Aggressive course of multiple de novo cavernous malformations

Area of Science:

• Neurology
• Neurosurgery
• Vascular Neurology

Background:

• Intracerebral cavernous malformations (CMs) pose a risk of hemorrhage, estimated at 2%-4% annually.
• Multiple CMs typically involve dominant lesions causing symptoms, with hemorrhage risk often associated with these primary sites.

Observation:

• A 35-year-old man presented with seizures and multiple hemorrhagic lesions suggestive of CMs.
• He experienced recurrent hemorrhages from distinct, newly developed (de novo) CMs in the midbrain and cervical medullary junction, not visible on prior imaging.
• Genetic testing for familial CM types was negative, and biopsy confirmed a cavernous malformation diagnosis.

Findings:

• This case presents an unusual natural history of intracerebral cavernous malformations with recurrent hemorrhages from de novo lesions.
• The development of new symptomatic lesions over time, independent of previously identified ones, challenges the conventional understanding of CM progression.
• Despite multiple hemorrhages, symptoms were mild, and the patient maintained normal functioning.

Implications:

• The occurrence of de novo cavernous malformations and subsequent hemorrhages suggests a dynamic disease process beyond established lesions.
• Surgical resection of existing lesions may not prevent future hemorrhage risk if new de novo lesions continue to form.
• This case underscores the need for further research into the pathogenesis and long-term management of de novo cavernous malformations.