Tay-Sachs disease with atypical evolution: case report
نویسندگان
چکیده
Case presentation: Patient R.P.C., birth 06/10/2019, female, referred from pediatric clinic at two years old due to speech regression. In August 2021, she underwent routine funduscopy, prematurity, showing a red cherry spot. her neuropsychomotor development, presented cephalic support three months of age, sat up eight months, walked 11 started two-syllables nine but regressed, and currently only emits sounds. No story seizures. On neurological examination, walks without support. Motor coordination apparently preserved. Diagnostic screening tests performed: Fundoscopy (2021): Red Electroencephalogram (2022): Within normal limits. Investigation Tay-sachs Disease performed on 01/13/2022, with Lysosomal gene sequencing analysis, identifying pathogenic variants in HEXA, associated the autosomal recessive disease, confirmed Hexosaminidase A B Dosage day 03/12/2022, following result: HEXOSAMINISADE A: 16.9 nmol/h/mL; HEXOSAMINIDASE (Activity): 1.6%.
منابع مشابه
Tay-Sachs Disease
In 1881 British ophthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system [4] as manifested in the child?s physical and mental retardation [5]. This cherry-red spot is a characteristic that would eventually come to be associated with...
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ژورنال
عنوان ژورنال: Arquivos De Neuro-psiquiatria
سال: 2023
ISSN: ['1678-4227', '0004-282X']
DOI: https://doi.org/10.1055/s-0043-1774557