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Schizophrenia in DiGeorge Syndrome: A Unique Case Report
Sukaina Rizvi1, Ali M Khan2, Hina Saeed3
1Psychiatry, Kings County Hospital Center, Brooklyn, USA.
Cureus
|October 23, 2018
Summary
A rare case report details a young woman diagnosed with DiGeorge syndrome after presenting with psychosis and basal ganglia calcifications. This highlights the syndrome
Area of Science:
- Neurology
- Genetics
- Psychiatry
Background:
- DiGeorge syndrome (22q11.2 deletion syndrome) is a complex genetic disorder.
- Psychotic features and basal ganglia calcifications are not typically associated with DiGeorge syndrome.
- Fahr's syndrome is characterized by idiopathic basal ganglia calcifications.
Observation:
- A 21-year-old African American woman presented with psychotic features.
- Incidental finding of basal ganglia calcifications on CT scan.
- Initial diagnosis considered Fahr's syndrome.
Findings:
- Genetic testing confirmed 22q11.2 deletion, establishing DiGeorge syndrome.
- Basal ganglia calcifications are rarely reported in DiGeorge syndrome.
- A strong genetic predisposition for schizophrenia in DiGeorge syndrome patients was noted.
Implications:
- This case underscores the importance of comprehensive diagnostic evaluation, integrating clinical, radiological, and genetic findings.
- It emphasizes the need to consider DiGeorge syndrome in patients with unexplained basal ganglia calcifications and psychiatric symptoms.
- The findings contribute to understanding the neurological and psychiatric spectrum of 22q11.2 deletion syndrome.
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