X-linked adrenoleukodystrophy in 8 patients
نویسندگان
چکیده
Results 8 patients were male, onset age ranged from 5-11 years old, and the course of disease was from 4 months to 3 years. 3 patients presented with reduced vision, 2 patients presented with hyperpigmentation and all patients show different degree nervous system symptoms, such as intelligence breakdown, attention deficit, coordination and communication ability decrease, etc. The measurement of VLCFA revealed that low level of C22:0 and high level of C24:0 and C26:0, what’s more, we can find increases in the C26:0/C22:0 and C24:0/ C22:0 ratios. Cranial MRI showed typical lesion. MRS also demonstrated abnormal image.
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ورودعنوان ژورنال:
دوره 2015 شماره
صفحات -
تاریخ انتشار 2015