RT Journal Article
SR Electronic
T1 Alport’s syndrome and intracranial aneurysm: mere coincidence or undiscovered causal relationship
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e228175
DO 10.1136/bcr-2018-228175
VO 12
IS 1
A1 Subhasish Bose
A1 Samata Pathireddy
A1 Krishna M Baradhi
A1 Narothama Reddy Aeddula
YR 2019
UL http://casereports.bmj.com/content/12/1/e228175.abstract
AB A 44-year-old Caucasian man with a history of deceased donor renal transplant for end-stage renal disease from Alport’s syndrome (AS), presented with a spontaneous subarachnoid haemorrhage and hydrocephalus. Following an external ventricular drain for the hydrocephalus, a CT angiography revealed a dissection of the left vertebral artery extending into vertebro-basilar junction necessitating a bypass between left occipital artery to left posterior inferior cerebellar artery. He had a posterior fossa Craniectomy, C1 laminectomy and coiling off, of the left vertebral artery. Postprocedure course was prolonged but uneventful with complete recovery and normal renal function 18 months postpresentation. AS, a disease caused by abnormalities in the synthesis of type IV collagen, can cause aneurysms with severe and permanent neurological sequalae. We present a case of AS with intracranial arterial dissection with potential life-threatening consequences and discuss the genetic and molecular basis of AS along with review of the relevant literature.