Tay-Sachs disease: a case report.
Küçük Resim Yok
Tarih
1995
Yazarlar
Dergi Başlığı
Dergi ISSN
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Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Tay-Sachs disease (GM2 gangliosidosis I) is an autosomal recessive lysosomal-storage disorder confined to the central nervous system, resulting from deficiency of hexosaminidase A. The case presented is of a twelve-month-old girl brought to the hospital because of mental-motor deterioration and convulsions. She was the child of first cousins and had a history of the deaths of two siblings with the same manifestations. Generalized hypotonia, macrocephaly, hyperacusis and a retinal cherry red spot appearance were present. There was no organomegaly. The diagnosis of Tay-Sachs disease was made by means of absence of serum hexosaminidase A activity.
Açıklama
Anahtar Kelimeler
beta n acetylhexosaminidase, article, blood, case report, female, human, infant, onset age, pathology, retina macula degeneration, Tay Sachs disease, Age of Onset, beta-N-Acetylhexosaminidase, Female, Humans, Infant, Macular Degeneration, Tay-Sachs Disease
Kaynak
The Turkish journal of pediatrics
WoS Q Değeri
Scopus Q Değeri
Q3
Cilt
37
Sayı
1
