Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity.

Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive occlusion of the terminal portion of the internal carotid arteries and their branches. A genetic background was under speculation, because of the high incidence of familial occurrence. Sibling cases usually exhibit a similar clinical course. Recently, RNF213 was identified as the first MMD susceptibility gene. The c.14576G>A variant of RNF213 significantly increases the MMD risk, with an odds ratio of 190.8. Furthermore, there is a strong association between clinical phenotype and the dosage of this variant. The present study described sibling MMD cases having homozygous and heterozygous c.14576G>A variant in RNF213, as well as different clinical course and disease severity. The homozygote of c.14576G>A variant showed an early onset age and rapid disease progress, which resulted in significant neurological deficits with severe and wide distribution of vasculopathy. In contrast, the heterozygote of the variant showed a relatively late-onset age and mild clinical course without irreversible brain lesions with limited distribution of vasculopathy. This is the first report of sibling MMD cases with different doses of the RNF213 variant, showing its genetic impact on clinical phenotype even in members with similar genetic background.

[Successfully performed STA-MCA anastomosis using a branch of the STA scarcely visible on cerebral angiography in two patients with ischemic type moyamoya disease].

Preparation of a scalp artery as a donor is the first step in the procedure of direct anastomosis for the treatment of ischemic type moyamoya disease. In some cases, the scalp artery is not visualized well on cerebral angiograms. Another scalp artery must be used as a donor or it is interposed between the proximal portion of the firstly selected scalp artery and a branch of the middle cerebral artery in that condition. Skin incision should be planned to include multiple scalp arteries. On cerebral angiograms, in the present two cases, the diameter and length of branches of the STA was thought to be too small and short to anastomose, but direct anastomosis was successfully performed with a single STA branch. In conclusion, skin flap should include multiple scalp arteries prepared for interposition, and each branch of the scalp arteries should be carefully inspected intraoperatively to determine whether an angiographically small and short branch of the scalp can be used to anastomose.

[Chronological mass change of intracranial transplanted omentum in accord with decrease/increase in a patient's body weight--case report].

Moyamoya disease is a chronically progressive and occlusive cerebrovascular disease. Steno-occlusion of the terminal portion of the internal carotid artery occurs bilaterally, and fine vascular network gradually develops at the base of the brain and they act as collaterals to the distal portion of the anterior and middle cerebral arteries. Steno-occlusion of the posterior cerebral artery develops in accord with progression of the disease. Intracranial omental transplantation is one of the indirect bypass surgeries for the treatment of cerebral ischemia, especially in the territories of the anterior/posterior cerebral artery in moyamoya disease. In the present report, one of sixty-seven moyamoya disease patients who had been treated with intracranial omental transplantation, showed chronological change of the mass of the transplanted omentum in accord with decrease/increase in the patient's body weight. In addition, the patient experienced headache which appeared and disappeared in accord with increase and decrease in the patient's body weight, respectively. The transplanted omentum was thought to act in the same way as fat tissue in other portions of the body. Measurement of body weight is thought to be as important as radiological examination using computed tomography/magnetic resonance imaging in the follow-up period after intracranial omental transplantation in moyamoya disease.

[Clinical study of acute brain swelling during operation for moyamoya disease].

Treatment for moyamoya disease includes direct and indirect anastomosis. During surgery, acute and massive brain swelling has been encountered infrequently just after opening of the dura mater, while mild or moderate brain swelling is frequently found just after opening of the dura mater. Four out of 866 cases operated on by the first author in the last twenty-two years showed acute and massive brain swelling and the operation had to be completed as soon as possible. In the present study, we investigated the cause of acute brain swelling just after opening of the dura mater. Partial pressure of end-tidal carbon dioxide gas (ETCO(2), mmHg) was measured and recorded just before induction of general anesthesia (preETCO(2)) and just after opening of the dura mater (postETCO(2)) in fourteen patients operated on for moyamoya disease. The distance between the opened dural edge and the top of the swelled brain surface (dbs, mm) was also measured. The relationship between increase in ETCO(2) (x, defined as postETCO(2) minus preETCO(2)) and dbs (y) was investigated and it was revealed that there was a significant positive correlation between the two parameters (y=2.59+0.31x, n=14, r=0.65048, p=0.01177<0.05). It means that decrease in carbon dioxide gas tension in various degrees before operation was normalized abruptly by the anesthesiologist and the increase in carbon dioxide gas tension was thought to increase in cerebral blood flow abruptly, resulting in acute brain swelling.

[Acute brain swelling during operations for three patients with moyamoya disease resulting in performance of indirect anastomosis as a substitute for direct anastomosis].

Surgery for the treatment of moyamoya disease includes direct and indirect anastomosis. In the present study, three cases with moyamoya disease, in which acute brain swelling in the operative field occurred just after opening of the dura mater and indirect anastomosis was performed as a substitute for direct anastomosis to terminate the operation earlier than originally planned. They all waked immediately from general anesthesia and showed no neurological deterioration. Computed tomographay of the brain performed just after the operation showed no abnormalities such as acute infarction, hemorrhage, global brain swelling, and local brain swelling. One of the three cases showed signs of having caught a cold before the operation, another manifested allergic rhinitis just before the operation, and the other had taken a long walk and experienced hyperventilation resulting in TIA associated with quadriparesis a day before the operation. Abrupt return from hypocapnea to normocapnea during the induction of general anesthesia was thought to be the cause of the acute brain swelling. It was thought desirable that correction of hypocapnea needed to be performed gradually during the operation in those cases.

Subcutaneous tissue graft including a scalp artery and a relevant vein for the treatment of cerebral ischemia in childhood moyamoya disease.

BACKGROUND: Simple indirect anastomosis was introduced for the treatment of moyamoya disease with cerebral ischemia in the territory of anterior cerebral arteries (ACAs) or middle cerebral arteries (MCAs), and its clinical usefulness was discussed. METHODS: The study included 19 patients with childhood moyamoya disease who were operated on with subcutaneous tissue graft including a scalp artery and a relevant vein (group 1). They all had repetitive transient ischemic attacks (TIAs) in the territory of ACAs or MCAs. To compare age, sex, and the time required for the operation, 34 patients with childhood moyamoya disease with direct anastomosis were also included in the (group 2). RESULTS: No TIAs were observed in 19 of 21 operative sides during the follow-up period in group 1. The remaining 2 sides continued to have TIAs postsurgically, but with a marked decrease in frequency. There were no significant differences in age and sex between group 1 and group 2. Required time for surgical procedure in group 1 ranged from 103 to 270 minutes (mean +/- SD, 167.4 +/- 38.8 minutes), and in group 2 from 140 to 320 minutes (215.0 +/- 36.2 minutes). The former was significantly shorter than the latter (unpaired t test, t = 4.8773, P = .000007). CONCLUSIONS: Subcutaneous tissue graft including a scalp artery and a relevant vein is recommended for the treatment of moyamoya disease presenting ischemia in the territory of the ACAs or MCAs.

[Mask anesthesia for cerebral angiography in childhood moyamoya disease].

Cerebral angiography is performed for diagnosis and management of moyamoya disease and in childhood moyamoya disease is usually carried out under general anesthesia after tracheal intubation. Mechanical irritation to trachea resulting in pain,cough,and increase in secretion after termination of the general anesthesia sometimes occurs and it sometimes causes hyperventilation resulting in hypocapnea. Continuous hypocapnea sometimes causes appearance of ischemic attacks in moyamoya disease. In the present study, we examine cerebral angiography conducted under general anesthesia using face mask ventilation in fourteen children with moyamoya disease. Sevoflurane was used as inhalation anesthetics. Face mask anesthesia was sixteen times in total in the 14 patients. Cerebral angiography terminated uneventfully in these patients except one patient who showed bronchospasm after induction of anesthesia and required tracheal intubation. However, the patient showed uneventful course after termination of the angiography. Tracheal irritation did not appear and all the patients were asleep just after termination of face mask anesthesia except for the patient who required tracheal intubation. In the latter case, the patient frequently coughed out phlegm after general anesthesia with tracheal intubation. In conclusion, general anesthesia with face mask ventilation was thought to be one of the suitable anesthetic methods introduced for cerebral angiography in childhood moyamoya disease.

A simple surgical technique of direct anastomosis for treatment of moyamoya disease: technical note.

BACKGROUND: An arteriotomy on a branch of the middle cerebral artery (MCA) is required in the procedure of the direct anastomosis for the treatment of moyamoya disease, and the artery comes to be collapsed after blood is washed out. The phenomenon makes the microsurgical procedure difficult during direct anastomosis. METHODS: A piece of 3-0 blue monofilament polypropylene suture (PROLENE*, ETHICON Inc., a Johnson & Johnson Company, Somerville, New Jersey) was inserted into the lumen of the recipient artery though the ostium after termination of arteriotomy. The diameter of 3-0 PROLENE* was between 0.20 and 0.249 mm. PROLENE*, a length that was more than the length of the arteriotomy and was less than the distance between the 2 occlusion clamps placed on the recipient artery. At this time, the lumen was reopened and the wall of the recipient artery was easily passed by a microneedle with 11-0 monofilament without injury to the posterior wall of the recipient artery by the microneedle. Confirmation as to whether the microneedle snagged and injured the posterior wall of the recipient artery or not was unnecessary with this method. RESULTS: Anastomosis was easily performed using this technique for the treatment of moyamoya disease. CONCLUSIONS: Clinical application of the present technique makes the anastomotic procedure easy, even when the diameter of the recipient artery is as small as 0.5 mm.

Patch angioplasty to repair the arteriotomy defect in the wall of the middle cerebral artery after failure of superficial temporal artery-middle cerebral artery anastomosis in moyamoya disease--case report.

A 65-year-old woman presented with moyamoya disease associated with a saccular aneurysm of the posterior cerebral artery. The surgical plan required superficial temporal artery (STA)-middle cerebral artery (MCA) anastomosis to be conducted before neck clipping of the aneurysm to provide collateral flow via the STA to prevent ischemia if temporary occlusion of the parent artery of the aneurysm was needed. However, the anastomotic procedure failed because the STA was occluded at the site of temporary clip application. End-to-end anastomosis of the STA was planned after excising the occluded site of the STA, but end-to-end anastomosis could not be performed because the donor artery was too short for anastomosis to the branch of the MCA. Therefore, patch grafting using a piece of wall of the STA was performed to repair the arteriotomy defect in the wall of the MCA, followed by neck clipping of the saccular aneurysm in the posterior circulation via the subtemporal approach. Vascular reconstruction can be recommended if arterial anastomosis between a superficial skin artery and a branch of the MCA is impossible due to an intraoperative accident or technical difficulty and reperfusion is necessary.

[Strategy for direct anastomosis in moyamoya disease].

Direct and/or indirect revascularization is usually performed in the surgical management of moyamoya disease. The surgical technique for direct anastomosis is thought to be difficult in some patients with moyamoya disease. In the present report, a more reliable technique for direct anastomosis is reported and demonstrated. Strategy for hemostatic procedure on the dura mater, preservation of fine branches originating from a recipient artery, opening of the recipient artery, and the technique for an anastomosis between a superficial temporal artery and a branch of the middle cerebral artery are discussed.

[Strategy for omental transplantation in moyamoya disease].

Intracranial omental transplantation is sometimes indicated for treatment of ischemia in the territory both of the anterior cerebral artery and of the posterior cerebral artery in certain cases with moyamoya disease. The surgical process for omental transplantation is thought to be complicated and time-consuming. For this reason some technical improvements for intracranial omental transplantation are presented in this report. 1) Technique for harvest of omentum. 2) A gastroepiploic artery is anastomosed to a scalp artery in an end-to-side fashion, or in an end-to-end fashion. 3) A gastroepiploic vein is anastomosed to a cortical vein in an end-to-side fashion.

[Nutritional assessment in the surgical treatment of childhood moyamoya disease].

Pre- and postoperative values of total protein (TP), total cholesterol (TCH), hemoglobin (HGB), red blood cell (RBC) and hematocrit (HCT) were measured in the surgical treatment of seventeen patients with childhood moyamoya disease. Six out of the 17 patients had bypass surgery twice, so twenty-three cases in total were included in the present study. The postoperative parameters were measured 7 days after each operation. The average of intraoperative blood loss was 103 ml. Decreases in TP, TCH, HGB, RBC, and HCT were 19.7%, 21.3%, 19.8%, 20.8%, and 20.2%, respectively (paired t-test, P < 0.000001). Age had a significantly negative correlation with blood loss rate (blood loss/total blood volume), decrease in HGB, decrease in RBC, and decrease in HCT, respectively. Body weight also had a significantly negative correlation with these values, respectively. In summary, the nutritional state in the postoperative periods of childhood moyamoya disease had not improved even seven days after operation, so special attention to the amount of intraoperative blood loss was needed in low age and low body weight-children with moyamoya disease.

[Strategy for vascular reconstruction for failed indirect anastomosis in adult Moyamoya disease--a case report].

There exist moyamoya disease patients who require vascular reconstruction for failed indirect anastomosis. In the present study, a 36-year-old female required ipsilateral direct anastomosis for failed right fronto-temporo-parietal combined indirect bypass procedure. One of the frontal branches of the right superficial temporal artery (STA) was left intact between the other frontal branch and a parietal branch of the right STA, both of which had been used in the indirect anastomosis. The intact STA was used for direct anastomosis, and craniotomy was performed between the two craniotomy sites of the first operation. Methods of the direct anastomosis for the failed indirect anastomosis should be discussed in each patient who requires vascular reconstruction for failed indirect anastomosis.

Cerebral ischemia due to compression of the brain by ossified and hypertrophied muscle used for encephalomyosynangiosis in childhood moyamoya disease.

BACKGROUND: Encephalomyosynangiosis is one of the indirect method in which ischemic brain surface is covered by temporal muscle for the treatment of moyamoya disease. CASE DESCRIPTIONS: A 14-year-old girl who had been treated with bilateral STA-MCA anastomosis and EMS in 1999 was admitted on January 5, 2005. She showed transient incomplete palsy on the left side of the face and the ipsilateral upper extremity. On the day of admission, MRIs/MRA and 3-dimensional regional CBF measurement using stable xenon and CT scanning were conducted after performance of plain CT scanning. The MRI and CT studies showed that ossified and hypertrophied temporal muscle used for EMS to the right MCA territory compressed the brain just under the muscle. MRA demonstrated well-developed collaterals to the territories of the bilateral MCAs via the previously performed anastomosis. The CBF studies disclosed a low CBF value just under ossified and hypertrophied muscle used for EMS on the right side. She showed same transient ischemic attacks repetitively after January 5, 2005. CONCLUSIONS: The repetitive attacks with the transient motor palsy on her left side was thought to be caused by direct compression of the brain by the ossified and hypertrophied muscle used for EMS and decrease in CBF just under it, and its removal was thought to be the treatment of choices. However, the patient and her parents refused the surgical procedure, and she is treated conservatively at present.