Srpski arhiv za celokupno lekarstvo 2011 Volume 139, Issue 9-10, Pages: 681-684
https://doi.org/10.2298/SARH1110681P
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Digeorge syndrome: A case report
Popović-Deušić Smiljka (Medicinski fakultet, Beograd + Institut za mentalno zdravlje, Beograd)
Lečić-Toševski Dušica (Medicinski fakultet, Beograd + Institut za mentalno zdravlje, Beograd)
Pejović-Milovančević Milica (Medicinski fakultet, Beograd + Institut za mentalno zdravlje, Beograd)
Draganić-Gajić Saveta (Medicinski fakultet, Beograd + Institut za mentalno zdravlje, Beograd)
Aleksić-Hil Olivera (Institut za mentalno zdravlje, Beograd)
Radosavljev-Kirćanski Jelena (Institut za mentalno zdravlje, Beograd)
Introduction. DiGeorge syndrome is a genetic disorder caused by deletion of
chromosome 22. The main features are congenital heart disease, absence or
hypoplasia of thymus (with consecutive immunodeficiency and infections),
hypoparathyroidism with consecutive hypocalcaemia, gastrointestinal problems,
Delayed psychomotor development, abnormalities of head and face, tendency to
develop seizures and psychiatric disorders. Syndrome can be detected
prenatally, or during early development, which is of great importance for
preventive and therapeutic measures. Death rate is high during the first year
of life, mostly because of congenital heart disease. With prompt diagnosis
and treatment most of the children can survive to adulthood, but they are
children with special needs requiring continual care and supervision (because
of metal retardation, seizures, neurological and psychiatric disorders). Case
Outline. A seven-year-old boy underwent surgical correction of congenital
heart disease soon after the birth. Since the age of four years he developed
seizures, partially controlled by antiepileptic therapy. Entering the seventh
year of age he displayed severe auto and heteroaggressive behaviour. His
condition has improved by the introduction of intensive psychiatric and
defectological treatment, and daily counselling with his mother the child
improved in the sense of calming down, better social communication and
acquiring some self-help specific skills. Conclusion. Symptoms of DiGeorge
syndrome can be detected soon after the birth, especially that concerning
congenital hearth disease. A prompt diagnosis and surgical intervention can
save the child’s life. Because of many other symptoms, many diagnostic
procedures focused on this syndrome are to be performed, followed by long
lasting stimulative treatment and treatment of seizures and psychiatric
disorders.
Keywords: DiGeorge Syndrome, congenital heart disease, immunodeficiency, hypoparathyroidism, seizures, learning disability
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