A Girl Presented with Learning Difficulty and Poor School Performance: A case report
DOI:
https://doi.org/10.3329/bjm.v34i2.65617Keywords:
Learning difficulty; Chromosome 22q11.2 deletion; DiGeorge syndrome; Dysmorphia; Hypocalcemia; Hypoparathyroidism; MicrodeletionAbstract
DiGeorge Syndrome (DGS) which is also known as chromosome 22q11.2 deletion syndrome is a primary immunodeficiency caused by the deletion of chromosome 22. Its main features include dysmorphia, hypoparathyroidism, hypocalcemia, hypoplasia or aplasia of the thymus, cardiac anomalies, renal anomalies, and behavioral/ psychiatric issues. This incurable syndrome could be treated for its complications to increase the quality of life. With the advancement of technology, DGS can now be identified in childhood itself where FISH is the main diagnostic method used. A case report of a 7 year-old girl who visited the learning difficulty, poor memorization,poor school performance and socialization problems is presented here. On the evaluation of his case, DiGeorge Syndrome was confirmed.
Bangladesh J Medicine 2023; 34(2): 147-150
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