l*****e
发帖数: 261 | 1 我哥哥家的小宝宝，今年一月的时候得了肺炎，住了几天院，验血时发现肌酸激酶
15000unit/L,是正常值的750多倍（正常值是25~200）。后来又验了三次血，差不多每
半个月验一次，肌酸激酶值分别是12000,9000,12000。因为怀疑是心肌炎，所以又做了
心脏彩超和心电图，
都是正常的，基本上排除是心肌炎的可能。另外肌酸激酶同功酶的比例在3%，也算正常。
现在肺炎好了，小宝宝很活泼，没有明显症状，就是这个肌酸激酶值一直偏高不下，请
有经验的帮忙诊断一下，谢谢啦！ |
l*****e
发帖数: 261 | 2 附上第四次检查的报告
常。
【在 l*****e 的大作中提到】
: 我哥哥家的小宝宝，今年一月的时候得了肺炎，住了几天院，验血时发现肌酸激酶
: 15000unit/L,是正常值的750多倍（正常值是25~200）。后来又验了三次血，差不多每
: 半个月验一次，肌酸激酶值分别是12000,9000,12000。因为怀疑是心肌炎，所以又做了
: 心脏彩超和心电图，
: 都是正常的，基本上排除是心肌炎的可能。另外肌酸激酶同功酶的比例在3%，也算正常。
: 现在肺炎好了，小宝宝很活泼，没有明显症状，就是这个肌酸激酶值一直偏高不下，请
: 有经验的帮忙诊断一下，谢谢啦！
|
l*h
发帖数: 4124 | 3 the ratio of CK to CK-MB says this is a problem of the skeleton muscles. the
"doctor" needs to have some basic training.
【在 l*****e 的大作中提到】
: 附上第四次检查的报告
:
: 常。
|
l*h
发帖数: 4124 | 4 clarification: the elevated enzyme levels are from the skeleton muscles.
this could be a primary skeleton muscle disorder. the skeleton muscle
presentation could also be secondary to other diseases.
the
【在 l*h 的大作中提到】
: the ratio of CK to CK-MB says this is a problem of the skeleton muscles. the
: "doctor" needs to have some basic training.
|
l*****e
发帖数: 261 | 5 谢谢大牛指点！小宝宝在国内，医生水平参差不齐。那下一步是检查骨骼肌异常么？我
想起来小宝宝很晚才会走，14个月时还不怎么会呢，当时以为因为一出生就开始吃奶粉
，个子高，体重也高，现在想想也可能是肌肉发育不好。
【在 l*h 的大作中提到】
: clarification: the elevated enzyme levels are from the skeleton muscles.
: this could be a primary skeleton muscle disorder. the skeleton muscle
: presentation could also be secondary to other diseases.
:
: the
|
l*h
发帖数: 4124 | 6 you should let him/her see a child neurologist with good training in
neuromuscular diseases. any neurologist with good training should be able to
work the diagnosis out step by step, but a child neurologist with good
training in the special area can narrow things down much faster.
【在 l*****e 的大作中提到】
: 谢谢大牛指点！小宝宝在国内，医生水平参差不齐。那下一步是检查骨骼肌异常么？我
: 想起来小宝宝很晚才会走，14个月时还不怎么会呢，当时以为因为一出生就开始吃奶粉
: ，个子高，体重也高，现在想想也可能是肌肉发育不好。
|
l*h
发帖数: 4124 | 7 if s/he were in the US, I would recommend Basil Darras, M.D. (Boston
Children's) and Katherine Mathews, M.D. (U Iowa). |
l*h
发帖数: 4124 | 8 is this a boy? if yes, with the CK pattern, I would first suspect Duchenne
muscular dystrophy.
【在 l*****e 的大作中提到】
: 附上第四次检查的报告
:
: 常。
|
l*****e
发帖数: 261 | 9 是男孩，那是不是要去做肌电图，肌电图对20个月的小孩损伤大吗？谢谢啦！
【在 l*h 的大作中提到】
: is this a boy? if yes, with the CK pattern, I would first suspect Duchenne
: muscular dystrophy.
|
l*h
发帖数: 4124 | 10 he will need EMG (including repetitive nerve stimulation and conduction
velocity). EMG will tell pretty well what group of diseases he has.
Definitive diagnosis can usually be achieved by muscle biopsy. Nerve biopsy
is unnecessary with this kind of presentation.
standard EMG uses fine needle electrodes. in small children, this requires
right level of sedation plus quite some experience.
if this is not possible, there is surface EMG which is non-invasive but
gathers less information.
if he has easy access to genetic testing, he can bypass muscle biopsy and
test for mutation in the chromosomal region Xp21 or directly of the
dystrophin gene, depending on what is available in the facilities.
==========
so a 20m old boy with extremely high CK (total) and moderately elevated CK-
MB, possibly muscle weakness (could be already showing up but not examined
and documented because of the doctor's lack of training), what to look for:
1. if the elevation lasts only a few days, there could be a lot of innocuous
causes. in older children, if they suddenly increase the amount of physical
exercise they do considerably, they can get elevated CK for a few days (
rarely this high though).
2. if the elevation follows the flu or other infections, and lasts up to 2
weeks, with muscle pain and weakness, this could be influenza-related
myositis or juvenile benign myositis.
3. for CK this high, the most common cause in boys of this age is Duchenne's
(DMD). Becker is also possible, but rarer than DMD and only a small
percentage with elevated CK.
4. other muscular disorders are also possible, such as limb girdle muscular
dystrophy, but rarer, CK not this high, onset at later age.
5. inflammatory and immune muscle disorders: very very rare in adults, much
much more rarer in small children, besides they have presentations in other
systems.
cardiac muscle will be involved in DMD, at a later stage. DMD patients, even
at early stage, can be easier to get lung infections than normal children.
【在 l*****e 的大作中提到】
: 是男孩，那是不是要去做肌电图，肌电图对20个月的小孩损伤大吗？谢谢啦！
|
|
|
l*****e
发帖数: 261 | 11 真是太感谢了，比医院给的诊断还要详细和专业！我已经跟我哥哥说了，让他带小宝宝
去测肌电和基因测试。我现在还不够一个包子，等我攒到了一定转给你，谢谢！
biopsy
【在 l*h 的大作中提到】
: he will need EMG (including repetitive nerve stimulation and conduction
: velocity). EMG will tell pretty well what group of diseases he has.
: Definitive diagnosis can usually be achieved by muscle biopsy. Nerve biopsy
: is unnecessary with this kind of presentation.
: standard EMG uses fine needle electrodes. in small children, this requires
: right level of sedation plus quite some experience.
: if this is not possible, there is surface EMG which is non-invasive but
: gathers less information.
: if he has easy access to genetic testing, he can bypass muscle biopsy and
: test for mutation in the chromosomal region Xp21 or directly of the
|
l*****e
发帖数: 261 | 12 谢谢您的指导，我在网上找到的，没想到肌影响不良是这么严重的病
Duchenne 肌营养不良又称假肥大型肌营养不良、杜氏肌营养不良，为X连锁隐性遗传的
疾病。年发病率约为每3500个活产男婴中有1个。致病基因DMD位于Xp21，男性发病，女
性为致病基因携带者。DMD患儿一般3~5岁出现肌无力症状，病情进行性加重，大约12岁
左右失去独立行走能力，20岁左右由于肌无力、呼吸衰竭而死亡。Becker肌营养不良也
是由DMD基因缺陷所导致的，临床症状出现较Duchenne 肌营养不良晚，进展相对慢，18
岁后都还能独立行走，多可存活至成年40~50岁甚至更长寿命。
希望小宝宝只是发炎或者感冒引起的异常，不是这个病
biopsy
【在 l*h 的大作中提到】
: he will need EMG (including repetitive nerve stimulation and conduction
: velocity). EMG will tell pretty well what group of diseases he has.
: Definitive diagnosis can usually be achieved by muscle biopsy. Nerve biopsy
: is unnecessary with this kind of presentation.
: standard EMG uses fine needle electrodes. in small children, this requires
: right level of sedation plus quite some experience.
: if this is not possible, there is surface EMG which is non-invasive but
: gathers less information.
: if he has easy access to genetic testing, he can bypass muscle biopsy and
: test for mutation in the chromosomal region Xp21 or directly of the
|
l*h
发帖数: 4124 | 13 none of the primary muscular diseases is a small disease.
FYI, the more commonly used name for juvenile benign myositis is "benign
acute childhood myositis." influenza-associated myositis is usually
considered a subgroup within benign acute childhood myositis. they typically
lasts about a week or shorter, very rarely exceed 30 days.
DMD is not well documented in China. from my observation, the incidence
appears in line with what was reported in other countries, even though the
majority of neurologists in China don't recognize this disease.
18
【在 l*****e 的大作中提到】
: 谢谢您的指导，我在网上找到的，没想到肌影响不良是这么严重的病
: Duchenne 肌营养不良又称假肥大型肌营养不良、杜氏肌营养不良，为X连锁隐性遗传的
: 疾病。年发病率约为每3500个活产男婴中有1个。致病基因DMD位于Xp21，男性发病，女
: 性为致病基因携带者。DMD患儿一般3~5岁出现肌无力症状，病情进行性加重，大约12岁
: 左右失去独立行走能力，20岁左右由于肌无力、呼吸衰竭而死亡。Becker肌营养不良也
: 是由DMD基因缺陷所导致的，临床症状出现较Duchenne 肌营养不良晚，进展相对慢，18
: 岁后都还能独立行走，多可存活至成年40~50岁甚至更长寿命。
: 希望小宝宝只是发炎或者感冒引起的异常，不是这个病
:
: biopsy
|
l*h
发帖数: 4124 | 14 could you post the dates when blood was drawn for CK test and each of the
results (both total CK and CK-MB)? if relatively stable, then not likely
juvenile benign myositis (typically in children older than this).
18
【在 l*****e 的大作中提到】
: 谢谢您的指导，我在网上找到的，没想到肌影响不良是这么严重的病
: Duchenne 肌营养不良又称假肥大型肌营养不良、杜氏肌营养不良，为X连锁隐性遗传的
: 疾病。年发病率约为每3500个活产男婴中有1个。致病基因DMD位于Xp21，男性发病，女
: 性为致病基因携带者。DMD患儿一般3~5岁出现肌无力症状，病情进行性加重，大约12岁
: 左右失去独立行走能力，20岁左右由于肌无力、呼吸衰竭而死亡。Becker肌营养不良也
: 是由DMD基因缺陷所导致的，临床症状出现较Duchenne 肌营养不良晚，进展相对慢，18
: 岁后都还能独立行走，多可存活至成年40~50岁甚至更长寿命。
: 希望小宝宝只是发炎或者感冒引起的异常，不是这个病
:
: biopsy
|
l*****e
发帖数: 261 | 15 我今天看了病例，发现我之前的post有误差。这里是详细的测量值和日期。
生长发育史：1个月会笑，2个月会抬头，6月坐，8月出牙，1岁4个月会走，1岁4个月会
喊爸爸妈妈，生长发育与正常同龄儿无明显差异
家族史：父母体健，否认有遗传性或家族性疾病史
1月29日，因肺炎住院
CK 12106.8U/L，CK-MB 327.7U/L
入院后静点红霉素2天，阿奇霉素6天，哌拉西林钠他唑6天，维生素C清除氧自由基，盐
酸氨溴索祛痰，葡酸内酯片保肝，果酸二磷酸钠营养心肌。
2月7日
CK 2325.6，CK-MB 197.6
2月27日，因为停止打消炎针，只吃消炎药
CK 5925.0，CK-MB 271.9
3月4日
CK 12072.5，CK-MB 209.4
谢谢您的建议，已经预约了神经肌肉专家看病，希望只是良性肌炎。
【在 l*h 的大作中提到】
: could you post the dates when blood was drawn for CK test and each of the
: results (both total CK and CK-MB)? if relatively stable, then not likely
: juvenile benign myositis (typically in children older than this).
:
: 18
|
l*h
发帖数: 4124 | 16 the two tests in the middle may be partially suppressed by fructose-1,6-
biphosphate.
hope the best, prepare for the worst.
【在 l*****e 的大作中提到】
: 我今天看了病例，发现我之前的post有误差。这里是详细的测量值和日期。
: 生长发育史：1个月会笑，2个月会抬头，6月坐，8月出牙，1岁4个月会走，1岁4个月会
: 喊爸爸妈妈，生长发育与正常同龄儿无明显差异
: 家族史：父母体健，否认有遗传性或家族性疾病史
: 1月29日，因肺炎住院
: CK 12106.8U/L，CK-MB 327.7U/L
: 入院后静点红霉素2天，阿奇霉素6天，哌拉西林钠他唑6天，维生素C清除氧自由基，盐
: 酸氨溴索祛痰，葡酸内酯片保肝，果酸二磷酸钠营养心肌。
: 2月7日
: CK 2325.6，CK-MB 197.6
|
l*****e
发帖数: 261 | 17 谢谢你！
心情好沉重，希望厄运不要降临在这么小的孩子身上。
【在 l*h 的大作中提到】
: the two tests in the middle may be partially suppressed by fructose-1,6-
: biphosphate.
: hope the best, prepare for the worst.
|
