What Causes Scoliosis And Numbness In Hands Post Delivery?
An inborn error of metabolism is likely to be involved.
Detailed Answer:
Thanks for asking on HealthcareMagic.
I have gone very carefully through the details provided and fully understand your apprehensions. As you have already detailed, you definitely know the details of the case and I do not think that there can be anything more to hide. What might be lacking is a proper explanation linking the details of the case. I would insist you to get a detailed metabolic study or study of inborn errors of metabolism to be done on XXXXXXX The effects of the scoliosis need to be dealt with. If nerve compression is a cause of concern, neurosurgery might be required. Neurosurgery might also be essential for the Chiari Malformation. There are different grades of a Chiari malformation and it depends upon the risk involved.
I would also suggest you to go for a genetic counselling following a metabolic workup.
I would need you to specify the things that you wish me to enlighten you upon. Based on that I would definitely try to help you further.
Regards
What laboratory and medical findings should I be most concerned about if I am considering birth injury? What laboratory findings are hallmark for PKU from a standpoint of a 14 year old boy? What labs should be consistently found relevant and abnormal findings for a chronic missed diagnosis of PKU?? If I am to look for phenylalanine in his lab tests, what is comparable?? Ketones? Total Bilirubin, maple syrup urine disorder, BUN, creatinine? Do we get new PKU? I mean it seems to make sense that XXXXXXX seems affected greatly by diet, especially gluten, dairy.....why would a child suddenly and intermittently turn jaundiced, mental status changes, nausea, vomiting, pain, significantly elevated liver enzymes, RBC counts....
Do you not consider the induced labor of 14 hours turned to emergency C-section subsequent from XXXXXXX breech presentation after deliver of his twin sister delivered vaginally? Hypoxia in neonate, jaundice, glucose 42, failed hearing test #1 and barely passing # 2, moderate difficulty sucking, breastfeeding, swallowing, speaking, and choking spells significant? PKU test repeated due to positive 1st test? Significant shoulder pain, numbness and tingling in face and fingers and hands? Difficulty with bowel and bladder? Scoliosis? Kyphotic curvature, scoliosis, pain in head and posterior neck, pain in low back, loss of mobility significantly after Mva in 2010?
Get a metabolic workup done.
Detailed Answer:
Thanks for writing back.
It is not that what medicine cannot explain is brought under genetic cover. The functioning of the body is governed by the functioning of the underlying genes. If there is something wrong with some genes, an array of problems can follow. From the pattern of problems that XXXXXXX has, it seems to have a genetic basis. The problem is that it is at the microscopic level and unless the specific locus (the specific location of the problem) can be predicted, it is hard to confirm. It is like searching the entire city for a single culprit without proper idea of his looks. A negative result in such a situation does not necessarily mean that the culprit does not exist.
Birth injury would not lead to the array of metabolic problems even if it were present. That is the reason for my insisting on getting a metabolic panel workup done to evaluate for inborn errors of metabolism. That will include PKU and similar ailments. However, hypoxia, if present, could certainly have complicated the presentation. Hypoxia could be contributory to the failed hearing tests, increase in muscle tone etc. If hypoxia was present, it was more likely to be due to the prolonged labor rather than the C-section (which, if done earlier, would have reduced the likelihood of hypoxia).
I understand your queries, but it is hard for me to connect all the dots sitting at a distance. Such a thing requires proper clinical correlation which requires simultaneous consideration of a large number of factors in a fairly detailed manner.
Regards