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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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7 months old, having vomiting episodes, stunted growth, laziness, low pulse. Symptoms due to mitochondrial disease?

I have a query regarding my nephew who is just 7 months old.He used to do fragile vomitings from the beginning of his birth uptil now and there was also a problem of hyponatremia and hyperkalemia .Doctors diagnosed Congenital Adrenal Hyperplasia because of low sodium levels and treated him with steriods drugs such as hydrocortisone and some fluorinated drugs.He had been taking those drugs for almost 5 months but as his growth was stunted,his weight was not increasing,he was becoming lazy, so we went to another child specialist who told us that the child is not actually suffering from this disease.His pulse rate was very low (in 40s and 50s)so he has gone through pacemaker surgery which was successful.Now his breathing is becoming faster then come to normal.Now doctors are very sure that he has mitochondrial disease and he wont survive.But his eye test was clear no pigment found and also EMG test was also positive but still they are saying that his heart problem is due to this mitochondrial disease.What is ur opinion doctor?is he is actually suffering from this disease??kindly give your suggestion..
Thu, 7 Mar 2013
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Pediatrician 's  Response
Hi,

Thank you for your query.

I am sorry to hear about the problems that your nephew is undergoing. I think that there is some communication problem as there is nothing as mitochondrial disease. It can be cardiomyopathy which can explain the low pulse and the grave prognosis. I suggest that you discuss with the doctor and understand the whole problem.

I hope I have answered your query to your satisfaction.

Wishing your nephew an early recovery.

Regards,

RKK
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