معرفي بيمار مورد GM1
کد: G-1030
نویسندگان: Maryam Kachuei © ℗
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خلاصه مقاله:
خلاصه مقاله
We present a patient with an early, infintile type of GM, gangliosidosis.She was the product of consanguineous marriage. Hypotonia was evident from the first months of life. There was no fix and follow at examination and cherry red spot was detected. Hepatosplenomegaly was documented by sonography and extensive Mongolian spot was also noted .At 14 month she had head lag, feeding was done with NG tube and beta-galaktosidase enzyme activity was lower than normal.
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