Diffuse cerebral angiomatosis: a case report with fatal outcome

Area of Science:

• Neurology
• Radiology
• Vascular Medicine

Background:

• Diffuse cerebral angiomatosis (DCA) is an exceptionally rare cerebrovascular disorder, with only five cases previously reported in medical literature.
• This report presents a unique case of DCA in a 16-year-old female, highlighting the diagnostic challenges and clinical course.

Observation:

• The patient presented with seizures, and neuroimaging revealed diffuse, tortuous cerebral vessels, calcifications, and arteriovenous malformations (AVMs) without a distinct nidus.
• Transcranial Doppler (TCD) indicated elevated flow velocities in all cerebral arteries, providing hemodynamic insights.

Findings:

• This case of DCA exhibited a severe clinical trajectory, characterized by significant disability, dementia, and intractable epilepsy, culminating in the patient's death.
• The observed outcome contrasts sharply with previously reported cases, suggesting potential variability in disease presentation and progression.

Implications:

• This case underscores the critical need for early diagnosis and comprehensive management strategies for rare cerebrovascular disorders like DCA.
• Further research into the pathophysiology and hemodynamic characteristics of DCA is warranted to improve patient outcomes and develop targeted therapies.