A case series of cerebral venous thrombosis as the first manifestation of homocystinuria.

ABSTRACT:

Background

Cerebral venous thrombosis (CVT) is an important cause of stroke particularly in younger patients and potentially fatal if diagnosis is delayed. The presentation of symptoms is highly variable and consequently the diagnosis and underlying cause is often delayed or overlooked. Homocystinuria, a rare autosomal recessive disorder is an identified risk factor for CVT.

Purpose

A timely diagnosis and treatment of the underlying cause of CVT could result in improved outcome and prevent further events. This case series describes the clinical course of six adults presented with unprovoked CVT, in whom the diagnosis of underlying homocystinuria was delayed with adverse consequences. We aim to highlight the importance of recognising homocystinuria as an underlying cause of C

SUBMITTER: Ochoa-Ferraro A 

PROVIDER: S-EPMC8948514 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature