Cerebral hemorrhage in monozygotic twins with hereditary hemorrhagic telangiectasia: case report and hemorrhagic risk evaluation.

Rattani A, Dewan MC, Hannig V, Naftel RP, Wellons JC, Jordan LC
J Neurosurg Pediatr. 2017 20 (2): 164-169

PMID: 28524787 · DOI:10.3171/2017.3.PEDS16587

The authors present a case of monozygotic twins with hereditary hemorrhagic telangiectasia (HHT) who experienced cerebral arteriovenous malformation (AVM) hemorrhage at a very young age. The clinical variables influencing HHT-related AVM rupture are discussed, and questions surrounding the timing of screening and intervention are explored. This is only the second known case of monozygotic HHT twins published in the medical literature, and the youngest pair of first-degree relatives to experience AVM-related cerebral hemorrhage. Evidence guiding the screening and management of familial HHT is lacking, and cases such as this underscore the need for objective and validated protocols.

MeSH Terms (9)

Cerebral Hemorrhage Diseases in Twins Humans Infant Intracranial Arteriovenous Malformations Male Risk Assessment Telangiectasia, Hereditary Hemorrhagic Twins, Monozygotic

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