发性甲状旁腺功能亢进(低但可检测的PTH);和(3)维生素A过多症。霉酚酸酯和泼尼松龙。在最初的生化和临床改善之后,他因高钙血症和肾脏恶化而多次入院.尽管有咨询,他仍继续服用GH和T,但突然死于心肌梗塞。
    结论:高钙血症的鉴别诊断有时是一个挑战。诊断可能需要多学科的专业知识和多种侵入性调查。高钙血症可能有几个不同的原因,虽然一个人通常占主导地位。即使使用有害药物,保持“身体形象”也可能是一种压倒性的情绪,尽管咨询了它们的危险。
    CONCLUSIONS: A 53-year-old man who used growth hormone (GH), anabolic steroids and testosterone (T) for over 20 years presented with severe constipation and hypercalcaemia. He had benign prostatic hyperplasia and renal stones but no significant family history. Investigations showed - (1) corrected calcium (reference range) 3.66 mmol/L (2.2-2.6), phosphate 1.39 mmol/L (0.80-1.50), and PTH 2 pmol/L (1.6-7.2); (2) urea 21.9 mmol/L (2.5-7.8), creatinine 319 mmol/L (58-110), eGFR 18 mL/min (>90), and urine analysis (protein 4+, glucose 4+, red cells 2+); (3) creatine kinase 7952 U/L (40-320), positive anti Jo-1, and Ro-52 antibodies; (4) vitamin D 46 nmol/L (30-50), vitamin D3 29 pmol/L (55-139), vitamin A 4.65 mmol/L (1.10-2.60), and normal protein electrophoresis; (5) normal CT thorax, abdomen and pelvis and MRI of muscles showed \'inflammation\', myositis and calcification; (6) biopsy of thigh muscles showed active myositis, chronic myopathic changes and mineral deposition and of the kidneys showed positive CD3 and CD45, focal segmental glomerulosclerosis and hypercalcaemic tubular changes; and (7) echocardiography showed left ventricular hypertrophy (likely medications and myositis contributing), aortic stenosis and an ejection fraction of 44%, and MRI confirmed these with possible right coronary artery disease. Hypercalcaemia was possibly multifactorial - (1) calcium release following myositis, rhabdomyolysis and acute kidney injury; (2) possible primary hyperparathyroidism (a low but detectable PTH); and (3) hypervitaminosis A. He was hydrated and given pamidronate, mycophenolate and prednisolone. Following initial biochemical and clinical improvement, he had multiple subsequent admissions for hypercalcaemia and renal deterioration. He continued taking GH and T despite counselling but died suddenly of a myocardial infarction.
    CONCLUSIONS: The differential diagnosis of hypercalcaemia is sometimes a challenge. Diagnosis may require multidisciplinary expertise and multiple and invasive investigations. There may be several disparate causes for hypercalcaemia, although one usually predominates. Maintaining \'body image\' even with the use of harmful drugs may be an overpowering emotion despite counselling about their dangers.
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  • 文章类型: Journal Article
    结论:我们报告了一例罕见的甲状腺髓样癌(MTC)和甲状腺乳头状癌(PTC)并发混合疾病的几个淋巴结(LN)转移患者,随后被诊断为透明细胞肾细胞癌(RCC)。一名56岁女性出现吞咽困难,发现左侧甲状腺结节和左侧上宫颈LN,超声特征可疑。细针穿刺活检(FNAB)显示左甲状腺结节中的PTC和左宫颈LN中的MTC。组织病理学显示多灶性PTC,3/21LN对转移性PTC呈阳性。左外侧颈解剖中的一个LN在同一节点内表现出MTC和PTC的特征。在右叶,注意到甲状腺外延伸的MTC病灶为0.3cm.鉴于降钙素持续升高,随访超声显示左侧4级LN异常。FNAB在细胞病理学本身上显示了PTC和MTC的特征。患者进行了重复的中央和左侧根治性颈清扫术,其中3/6LNs在中央颈的PTC阳性,而2/6LNs在左颈的混合PTC和MTC阳性。计算机断层扫描和全身闪烁显像没有远处转移的证据,然而,在右极间肾脏内发现了1.9x2.5厘米的增强质量。该病变高度可疑为RCC。手术病理显示2.5cm透明细胞RCC,Fuhrman2/4级,切缘阴性。继续观察她的三重恶性肿瘤的稳定成像。
    结论:甲状腺髓样-乳头状混合性肿瘤的特征在于同一病变内髓样和甲状腺乳头状癌的形态学和免疫组织化学特征。先前已经报道了这些癌的同时发生,但是同一淋巴结内的混合疾病很少见。混合髓样乳头状甲状腺癌的预后取决于髓样成分。因此,当PTC和MTC同时发生时,应优先考虑MTC的管理,其中包括甲状腺全切除术和中央区淋巴结清扫术。甲状腺癌患者,主要是PTC,显示出高于预期的RCC率。据我们所知,这是第一份描述MTC组合的报告,PTC,和单个患者的RCC。
    CONCLUSIONS: We report a rare case of concurrent medullary thyroid cancer (MTC) and papillary thyroid cancer (PTC) with intermixed disease in several of the lymph node (LN) metastases in a patient who was subsequently diagnosed with clear cell renal cell carcinoma (RCC). A 56 year old female presented with dysphagia and was found to have a left thyroid nodule and left superior cervical LN with suspicious sonographic features. Fine needle aspiration biopsy (FNAB) demonstrated PTC in the left thyroid nodule and MTC in the left cervical LN. Histopathology demonstrated multifocal PTC with 3/21 LNs positive for metastatic PTC. One LN in the left lateral neck dissection exhibited features of both MTC and PTC within the same node. In the right lobe, a 0.3 cm focus of MTC with extra-thyroidal extension was noted. Given persistent calcitonin elevation, a follow-up ultrasound displayed an abnormal left level 4 LN. FNAB showed features of both PTC and MTC on the cytopathology itself. The patient underwent repeat central and left radical neck dissection with 3/6 LNs positive for PTC in the central neck and 2/6 LNs positive for intermixed PTC and MTC in the left neck. There was no evidence of distant metastases on computed tomography and whole body scintigraphy, however a 1.9 x 2.5 cm enhancing mass within the right inter-polar kidney was discovered. This lesion was highly suspicious for RCC. Surgical pathology revealed a 2.5 cm clear cell RCC, Fuhrman grade 2/4, with negative surgical margins. She continues to be observed with stable imaging of her triple malignancies.
    CONCLUSIONS: Mixed medullary-papillary thyroid neoplasm is characterized by the presence of morphological and immunohistochemical features of both medullary and papillary thyroid cancers within the same lesion. Simultaneous occurrence of these carcinomas has been previously reported, but a mixed disease within the same lymph node is an infrequent phenomenon. Prognosis of mixed medullary-papillary thyroid carcinomas is determined by the medullary component. Therefore, when PTC and MTC occur concurrently, the priority should be given to the management of MTC, which involves total thyroidectomy and central lymph node dissection. Patients with thyroid cancer, predominantly PTC, have shown higher than expected rates of RCC. To our knowledge, this is the first report describing the combination of MTC, PTC, and RCC in a single patient.
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  • 文章类型: Journal Article
    结论:多发性内分泌转移是肺腺癌(LAC)的一种罕见但可能的并发症。垂体转移是一种罕见的疾病,临床表达较差。尿崩症(DI)是其最常见的症状。在这里,我们报告了LAC的垂体柄(PS)转移的原始病例,表现为中央DI,然后是双侧肾上腺转移的肾上腺功能不全(AI)。没有已知的原发性恶性肿瘤的证据。一名45岁的女性入院,其最初的临床表现是多尿和多饮。她完全无症状,没有咳嗽,没有体重减轻或厌食症。胸部X线检查正常。脑部MRI显示垂体柄(PS)厚。DI通过限水试验证实,并用加压素治疗,临床效果良好。全身性和感染性疾病的探索均为阴性。几个月后,急性AI导致在腹部CT上发现双侧肾上腺肿块。术后发现可疑肺根尖结节2.3cm。组织病理学肾上腺活检显示LAC。患者接受了全身化疗,并通过加压素和氢化可的松进行激素替代,以治疗内分泌衰竭。我们介绍了这种罕见的由LAC引起的与双侧肾上腺转移相关的转移性PS厚度。必须考虑对患有DI和茎厚度的患者进行肺癌和乳腺癌的筛查。作为LAC的诊断动机的多种内分泌故障是一种罕见但可能的情况。
    结论:肾上腺转移是肺腺癌的常见部位;垂体柄的转移受累仍然是罕见的,特别是作为诊断肺癌的主要演示文稿。垂体后叶和漏斗是转移的优先部位,因为它们直接从垂体动脉接受动脉血供应。由于垂体柄厚度而被诊断为尿崩症的患者应被视为转移,在排除经典的系统性和传染性疾病之后。由于内分泌症状与肺癌之间缺乏相关性,对于没有呼吸道症状的患者,内分泌转移性原发性肺腺癌的诊断通常会延迟。我们案例的主要独创性是同时诊断两种内分泌故障,因为它始于尿崩症,然后是急性肾上腺功能不全。
    CONCLUSIONS: Multiple endocrine metastases are a rare but possible complication of lung adenocarcinoma (LAC). Pituitary metastasis is a rare condition with poor clinical expression. Diabetes insipidus (DI) is its most common presenting symptom. Here we report an original case of a pituitary stalk (PS) metastasis from LAC presenting as central DI followed by adrenal insufficiency (AI) from bilateral adrenal metastasis, without known evidence of the primary malignancy. A 45-year-old woman whose first clinical manifestations were polyuria and polydipsia was admitted. She was completely asymptomatic with no cough, no weight loss or anorexia. Chest radiography was normal. Brain MRI showed a thick pituitary stalk (PS). DI was confirmed by water restriction test and treated with vasopressin with great clinical results. Explorations for systemic and infectious disease were negative. Few months later, an acute AI led to discovering bilateral adrenal mass on abdominal CT. A suspicious 2.3 cm apical lung nodule was found later. Histopathological adrenal biopsy revealed an LAC. The patient received systemic chemotherapy with hormonal replacement for endocrinological failures by both vasopressin and hydrocortisone. We present this rare case of metastatic PS thickness arising from LAC associated with bilateral adrenal metastasis. Screening of patients with DI and stalk thickness for lung and breast cancer must be considered. Multiple endocrine failures as a diagnostic motive of LAC is a rare but possible circumstance.
    CONCLUSIONS: Adrenal metastasis is a common location in lung adenocarcinoma; however, metastatic involvement of the pituitary stalk remains a rare occurrence, especially as a leading presentation to diagnose lung cancer. The posterior pituitary and the infundibulum are the preferential sites for metastases, as they receive direct arterial blood supply from hypophyseal arteries. Patients diagnosed with diabetes insipidus due to pituitary stalk thickness should be considered as a metastasis, after exclusion of the classical systemic and infectious diseases. The diagnosis of an endocrinological metastatic primary lung adenocarcinoma for patients without respiratory symptoms is often delayed due to a lack of correlation between endocrinological symptoms and lung cancer. The main originality of our case is the concomitant diagnosis of both endocrinological failures, as it was initiated with a diabetes insipidus and followed by an acute adrenal insufficiency.
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