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Hypontonia and Tachypnea in infant
Hi,
My 8 week old son has been hospitalized 2x since being discharged from the NICU all of these were because of his tachypnea. (including him being admitted to the NICU when he was one day old)
He has also been dx'd as hypotonic - being extremely floppy and having "no resistance to gravity" he is doing PT and OT 3x a week.
An MRI was done and shows no structural abnormalities of his brain and his brain volume is within normal range.
He has had many different test done to determine why he breates at 120 per minute and all have been negative (chest xrays, blood work - blood gas levels and metabolic things, a complete sepsis work up, spinal tap, abdominal ultrasound, and the MRI)
The best we have been told is that his tachypnea is caused by his hypotonia because he is too weak to take deep enough breaths so he needs to take many shallow breaths.
A sleep study did show that he hypoventilates when he sleeps and he will being using a CPAP to help this situation.
He feeds well, and is gaining both weight and length.
We have exhausted the obvious and not so obvious in trying to find a cause for what is going on with him, and any suggestions or input would be welcome. We had the head of a prominent hospital's pediatric cardiology department examine him (because of a murmor) and after examining him and reviewing his files he asked if we would take his card and let him know when (and if) anybody can establish the cause of what is going on..... i have had other medical professionals tell me to contact mystery diagnosis in an attempt to get a greater amount of people thinking in my son's case to help find the underlying cause of what is going on...
Thank you,
Tracey
My 8 week old son has been hospitalized 2x since being discharged from the NICU all of these were because of his tachypnea. (including him being admitted to the NICU when he was one day old)
He has also been dx'd as hypotonic - being extremely floppy and having "no resistance to gravity" he is doing PT and OT 3x a week.
An MRI was done and shows no structural abnormalities of his brain and his brain volume is within normal range.
He has had many different test done to determine why he breates at 120 per minute and all have been negative (chest xrays, blood work - blood gas levels and metabolic things, a complete sepsis work up, spinal tap, abdominal ultrasound, and the MRI)
The best we have been told is that his tachypnea is caused by his hypotonia because he is too weak to take deep enough breaths so he needs to take many shallow breaths.
A sleep study did show that he hypoventilates when he sleeps and he will being using a CPAP to help this situation.
He feeds well, and is gaining both weight and length.
We have exhausted the obvious and not so obvious in trying to find a cause for what is going on with him, and any suggestions or input would be welcome. We had the head of a prominent hospital's pediatric cardiology department examine him (because of a murmor) and after examining him and reviewing his files he asked if we would take his card and let him know when (and if) anybody can establish the cause of what is going on..... i have had other medical professionals tell me to contact mystery diagnosis in an attempt to get a greater amount of people thinking in my son's case to help find the underlying cause of what is going on...
Thank you,
Tracey
Please can you help my son born 07/12/07....
Dr's now are looking at muscle biopsy's results. He has been cleared of SMA1 and Prada-Willi Syndrome. I am just anxious in finding out what to do for him.
He is on a drug called Physostygmine (unsure if this is the correct spelling) and is drooling a lot. He is however putting on weight. He is on a ventilator and is fed through the nose.
His hands are curling up and do move much more than when he was born. His arms and legs are still limp and floppy.... A biopsy result is ready for discussion on Monday and I am so frightnened with the news they will reveal.
Can you tell me what I can expect if you can?
Dr's now are looking at muscle biopsy's results. He has been cleared of SMA1 and Prada-Willi Syndrome. I am just anxious in finding out what to do for him.
He is on a drug called Physostygmine (unsure if this is the correct spelling) and is drooling a lot. He is however putting on weight. He is on a ventilator and is fed through the nose.
His hands are curling up and do move much more than when he was born. His arms and legs are still limp and floppy.... A biopsy result is ready for discussion on Monday and I am so frightnened with the news they will reveal.
Can you tell me what I can expect if you can?
1 Comments
Sorry to hear about your child.Hope they had a diagnosis or he outgrew it.My child is having similar symptoms with no diagnosis .she is 8 months now but doesn't feed adequately and so has a g tube.Hope you can share your child's diagnosis or doctor recommendations, thanks
Thank you for responding, and I would greatly appreciate any suggestions of what they should be looking for.
I will tell you what they have eliminate as of right now.
- the MRI eliminiated any abnormality of his brain as far as size and structure (the one neuro did say his milenation was that of a 34week gestational age infant - he was 42 weeks gestational age at the time (he was born at 37 weeks)
- an abdominal ultrasound showed that his liver and spleen as well as his other organs were all normal size and showed no abnormalities
- an ecocardiogram showed a pulmonary stenosis, he was seen by the head of pediatric cardiology at the university of florida who said the stenosis is a "branch stenosis" and harmless and would not be causing his rapid breathing.
- all of his newborn screens were normal, he had a complete sepsis workup and that was normal, his spinal tap was normal, extensive metabolic blood work all came back normal, and his blood gas blood work is normal
- a sleep study showed that he has moderate obstrutive apnea as well as a couple of other issues that i can't think of the name of and the pulmonology team would like to see him again to discuss a cpap or bipap for when he sleeps
- he has been diagnosised as moderate to severe hypotonia (although hypontonia in itself is not really a diagnosis) so he is in physical and occupational therapy 5 days a week.
This is where we are at at this point, my pediatrician is working on a referral to a genetic specialist because he feels we should do some genetic testing, i do not believe that anybody has done any kind of muscle stimulation test or muscle biopsy at this time. The last time he was in the hospital several of the doctors spoke about SMA but I don't believe they did any diffinitive testing because they did not feel he was syptomatic enough. i think my ped. is going to order some of these specific test because the first time my son was in the hospital they sent him home without even examining his heart yet the second time 2 weeks later the same hospital found the pulmonary stenosis (and he was in the NICU for tachypnea when he was born at the same hospital and they didn't find the stenosis either or do an echo or really examine his heart even though he had the tachypnea and his lungs were clear) so my pediatritian is a little unhappy with the care at the hospital.
Thank you for your input I really do appreciate it
Tracey
I will tell you what they have eliminate as of right now.
- the MRI eliminiated any abnormality of his brain as far as size and structure (the one neuro did say his milenation was that of a 34week gestational age infant - he was 42 weeks gestational age at the time (he was born at 37 weeks)
- an abdominal ultrasound showed that his liver and spleen as well as his other organs were all normal size and showed no abnormalities
- an ecocardiogram showed a pulmonary stenosis, he was seen by the head of pediatric cardiology at the university of florida who said the stenosis is a "branch stenosis" and harmless and would not be causing his rapid breathing.
- all of his newborn screens were normal, he had a complete sepsis workup and that was normal, his spinal tap was normal, extensive metabolic blood work all came back normal, and his blood gas blood work is normal
- a sleep study showed that he has moderate obstrutive apnea as well as a couple of other issues that i can't think of the name of and the pulmonology team would like to see him again to discuss a cpap or bipap for when he sleeps
- he has been diagnosised as moderate to severe hypotonia (although hypontonia in itself is not really a diagnosis) so he is in physical and occupational therapy 5 days a week.
This is where we are at at this point, my pediatrician is working on a referral to a genetic specialist because he feels we should do some genetic testing, i do not believe that anybody has done any kind of muscle stimulation test or muscle biopsy at this time. The last time he was in the hospital several of the doctors spoke about SMA but I don't believe they did any diffinitive testing because they did not feel he was syptomatic enough. i think my ped. is going to order some of these specific test because the first time my son was in the hospital they sent him home without even examining his heart yet the second time 2 weeks later the same hospital found the pulmonary stenosis (and he was in the NICU for tachypnea when he was born at the same hospital and they didn't find the stenosis either or do an echo or really examine his heart even though he had the tachypnea and his lungs were clear) so my pediatritian is a little unhappy with the care at the hospital.
Thank you for your input I really do appreciate it
Tracey
Hi, I'm so sorry to hear what you ae going through with you new little one. I am a retired general pediatrician. It sounds like you are already hooked into major medical people, so I'm not sure what I could offer. There is a formal work up for "Floppy Baby Syndrome." It requires both a skilled neurologist and genetic and metabolic specialists. I suspect these people are already looking.
The focus seems to be on the tachypnea, but it sound like the tachypnea is secondary to whatever is causing the severe hypotonia. It is good to hear that he feeds well and is growing, as that eliminates some of the worst possiblitities. Have there been muscle/nerve stimulation studies (EMG/NCS). Have they done a muscle biopsy? Genetic studies?
If they are recommending contacting "Mystery Diagnosis" or a specialty diagnostic team somewhere, do not hesitate. Also, where do you live, if you are comfortable saying (at least the region)?. You might want to contact the Neuro and Metabolic Departments of a major pediatric center for help also.
Has ANY test (other than his breathing) come back abnormal?
Were any abnormalities noted in your pregnancy? Decreased fetal movement? Too much or too little amniotic fluid?
Do you want me to name some of the things that need to be looked at so you can match them against what they are already doing. This is VERY presumptuous on my part, because I have been out of medicine for 7 years, but I'm willing to toss out ideas. Best wishes, Quix
The focus seems to be on the tachypnea, but it sound like the tachypnea is secondary to whatever is causing the severe hypotonia. It is good to hear that he feeds well and is growing, as that eliminates some of the worst possiblitities. Have there been muscle/nerve stimulation studies (EMG/NCS). Have they done a muscle biopsy? Genetic studies?
If they are recommending contacting "Mystery Diagnosis" or a specialty diagnostic team somewhere, do not hesitate. Also, where do you live, if you are comfortable saying (at least the region)?. You might want to contact the Neuro and Metabolic Departments of a major pediatric center for help also.
Has ANY test (other than his breathing) come back abnormal?
Were any abnormalities noted in your pregnancy? Decreased fetal movement? Too much or too little amniotic fluid?
Do you want me to name some of the things that need to be looked at so you can match them against what they are already doing. This is VERY presumptuous on my part, because I have been out of medicine for 7 years, but I'm willing to toss out ideas. Best wishes, Quix
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