Gaucher’s disease is a common storage disorder but rare entity: Two case report
نویسندگان
چکیده
Gaucher's disease is a rare, inherited autosomal recessive metabolic disorder due to deficiency of enzyme Glucocerebrosidase resulting in deposition glucosylceramide. Deposition glucosylceramide different organs causes dysfunction and responsible for specific systemic symptoms signs. In the present cases, first case was 24-year-old female who presented with severe weakness abdominal fullness massive splenomegaly. The unicity anti-nuclear antibody positivity. Although clinical signs were classical this case. second 20-year-old male already diagnosed but only complaint Special stains play tremendous role highlighting cells.
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ژورنال
عنوان ژورنال: Journal of diagnostic pathology and oncology
سال: 2023
ISSN: ['2456-6284', '2581-3706', '2581-3714']
DOI: https://doi.org/10.18231/j.jdpo.2023.029