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Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations
Published on: October 20, 2017
Down syndrome with cerebral arteriovenous malformation
1Department of Paediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India. drsriparnabasu@rediffmail.com
Annals of Tropical Paediatrics
|February 19, 2009
Summary
Down syndrome (DS) is a chromosomal disorder. This report details a rare case of cerebral arteriovenous malformation presenting with motor deficits in a child with DS.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Down syndrome (DS), or trisomy 21, is a common chromosomal disorder.
- Congenital malformations, particularly cardiac and gastrointestinal, are frequently observed in DS.
- Cerebral arteriovenous malformations (cAVMs) are rarely reported in individuals with DS.
Observation:
- A 2-year-old girl diagnosed with Down syndrome presented with neurological symptoms.
- The patient exhibited right-sided hemiparesis and partial seizures on the right side.
- Clinical presentation suggested a potential central nervous system abnormality.
Findings:
- Brain imaging, specifically a computerized tomographic (CT) scan, revealed features consistent with cerebral arteriovenous malformation.
- The diagnosed cAVM correlated with the observed motor neurodeficits (hemiparesis) and seizures.
- This case highlights a rare neurological complication in Down syndrome.
Implications:
- The findings underscore the importance of considering rare neurological complications like cAVM in the diagnostic workup of children with Down syndrome.
- Early detection and management of cAVM in DS patients may improve neurological outcomes.
- Further research is warranted to understand the association between DS and cAVM and its clinical significance.
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