Study reveals insights into cerebrovascular abnormalities in children with Alagille syndrome

Cerebrovascular abnormalities (CVAs) are relatively common in children with Alagille syndrome (ALGS), a multisystem autosomal dominant disorder, however, a new study suggests that these CVAs, particularly vascular strokes, are not prevalent among children under the age of 16, either at the time of diagnosis or during follow-up.

The study, a single-center retrospective analysis, included 32 children with a median age of 6 years at initial diagnosis. Thirteen of the participants underwent follow-up MRI at a mean interval of 55 months.

The study found that 18 children (56%), exhibited CVAs. Among these abnormalities, stenosis or narrowing of blood vessels was the most prevalent, observed in 12 cases (37.5%). The study highlighted the stability of CVAs over time, except in cases of Moyamoya arteriopathy (MMA), where changes were noted.

Vascular strokes, commonly associated with ALGS in older patients, were found to be infrequent among children under the age of 16 both at the time of diagnosis and during the follow-up period.

The study also reported on secondary complications associated with CVAs, including a transient ischemic attack attributed to an embolic event and instances of microhemorrhages and recurrent subdural hematomas in specific patients.

Reference
Cerron-Vela CR, Tierradentro-García LO, Rimba ZL, Andronikou S. Evolution of cerebrovascular imaging and associated clinical findings in children with Alagille syndrome. Neuroradiology. 2024;doi: 10.1007/s00234-024-03316-z. Epub ahead of print. PMID: 38400955.

Rare Disease 360^® is the Official Media Partner and Official Publication of The Alagille Syndrome Alliance (Alagille.org).