4th Pediatric Infectious Diseases Conference
 
 
Home  Back   ISSN 0973 - 0958
 
Specialist Answers
Question
My nephew has breath holding spells since he was a few weeks old. My sister has got used to them and handles them quite well. He does it 3 to 4 times a day. Recently they seem to be worse and 10 days ago he had one where he went into convulsions for 5 minutes. They rushed him to the children hospital in Toronto and he has been there ever since. While in the hospital they did a blood test along with countless other tests and they found his CPK levels were at 7000 then dropped to 6000 and they proceeded to rise to 30,000. They have found nothing conclusive in any test why this level is so high. They say they have never had a case like this one and have nothing to compare it with. He is only one and a half year old. They won't let them out of the hospital until they get this figured out. They have not done a biopsy yet but that is a last resort. My sister has had so many different doctors and some are totally focusing on the breath holding spells which are the worst they have ever come across. Others are baffled with this high CPK levels. Some even think they are somehow related. Do you have any leads as to what might possibly be wrong with my nephew?
Answer
Breath holding spells are usually not seen in new born period. If seen, one should rule out epilepsy which may mimic a breath holding spell. An EEG would be useful, preferably a video EEG so that when he gets the spell, the electrical activity of the brain can be recorded and confirmed whether it is a seizure. Regarding the CPK, does he have any muscle weakness? If yes, then a muscle biopsy would be required. Sometimes a high CPK would be seen in patients with convulsions if the muscles become tight and CPK rises. However this is transitory and levels come back to normal soon. In your nephew an inborn error of metabolism with enzyme deficiencies should be ruled out. A urine aminoacidogram, muscle biopsy and maybe even an MRI of the brain would be required.
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