Cần hỏi căn bệnh này :X-linked Adrenoleukodystrophy
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Đây là bản tường trình y khoa: Medical Report Medical Report Archibald Bui Pham Hospital registration number: X3139811H Diagnosis: X-linked Adrenoleukodystrophy (Childhood Cerebral Form) Archibald was seen on 3 March 2008 at the National University Hospital, Singapore, for the problem of visual loss. Archibald is the second child of nonconsanguineous parents. His parents and elder sister are well. There is no family history of neurological diseases. Archibald was noted in November 2007 to have problems with his vision. On retrospect, there was also a history of frequent falls. When I saw him in March 2008, he had significant visual loss and was less inclined to walk. There were a few episodes where he seemed more lethargic and a little confused. He was seen by doctors in Moscow and an MRI brain was performed. On examination, Archibald had difficulty fixating. He appeared to be able to see big objects but could not see clearly enough for him to walk independently. Cardiovascular examination was normal. Abdominal examination was normal. His tone was slightly increased in the lower limbs and he was mildly hyper-reflexic in the lower limbs. Power was normal in the upper limbs and was 4/5 in the lower limbs. Cognitively, it was a bit difficult for us to assess as he spoke mainly Vietnamese and Russian. He appeared to be aware of his surroundings and was in tuned with the situation e.g. he was able to tell his mother not to cry and try to comfort her when he heard her cry in clinic. I reviewed the MRI films and they were consistent with advanced stages of X-linked Adrenoleukodystrophy (X-ALD). The MRI images were independently reviewed by our neuroradiologist and her opinion was that it was consistent with X-linked Adrenoleukodystrophy (Loes score = 16)(see attached report). We do not have the films/images as they are on a CD brought by the parents. The diagnosis of X-ALD was confirmed by very long chain fatty acids analysis which showed elevated very long chain fatty acids. Molecular genetic analysis was ordered to ascertain the mutation link : [Only registered and activated users can see links. Click Here To Register...] Còn đây là giấy xét nghiệm : Sau đây là bài viết của bạn M : Trích:
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Ðề: Cần hỏi căn bệnh này :X-linked Adrenoleukodystrophy
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