COL4A1 mutation underlying recurrent spontaneous intraparenchymal hemorrhage in an adolescent: illustrative case
Year: 2026
Type: article
Abstract: BACKGROUND COL4A1 -associated vasculopathy is a rare genetic small-vessel disorder characterized by structural fragility of the cerebral vasculature and an increased risk of ischemic stroke, intracranial hemorrhage, and leukoaraiosis. Its implications for acute neurocritical care management remain incompletely defined. OBSERVATIONS An 18-year-old male with a prior history of unexplained intracerebral hemorrhage and diffuse cerebral microhemorrhages presented 1 year later with acute neurological deterioration due to a large cerebellar hemorrhage, requiring emergency external ventricular drain placement and suboccipital decompressive craniectomy. Extensive imaging, vascular, infectious, and inflammatory evaluations were unrevealing. During hospitalization, he experienced recurrent intracranial hemorrhages, including a pontine hemorrhage, out of proportion with underlying coagulopathy. Following initiation of pharmacological deep vein thrombosis prophylaxis, an additional hemorrhagic event occurred. Genetic testing ultimately revealed a pathogenic heterozygous COL4A1 mutation. LESSONS COL4A1 -associated disease should be considered in young patients with recurrent or unexplained intracranial hemorrhage and extensive cerebral microbleeds. Early recognition is critical, as standard neurocritical care algorithms including pharmacological thromboprophylaxis may confer increased hemorrhagic risk in the setting of diffuse structural vessel fragility. When identified early, genetic diagnosis should prompt proactive awareness of rebleeding risk and prospective modification of DVT prophylaxis timing and blood pressure targets rather than rigid application of standard ICH guidelines. https://thejns.org/doi/10.3171/CASE26379
DOI: 10.3171/case26379
Institutions: Loma Linda University, Drexel University
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W7225704838