A Case of Moyamoya Syndrome Diagnosed by Ophthalmic Examination in a Patient with Moyamoya Disease

PURPOSE: To report a case of moyamoya syndrome after an additional diagnosis of neurofibromatosis type 1 (NF 1) using an ophthalmic examination in a middle-aged patient with moyamoya disease. CASE SUMMARY: A 60-year-old male with no specific past medical history except moyamoya disease visited our hospital for an ophthalmic examination. Two years prior, he had been diagnosed with moyamoya disease by brain imaging performed after a head trauma. At the first visit, his best corrected visual acuity was no light perception in the right eye (OD) and 20/25 in the left eye (OS). The intraocular pressure was 8 mmHg (OD) and 10 mmHg (OS). On fundus examination, the right eye showed a dense opacity of an ocular media and the left eye showed no abnormality except an increased cup-to-disc ratio. However, infrared imaging showed multiple whitish lesions in the left eye. Fluorescein angiography showed a patchy choroidal filling delay. During the follow-up, slit-lamp microscopy revealed Lisch nodules and multiple café au lait spots and neurofibromas were found in the skin which led to the diagnosis of NF 1. CONCLUSIONS: When examining patients with moyamoya disease, ophthalmologists should check not only ocular comorbidity associated with moyamoya disease but also ocular comorbidity with other systemic diseases that can accompany moyamoya disease. NF 1 is the most common systemic disease associated with moyamoya syndrome. In this case, appropriate follow-up was essential to monitor the development of ocular or systemic vasculopathies and their complications.

Revascularization of Concurrent Renal and Cerebral Artery Stenosis in a 14-Year-Old Girl with Takayasu Arteritis and Moyamoya Syndrome

Concurrent involvement of bilateral renal and cerebral arteries, usually incurred as stenosis, is rare in childhood-onset Takayasu arteritis (c-TA). We report the case of a 14-year-old girl, with c-TA, presenting with transient ischemic attack after endovascular revascularization for renal artery stenosis and cerebrovascular stroke after surgical revascularization for cerebral artery stenosis associated with childhood-onset moyamoya syndrome. We deem that decrease of blood pressure by endovascular revascularization and improvement of cerebral perfusion by surgical revascularization may have jeopardized the cerebral deep watershed zone to cerebral ischemia followed by cerebral hyperperfusion syndrome and caused transient ischemic attack and cerebrovascular stroke in our patient. Revascularization could be a double-edge sword for c-TA patients presenting with concomitant renal artery stenosis and cerebral artery stenosis, and should be performed with caution. Quantitative analysis of cerebral blood flow by brain magnetic resonance imaging and angiography should be performed within 48 hours after surgical revascularization in c-TA.

Rupture of a Middle Meningeal Artery Pseudoaneurysm in Moyamoya Syndrome Related with Tuberculous Meningitis

We report a rare case of a patient with Moyamoya syndrome who presented with intracerebral hemorrhage resulting from rupture of a middle meningeal artery pseudoaneurysm. This 38-year-old woman was unconscious and hemiplegic when she was admitted to our hospital. The patient had mental retardation as a result of tuberculous meningitis infection at the age of one year. On radiologic examination, she had intracerebral hemorrhage in the right temporo-parietal lobe and an aneurysm in the middle meningeal artery with right internal carotid artery occlusion. The patient underwent surgical treatment for the hemorrhage and aneurysm. The radiologic data, intraoperative findings, and pathology were consistent with a diagnosis of pseudoaneurysm. In the current report, we describe a rare case of a patient with a history of tuberculous meningitis who developed Moyamoya syndrome and pseudoaneurysm, which resulted in a ruptured middle meningeal artery pseudoaneurysm and brain hemorrhage.

Coexistence of Radiation-Induced Meningioma and Moyamoya Syndrome 10 Years after Irradiation against Medulloblastoma: a Case Report

Radiotherapy is one of the standard treatments for medulloblastoma. However, therapeutic central nervous system irradiation in children may carry delayed side effects, such as radiation-induced tumor and vasculopathy. Here, we report the first case of coexisting meningioma and moyamoya syndrome, presenting 10 years after radiotherapy for medulloblastoma. A 13-year-old boy presented with an enhancing mass at the cerebral falx on magnetic resonance imaging (MRI) after surgery, radiotherapy (30.6 Gy craniospinal axis, 19.8 Gy posterior fossa) and chemotherapy against medulloblastoma 10 years ago, previously. The second tumor was meningioma. On postoperative day 5, he complained of right-sided motor weakness, motor dysphasia, dysarthria, and dysphagia. MRI revealed acute cerebral infarction in the left frontal lobe and both basal ganglia. MR and cerebral angiography confirmed underlying moyamoya syndrome. Four months after the meningioma surgery, the patient presented with headaches, dysarthria, and dizziness. Indirect bypass surgery was performed. He has been free from headaches since one month after the surgery. For patients who received radiotherapy for medulloblastoma at a young age, clinicians should consider the possibility of the coexistence of several complications. Careful follow up for development of secondary tumor and delayed vasculopathy is required.

Enfermedad de moyamoya: presentación de un caso y discusión / Moyamoya Disease: Case Report and Discussion

La enfermedad de moyamoya es una rara afección cerebrovascular, caracterizada por estenosis bilateral de la carótida interna en su porción terminal y por el desarrollo de vasculatura colateral anormal en la base del cerebro, secundario a un proceso isquémico. Su etiología es desconocida, pero se cree que es un trastorno genético. En el presente artículo, a propósito de un caso clínico de un paciente masculino de 24 años de edad con diagnóstico de esta enfermedad luego de un trauma craneano, se presenta una revisión corta de la bibliografía actual en cuanto al diagnóstico por imágenes de la enfermedad de moyamoya.

Moyamoya disease is a rare cerebrovascular disease characterized by bilateral internal carotid artery stenosis in its terminal portion and by the development of abnormal collateral vasculature in the base of the brain, secondary to an ischemic process. Its etiology is unknown, but it is believed to be a genetic disorder. The purpose of this article is a short review of the current literature of diagnostic imaging of moyamoya disease regarding the case of a 24 year old male patient with this condition, diagnosed after head trauma.

HR-MRI wall imaging study of Moyamoya disease and atherosclerotic Moyamoya syndrome in adult patients / 第二军医大学学报

Objective To analyze the high resolutionmagnetic resonance imaging (HR-MRI) findings of middle cerebral artery (MCA) vessel wall forMoyamoya disease (MMD) and atheroscleroticMoyamoya syndrome (AS-MMS), and to explore the diagnostic value of HR-MRI for MMD. Methods We selected 24 MMD patients (MMD group) and 24 AS-MMS patients (AS-MMD group) from Changhii Hospital. HR-MRI comparison was made for the difference between the two groups concerning the ages and risk factors, including episode style, history of diabetes, hyperlipaemia, hypertension and stroke. 3. 0T HR-MRI enhanced scanning was performed for MCA vessel wall changes in all patients. Then the inner and outer diameters of MCA, wall thickness, signal intensity of vessel wall, enhancement effect, microvascular adjacent to MCA and its remodeling index (RI) were analyzed. The outer diameters of two groups were analyzed by the receiver operating characteristic (ROC) curve. Results We found that ages and risk factors were significantly different between the MMD and AS-MMS groups (P< 0. 05). The MCA outer diameter was significantly smaller in MMD group than that in the AS-MMS group ([2. 70 ± 0. 44] mm vs [3. 31 ± 0. 54] mm, P<0. 05), but the wall thickness was significantly thicker than that in the AS-MMS group ([1. 99 ± 0.32] mm vs [1. 39 ± 0. 57] mm, P <0.05). The focal enhancement of MCA arterial wall in AS-MMS group was more commonly seen than that in MMD group (50. 00d vs 33. 33d, P<0. 05). Compared with AS-MMS group, the RI in MMD group was mostly negative remodeling (79. 17d vs 25. 00d, P<0. 05), with the average RI significantly decreased ([0. 86 ±0.12] vs [1. 05 ± 0. 21], P<0. 05) and the occlusion incidence of microvascular adjacent significantly increased (83. 33d vs 24. 17d, P%0. 05). ROC curve showed when the threshold value of MCA outer diameter was 3. 13 mm, the differential diagnosis had a 90. 7% sensitivity and a 64. 0% specificity. Conclusion HR-MRI has an important value for differential diagnosis of MMD and AS MMS. The arterial wall of MCA in MMD patients undergoes shrinkage and negative remodeling. The outer diameter is often less than 3. 13 mm with concentric stenosis, and the arterial wall has no enhancement or concentric enhancement, with microvascular adjacent to MCA more commonly seen in MMD group.

Moyamoya Syndrome: A Window of Moyamoya Disease

Moyamoya-like vasculopathy develops in association with various systemic diseases and conditions, which is termed moyamoya syndrome. Relatively common diseases and conditions are related to moyamoya syndrome, including neurofibromatosis type 1, Down syndrome, thyroid disease, and cranial irradiation. Moyamoya syndrome shares phenotypical characteristics with idiopathic moyamoya disease. However, they differ in other details, including clinical presentations, natural history, and treatment considerations. The study of moyamoya syndrome can provide clinicians and researchers with valuable knowledge and insight. Although it is infrequently encountered in clinical practice, moyamoya-like vasculopathy can severely complicate outcomes for patients with various underlying diseases when the clinician fails to expect or diagnose moyamoya syndrome development. Furthermore, moyamoya syndrome could be used as a doorway to more enigmatic moyamoya disease in research. More comprehensive survey and investigation are required to uncover the secrets of all the moyamoya-like phenomena.

Efficacy analysis of revascularization in moyamoya disease complicated with Graves′ disease / 中国脑血管病杂志

Objective To investigate the clinical features of moyamoya disease complicated with Graves′disease and the efficacy of extra-and intra-cranial revascularization. Methods The clinical data of 4 patients with moyamoya disease complicated with Graves′disease were analyzed retrospectively. Among them,three were females and one was a male. Their mean age was 32 ± 7 years. After medical treatment, their thyroid function was normal. The patients were treated with superficial temporal artery-middle cerebral artery bypass grafting. Results (1) Three patients showed cerebral infarction and one showed frequent transient ischemic attack. DSA confirmed that 2 patients had unilateral moyamoya disease and 2 had bilateral moyamoya disease. Head MRI revealed brain infarcts. (2) The thyroid function was normal after drug treat-ment,the symptoms of moyamoya disease were stable in 3 cases. One patient had high metabolic symptoms, such as high fever and accelerated heart rate within one week after procedure. The patients were followedup for 6 to 18 months,one was good,3 were excellent,and there was no recurrence of Graves′disease. Postoperative head MRI revealed that the 4 patients did not have new brain infarcts. MRA showed that the arterial filling in cerebral sulci in the ischemic lesion areas was obviously improved compared with that before procedure. Retrograde filling of the ipsilateral middle cerebral artery M2-M3 segment was observed in 2 patients. Postoperative single photon emission computed tomography perfusion imaging revealed that the ischemic perfusion lesions on the operated sides were obviously improved compared with those before procedure. Conclusion When complicated with Graves′ disease,the symptoms of moyamoya disease will aggravate. It manifests as acute and chronic cerebral ischemia. After controlling the symptoms of hyperthyroidism,most cerebral ischemic symptoms can be alleviated. Superficial temporal artery-middle cerebral artery bypass grafting may establish an effective collateral circulation and improve the clinical symptoms.

Progressive Moyamoya Syndrome Associated with Paroxysmal Nocturnal Hemoglobinuria

A 31-year-old female with paroxysmal nocturnal hemoglobinuria (PNH) presented with left hemiparesis. One year prior to this presentation she had been diagnosed with bihemispheric cerebral infarctions associated with moyamoya syndrome. During her current presentation, MRI revealed acute infarction of the right hemisphere and MRA revealed occlusion of the right internal carotid artery (ICA), and aggravation of the preexisting stenosis of the contralateral ICA and ipsilateral posterior cerebral artery compared to the previous MRA. We report herein a case of progressive moyamoya syndrome associated with PNH.

Síndrome moyamoya y enfermedad de Graves en una mujer joven / Moyamoya syndrome and Graves' disease in a young woman

Resumen Introducción: la enfermedad y el síndrome moyamoya son entidades cerebrovasculares caracterizadas por la estenosis u oclusión de la porción terminal de la arteria carótida interna y la porción proximal de las arterias cerebrales media y anterior, acompañada por la formación de vasos colaterales en forma de red. La enfermedad de Graves es una tiroiditis autoinmune de origen desconocido y es la causa más común de hipertiroidismo. La asociación de estas dos enfermedades es rara. Caso clínico: mujer de 27 años de edad hospitalizada por un infarto cerebral e hipertiroidismo debido a enfermedad de Graves. Las imágenes diagnósticas identificaron un infarto cerebral extenso temporoparietal derecho en territorio de la arteria cerebral media. Además, se evidenció la estenosis de la porción supraclinoidea de la arteria carótida interna derecha y de la porción proximal de las arterias cerebral media y anterior derechas, sin presencia de vasos colaterales. Inicialmente, fue tratada con antitiroideos y esteroides. Requirió dos tratamientos con yodo radiactivo para controlar el hipertiroidismo. La lesión cerebral le dejó como secuelas déficit motor y sensitivo izquierdos y una epilepsia focal sintomática controlada con medicación. Actualmente recibe terapia de suplencia tiroidea y anticonvulsivante. El seguimiento angiográfico cerebral demostró aumento de la estenosis de los vasos cerebrales afectados sin evidencia de nuevas lesiones cerebrales. Conclusiones: los pacientes con hipertiroidismo secundario a la enfermedad de Graves y manifestaciones clínicas neurológicas focales agudas deben investigarse para un posible síndrome moyamoya. (Acta Med Colomb 2013; 38: 262-267).

Abstract Introduction: the disease and moyamoya syndrome are cerebrovascular entities characterized by stenosis or occlusion of the terminal portion of the internal carotid artery and the proximal portion of the middle and anterior cerebral arteries, accompanied by the formation of collateral vessels in the form of network. Graves' disease is an autoimmune thyroiditis of unknown origin and is the most common cause of hyperthyroidism. The association of these two diseases is rare. Case report: 27 year-old woman hospitalized for a stroke and hyperthyroidism due to Graves' disease. Diagnostic imaging identified a large right temporoparietal infarct in the territory of the middle cerebral artery. Additionally, stenosis of the supraclinoid portion of the right internal carotid artery and the proximal portion of the anterior and middle right cerebral arteries without the presence of collateral vessels, was evidenced. Initially, she was treated with antithyroid drugs and steroids. Two treatments with radioactive iodine to control hyperthyroidism were needed. The brain injury left sequelae of left motor and sensory deficits and symptomatic focal epilepsy, controlled by medication. She is currently receiving thyroid substitution therapy and anticonvulsant therapy. Angiographic follow-up showed increased vessel stenosis of the cerebral affected vessels without evidence of new brain lesions. Conclusions: patients with hyperthyroidism secondary to Graves' disease and acute focal neurological manifestations should be investigated for possible moyamoya syndrome. (Acta Med Colomb 2013; 38: 262-267).

Enfermedad de moyamoya, macrocefalia y déficit intelectual en un adolescente / Moyamoya disease, macrocephaly and intellectual impairment in an adolescent

El patrón moyamoya se caracteriza por un estrechamiento crónico progresivo de la porción terminal de la arteria carótida interna o sus principales ramas terminales principalmente. Los niños con moyamoya típicamente se presentan con ictus arteriales isquémicos, o con accidentes isquémicos transitorios. Se presenta el caso clínico de un adolescente, con déficit intelectual y macrocránea, con evidencia en los estudios de resonancia magnética nuclear cerebral de infartos arteriales isquémicos a repetición, e imágenes sugestivas de moyamoya, y se comprueba el patrón moyamoya por angiografía de sustracción digital. Comprobado el diagnóstico de enfermedad de moyamoya, el objetivo con este enfermo fue tratar de mejorar la irrigación cerebral, planteando la necesidad de someter al paciente a cirugía de revascularización, y, mientras esto no fuera posible, usar aspirina como antiagregante plaquetario, en un intento de impedir o disminuir el riesgo de nuevos infartos cerebrales o de accidentes transitorios isquémicos a repetición.

The moyamoya pattern is characterized by chronic progressive narrowing of the terminal portion of the internal carotid artery or of its main terminal branches. Children suffering moyamoya disease regularly present with ischemic arterial ictus or transient ischemic strokes. Here is the case of an adolescent with intellectual impairment and macrocrania. The magnetic resonance imaging study of his brain showed repeated ischemic arterial infarctions and images suggestive of moyamoya disease, the pattern of which was later confirmed by digital subtraction angiography. The first objective was to intend to improve his cerebral irrigation by performing a revascularization surgery, but as long as this action was not accomplished, then taking aspirin as anti-platelet aggregation drug could prevent or reduce the risk of new cerebral infarctions or of repeated transient ischemic strokes.

A Suprasellar Cystic Germ Cell Tumor Initially Diagnosed as an Arachnoid Cyst

We report here the case of a suprasellar cystic germ cell tumor (GCT) initially diagnosed as an arachnoid cyst. A 10-year-old boy experienced headache, dizziness, and diplopia, and was shown to have an approximately 2 cm suprasellar cyst. Two months after endoscopic third ventriculostomy was performed, a 5-6 cm cystic mass with an internal enhancing component was observed in the suprasellar cistern. Serum human chorionic gonadotropin levels were slightly increased in the serum and cerebrospinal fluid (55 and 162 IU/L, respectively) but were strikingly elevated in the cystic fluid (14,040 IU/L). The patient showed complete remission, with only a very small cystic lesion remaining after surgery, chemotherapy, and radiation treatment for a suprasellar mixed GCT. However, follow-up after treatment was complicated by moyamoya syndrome and cerebral infarction. GCT can be considered as a rare differential diagnosis in the case of a suprasellar cystic mass. Evaluation of tumor markers and close follow-up will be necessary.

Síndrome de Moyamoya y complicaciones neurológicas en un paciente con enfermedad de células falciforme / Moyamoya syndrome and neurological complications in a patient with sickle cell disease

La enfermedad de células falciformes, aunque infrecuente, es una patología con una alta comorbilidad; el ataque cerebrovascular (ACV) y las malformaciones vasculares por deformidad endotelial, son complicaciones mayores y catastróficas en las pacientes con alteraciones falciformes, es por esto que el adecuado seguimiento de estos pacientes permite prevenir la alta tasa de complicaciones que esta enfermedad conlleva. Se presenta el caso de una mujer de raza negra de 24 años con enfermedad de células falciformes, con infartos cerebrales en la adolescencia y quien durante su gestación se complica con hemorragia intraventricular secundaria a múltiples malformaciones vasculares tipo Moyamoya, desarrollando un estado epiléptico convulsivo y deterioro neurológico irreversible.

Sickle cell disease, although infrequent, is a disease with high comorbidity, stroke and vascular malformations by endothelial deformity are major and catastrophic complications in patients with sickle cell disease, which is why proper monitoring of these patients can prevent the high rate of complications that this disease leads. The situation of a 24 years old african-american woman with sickle cell disease and several strokes during adolescence is exposed. The patient had a complicated pregnancy due to secondary intraventricular hemorrhage and multiple vascular malformations type Moyamoya. She developed a convulsive status epilepticus and an irreversible neurological impairment.

Moyamoya Syndrome Precipitated by Cranial Irradiation for Craniopharyngioma in Children

Recently, combination of surgery and radiation therapy (RT) has been recommended in the treatment of craniopharyngioma. RT could be associated with late complications, including vasculopathy. We report two cases of the moyamoya syndrome seen in children with craniopharyngioma who received RT after surgical resection. Thirty-five patients in pediatric age with craniopharyngioma were surgically treated. Fifteen out of 35 patients underwent surgical resection followed by RT or gamma knife surgery. Two of the 15 were found to have symptoms of transient ischemic attack and were diagnosed as moyamoya syndrome through the cerebral angiography. Age at RT was 4 and 13 years, respectively. The latent period for development of the moyamoya syndrome was 27 months and 3 years, respectively, after RT. The RT dose of both patients was 54 Gy. These two patients received bilateral encephaloduroarteriosynangiosis procedures. We report here these two cases of radiation-induced moyamoya syndrome in pediatric craniopharyngioma. Pediatric patients with craniopharyngioma who received RT should be reminded, during follow-up, about the risk of development of the moyamoya syndrome.

Moyamoya Syndrome Following Tuberculous Meningitis

While it is generally considered that tuberculous meningitis (TBM) causes various vascular complications, there have been few reports of moyamoya syndrome following TBM. A 23-year-old female was diagnosed as TBM. Preliminary brain MRA yielded normal findings. Follow-up MRA and cerebral angiography conducted 1.5 years later yielded findings that were consistent with moyamoya disease. They showed no interval change after 2 years, and the patient had no neurological deficits. This patient with TBM subsequently developed moyamoya syndrome during the course of antituberculosis medication.

Clinical analysis of patients with moyamoya disease complicating hyperthyroidism / 中国脑血管病杂志

Objective: To investigate the clinical features, pathogenesis and the effect of surgical and medical treatment of patients with moyamoya disease complicating hyperthyroidism. Methods: The clinical data of 11 patients with moyamoya disease complicating hyperthyroidism were analyzed retrospectively, 10 of them were diagnosed by digital substraction angiography (DSA), and 1 was diagnosed by magnetic resonance angiography. All the patients met the diagnostic criteria of hyperthyroidism. After controlling hyperthyroidism, 8 patients underwent encephalo-duro-arterio-synangiosis, the other 3 were only given drugs to control hyperthyroidism. Results: Circled digit oneTen of the 11 patients (8 females) showed thyroid dysfunction, with increased 3,5,3′- triiodothyronine (T3) and thyroxine (T4), and the decreased thyroid stimulating hormone (TSH). Circled digit twoNine of the 11 patients showed cerebral infarction, 1 showed intraventricular hemorrhage and 1 did not found any abnormality in imaging findings. Ten patients had bilateral lesions and 1 had unilateral lesions. Circled digit threeEleven patients were followed-up for 11-102 months. Except 1 patient left mental decline and slow reaction, the symptoms of others were relieved or disappeared after the treatment. After encephalo-duro-arterio-synangiosis, 8 patients did not have any surgical complications, 6 of them conducted postoperative angiography (10-26 months) and all showed a great deal of compensatory blood supply from extracranial to intracranial arteries. Conclusion: Moyamoya disease complicating hyperthyroidism is mostly occured in female patients and their clinical symptoms are mainly cerebral infarction. The pathogenesis of moyamoya disease complicating hyperthyroidism remains unclear. It may be associated with a variety of genetic and immune factors. After controlling hyperthyroidism, surgical treatment can establish effective collateral circulation and reduce the risk of recurrence of stroke.

Moyamoya Syndrome Associated With Hashimoto's Thyroiditis

Autoimmune thyroid disease associated with Moyamoya syndrome has mostly been reported as Graves' disease, and not as Hashimoto's thyroiditis. We report a case of a 70-year-old man with right posterior cerebral artery territorial infarction and bilateral distal internal carotid artery occlusion, which suggests Moyamoya syndrome, but who was diagnosed as Hashimoto's thyroiditis.