Journal Article

Spotlight on Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC)

Kozak, Igor, Mochida, Ganeshwaran, Ali, Syed, Bosley, Thomas, Lin, Doris

2024

Overview

Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC) is a rare syndrome caused by biallelic mutations in the JAM3 gene with significant intrafamilial variability in clinical presentation and brain imaging phenotypes. The clinical presentation of HDBSCC includes severe recurrent hemorrhages involving the brain parenchyma and the ventricles beginning in utero and continuing in infancy together with dense central cataracts present at birth. This comprehensive review documents reported cases on this unique condition and describes its genetic, neuroradiologic and ophthalmic features. It should be included in the differential diagnosis of children with congenital cataracts and neurodevelopmental abnormalities. Unique clinical, imaging findings and genetic testing can help the diagnosis.

• Publisher: Dove Medical Press Limited,Taylor & Francis Ltd,Dove Press,Dove,Dove Medical Press
• Subject: and congenital cataracts / and congenital cataracts (hdbscc) / Calcification / Cataract / Cataracts / Cesarean section / Child development / Children & youth / Congenital diseases / Edema / eye / Families & family life / Fetuses / Genetic aspects / Genetic disorders / Genetic screening / Hemorrhage / hemorrhagic destruction of the brain / Hydrocephalus / imaging / junctional adhesion molecule 3 (jam3) gene / junctional adhesion molecule 3 gene / Mutation / neuroradiology / Ostomy / Parents & parenting / Review / subependymal calcification / Ultrasonic imaging / Vision disorders in children