DiGeorge Syndrome: The Late Diagnosis That Makes Sense – Clinical Case Report
DOI:
https://doi.org/10.60591/crspmi.182Keywords:
DiGeorge Syndrome/diagnosis, DiGeorge Syndrome/genetics, DiGeorge Syndrome/therapyAbstract
DiGeorge syndrome is the most common microdeletion
syndrome and one of the velocardiofa-cial syndromes.
Congenital heart disease, primary hypoparathyroidism and
primary immunode-ficiency represent the classic triad of
manifestations. It is a very heterogeneous genetic pathol-
-ogy, with great phenotypic variability, with clinical features
and pleiotropic manifestations that can affect all organs and systems. Late diagnosis is still rare in adult medicine, with a high prob-ability of underdiagnosis. We present the case of a 33-year-old man with moderate cognitive delay and a history of epilepsy, primary hypoparathyroidism and schizophrenia admitted due to Evans syndrome. classic, namely primary hypoparathyroidism and primary immunodeficiency.
Hematological changes usually occur in childhood and are particularly rare in adulthood in patients with 22q11.2 microdeletion syndrome.
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Copyright (c) 2024 Bianca Cristea, Tiago Ferreira, Jorge Ferreira, Sandra D. Rebelo, Ana Tornada, Paula Alcântara
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