Tomoya Ishiguro

Hereditary hemorrhagic telangiectasia in Japanese patients

To describe clinical presentations of hereditary hemorrhagic telangiectasia (HHT) patients in Japan. There were 80 patients (40 men and 40 women, age 2–78, mean 39.4 years old), who were either genetically verified or genetically not identifiable but clinically definite HHT patients. Clinical presentations of these HHT patients were analyzed retrospectively. Radiological examinations, which included at least brain magnetic resonance imaging and lung computed tomography, were performed when indicated. Seventy-eight patients had either endoglin (ENG) or activin A receptor type II-like 1 (ACVRL1) mutation. They were 53 HHT1 patients with ENG mutation in 27 families and 25 HHT2 patients with ACVRL1 mutation in 17 families. Two other female patients were clinically definite HHT, but genetic mutation could not be identified. Nosebleeds were noted in 53/53 (100%) HHT1 and 24/25 (96%) HHT2 patients. Telangiectases were observed in 34/53 (64%) HHT1 and 18/25 (72%) HHT2 patients. Pulmonary arteriovenous malformations (AVMs) were noted in 33/52 HHT1 (63%) and 5/25 HHT2 patients (20%). Brain AVMs were detected in 12/51 HHT1 (24%) and 1/25 HHT2 (4%) patients. Hepatic AVMs were noted in 7/29 (24%) HHT1 and 16/20 (80%) HHT2 patients. The number of HHT1 patients was roughly twice as many as that of HHT2 patients in Japan. Pulmonary and brain AVMs were predominantly observed in HHT1 while hepatic AVMs were detected in HHT2. It seemed that ethnicity and regionality had minimal roles in the clinical presentation of HHT.

Transventricular hemispherotomy for surgical treatment of intractable epilepsy.

Surgical procedures for cerebral hemispherotomy may be broadly divided into those using a lateral and those using a vertical approach. However, careful study of surgical procedures using the lateral approach described in the literature shows differences in the approach to the ventricles. We discuss the application of transventricular hemispherotomy as a technique which provides relatively easy ventricular access for cerebral hemispherotomy. Transventricular hemispherotomy was successfully performed in a 36-year-old woman who was diagnosed with intractable epilepsy due to Sturge-Weber disease, and in a 25-year-old man who had developed intractable post-traumatic seizures after suffering cerebral contusion in a traffic accident as a child. These patients had no seizures or complications after surgery, and both patients have been weaned from antiepileptic drugs. The transventricular approach, as compared with other lateral approaches described in the literature, provides easy access to the ventricular cavity. Transventricular hemispherotomy proved to be a useful approach that allowed the following four common steps in cerebral hemispherotomy to be performed safely: (i) interruption of the internal capsule and corona radiata; (ii) resection of the medial temporal structures; (iii) transventricular corpus callosotomy; and (iv) disruption of the frontal horizontal fibers.

Neuroradiological Manifestations of Hereditary Hemorrhagic Telangiectasia in 139 Japanese Patients

The purpose of this study is to report the neuroradiological manifestations of hereditary hemorrhagic telangiectasia (HHT). One hundred and thirty-nine Japanese HHT patients (73 men and 66 women, aged 2–78 years) were included in this study. Diagnosis of HHT was based on genetic analysis and/or clinical diagnosis of Curaçao. They included 68 HHT1 and 37 HHT2 patients. Essentially, all patients underwent brain magnetic resonance imaging (MRI) and pulmonary computed tomography (CT). Contrast enhanced studies of brain MRI and hepatic CT were performed in a subset of patients. Catheter cerebral angiography was performed when indicated. Their neuroradiological features were reviewed retrospectively. Various imaging abnormalities were found. Brain arteriovenous malformations (AVMs) were observed in 27/136 patients (19.9%, 21 patients with HHT1 and 1 patient with HHT2). Pulmonary arteriovenous fistulas (AVFs) were found in 73/137 patients (65.2%, 45 patients with HHT1 and 6 patients with HHT2). Cerebral infarction and brain abscess were found in 17 patients and 3 patients with pulmonary AVFs, respectively. T1 high lesions in the basal ganglia suggestive of porto-venous shunts were observed in 51/136 patients (37.5%, 9 patients with HHT1 and 28 patients with HHT2). Hepatic AVMs were observed in 61/136 patients (44.9%, 15 patients in HHT1 and 29 patients in HHT2). Brain AVMs and pulmonary AVFs were more common in HHT1 than in HHT2 (both p < 0.01), but hepatic AVMs were conversely more common in HHT2 than in HHT1 (p < 0.01). In conclusion, HHT patients present with a variety of neuroradiological manifestations, which are related to substantial causes of morbid-mortality in HHT.

Transcardiac cerebral angiography in a child.

The authors present a case in which transfemoral venous, transcardiac cerebral angiography was performed. In this 5-year-old girl with PHACE syndrome, both transfemoral and transbrachial arterial routes could not be used due to aortic interruption and aneurysmal dilation and small looping of the proximal portion of bilateral subclavian arteries. A 5-F balloon-tipped double-lumen catheter was advanced to the right atrium of the heart from the femoral vein. The catheter was then advanced to the left atrium through the patent foramen ovale and was further advanced to the left ventricle and then to the ascending aorta. The balloon catheter was exchanged for a 4-F catheter. Bilateral common carotid angiography was performed without difficulty. This transcardiac approach is useful in the unusual situation in which both femoral and brachial arterial routes are not available.

Dural Arteriovenous Fistula of the Sinus of the Lesser Sphenoid Wing Presenting with Pontine Hemorrhage

BACKGROUND Dural arteriovenous fistulas (DAVFs) of the sinus of the lesser sphenoid wing (SLSW) with leptomeningeal drainage are rare. We report a patient with a DAVF of the SLSW draining into the basal vein of Rosenthal (BVR) presenting with pontine hemorrhage. CASE DESCRIPTION A 71-year-old man presented with sudden right hemisensory disturbance of the arm and leg. Brain computed tomography scan showed left pontine hemorrhage, and cerebral angiography revealed a DAVF of the left SLSW. The fistula drained solely into the left BVR, which had an anastomosis to the left lateral mesencephalic vein, which had a varix invaginated into the left pons. The diagnosis was a DAVF of the left SLSW drained into the lateral mesencephalic vein via the bridging vein of the left SLSW, the deep middle cerebral vein, and the BVR, and a varix of the lateral mesencephalic vein caused pontine hemorrhage. The fistula was occluded by clipping through frontotemporal craniotomy. The postoperative course was uneventful, and postoperative cerebral angiography confirmed disappearance of the fistula. CONCLUSIONS A DAVF of the SLSW presenting with pontine hemorrhage is extremely rare, and DAVFs with deep leptomeningeal drainage should be included among a variety of etiologies of pontine hemorrhage.

Neuro-Interventions for the Neonates with Brain Arteriovenous Fistulas: With Special Reference to Access Routes

Neonatal neuro-intervention is challenging. The purpose of this article is to report the neuro-intervention for the neonates with brain arteriovenous fistulas (AVFs), with special reference to access routes. Fifteen neonates (12 boys and 3 girls) who underwent neuro-intervention within the first 14 days of life were included. Their diagnoses included vein of Galen aneurysmal malformation (6), dural sinus malformations with arteriovenous (AV) shunts (6), pial AVF (2), and epidural AVF (1). Birth weight ranged from 1,538 g to 3,778 g (mean 2,525 g). Neuro-interventions, especially access routes, in the neonatal periods (< 1 month) were retrospectively reviewed. All neonates presented with severe cardiac failure. In total, 29 interventions (mean 1.9) were performed within 1 month. Although 12 neonates with birth weight more than 2,700 g could be treated through transfemoral arterial routes, 3 neonates with birth weight less than 2,200 g could not be treated successfully by femoral arterial routes. Interventions were performed through 19 femoral arterial, 3 femoral venous, 2 umbilical arterial, 3 umbilical venous, 3 transcardiac, and 2 direct carotid routes. Their overall outcomes were six good recovery, one moderate disability, two severe disabilities, one vegetative state, and five deaths with a mean follow-up period of 7 years 2 months. Neuro-intervention for the neonates with birth weight more than 2,700 g can be performed by femoral arterial routes using a 4F sheath. For those with birth weight less than 2,200 g, however, alternative access routes are required.

Transcardiac Retrograde Transvenous Embolization of Proximally Occluded Pulmonary Arteriovenous Malformation

AbstractPurpose To report a novel transcardiac retrograde transvenous coil embolization of inadequately proximally occluded pulmonary arteriovenous malformation (AVM).MethodsPulmonary AVM in the right A4 segment in an 8-year-old boy with hereditary hemorrhagic telangiectasia was initially treated by proximal occlusion of the feeding artery with coils. 6 years later, recurrent AVM caused dyspnea on exertion. The A4 AVM was reperfused by many collaterals from local pulmonary arteries. Via the Brockenbrough procedure, an 8F-long sheath was introduced from right atrium to left atrium. A 7F balloon catheter was then coaxially introduced into right middle pulmonary vein. Then a microcatheter was introduced retrogradely from pulmonary vein to pulmonary artery through the recurrent AVM.ResultsThe venous sac and the distal arterial segment of the A4 AVM were successfully embolized with detachable coils. The A4 AVM was completely occluded. No adverse effects were observed, and dyspnea on exertion disappeared. ConclusionThis novel transcardiac retrograde transvenous embolization is useful for inadequately treated pulmonary AVM with proximal feeding artery occlusion.

Nationwide survey of pediatric intracranial arteriovenous shunts in Japan: Japanese Pediatric Arteriovenous Shunts Study (JPAS)

The authors performed a nationwide study in Japan to evaluate the annual detected rate of pediatric intracranial arteriovenous (AV) shunts such as brain AV malformations (BAVMs), pial AV fistulas (PAVFs), vein of Galen aneurysmal malformations (VGAMs), and dural AV fistulas (DAVFs). These rates were revealed for the first time and showed that VGAM, DAVF, and PAVF were relatively common but that BAVMs were extremely rare in neonates and infants.

Recurrent periventricular hemorrhage in cerebral proliferative angiopathy: Case report

Cerebral proliferative angiopathy (CPA) is a rare vascular lesion. Bleeding from CPA is uncommon, but the risk of rebleeding is high once it bleeds. We describe a case of CPA with multiple intra- and periventricular hemorrhages during 30-year follow-up. Recurrent bleeding in these areas are common in moyamoya disease. These lesions may share the cause of bleeding: proliferation of the periventricular vessels functioning as collateral pathways. Revascularization surgery for CPA may attenuate the vascular proliferation in the vicinity of the ventricle, which may prevent rebleeding.

Choroid plexus AVM with anomalous origin of the capsulothalamic artery: A case report

Background and importance Traditionally, it has been believed that the plexal segment of the anterior choroidal artery (AChoA) can be sacrificed safely. Here, we present a case of choroid plexus arteriovenous malformation (AVM) in which the capsulothalamic artery originated from distal plexal segment of the AChoA. Clinical presentation A 45-year-old man was diagnosed with arteriovenous malformation involving the left inferior horn in screening MRI. Preceding stereotactic radiosurgery, transarterial target embolization was performed. In this procedure, 20% n-butyl-2-cyanoacrylate (NBCA) was successfully injected from the lateral plexal branch of the AChoA. After embolization, right homonymous hemianopsia developed due to cerebral infarction on the left optic radiation. This infarction was considered to be within the territory of the capsulothalamic artery. Conclusion This anomalous capsulothalamic artery might be formed by hemodynamic compromise of the brain surrounding AVM in early gestation. We must be aware of this unusual anatomical variation to avoid ischemic complication in embolization of the AChoA.