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[A case report of Lhermitte-Duclos disease with systematic AVMs]
Tomohiro Okunaga1, Hideaki Takahata, Minoru Nakamura
1Department of Neurosurgery, Sasebo General Hospital, Japan.
Insights
This case study presents Lhermitte-Duclos disease (LDD) in a patient with extensive arteriovenous malformations (AVMs). It suggests a potential, previously unreported association between LDD, Cowden disease, and AVMs.
Area of Science:
- Neurology
- Radiology
- Pathology
Background:
- Lhermitte-Duclos disease (LDD), also known as dysplastic gangliocytoma, is a rare cerebellar tumor.
- Arteriovenous malformations (AVMs) are abnormal connections between arteries and veins.
Observation:
- A 46-year-old woman with a history of heart failure due to AVMs and limb amputation presented with loss of consciousness.
- Imaging revealed a cerebellar tumor with characteristic parallel linear striations, consistent with LDD.
- Pathological examination confirmed dysplastic gangliocytoma.
Findings:
- The patient was diagnosed with Lhermitte-Duclos disease (LDD) and extensive arteriovenous malformations (AVMs).
- While Cowden disease was not definitively associated in this case, existing literature links Cowden disease to both LDD and AVMs.
- This case highlights a potential, though unproven, association between LDD and AVMs.
Implications:
- This case suggests a possible link between Lhermitte-Duclos disease and arteriovenous malformations.
- Further research may explore the potential co-occurrence of LDD, Cowden disease, and AVMs.
- Understanding these associations could improve diagnostic and treatment strategies for patients with complex vascular and neurological conditions.
Abstract:
We report a case of Lhermitte-Duclos disease (LDD) with huge AVMs of left extremities. The patient is a 46-year-old woman, who was identified heart failure due to AVMs at 13 years old and underwent amputation of left arm and several embolizations for AVM of left leg. Following a loss of consciousness, she was admitted to our hospital at 46 years old. CT scan showed a low-density area in the vermis of cerebellum. MR imaging showed a tumor with characteristic parallel linear striation. She was treated with partial resection of tumor. Pathological findings were dysplastic gangliocytoma. She was diagnosed LDD by MR imaging and pathological findings. Some reports describe an association between LDD and Cowden disease. On the other hand, there are reports of an association between Cowden disease and AVM. However, to our knowledge, there is no report of an association between LDD and AVM. Although this case didn't be revealed an association with Cowden disease, we believe that this case is a very interesting one henceforth suggesting the association between LDD, Cowden disease, and AVM.