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- Nov 19, 2007
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Hello folks, I'm an applicant/future doctor who wanted to pose a question about my girlfriend's sister.
She is an otherwise healthy 18 year old with suspected cerebral palsy who has recently developed respiratory difficulties, but she has a unique set of pathologies that no one can seem to piece together:
1. Mild Mental ******ation
2. Congenital Heart Defect
3. Congenital Spinal Defect
4. Hypertonia
5. Agenesis of the Corpus Callosum
She has undergone genetic testing and has not been identified as having any of the disorders they tested her for. Recently she has been hospitalized for abnormally high PCO2 levels and low PO2 levels by ABG, and it is apparent that she breathes almost exclusively using her accessory muscles. She is currently doing well at home on a non invasive ventilator at night and her CO2 Sat has leveled off, but the family still has no answers as to her condition.
Prior to the episodic respiratory difficulty she developed a case of Mono.
This is all I've got. I'm sorry if anyone thinks this post is ridiculous, I just figured I'd see if there were any Ideas out there. I've done research on my own and it seems, if in fact she does have cerebral palsy, that respiratory muscle weakness is a common ailment that occurs with age. The thing that really doesn't fit is the Agenesis of the Corpus Callosum. Any responses would be appreciated!
-William
She is an otherwise healthy 18 year old with suspected cerebral palsy who has recently developed respiratory difficulties, but she has a unique set of pathologies that no one can seem to piece together:
1. Mild Mental ******ation
2. Congenital Heart Defect
3. Congenital Spinal Defect
4. Hypertonia
5. Agenesis of the Corpus Callosum
She has undergone genetic testing and has not been identified as having any of the disorders they tested her for. Recently she has been hospitalized for abnormally high PCO2 levels and low PO2 levels by ABG, and it is apparent that she breathes almost exclusively using her accessory muscles. She is currently doing well at home on a non invasive ventilator at night and her CO2 Sat has leveled off, but the family still has no answers as to her condition.
Prior to the episodic respiratory difficulty she developed a case of Mono.
This is all I've got. I'm sorry if anyone thinks this post is ridiculous, I just figured I'd see if there were any Ideas out there. I've done research on my own and it seems, if in fact she does have cerebral palsy, that respiratory muscle weakness is a common ailment that occurs with age. The thing that really doesn't fit is the Agenesis of the Corpus Callosum. Any responses would be appreciated!
-William
