Surgical treatment and perioperative management of moyamoya disease associated with glycogen storage disease Type 1a

The authors report a case of concurrent moyamoya disease and glycogen storage disease Type 1a that was successfully managed with bypass surgery. This 7-year-old Japanese girl, diagnosed with glycogen storage disease Type 1a at the age of 2 years, presented with repeated transient ischemic attacks. Cerebral angiography revealed severe stenosis at the terminal portions of the bilateral internal carotid arteries, with typical moyamoya vessels. The patient underwent superficial temporal artery-middle cerebral artery anastomosis and encephalomyosynangiosis bilaterally, in 2 staged procedures at an interval of 4 months. Despite perioperative administration of glucose, hypoglycemia and metabolic acidosis occurred after both surgeries. The symptoms were milder after the second surgery, in which an increased dose of glucose was used. The patient tolerated the perioperative conditions well under intensified medical treatment, and no further ischemic symptoms occurred.     

Challenges managing end‐stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease

Moyamoya disease is a chronic cerebrovascular disorder with progressive stenosis. We describe a four‐yr‐old female with features of moyamoya disease referred to our center for kidney transplant evaluation with ESRD secondary to presumed renal dysplasia along with concern for cerebral vascular anomalies. With her constellation of organ involvement, a genetic workup revealed a homozygous, frameshift mutation in the mitochondrial methionyl‐tRNA formyltransferase gene. Given her vascular anomalies and evidence of prior infarcts seen on cerebral imaging, it was felt that her risk of future stroke events was high and that hypotension or intravascular volume depletion would further exacerbate this risk. In hopes of improving her tenuous cerebral perfusion, she underwent a bilateral temporal craniotomy for superficial temporal artery to middle cerebral artery bypass. We highlight the challenges faced in a child with ESRD and kidney transplantation when cerebral vasculature is compromised. A multidisciplinary approach is critical in determining the need for a revascularization procedure prior to transplant and to help reduce the risk of ischemic or hemorrhagic events in this patient population.     

Childhood moyamoya disease: hemodynamic MRI

Background. Childhood moyamoya disease is a rare progressive cerebrovascular disease. Objective. To evaluate cerebral hemodynamics using dynamic Gd-DTPA-enhanced imaging in children with moyamoya disease. Materials and methods. Eight children (2–11 years of age) with the clinical and angiographic findings typical of moyamoya disease, before and/or after surgical intervention (pial synangiosis), underwent conventional MR imaging (MRI) and hemodynamic MR imaging (HMRI). HMRI used a spoiled gradient-echo with low flip angle (10 deg) and long TE (TR/TE = 24/15 ms) to minimize T 1 effects and emphasize T 2^* weighting. Raw and calculated hemodynamic images were reviewed. Three-dimensional time-of-flight MR angiography (MRA) and perfusion brain single photon emission computed tomography (SPECT) were also performed. Results. Abnormal hemodynamic maps resulting from vascular stenosis or occlusion and basal collaterals were observed in six patient studies. HMRI depicted perfusion dynamics of affected cerebrovascular territories, detected cortical perfusion deficits, and complemented conventional MRI and MRA. HMRI findings were consistent with those of catheter angiography and perfusion SPECT. Conclusion. Our preliminary experience suggests that HMRI may be of value in the preoperative and postoperative evaluation of surgical interventions in moyamoya disease. Received: 20 February 1996 Accepted: 4 February 1997     

Moyamoya disease associated with midaortic syndrome

We report a 1-year-old girl who presented moyamoya disease associated with midaortic syndrome. She had been treated for cardiac failure and severe hypertension due to midaortic syndrome until she suffered seizure and repeated cerebral ischemic attack. Cerebral angiography revealed stenosis of the bilateral internal carotid artery at its terminal portion. She was successfully treated with encephaloduroarteriosynangiosis, and ischemic attack ceased postoperatively. This is the first report of moyamoya disease with midaortic syndrome. Although cerebral ischemic attack has been effectively managed by encephaloduroarteriosynangiosis, renovascular hypertension is still difficult to control.     

Pediatric stroke: current developments

PURPOSE OF REVIEW: Pediatric arterial ischemic stroke is relatively rare but carries a considerable impact and high risk of recurrence--especially in patients with sickle cell disease and various forms of vasculopathy. We will discuss risk factors, vascular physiology, and primary/secondary/rehabilitative therapies. Goals for future investigation and treatment are suggested. RECENT FINDINGS: Risk factors include chronic disease, vasculopathy, acute illness, cardiac disease, head and neck trauma, infection, and prothrombic disorders. Research has begun to implicate genetic risk factors--initially in sickle cell disease and more recently in prothrombotic disorders, moyamoya, and nitric oxide regulation. The vascular physiology of pediatric arterial ischemic stroke, especially sickle cell disease stroke, is currently undergoing study in animal models and in humans. No primary prevention therapy for pediatric arterial ischemic stroke is known. Various primary and secondary prevention therapies are used, however, in at-risk sickle cell disease patients. Aspirin, coumadin, and heparin are often initiated as secondary prevention therapies for non-sickle cell disease-associated arterial ischemic stroke, but no studies have assessed efficacy. SUMMARY: Pediatric arterial ischemic stroke is under-recognized and under-studied. Investigation into the hemodynamic aspects of arterial ischemic stroke, although best studied thus far in sickle cell disease, has been neglected. It is likely that enhanced study of hemodynamics and autoregulation will elucidate both new prevention opportunities and novel treatments.     

Pediatric Moyamoya Disease: Clinical Profile, Literature Review and Sixteen Year Experience from a Tertiary Care Teaching Institute

Objective

To assess the clinical spectrum and outcome of pediatric moyamoya disease (MMD) in Indian sub-continent.

Methods

The authors retrospectively analysed data of 23 patients, diagnosed with pediatric moyamoya disease from a single center during the period of 1996–2011.

Results

There were 18 boys and 5 girls. Mean age at onset of symptoms was 3.8?±?2.2 y. All patients presented with cerebral ischemic events. Recurrent stroke was the presenting feature in 12(52.2 %) patients. Twenty one patients were definitive case of moyamoya disease and two were probable case of moyamoya disease. Posterior circulation was involved in 26.1 % patients. Three patients underwent indirect surgical revascularisation procedure and rest were managed conservatively. On follow up 66.6 % patients had residual neurological deficit.

Conclusions

Heightened awareness of this entity among pediatric neurologists is required for early diagnosis of pediatric moyamoya disease.     

Evaluation of cerebral hemodynamics with perfusion MRI in childhood moyamoya disease

The purpose of our study was to evaluate the role of perfusion MRI and to compare the findings with those of conventional imaging in childhood moyamoya disease (MMD). Perfusion MRI was performed preoperatively on 13 cases of childhood MMD. Based on the perfusion MRI findings, patients were classified into four groups: those with normal regional cerebral blood volume (rCBV) and time to peak (TTP) (group 1, n = 2); those with normal rCBV and delayed TTP (group 2, n = 1); those with increased rCBV and delayed TTP (group 3, n = 5), and those with decreased rCBV and delayed TTP (group 4, n = 5). Lesion volume as determined using the rCBV map was compared with that on MRI and single photon emission computerized tomography (SPECT). The characteristics of groups 1, 2 and 3 were a high frequency of transient ischemic attacks, normal finding on MRI, early angiographic stages, decreased reserve on SPECT and favorable operative outcome. In group 3, angiography revealed abundant collateral channels. In group 4, all cases had infarction on MRI and abnormal perfusion on SPECT. Angiographic stages tended to have progressed, and operative outcome was less favorable. Perfusion MRI documented hemodynamic asymmetries in the five cases with normal MRI. Perfusion MRI is suggested to have a sensitivity intermediate between rest and acetazolamide SPECTs. We conclude that perfusion MRI may be a valuable tool for characterizing and monitoring ischemia in MMD. Perfusion MRI provides additional functional information not available from conventional MRI and has a potential role comparable to SPECT in the evaluation of MMD.     

Cerebral blood flow abnormalities in children with Sydenham's chorea: a SPECT study

Functional imaging studies in patients with Sydenhams chorea have suggested brain perfusional abnormalities. In this study, we aimed to investigate the cerebral perfusion patterns of the cortical/subcortical structures by using Tc-99m hexamethylpropylenamine oxime single photon emission computed tomography in children with Sydenhams chorea, accompanied with magnetic resonance imaging and cranial Doppler studies. Brain MRI and Doppler studies of the all cases were normal. In the brain SPECT study, six patients were determined to have cerebral perfusion abnormalities. Although six patients responded well to the therapy, two girls who had hypoperfusion in the right frontal region as well as hypo- / hyperperfusion in the basal ganglia did not respond to therapy. While the chorea form of the patients who have cerebral perfusional abnormality was generalized, the clinical picture of the patients with normal cerebral perfusion was in the form of hemichorea.     

The scintigraphic appearance of childhood moyamoya disease on cerebral perfusion imaging

Objective

This study was performed to evaluate the role of single photon emission computed tomography (SPECT) perfusion imaging in the evaluation of patients with moyamoya disease.

Materials and methods

Five patients (four female, one male) were studied utilizing iodine-123 iodoam-phetamine or technetium-99m hexamethylpropyleneamine oxime SPECT. The data were reconstructed into axial, coronal and sagittal sections for review, and compared with CT, MR and/or angiographic images.

Results

All five patients had significant perfusion defects. These areas of vascular compromise were seen to cross normal vascular territories, and were greater in number and extent than seen on anatomic sectional imaging.

Conclusion

Patients with moya-moya disease have a recognizable pattern of scintigraphic perfusion deficits which should be identified by pediatric imaging physicians. SPECT perfusion studies should be performed in conjunction with other imaging modalities (CT, MR or angiography).     

Multiple arterial ischemic strokes in a child with moyamoya disease and Mycoplasma pneumoniae infection

Moyamoya disease is a rare disorder characterised by a progressive occlusion or stenosis of the distal portions of bilateral internal carotid arteries with the development of a network of collateral vessels. Pediatric patients show transient ischemic attacks or strokes; diagnosis is made on the basis of clinical and radiographic findings. The case of a 2-year-old female, which after a Mycoplasma pneumoniae infection presented multiple cerebral strokes is reported. A diagnosis of moyamoya disease was made on the basis of neuroradiological findings; neurological complications due to Mycoplasma infection are reported and the relationship between disease and infection are discussed.     

Identification of Coronary Artery Disease in the Pediatric Cardiac Transplant Patient

Little data exist to identify pediatric patients who have developed transplant coronary artery vasculopathy (CAV). Transplant patients do not exhibit the usual signs of coronary disease, making diagnosis more difficult. The aim of this study is to assess the use of myocardial perfusion imaging to identify CAV in transplant patients and to derive an incidence of occurrence. We studied pediatric cardiac transplant recipients who have undergone myocardial perfusion imaging on a routine basis. All patients from September 1999 through November 2004 with nuclear perfusion scans were included. Twenty patients age 7–24 years (mean: 12.7), 11 male and 9 female, were studied by SPECT technetium 99M tetrofosmin imaging. Sixteen of the 20 patients were studied based on a newly instituted protocol for surveillance. Transplant was 1–14 years (mean: 7.9) earlier. Patients were also studied by stress echocardiography. Six of 20 patients (30%) had a positive perfusion scan. Ages ranged from 8 to 18 years (mean: 12). Time from transplant to positive scans ranged from 1 to 9 years (mean: 5.6). One patient showed the same perfusion defect as 2 years earlier. Five patients with positive nuclear perfusion scans showed the abnormality on the initial study; one had a previous negative study 6 months earlier. Four patients who demonstrated ischemia with exercise showed resolution at rest; the other two had no resting study. Five of these six patients with abnormal perfusion scans had negative stress echocardiograms. Only one patient identified with coronary involvement reported symptoms (exertional dyspnea). Hypertension and rejection episodes were similar in all patients and in those with positive nuclear scans. Of the six patients with positive nuclear perfusion scans, two demonstrated coronary disease at cardiac catheterization. Two patients with coronary disease at catheterization had normal nuclear perfusion scans; one of two had a normal stress echo. When three imaging modalities were used, the incidence of CAV was 30%. Symptoms in pediatric patients with CAV are seldom reported. Unfortunately, coronary arteriopathy occurs frequently and might be found as early as 1 year posttransplant. Six of 20 patients had abnormal perfusion; only 1 had any other noninvasive marker. Importantly, not all patients with CAV were identified by perfusion imaging, stress echocardiography, or coronary injection alone. Therefore, transplant patients need continued evaluation by multiple modalities for detection of developing coronary lesions.     

Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)

We report an infant diagnosed with Majewski osteodysplastic primordial dwarfism type II at age 8?months, who experienced cerebrovascular morbidities related to this entity. Molecular analysis identified c.2609+1 G>A, intron 14, homozygous splice site mutation in the pericentrin gene. At age 18?months, she developed recurrent strokes and hemiparesis. Brain magnetic resonance imaging and magnetic resonance angiography showed abnormal gyral pattern, cortical acute infarcts, bilateral stenosis of the internal carotid arteries and reduced flow on the cerebral arteries, consistent with moyamoya disease. In Majewski osteodysplastic primordial dwarfism type II, life expectancy is reduced because of high risk of stroke secondary to cerebral vascular anomalies (aneurysms, moyamoya disease). Periodic screening for vascular events is recommended in individuals with Majewski osteodysplastic primordial dwarfism type II every 12-18?months following diagnosis. Our patient was medically managed with low molecular weight heparin followed with aspirin prophylaxis, in addition to carbamazepine and physical rehabilitation. Conclusion: We report an infant with moyamoya disease and recurrent stroke presenting 10?months after diagnosis (at age 18?months), and discuss the outcome of nonsurgical medical management. The presented case is the second youngest case developing stroke and moyamoya disease.     

Evaluation of magnetic resonance angiography with selective maximum intensity projection in patients with childhood moyamoya disease.

To determine whether magnetic resonance angiography with selective maximum intensity projection can facilitate the detection of cerebral moyamoya vessels in patients with childhood moyamoya disease, six patients with moyamoya disease (6 to 9 years old) and ten controls (4 to 16 years old) were evaluated by means of high resolution magnetic resonance angiography (matrix 512x384) with/without selective maximum intensity projection, and conventional angiography. In the patients with moyamoya disease, moderate or marked moyamoya vessels were detected but underestimated in 2/12 hemispheres on magnetic resonance angiography without selective maximum intensity projection. On magnetic resonance angiography with selective maximum intensity projection, moyamoya vessels were correctly assessed in 11/12 hemispheres (92%). In the controls, bilateral mild moyamoya vessels were detected in eight of 20 hemispheres (four of ten patients, under 7 years old), which were compatible with normal lenticulostriate arteries. Magnetic resonance angiography with selective maximum intensity projection is an accurate modality for assessing moyamoya vessels in moyamoya disease.     

Moyamoya disease associated with hemophilia A. Case report

A 10-year-old boy who had been diagnosed as having hemophilia A presented with episodes of transient ischemic attack. Cerebral angiography showed occlusions of the bilateral anterior cerebral arteries and the right middle cerebral artery with the development of an abnormal vascular network. The patient was diagnosed as having moyamoya disease associated with hemophilia A and subsequently underwent multiple burr hole surgery for revascularization under sufficient factor VIII supplementation. He remained asymptomatic after surgery, and follow-up cerebral angiography 5 months after the operation demonstrated significant neovascularization through the burr holes. Multiple burr hole surgery is proposed as a method of choice for the treatment of moyamoya disease associated with a bleeding tendency.     

Moyamoya syndrome associated with hemolytic anemia due to Hb Alesha

Moyamoya angiopathy is a well-known complication of sickle cell disease but has rarely been observed in other hemoglobinopathies. The authors describe a previously unreported association of hemolytic anemia due to a rare unstable hemoglobinopathy with abnormal oxygen affinity (Hb Alesha) and moyamoya syndrome in a 10-year-old girl. At age 4 she had recurrent migraine-with-aura-like symptoms. Cranial MRI, Doppler, and EEG examinations were not conclusive. Deterioration of her neurologic symptoms prompted a renewed EEG examination at 10 years of age, which revealed a re-buildup phenomenon. MRI and MR angiography now showed moyamoya angiopathy with stenotic and occlusive lesions of both internal carotid and middle cerebral arteries. Conventional angiography confirmed these findings. Reperfusion with three extra-intracranial bypasses terminated the transient ischemic attacks. The authors suggest that chronic hypoxemia may be the cause of occlusive moyamoya angiopathy in Hb Alesha and possibly other unstable hemoglobinopathies with altered oxygen affinity.     

Long-term outcomes of pediatric moyamoya disease treated by encephalo-duro-arterio-synangiosis

To investigate the efficacy of encephalo-duro-arterio-synangiosis (EDAS) for the treatment of pediatric moyamoya disease, we analyzed 11 patients who were followed up for more than 100 months. Among 22 sides in 11 patients, we performed EDAS on 16 sides in 10 pa- tients, encephalo-duro-arterio-myo-synangiosis (EDAMS) on 5 sides in 4 patients and encephalo-myo-synangiosis (EMS) on 1 side. Of the 11 patients, 8 patients showed normal development and had no neurological deficit. The remaining 3 patients showed mild to moderate neurological deficits, but in these cases, pre- and perioperative insults were considered to be attributable to the morbidities. Of 13 sides treated by EDAS, well-developed neovascularization was observed in 12. However, well-developed neovascularization was observed in only 3 out of 6 sides treated by EMS or EDAMS. These data might indicate that EDAS is a therapeutic alternative for the surgical treatment of pediatric moyamoya disease.     

Intracranial vascular abnormalities in patients with Alagille syndrome

OBJECTIVES: To define the spectrum of intracranial events and cerebrovascular lesions in patients with Alagille syndrome using magnetic resonance imaging with angiography of the head and medical histories and to correlate the presence of lesions with the clinical outcome of bleeding or ischemic intracranial events. METHODS: 26 patients with Alagille syndrome underwent magnetic resonance imaging with angiography of the head; 22 had no symptoms and underwent study for screening purposes and 4 were symptomatic with neurologic changes. The results of studies and the history of ischemic intracranial events were reviewed. RESULTS: Cerebrovascular abnormalities were detected in 10 of 26 (38%) patients (9 by head magnetic resonance imaging with angiography and 1 by necropsy). The findings included stenoses of the internal carotid arteries unilaterally (n = 5) or bilaterally (n = 3), basilar artery aneurysm (n = 1) and middle cerebral artery aneurysm (n = 1). Among the 9 patients with cerebrovascular abnormalities detected by magnetic resonance imaging with angiography, 5 had no symptoms (23%, 5 of 22) and 4 were symptomatic. Thus, 100% of symptomatic patients had detected abnormalities and 23% of screened, asymptomatic patients had detected anomalies. Screening magnetic resonance imaging with angiography failed to detect vascular anomalies in 2 asymptomatic patients who had fatal ischemic intracranial events years later. There was evidence of progression of vascular abnormalities in 4 patients. Ischemic intracranial events occurred in 10 of 26 (38%) patients and were associated with cerebrovascular abnormalities in 6 of 10 patients. CONCLUSION: The cerebral vasculopathy of Alagille syndrome predominantly involves the internal carotid arteries. It is more prevalent than would be suggested by the number of symptomatic individuals, appears to be progressive and shares many similarities with moyamoya. Magnetic resonance imaging with angiography is useful to detect these lesions and may have a valuable role in screening for treatable lesions such as aneurysms.     

Moyamoya syndrome after prophylactic cranial irradiation for acute lymphocytic leukemia

A 9-year-old boy presented with an episode of syncope, and MR imaging revealed bilateral internal carotid artery stenosis with moyamoya vessel formation. He had had prophylactic cranial irradiation at a total dose of 24 Gy for the treatment of acute lymphocytic leukemia at the age of 4. Following this, he was in a complete state of remission for 6 years. During an observation period of a year after the onset of syncope, MR imaging showed development of multiple ischemic lesions in both hemispheres. He developed a transient ischemic attack of mild motor weakness in his arm and an indirect anastomosis was performed on the severely affected side at the age of 10. Radiation-induced vasculopathies are known to be associated with primary diseases of intracranial tumors, but the frequency is unclear. Ours is the third case in whom prophylactic cranial irradiation for a hematological disorder might have induced cerebral vasculopathies.     

Aortocarotid bypass for hemispheric hypoperfusion in a child

Large-vessel vasculitis syndromes in the pediatric population are rare and highly morbid. The authors here report on the microsurgical revascularization of a unique case of presumed vasculitis with aortitis and severe obliterative arteriopathy in a 10-month-old child with symptomatic hemispheric hypoperfusion. Using a cryopreserved saphenous vein, this unilateral aortocarotid bypass restored normal intracranial perfusion bilaterally and led to a resolution of the patient's ischemic symptoms. The aortocarotid bypass is clinically effective and technically feasible in young children when a saphenous vein allograft is used. The bypass graft is amenable to angioplasty with or without stenting if delayed stenosis becomes an issue later in life.