Rasmussen综合征3例临床病理观察

目的探讨Rasmussen综合征(RS)的临床、影像学特征和病理诊断要点。方法复习3例Rasmussen综合征的临床及影像学资料,镜下观察其病理形态特征和免疫表型,并探讨其临床和病理诊断标准。结果 3例中女性2例,男性1例,年龄分别为5岁、9岁和27岁,临床表现为难治性癫痫和不同程度偏瘫。MRI示右侧大脑半球显著萎缩并脑室扩大。镜下见皮质内不同程度神经元丢失,胶质细胞显著增生;可见小胶质细胞激活及胶质结节形成,蛛网膜下腔及脑实质内不同程度的淋巴细胞浸润,和/或血管周围淋巴细胞袖套形成;部分皮质内可见钙化、坏死及空洞形成;未见病毒包涵体。免疫组化示皮质内Neu-N阳性神经元显著减少,增生的胶质细胞GFAP(+),浸润的淋巴细胞CD3、CD8和granzyme B(+);而B淋巴细胞、巨噬细胞和浆细胞标记(-)。结论 Rasmussen综合征少见,其正确诊断需结合临床、影像及病理形态综合分析。癫痫持续状态、单侧大脑半球萎缩以及病毒性脑炎样的病理改变是重要的诊断线索。     

劳蒙毕综合征并发尿毒症脑病的护理

<正>劳蒙毕综合征(Laurence Moon-Biedl syndrome)是一种以智力低下、肥胖、性幼稚、多指(趾)畸形、色素性视网膜炎为临床特征的罕见性先天性常染色体隐性遗传性疾病[1],又称性幼稚-多指畸形综合征。1866年,Laurence和Moon首次报道本综合征,Barder(1920年)和Biedl(1922年)对其临床特征作了进一步阐述,故被命名为劳蒙毕综合征[2]。男女患病之比为     

功能性色素性肾上腺皮质腺瘤并出血性休克一例报告

功能性色素性肾上腺皮质腺瘤是肾上腺皮质腺瘤的一种,在临床上是一种罕见良性肿瘤,因该瘤细胞胞质内含有丰富的褐色色素而得名,肉眼呈棕黑色,故又称为黑色腺瘤。我院收治1例左肾上腺功能性色素性皮质腺瘤并出血性休克,现将其临床及病理特点报告如下。     

1例顿挫型劳-蒙-毕综合征患者的护理

正Laurence-Moon-Biedl综合征属于一种罕见病,病因不明,患病率0.087‰[1],又名色素性视网膜炎-多指(趾)畸形-性发育不全综合征,为常染色体隐性遗传疾病,主要表现为肥胖、智能低下、性器官发育不全、视网膜色素变性、多指(趾)或并(趾)畸形[2]。在临床通常根据上述不同症状和体征分5型:(1)完全型:存在上述5个基本临床表现;(2)不完全型:缺少1     

胸腺神经内分泌癌合并异位ACTH综合征及肝硬化1例临床护理

异位ACTH综合征(EAS)是垂体以外肿瘤组织分泌过量有生物活性的促肾上腺皮质激素(ACTH),刺激肾上腺皮质增生,产生过量皮质类固醇引起的临床综合征[1]。胸腺神经内分泌癌(TNC)是原发于胸腺组织中具有神经内分泌功能细胞的一种恶性肿瘤,临床罕见,预后与肿瘤类型、临床分期及有     

附睾乳头状囊腺瘤及von Hippel-Lindau综合征临床病理分析

目的探讨附睾乳头状囊腺瘤及vonHippel-Lindau综合征的临床病理特点。方法对5例附睾乳头状囊腺瘤和2例vonHippel-Lindau综合征进行临床病理学观察及免疫组织化学分析。结果附睾乳头状囊腺瘤单侧2例,双侧3例,其中2例伴vonHippel-Lindau(VHL)综合征。附睾乳头状囊腺瘤有3种基本结构:①排列呈乳头状结构,有纤维血管轴心,被覆的上皮细胞胞质透明,有空泡;②扩张的导管和微囊有类似乳头的上皮细胞被覆。③间质有炎细胞浸润。肾主要是透明细胞癌,与附睾乳头状囊腺瘤形态有一定的相似性。结论附睾乳头状囊腺瘤是一种少见的良性肿瘤,可以单侧和双侧发生,尤其是双侧时,常伴发VHL综合征。当附睾乳头状囊腺瘤合并有肾细胞癌时,不要误诊为肾细胞癌的附睾转移,应想到VHL的可能。     

格林——巴利综合征患者血清皮质醇的检测

目前,格林——巴利综合征患者可否应用皮质类固醇激素治疗仍有争议。本文应用放射免疫分析(RIA)检测35例格林——巴利综合征患者血清中皮质醇水平,以探讨其临床意义。 1 临床资料 1.1 一般资料:35例经临床确诊的格林——巴利综合征住院患者,年龄5～28岁。根据临床治疗是     

R-S细胞的免疫表型：19例塑料包埋何杰金氏病的研究

作者用塑料包埋19例何杰金氏病(结节硬化NS∶16例;混合细胞MC∶2例;淋巴细胞消减LD∶1例)的组织,以下列单抗进行染色:B细胞标记:(CD19.22);T细胞标记:(CD3、5、2、4、8、1,Leu-7,UCHL-1);其他标记:(CD45、15、25、30、R4/23、EBM-11及ki-67).结果:     

可逆性后部白质脑病综合征CT和MRI影像学特点分析

目的:探讨可逆性后部白质脑病综合征(reversible posterior leukoencephalopathy syndrome,RPLS)CT和MRI影像学特点.方法:回顾性分析9例RPLS患者的临床及CT和MRI影像学资料.结果:MRI显示6例双侧对称性枕叶白质受累,其中4例双侧额叶顶叶白质受累,1例同时累及中脑和丘脑,1例累及尾状核头;病灶形态不规则,特征表现为皮质及皮质下白质脑回样异常信号.CT显示枕叶低密度影,其中2例广泛脑白质水肿.治疗5～20 d复查,6例病灶部分消失,1例完全消失,2例出现转化灶.结论:结合临床特点和后部脑白质损害为主的影像学表现,有助于RPLS的诊断.     

推拿治疗婴幼儿感染后脾虚综合征42例临床疗效观察

目的 :探讨推拿治疗婴幼儿感染后脾虚综合征的临床疗效。方法 :对 42例婴幼儿感染后脾虚综合征采用推拿治疗 ,并设颠茄合剂与氯丙嗪治疗的 1 5例为对照组。结果 :治疗组 42例 ,临床显效 2 2例 (占 5 2 .4% ) ,有效率88.1 % ;对照组 1 5例 ,临床显效 4例 (占 2 6.7% ) ,有效率 5 3 .3 %。治疗组疗效明显优于对照组 (P <0 .0 1 )。结论 :推拿治疗婴幼儿感染后脾虚综合征临床疗效满意。     

An unusual cause of Cushing's syndrome: primary pigmented nodular adrenal dysplasia

We report a case of Cushing's syndrome due to primary pigmented nodular adrenal dysplasia (PPNAD) and discuss the diagnostic process and management of this rare case. The diagnosis of PPNAD is discussed in the context of other causes of Cushing's syndrome. Eighty-five per cent of cases of Cushing's syndrome are due to a pituitary corticotrophic tumour (Cushing's disease). Rarer causes include cortisol secreting adrenal adenoma and ectopic ACTH secretion. In the routine investigation of Cushing's disease it is not unusual to find bilateral adrenal nodules on the CT scan. We present a case of Cushing's syndrome in which this radiographic finding was present and yet the biochemical diagnosis was one of ACTH independent disease. Histology revealed PPNAD.     

Prim?re pigmentierte nodul?re adrenokortikale Dysplasie (PPNAD) im Rahmen des Carney-Komplexes als Ursache eines Cushing-Syndroms

Zusammenfassung Hintergrund: Die primäre pigmentierte, adrenokortikale Dysplasie (PPNAD) ist eine seltene Erkrankung der Nebennieren, die gehäft bei Patienten mit dem Carney-Komplex auftritt. Der Carney-Komplex ist ein autosomal-dominantes Neoplasiesyndrom, das vor allem durch Lentigines, Myxome und Nebennierentumoren charakterisiert ist. Fallbericht: Eine 37jährige Frau entwickelte nach mehreren Phasen von Gewichtszunahme/Depression und Gewichtsabnahme/Manie als Anzeichen für einen zyklischen Hyperkortisolismus ein manifestes Cushing-Syndrom, das mit bilateraler Adrenalektomie behandelt wurde. Die Patientin hatte eine PPNAD im Rahmen eines Carney-Komplexes. Schlußfolgerung: Eine PPNAD kann als 1. präklinisches Cushing-Syndrom mit aufgehobenem Cortisoltagesrhythmus, 2. als Ursache eines zyklischen Hyperkortisolismus und 3. als manifestes Cushing-Syndrom auftreten. Ein präklinischer und zyklischer Hyperkortisolismus bei PPNAD kann mit dem sechstägigen Liddle-Test, der typischerweise eine paradoxe Cortisolstimulation nach Dexamethasongabe zeigt, diagnostiziert werden. Die Behandlung der Wahl stellt die bilaterale Adrenalektomie dar, um die Langzeitfolgen des Hyperkortisolismus zu bermeiden. Abstract Background: Primary pigmented adrenocortical dysplasia (PPNAD) represents a rare disorder of the adrenal glands and frequently occurs in patients with the so-called Carney complex. Carney complex is an autosomal dominant neoplasia syndrome including skin and mucosal lentigines, myxomas, and PPNAD. Case Report: A 37-year-old women suffered from several episodes of weight gain/depression and weight loss/mania indicating cyclic hypercortisolism. Finally, she developed a full-blown Cushing's syndrome (CS) treated by bilateral adrenalectomy. She had PPNAD in the setting of Carney complex. Conclusion: PPNAD may lead to different clinical manifestations: 1. sub-clinical hypercortisolism, 2. intermittent hypercortisolemia, and 3. full-blown CS. It can be diagnosed with the 6-day Liddle test that typically shows a paradoxical stimulation of cortisol secretion after dexamethasone administration. The treatment of choice for PPNAD is bilateral adrenalectomy in order to prevent devastating long-term effects of hypercortisolism.     

ACTH-independant macronodular adrenal hyperplasia: imaging findings of a rare condition

Endogenous Cushing’s syndrome is a relatively rare disease. Most cases being ACTH-dependent, ACTH-independent Cushing’s syndrome (AICS) is an even rarer condition [15%–20%]. In more than 95% cases the cause of AICS is unilateral adrenal enlargement caused by adenoma or carcinoma. Bilateral adrenal disease is caused by primary pigmented nodular adrenal dysplasia (PPNAD) and ACTH-independent macro nodular hyperplasia (AIMAH). Only few case reports of the latter condition exist in the radiology literature, PPNAD being the commoner of two as the cause for AICS.     

Cushing's disease treated by total adrenalectomy: long-term observations of 43 patients

Forty-three patients were treated by total adrenalectomy for pituitary-dependent Cushing's disease. The median period of observation was 10 years (range one to 20 years). Thirty-eight patients (88 per cent) had rapid and lasting remissions. Of the 38 in remission, 21 became pigmented but without pituitary enlargement, 11 became pigmented with evidence of further pituitary expansion (Nelson's syndrome) and six neither became pigmented nor showed pituitary expansion. Pituitary expansion was associated with high plasma ACTH values, and treatment of pituitary tumours by surgery or radiotherapy gave poor results. However, when compared with alternative methods of treatment, total adrenalectomy for Cushing's disease is still satisfactory for many patients, despite advances in pituitary surgery, and has advantages over 'medical adrenalectomy' with drugs.     

Decreased dehydroepiandrosterone sulfate in pigmented nodular adrenal dysplasia

Previous reports on patients with endogenous Cushing's syndrome describe low concentrations of the adrenal androgen dehydroepiandrosterone sulfate (DHEA-S) in adrenal adenoma and in a case of feminizing macronodular hyperplasia. Here we present hormonal data from two adult sisters with Cushing's syndrome as a result of pigmented nodular adrenal dysplasia. Corticotropin concentrations were in the mid-normal range, cortisol production was unaffected by administration of dexamethasone (8 mg/24 h), and baseline concentrations of DHEA-S were less than 0.5 mumol/L. A low concentration of DHEA-S in these and other previously reported patients with Cushing's syndrome correctly predicts the results of dynamic testing. Decreased DHEA-S in a patient with endogenous Cushing's syndrome can be ascertained by assay of a single sample and should prompt consideration of the diagnosis of autonomous bilateral nodular disease as well as adrenal adenoma.     

腹腔镜下手术治疗肾上腺皮质醇增多症18例护理配合

目的:探讨腹腔镜下手术治疗肾上腺皮质醇增多症患者的护理配合方法.方法:对18例肾上腺皮质醇增多症患者行手术治疗,并给予密切护理配合.结果:本组均于腹腔镜下行手术治疗,经腹腔途径3例,经后腹腔途径15例(其中2例中转开放手术).术后1例出现肾上腺危象,经及时处理,恢复良好;其余患者无严重并发症发生.随访12～30个月,复查B超、CT未见复发.结论:充分的术前准备、默契的术中配合是手术顺利进行及患者早日康复的关键.     

Psychiatric aspects of Cushing's syndrome

Patients with Cushing's syndrome were studied (n=209, 78% females). Control patients had pituitary adenomas secreting growth hormone or prolactin. Age at diagnosis of Cushing's syndrome was 8-74 (mean 39) years. Duration of symptoms was 0.2-9 (median 2.0) years. Adverse life events within the 2 years preceding the onset of Cushing's syndrome were not significantly commoner than in controls. Depressive illnesses were associated with the presence of adverse life events (p&lt;0.001). Depressive illness was more common in females (p&lt;0.01). There were no significant differences in the severity of depression in the different types of Cushing's syndrome. Pathological anxiety had been diagnosed in 26 patients (12%), mania or hypomania in six patients (3%) and confusion in three patients (1%). Psychotic illness had been diagnosed in 16 patients (8%) and was more common in adrenal carcinomas (p&lt;0.01). Significant psychiatric illness, usually depressive preceded the onset of all symptoms and signs of Cushing's syndrome in 25 patients (12%); 23 of these developed pituitary Cushing's disease, and two adrenal adenomas. When Cushing's syndrome was diagnosed, significant psychiatric illness, usually depression, was present or had been a feature of Cushing's syndrome in 120 (57%) patients.      

Corticotropin-releasing hormone, proopiomelanocortin, and glucocorticoid receptor gene expression in adrenocorticotropin-producing tumors in vitro.

To differentiate between ectopic ACTH syndrome and Cushing's disease, gene expression of corticotropin-releasing hormone (CRH), proopiomelanocortin (POMC), and glucocorticoid receptor was examined in 10 pituitary adenomas (Cushing's disease) and in 10 ectopic ACTH-producing tumors. CRH increased plasma ACTH levels in all patients with Cushing's disease and in five patients with ectopic ACTH syndrome whose tumors contained CRH and CRH mRNA. In five CRH nonresponders, CRH was not detected in tumors that contained no CRH mRNA or that contained only long-size CRH mRNA. Dexamethasone (Dex) decreased plasma ACTH levels in all patients with Cushing's disease and in three patients with ectopic ACTH-producing bronchial carcinoid. These tumors contained glucocorticoid receptor mRNA. CRH increased and Dex decreased ACTH release and POMC mRNA levels in pituitary adenoma and bronchial carcinoid cells. PMA increased POMC mRNA levels only in carcinoid cells. These results reveal characteristics of ectopic ACTH-producing tumors: long-size CRH mRNA and PMA-induced POMC gene expression. In addition, there are two ectopic ACTH syndrome subtypes: tumors containing ACTH with CRH (CRH responder) and tumors without CRH. Dex decreases ACTH release and POMC mRNA levels in some bronchial carcinoids. Therefore, CRH and Dex tests have limited usefulness in differentiating between Cushing's disease and ectopic ACTH syndrome.     

皮质醇增多症患者53例的临床护理问题分析

目的 分析皮质醇增多症患者存在的护理问题，为临床提供有效的护理措施。方法 通过病历资料，分析53例皮质醇增多症患者临床护理中存在的护理问题。结果 53例皮质醇增多症患者体象失调50例、精神神经症状39例、自杀死亡1例，患者合并高血压41例、低血钾22例、高血钠4例、感染22例、骨质疏松10例、骨折5例、皮下瘀斑15例。结论 对有自伤危险的患者采取防护措施；自我形象紊乱患者多给予关心，进行健康指导；合并严重高血压患者要防止脑血管意外；患者易合并严重感染而主观感觉不明显，应重视预防感染；做好临床低血钾症的观察护理；患者容易发生骨折和皮下瘀斑，应防止摔跤和碰撞，做好静脉采血指导；高血钠患者体液过多，应限制钠、水摄入。     

Hepatotoxicity of a synthetic cortisol antagonist: OP'DDD (mitotane)

The adrenolytic agent, Op'DDD (Mitotane) has been employed for almost 50 years for treatment of Cushing's syndrome. Despite clinical observations of elevation of hepatic enzymes encountered in patients taking the drug, there are few published data regarding the frequency, time course and factors that might influence hepatic toxicity of Mitotane. We analysed 10 patients consecutively treated with Mitotane for Cushing's syndrome. We measured hepatic transaminase and gamma glutamyl transferase before, during and after treatment. The study population included 6 women and 4 males, with a mean age of 41 years. Seven patients presented Cushing's disease while two had adrenal tumours and one had an undetermined origin of Cushing's syndrome. After a progressive increase, patients were being treated with a mean dosage of 9 g per day. All patients had elevation of either GGT or ALAT and all but one had elevation of transaminase (the maximum increase was sixfold the basal value). The only variable correlated with hepatic increase was the body mass index. In contrast, the severity of the disease, alcohol intake, and other biological characteristics were not correlated with transaminase elevations. We conclude that transaminase increase is encountered in the vast majority of patients treated with Mitotane. Levels at which the drug should be withdrawn remain to be established.