- Department of Residency, Japanese Red Cross Nagahama Hospital, Nagahama, Nagahama, Japan.
- Department of Neurosurgery, Kohka Public Hospital, Kohka, Nagahama, Japan.
- Department of Neurosurgery, Japanese Red Cross Nagahama Hospital, Nagahama, Japan.
Sayaka Ito, Department of Neurosurgery, Kohka Public Hospital, Kohka, Japan.
DOI:10.25259/SNI_427_2022Copyright: © 2022 Surgical Neurology International This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
How to cite this article: Makiko Oomori1, Sayaka Ito2, Kazushi Higuchi3. Fatal ruptured occult arteriovenous malformation in a young adult: An autopsy case report. 01-Jul-2022;13:284
How to cite this URL: Makiko Oomori1, Sayaka Ito2, Kazushi Higuchi3. Fatal ruptured occult arteriovenous malformation in a young adult: An autopsy case report. 01-Jul-2022;13:284. Available from: https://surgicalneurologyint.com/surgicalint-articles/11687/
Background: Brain arteriovenous malformations (AVMs) are congenital developmental disorders with unclear causative factors and pathogenic mechanisms. Various epigenetic factors may influence the development and rupture of AVMs. Ruptured AVMs may lead to poor outcomes. Therefore, the risk factors of AVM rupture and treatment strategies for unruptured AVMs should be explored. Herein, we report a case of a fatal ruptured AVM diagnosed by radiological and autopsy findings and review the literature regarding AVM treatment.
Case Description: A 46-year-old man was brought to the hospital with sudden loss of consciousness while sitting on the edge of the bathtub. On examination, he was unconscious with poor breathing efforts. He was intubated and a brain CT scan was performed, which showed an intracerebral hemorrhage (ICH) adjacent to the right trigone with massive intraventricular hemorrhage (IVH) and subarachnoid hemorrhage (SAH). Contrast-enhanced CT scan showed abnormal vessels adjacent to the hematoma. He was diagnosed with ICH associated with IVH and SAH caused by a ruptured abnormal vascular lesion. He underwent external ventricular drainage to control the intracranial pressure. He remained unconscious and died 16 h after hospital admission. Autopsy was performed to identify the cause of ICH. Pathological sections showed a mass of blood vessels, measuring 20 × 10 × 10 mm in size, within the hematoma with a single drainer connecting to the transverse sinus. These blood vessels had variable size, shape, and wall thickness on microscopy. Some vessels had abnormal thickened walls with discontinuous elastic fibers. Based on the radiological and autopsy findings, an ICH secondary to SpetzlerMartin Grade I AVM was confirmed.
Conclusion: If the cause of ICH cannot be determined during a patient’s life, autopsy may be performed to determine the pathophysiology of occult vascular lesions, including AVMs. Patients with AVMs may have moderate or no symptoms before and after rupture. Because deep AVMs fed by posterior circulation have high risk of bleeding, surgical intervention should be considered for these patients to prevent a poor outcome. Low-grade and paraventricular AVMs in a young adult may be successfully treated with multimodal surgery.
Keywords: Diagnostic imaging, Endovascular procedures, Hemorrhagic stroke, Intracranial arteriovenous malformation, Microsurgery
Brain arteriovenous malformations (AVMs) are congenital developmental disorders with unclear causative factors and pathogenic mechanisms. Recently, various epigenetic factors have been identified to influence the development and rupture of AVMs.[
A 46-year-old healthy man was brought to our hospital by ambulance because of sudden loss of consciousness while sitting on the edge of the bathtub. He had no known diseases or history of head trauma. On admission, he was comatose (Glasgow Coma Scale score: 4) with 2 mm round isocoric pupils. He was immediately intubated in the emergency room because of severely suppressed breathing. After achieving hemodynamic stability by administering catecholamine, a brain CT scan was performed, which showed an intracerebral hemorrhage (ICH) adjacent to the right trigone with massive intraventricular hemorrhage (IVH) and subarachnoid hemorrhage (SAH) [
Brain CT of the patient. Noncontrast CT scan (a: axial and b: coronal views) showing hematoma adjacent to the right trigone, intraventricular hemorrhage, diffuse subarachnoid hemorrhage, edematous brain, and hydrocephalus. Contrast-enhanced CT scan in the axial view (c) showing abnormal vasculature with an artery originating from the right posterior cerebral artery (white arrow), vein draining into the right transverse sinus (black arrow), and hematoma (dotted arrow).
Pathological findings of the patient. A coronal section of the fixed brain (a) showing subarachnoid hemorrhage at the brain surface and hematoma in the right parahippocampal area although close to the right trigonum (encircled in a), with blood extending into the lateral ventricles. A 20 × 10 × 10 mm mass of blood vessels (b). Staining with hematoxylin and eosin (c) and Elastica van Gieson (d) showing small blood vessels with variable size, shape, and wall thickness. Thin-walled vessels had the appearance similar to veins but contained elastic fibers, which confirmed that they were arteries (dotted arrow in d). Some vessels showed abnormal partially thickened walls with discontinuous elastic fibers (arrow in d).
Diagnosis of occult AVM
Angiographically occult vascular malformations are a group of intracranial vascular malformations that cannot be visualized by serial cerebral angiography.[
Our patient had elevated ICP and was hemodynamically unstable; therefore, MRI could not be performed and contrast-enhanced CT scan was performed in the emergency room. Further investigations in our patient, with an MRI or digital subtraction angiography, may have detected the occult AVM.
Occult AVMs may present with subclinical recent or old hemorrhage.[
Histopathological examination of the lesion in our patient showed findings typical of AVMs, that is, many vessels with variable size, shape, and wall thickness, and discontinuous elastic fibers and medial smooth muscle. Compression of the AVM by the hematoma may explain why the AVM was occult. The autopsy of our patient confirmed the diagnosis of occult ruptured AVM with massive IVH and SAH.
Surgical interventions for AVM: microsurgery, endovascular embolization, and radiosurgery
Ruptured AVMs have high morbidity and mortality. The risk factors for AVM rupture are deep location,[
Up to 30% of AVMs are located in the paraventricular region.[
The AVM in our patient was located adjacent to the right trigone, where the pulsatile stress may have predisposed to the hemorrhage. Because of the massive IVH at the initial presentation, our patient did not survive.
In 1961, Margolis et al. reported four patients with ruptured AVMs diagnosed by autopsy. These patients died due to complications of the initial hemorrhage.[
A randomized trial of unruptured brain arteriovenous malformations (ARUBA) was the first randomized and controlled trial to compare medical and surgical treatments for AVM. The surgical interventions included microsurgery, endovascular embolization, and radiosurgery. The trial showed that medical treatment was superior to surgical treatment for preventing stroke and death over follow-up periods of 33 months and 5 years.[
Studies with similar participants and primary endpoints to ARUBA showed that microsurgery is safe and effective for low-grade AVMs with a high cure rate and immediate results;[
In summary, our patient was a 46-year-old adult with a 2 cm sized paraventricular AVM fed by a branch of posterior cerebral artery. The AVM had multiple risk factors for rupture. Unfortunately, the patient presented with massive IVH and did not survive. Patients with AVMs similar to our patient may have moderate or no symptoms before or after rupture. Because these AVMs have high risk of bleeding, surgical intervention should be considered. Low-grade and deep AVMs fed by branch(es) of vertebrobasilar system may be treated by radiosurgery or endovascular embolization with or without microsurgery. Although our patient did not survive, the future patients may be saved.
We reported the radiological and autopsy findings of a paraventricular occult AVM with fatal hemorrhage at presentation. If the cause of ICH cannot be determined during a patient’s life, autopsy may be performed. Such investigations may help to determine the pathophysiology of AVMs. Paraventricular AVMs, such as that found in our patient, in a young adult may be successfully treated with multimodal surgery. It is necessary to develop better treatment strategies for patients with AVMs.
The data that support the findings of this case are available on reasonable request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.
The authors certify that they have obtained all appropriate patient consent.
There are no conflicts of interest.
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