A*******s 发帖数: 9638 | 1 如果通读Harrison’s principles of medicine, 疑难罕见病应该是成千上万。 不过
作为本人来说, 真真见识到的疑难病例却是屈指可数。 可能有一些已经忘了, 但记
住的肯定是石头上刻的, 一辈子忘不了。
我记得的第一例疑难病是Porphyria,当时是5年级实习, 一个乡下来的女孩长期腹痛
, 内科外科看了好多次, 最后确诊。 用心得安(propanolol)治疗后, 病人症状就
缓解出了。
分享你所见过的疑难罕见病, 包子恭候。
http://www.mitbbs.com/article_t/Medicalpractice/42571.html |
b******a 发帖数: 704 | 2 一例发热待查。等我2个月消化科转完了,都没有找出原因。 就记得消化科主任,德高
望重的,开始滔滔不绝,后来看见我们就支支吾吾,用英语查房了。 详情要穿越回去
才记得清了。 |
r*********s 发帖数: 1027 | 3 有个病人腹腔广泛淋巴结肿大,有时候大些有时候小点,但从来没完全消退。开始有发
热,后来也不怎么发热了。传染科和肿瘤科都会诊过,随访了多年,到现在也不知道什
么病。
【在 A*******s 的大作中提到】![](/moin_static193/solenoid/img/up.png) : 如果通读Harrison’s principles of medicine, 疑难罕见病应该是成千上万。 不过 : 作为本人来说, 真真见识到的疑难病例却是屈指可数。 可能有一些已经忘了, 但记 : 住的肯定是石头上刻的, 一辈子忘不了。 : 我记得的第一例疑难病是Porphyria,当时是5年级实习, 一个乡下来的女孩长期腹痛 : , 内科外科看了好多次, 最后确诊。 用心得安(propanolol)治疗后, 病人症状就 : 缓解出了。 : 分享你所见过的疑难罕见病, 包子恭候。 : http://www.mitbbs.com/article_t/Medicalpractice/42571.html
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A*******s 发帖数: 9638 | 4 可能大家有误解, 我说的是确诊的疑难病例, 不是没有诊断的疑难病例。 所有病都
应该有解,没有诊断的千万不要放弃。
FOU非常常见, 但不是诊断。 三大原因:infection, inflammation和malignancy。
我觉得connective tissue disease最难诊断。 rainingcats的病例也不外乎这些,
觉得最可能就是connective tissue disease,可以有remission和relapse, 应该让
reumatology看一下。 |
y******a 发帖数: 590 | 5 我有个年轻病人,血清阴性多关节炎4年,快速进展的二尖瓣狭窄加主动脉瓣狭窄,3年
前换了金属瓣,反复发作的腹痛,内镜检查和影像学检查都正常,外加皮疹。在其他地
方看了四年,手术是在UPenn做的,来我们这里一个多月,我给诊断了
hypocomplementic uriticarial vasculitis,哇哈哈。不是我最疑难的病例,不过全
部的work up都是我给order的,下次再来就要给治疗了,很激动 |
r*********s 发帖数: 1027 | 6 这个病人做过风湿科检查,都是阴性的。淋巴结活检两次,反应性增生。他从南美移民
过来,怀疑是什么不知名的病原感染,一直随访着。
这个病例不符合要求,那换一个。中年女性,起初是双手局部湿疹样改变,按湿疹治疗
,却无法控制,扩展到整个双手严重的皮炎,考虑过感染,银屑病或肿瘤。活检了好多
次都无法确诊,一直到第八次活检,才明确是皮肤T细胞淋巴癌。用Cellcept以后明显
好转,但还没有完全恢复。
。
【在 A*******s 的大作中提到】![](/moin_static193/solenoid/img/up.png) : 可能大家有误解, 我说的是确诊的疑难病例, 不是没有诊断的疑难病例。 所有病都 : 应该有解,没有诊断的千万不要放弃。 : FOU非常常见, 但不是诊断。 三大原因:infection, inflammation和malignancy。 : 我觉得connective tissue disease最难诊断。 rainingcats的病例也不外乎这些, : 觉得最可能就是connective tissue disease,可以有remission和relapse, 应该让 : reumatology看一下。
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A*******s 发帖数: 9638 | 7 Baozi!
有个问题, 这些病人必须有SLE吗?
http://www.ncbi.nlm.nih.gov/pubmed/7837968
【在 y******a 的大作中提到】![](/moin_static193/solenoid/img/up.png) : 我有个年轻病人,血清阴性多关节炎4年,快速进展的二尖瓣狭窄加主动脉瓣狭窄,3年 : 前换了金属瓣,反复发作的腹痛,内镜检查和影像学检查都正常,外加皮疹。在其他地 : 方看了四年,手术是在UPenn做的,来我们这里一个多月,我给诊断了 : hypocomplementic uriticarial vasculitis,哇哈哈。不是我最疑难的病例,不过全 : 部的work up都是我给order的,下次再来就要给治疗了,很激动
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A*******s 发帖数: 9638 | 8 Interesting。
不是太懂皮肤病理, 前7次的病理医生没有看出来有没有liability?
dermatitis是lymphoma的临床表现还是不同的病同时存在?
【在 r*********s 的大作中提到】![](/moin_static193/solenoid/img/up.png) : 这个病人做过风湿科检查,都是阴性的。淋巴结活检两次,反应性增生。他从南美移民 : 过来,怀疑是什么不知名的病原感染,一直随访着。 : 这个病例不符合要求,那换一个。中年女性,起初是双手局部湿疹样改变,按湿疹治疗 : ,却无法控制,扩展到整个双手严重的皮炎,考虑过感染,银屑病或肿瘤。活检了好多 : 次都无法确诊,一直到第八次活检,才明确是皮肤T细胞淋巴癌。用Cellcept以后明显 : 好转,但还没有完全恢复。 : : 。
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y******a 发帖数: 590 | 9 Good question! HUVS and HUV are different entities. HUVS can be caused by
lupus. 我那个病人,所有的血清学检查都是阴性的(所有你能想到的, commercially
available的抗体),除了关节炎没有lupus的11条表现,没办法给lupus的诊断。他还
做了好多次淋巴结和骨髓的穿刺活检,血液系统肿瘤也排除了。
Sometimes we do give patients a diagnosis of "evolving autoimmune process",
if it smells like autoimmune process. 但是这个病人,我感觉不是adaptive
immune system的问题。
不好意思,主要是考虑到HIPPA,不能再讨论了。
【在 A*******s 的大作中提到】![](/moin_static193/solenoid/img/up.png) : Baozi! : 有个问题, 这些病人必须有SLE吗? : http://www.ncbi.nlm.nih.gov/pubmed/7837968
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y******a 发帖数: 590 | 10 我理解是CTCH诊断不是那么容易的,Tcell lymphoma有时候不一定是monoclonal T
cell
迟大给解释解释吧
【在 A*******s 的大作中提到】![](/moin_static193/solenoid/img/up.png) : Interesting。 : 不是太懂皮肤病理, 前7次的病理医生没有看出来有没有liability? : dermatitis是lymphoma的临床表现还是不同的病同时存在?
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A*******s 发帖数: 9638 | 11 嗯,那HUV会不会是SLE的早期表现呢?
by
commercially
,
【在 y******a 的大作中提到】![](/moin_static193/solenoid/img/up.png) : Good question! HUVS and HUV are different entities. HUVS can be caused by : lupus. 我那个病人,所有的血清学检查都是阴性的(所有你能想到的, commercially : available的抗体),除了关节炎没有lupus的11条表现,没办法给lupus的诊断。他还 : 做了好多次淋巴结和骨髓的穿刺活检,血液系统肿瘤也排除了。 : Sometimes we do give patients a diagnosis of "evolving autoimmune process", : if it smells like autoimmune process. 但是这个病人,我感觉不是adaptive : immune system的问题。 : 不好意思,主要是考虑到HIPPA,不能再讨论了。
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y******a 发帖数: 590 | 12 it's very hard to argue if all serology tests are negative.
【在 A*******s 的大作中提到】![](/moin_static193/solenoid/img/up.png) : 嗯,那HUV会不会是SLE的早期表现呢? : : by : commercially : ,
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A*******s 发帖数: 9638 | 13 maybe in a couple of years?
【在 y******a 的大作中提到】![](/moin_static193/solenoid/img/up.png) : it's very hard to argue if all serology tests are negative.
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f*****w 发帖数: 1451 | 14 现在就有一个,心肌炎病史, cardiac arrest被送进来,没有人知道发生了什么,病
人一直昏迷不醒,来得时候就发现身上有一些bruise,左手手臂当晚就从手指开始便青
紫,慢慢上延,紧急停掉hypothermia protocol,喊外科,compartment syndrome,做了
切开。右手手臂也是一大片青紫,上面还有很多水泡,怀疑是cellulitis,又脚脚趾第
二天开始也出现cynosis.
大腿内侧两小片bruise。
怀疑是cocaine induced skin necrosis, 但是UDS negative,. |
r*********s 发帖数: 1027 | 15 没有liability。CTCL的诊断蛮困难的,做过一个调查,不同的病理医生之间,
consistency 60%吧。我们这里,如果怀疑CTCL的病理切片,要送一个3-5名病理医生的
panel,让他们打分,1分是完全排除,5分是非常肯定,把几个医生的评分综合起来下
诊断。遇到不典型的表现,就要反复活检,不过这个病人是做的最多的。
【在 A*******s 的大作中提到】![](/moin_static193/solenoid/img/up.png) : Interesting。 : 不是太懂皮肤病理, 前7次的病理医生没有看出来有没有liability? : dermatitis是lymphoma的临床表现还是不同的病同时存在?
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r*********s 发帖数: 1027 | 16 ANA 阴性是不是可以排除SLE?我看过一篇文章说以前ANA的敏感性95%。但是后来检测
技术更新,重新测了一遍原来的样品,是100%阳性。用药以后ANA会转阴,但是在SLE病
变活动期,一定是阳性的。
【在 y******a 的大作中提到】![](/moin_static193/solenoid/img/up.png) : it's very hard to argue if all serology tests are negative.
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A*******s 发帖数: 9638 | 17 可惜没有最终诊断?
【在 f*****w 的大作中提到】![](/moin_static193/solenoid/img/up.png) : 现在就有一个,心肌炎病史, cardiac arrest被送进来,没有人知道发生了什么,病 : 人一直昏迷不醒,来得时候就发现身上有一些bruise,左手手臂当晚就从手指开始便青 : 紫,慢慢上延,紧急停掉hypothermia protocol,喊外科,compartment syndrome,做了 : 切开。右手手臂也是一大片青紫,上面还有很多水泡,怀疑是cellulitis,又脚脚趾第 : 二天开始也出现cynosis. : 大腿内侧两小片bruise。 : 怀疑是cocaine induced skin necrosis, 但是UDS negative,.
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g******1 发帖数: 45 | 18 I made a diagnosis of cutaneous blastic plasmacytoid dendritic neoplasm a
couple of weeks ago. So far, there are less than 100 cases reported. |
b******a 发帖数: 704 | 19 Would you please elaborate that case a little more? Why did you suspect it
is cutaneous blastic plasmacytoid dendritic neoplasm? Thanks!
【在 g******1 的大作中提到】![](/moin_static193/solenoid/img/up.png) : I made a diagnosis of cutaneous blastic plasmacytoid dendritic neoplasm a : couple of weeks ago. So far, there are less than 100 cases reported.
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g******1 发帖数: 45 | 20 I am a dermatopathologist. The patient has several erythematous plaques and
the clinical impression is cutaneous lymphoma. I originally thought it
might be a leukemia cutis. However, the tumor cells don't express blastic
markers. In stead, they express CD56 and CD123, which are the diagnostic
markers for this neoplasm. A bone marrow biopsy confirmed this diagnosis.
This is a bad disease. The medium survival time for these patients is
approximately 12-14 months. This probably the first and the last case of my
life. Very excited. |
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b******a 发帖数: 704 | 21 Thank you very much for sharing! Feel sorry for the patient.
It is interesting to know that the symptom is initially confined to the skin
, not the other sites.
http://www.medicaljournals.se/acta/content/?doi=10.2340/0001555
http://www.pathologyoutlines.com/topic/lymphomanonBblasticplasm
and
my
【在 g******1 的大作中提到】![](/moin_static193/solenoid/img/up.png) : I am a dermatopathologist. The patient has several erythematous plaques and : the clinical impression is cutaneous lymphoma. I originally thought it : might be a leukemia cutis. However, the tumor cells don't express blastic : markers. In stead, they express CD56 and CD123, which are the diagnostic : markers for this neoplasm. A bone marrow biopsy confirmed this diagnosis. : This is a bad disease. The medium survival time for these patients is : approximately 12-14 months. This probably the first and the last case of my : life. Very excited.
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A*******s 发帖数: 9638 | 22 Congradulations and you deserve the Baozi!
and
my
【在 g******1 的大作中提到】![](/moin_static193/solenoid/img/up.png) : I am a dermatopathologist. The patient has several erythematous plaques and : the clinical impression is cutaneous lymphoma. I originally thought it : might be a leukemia cutis. However, the tumor cells don't express blastic : markers. In stead, they express CD56 and CD123, which are the diagnostic : markers for this neoplasm. A bone marrow biopsy confirmed this diagnosis. : This is a bad disease. The medium survival time for these patients is : approximately 12-14 months. This probably the first and the last case of my : life. Very excited.
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A*******s 发帖数: 9638 | 23 kobejordan看到这个可能要激动一番了:一个年轻妇女一个月前脑出血, 昏迷几天后
终于醒来, workup是阴性, 出院时没有明确出血原因。 在门诊,我一眼就看到了
livedo reticularis。
Yes, Sneddon’s syndrome。
I'd like to thank Kobejordan who refreshed my mind recently in his post. |
s******v 发帖数: 477 | 24 We have an unresolved "疑难病例"( note exactly my patient, but I read the
whole chart)
Middle age female inmate transferred to our facility for chronic respiratory
failure. Patient first was intubated, now on trach-collar.
Patient is conscious, answers yes/no by opening mouth but no voice. I assume
her sensation is intact because she did complain pain in her legs. She has
signs of brain stem lesion: moves upper limbs, but not lower limbs, she also
has internuclear ophthalmoplegia. However, MRI twice were negative. She
also has persistent bradycardia around 115/min.
PMH: HTN.
The H&P is not very great which did not mention how the chronic respiratory
failure started.
I am puzzled by the physical presentation of brainstem lesion, but negative
MRI. What's the cause? |
A*******s 发帖数: 9638 | 25 Can you tell me how her eyes move at exam? She possibly had tachycardia at
115, right?
I am not convinced she has a brain stem lesion based on your exam. Rather I
believe she has a neuromuscular disorder. I'll tell you why after your eye
exam.
respiratory
assume
has
also
【在 s******v 的大作中提到】![](/moin_static193/solenoid/img/up.png) : We have an unresolved "疑难病例"( note exactly my patient, but I read the : whole chart) : Middle age female inmate transferred to our facility for chronic respiratory : failure. Patient first was intubated, now on trach-collar. : Patient is conscious, answers yes/no by opening mouth but no voice. I assume : her sensation is intact because she did complain pain in her legs. She has : signs of brain stem lesion: moves upper limbs, but not lower limbs, she also : has internuclear ophthalmoplegia. However, MRI twice were negative. She : also has persistent bradycardia around 115/min. : PMH: HTN.
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s******v 发帖数: 477 | 26 We have one unresolved "疑难病例"( note exactly my patient, but I read the
whole chart). Middle age female inmate transferred to our facility for
chronic respiratory failure. Patient first was intubated, now on trach-
collar. Patient is conscious, answers yes/no by opening mouth but no voice.
I assume her sensation is intact because she did complain pain in her legs.
She has signs of brain stem lesion: moves upper limbs, but not lower limbs,
she also has internuclear ophthalmoplegia. However, MRI twice were negative.
She also has persistent bradycardia around 115/min.
PMH: HTN.
The H&P is not very great which did not mention how the chronic respiratory
failure started.
I am puzzled by the physical presentation of brainstem lesion, but negative
MRI. What's the cause? |
g***l 发帖数: 36 | 27 1) moyamoya disease
young patient (40s) with stroke, I was very sure he has moyamoya when I
reviewed his CTA
2) CNS intravascular lymphoma
patients can present any symptoms, infarct, hemorrhage, seizure, memory loss
, mental status change |