d****2
发帖数: 118 | 1 4-19. A 6-year-old boy is brought to the physician by his mother because of
progressive visual loss over the past year. Over the past 2 years, he has
had deterioration of his hearing, speech, writing, and intellectual
performance. His maternal uncle had similar symptoms. Visual acuity is 20/
200 bilaterally. Funduscopic examination shows optic atrophy. His hearing is
markedly impaired. There is weakness and spasticity of all extremities.
Deep tendon reflexes are extremely hyperactive. Babinski's | c*******c
发帖数: 62 | 2 C.
Diagnosis is X-linked Adrenoleukodystrophy. Note the typical age of onset (4 - 10 years old), neurological symptoms with prominent vision and hearing impairment, and the presence of disease in the maternal uncle, which implies an X-linked pattern of inheritance. | m***T
发帖数: 11058 | 3 牛人，敬仰一个！我是猜的，虽然也是C，但说不清理由，只是感觉别的选项更不合适
，根本没想到Adrenoleukodystrophy。
(4 - 10 years old), neurological symptoms with prominent vision and hearing
impairment, and the presence of disease in the maternal uncle, which implies
an X-linked pattern of inheritance.
【在 c*******c 的大作中提到】
: C.
: Diagnosis is X-linked Adrenoleukodystrophy. Note the typical age of onset (4 - 10 years old), neurological symptoms with prominent vision and hearing impairment, and the presence of disease in the maternal uncle, which implies an X-linked pattern of inheritance.
| d****2
发帖数: 118 | |
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