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[Neurofibromatosis associated with moyamoya arteriopathy and fusiform aneurysm: case report]
J I Siqueira Neto1, G S Silva, J D De Castro
1Departamento de Medicina Clínica da Universidade Federal do Ceará (UFC), Brasil.
Abstract:
We report a case of von Recklinghausen's disease associated with multiple intracranial arterial occlusion ("moyamoya-like") and a fusiform aneurysm. A 28 years-old man with type I neurofibromatosis presented with syncope, complex partial seizures and mental deterioration. After an acute headache episode associated with meningeal signs, drowsiness, and hemorrhagic CSF, the patient was evaluated with cranial CT scan, MRI and angiogram that revealed an obstructive arteriopathy compatible with moyamoya disease and a fusiform aneurysm in the posterior circulation. The authors discuss the clinical and radiological findings and the therapeutic decision in this case comparing with the few similar reports in the medical literature. Recognition of an underlying rare genetic disorder may be of considerable importance in young patients presenting with seizures.
Insights
Von Recklinghausen's disease, a rare genetic disorder, can present with moyamoya-like arterial disease and aneurysms. Early recognition is crucial for managing neurological symptoms in affected young patients.
Area of Science:
- Neurology
- Vascular Neurology
- Neurogenetics
Background:
- Neurofibromatosis type I (von Recklinghausen's disease) is a rare genetic disorder.
- Cerebral vasculopathy, including moyamoya disease, is an uncommon but serious complication.
Observation:
- A 28-year-old male with neurofibromatosis type I presented with syncope, seizures, and cognitive decline.
- Clinical deterioration followed an acute headache, meningeal signs, and hemorrhagic cerebrospinal fluid.
- Imaging revealed moyamoya-like intracranial arterial occlusion and a posterior circulation fusiform aneurysm.
Findings:
- The case highlights a rare association between neurofibromatosis type I and complex cerebrovascular disease.
- Radiological findings demonstrated obstructive arteriopathy consistent with moyamoya disease.
- A fusiform aneurysm in the posterior circulation was identified, adding to the vascular complexity.
Implications:
- This case underscores the importance of considering rare genetic disorders in young patients with unexplained seizures and neurological deficits.
- Early diagnosis and management of associated vascular anomalies are critical for preventing severe neurological events.
- Further research into the link between neurofibromatosis and cerebrovascular disease may improve patient outcomes.