Imerslund-Gränsbeck Syndrome: Clinical case.
DOI:
https://doi.org/10.22516/25007440.933Keywords:
Imerslund Gransbeck syndrome, Recessive megaloblastic anemia, Proteinuria, Vitamin B12, CobalaminAbstract
Introduction: Imerslund-Gräsbeck syndrome (IGS) is a rare congenital disorder characterized by decreased vitamin B12, megaloblastic anemia, and proteinuria.
Clinical case: A 58-year-old woman with four episodes of generalized tonic movements whose paraclinical findings showed cyanocobalamin deficiency. The presence of gait disturbances and constitutional syndrome was reported upon questioning, which required further investigation. The extension tests confirmed type 1 IGS, so it was decided to continue the cyanocobalamin management and nutrition evaluation, with which an adequate evolution was achieved. The patient was eventually discharged.
Conclusion: This pathology is low prevalence and mainly affects the first decade of life. It prefers the female sex and is characterized by a decrease in vitamin B12, which can predispose to other disorders such as ataxia and growth retardation.
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