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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.

Obstructive sleep apnea (OSA), a risk factor for coronary artery disease, remains under diagnosed. We investigated if OSA identified by the Berlin Questionnaire (BQ) is associated with the risk of coronary artery disease. Cases were patients referred for elective coronariography. The cases were classified with significant coronary lesions (stenosis ≥ 50% in an epicardial coronary) or without significant coronary lesions. Controls were selected from a population-based sample. Positive BQ results were identified in 135 (41.2%) of 328 cases, in contrast with 151 (34.4%) of 439 control subjects (p = 0.03). In a multinomial logistic analysis, the risk for OSA identified by the BQ was independently associated with coronary artery disease in cases with lesions of at least 50% (OR = 1.53; 95%CI: 1.02-2.30; p = 0.04). The risk from OSA identified by the BQ was higher in younger subjects (40-59 years) (OR = 1.76; 95%CI: 1.05-2.97; p = 0.03) and in women (OR = 3.56; 95%CI: 1.64-7.72; p = 0.001). In conclusion, OSA identified by the BQ greatly increases the risks of coronary artery disease in patients having significant coronary artery lesions indicated by anangiogram, particularly in younger individuals and in women.