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نوع الدراسة
النطاق السنوي
1.
Rev. bras. oftalmol ; 82: e0017, 2023. graf
مقالة ي البرتغالية | LILACS | ID: biblio-1431668

الملخص

RESUMO A doença de Tay-Sachs é um distúrbio neurodegenerativo autossômico recessivo, o qual envolve o metabolismo dos lipídios, levando ao acúmulo de gangliosídeos nos tecidos, devido à deficiência da enzima hexosaminidase A. Esse depósito progressivo resulta em perda da função neurológica e, quando acomete as células ganglionares da mácula, causa o achado típico da doença, a "mácula em cereja". A patologia é diagnosticada por meio dos níveis de hexosaminidase A e hexosaminidase total no soro, além análise do DNA do gene HEXA. Este caso relata uma criança com doença de Tay-Sachs cujo diagnóstico foi suspeitado por conta dos achados oftalmológicos.


ABSTRACT Tay-Sachs Disease is an autosomal recessive neurodegenerative disorder, which involves the metabolism of lipids, leading to the accumulation of gangliosides in the tissues, due to the deficiency of the enzyme Hexosaminidase A. This progressive deposit results in loss of neurological function and, when it affects macula ganglion cells, it causes the typical disease finding, the "cherry red spot". The pathology is diagnosed through the levels of Hex A and total Hexosaminidase in the serum, in addition to the analysis of the DNA of the HEXA gene. This case reports a child with Tay-Sachs disease with a suspected diagnosis was through ophthalmologic findings.


الموضوعات
Humans , Male , Infant , Retinal Diseases/etiology , Tay-Sachs Disease/complications , Tay-Sachs Disease/genetics , Retina , Retinal Diseases/diagnosis , Tay-Sachs Disease/diagnosis , Magnetic Resonance Imaging , Hexosaminidase A/genetics , Macula Lutea/pathology
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