Association between trisomy 21 and 'puff of smoke' with an unusual presentation of transient ischaemic attack

Scritto il 31/12/2025
da Aiswarya Raju

BMJ Case Rep. 2025 Dec 31;18(12):e267602. doi: 10.1136/bcr-2025-267602.

ABSTRACT

Here we present the case of a paediatric patient with Down syndrome associated with Moyamoya disease. The patient came with symptoms of transient ischaemic attacks. Scans revealed occlusion of the internal carotid artery, showing a characteristic 'puff of smoke' appearance. The patient was then managed surgically by encephaloduroarteriosynangiosis alongside an anastomosis between the superficial temporal artery from the dura and the middle cerebral artery.

PMID:41475869 | DOI:10.1136/bcr-2025-267602