Roger’s syndrome presenting with stroke
نویسندگان
چکیده
Rogers syndrome (Thiamine responsive megaloblastic anaemia-TRMA) occurs due to defect in the SLC19A2 gene. and SLC19A3 genes encode THTR1 2 respectively, which are thiamine transporter proteins. The gene is expressed inner ear cells, β-islet hematopoietic stem cells; consequently, typical clinical trial of TRMA diabetes, TRMA, sensorineural hearing loss. This syndrome, eponymously called Roger’s rare. Mode inheritance autosomal recessive. Clinical presentation as recurrent stroke extremely We present a case five-year-old boy who had large artery territory cerebral infarcts, with no other identifiable underlying cause stroke. During current admission, etiology could be identified for infarct. On workup, preliminary diagnosis was made supplementation instituted. Gene analysis confirmed diagnosis. child product non-consanguineous marriage. There history early childhood demise two older siblings within five years age diabetic ketoacidosis (DKA). rare recessive that manifests triad loss anaemia. treatment high dose can alleviate symptoms diabetes Onset progression may delayed treatment. Some cases proband.
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ژورنال
عنوان ژورنال: International Journal of Contemporary Pediatrics
سال: 2023
ISSN: ['2349-3283', '2349-3291']
DOI: https://doi.org/10.18203/2349-3291.ijcp20231510