Gene/phenotype/disorder under study
OMIM #185300
Abstract
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by a triad: facial port-wine stain, leptomeningeal and retinal angiomas, associated with a somatic variant in the GNAQ or GNA11 gene.
The cerebral involvement in SWS is related to abnormal vascular development, leading to reduced blood flow, ischemia, and chronic hypoxia progressing to cerebral atrophy. There is also venous stasis with increased local pressure, which raises the risk of bleeding. However, subdural hematomas in SWS are rarely described.
We have collected data from three children with SWS who presented with spontaneous subdural hematomas. We aim to expand our patient cohort with additional cases meeting the following criteria:
- Patient diagnosed with SWS (clinical diagnosis, with or without molecular confirmation)
- Brain imaging revealing one or several subdural hematomas without any explanation other than the underlying disease
We will collect data regarding the disease history, the extent of angiomatosis, as well as brain imaging.
Coordinating clinicians
MIGNOT Cyril – cyril.mignot@aphp
GAIN Emma – emma.gain@aphp.fr
Institution
Trousseau Hospital, APHP, Paris, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No