RESUMEN
BACKGROUND: Dilated cardiomyopathy (DCM) is a clinically common and refractory disease; however, few cases of dilated cardiomyopathy have been reported in patients with moyamoya diseases treated by combining traditional Chinese Medicine (TCM) and Western medicine, which has a higher risk of rehabilitation. CASE SUMMARY: A 31-year-old man was admitted due to paroxysmal chest tightness and shortness of breath. He denied a history of DCM, hypertension, diabetes, pericarditis, smoking, and alcohol consumption. On admission, his transesophageal echocardiography (Fig. 1A) showed the larger heart with poor myocardial systolic function (left ventricular end diastolic diameter [LVEDd] 60 mm, left ventricular ejection fraction [LVEF] 38% [Teich]). On day 14 of admission, heart-related indicators were better than before. CONCLUSION: The present case is the first report demonstrating appearance the dilated cardiomyopathy (DCM) and moyamoya disease simultaneously in a 31-year-old Chinese man, aimed to report the treatment of such patients using a combination of TCM and Western medicine and analyzing the necessity and advantages of using this treatment for patients suffering from DCM and moyamoya disease, so as to improve the level of clinical diagnosis and treatment of such diseases.
Asunto(s)
Cardiomiopatía Dilatada , Enfermedad de Moyamoya , Masculino , Humanos , Adulto , Cardiomiopatía Dilatada/tratamiento farmacológico , Volumen Sistólico , Función Ventricular Izquierda , Enfermedad de Moyamoya/diagnóstico , Enfermedad de Moyamoya/diagnóstico por imagen , Pueblos del Este de AsiaRESUMEN
Ring finger protein (RNF) 213 is known as a susceptibility gene for moyamoya disease (MMD), which is characterized by bilateral carotid folk stenosis. Cerebral angiopathy after viral infection has been known to present angiographical appearance resembling MMD, however its pathogenesis and genetic background are not well known. We report a case of reversible cerebral angiopathy after viral infection in a pediatric patient with genetic variant of RNF213 mutation. The patient had developed a severe headache after hand, foot, and mouth disease. Magnetic resonance imaging and magnetic resonance angiography (MRA) performed 2-3 weeks after disease onset revealed bilateral carotid folk stenosis and an old cerebral infarction in the left putamen. The patient's headache spontaneously resolved and the follow-up MRA showed a complete spontaneous resolution of the arterial stenosis after 9 months. We were able to determine genetic predisposition to angiopathy by identifying the RNF213 c.14576G>A (rs112735431, p.R4859K) mutation. Based on the present case, we hypothesize that an RNF213 variant might play an important role for the onset of postviral cerebral angiopathy.
Asunto(s)
Adenosina Trifosfatasas/genética , Estenosis Carotídea/genética , Infarto Cerebral/genética , Enfermedad de Boca, Mano y Pie/virología , Enfermedad de Moyamoya/genética , Mutación , Putamen/irrigación sanguínea , Ubiquitina-Proteína Ligasas/genética , Estenosis Carotídea/diagnóstico por imagen , Estenosis Carotídea/virología , Infarto Cerebral/diagnóstico por imagen , Infarto Cerebral/virología , Niño , Predisposición Genética a la Enfermedad , Enfermedad de Boca, Mano y Pie/complicaciones , Enfermedad de Boca, Mano y Pie/diagnóstico , Humanos , Masculino , Enfermedad de Moyamoya/complicaciones , Enfermedad de Moyamoya/diagnóstico , Factores de RiesgoAsunto(s)
Infarto Encefálico/diagnóstico , Enfermedad de Moyamoya/diagnóstico , Neuromielitis Óptica/diagnóstico , Adulto , Infarto Encefálico/etiología , Infarto Encefálico/terapia , Diagnóstico Diferencial , Femenino , Humanos , Enfermedad de Moyamoya/complicaciones , Enfermedad de Moyamoya/terapia , Neuromielitis Óptica/complicaciones , Neuromielitis Óptica/terapia , Tálamo/diagnóstico por imagenRESUMEN
Arterial spin labeling (ASL) magnetic resonance imaging (MRI) is a technique for depicting cerebral perfusion without contrast medium. The purpose of this study was to determine whether ASL can be used to detect hyperperfusion after revascularization for moyamoya disease as effectively as N-isopropyl-[123I]ß-iodoamphetamine ((123)I-IMP) single-photon emission computed tomography (SPECT). Fifteen consecutive patients with moyamoya disease were included in the study. All patients underwent surgical revascularization. Postoperatively, regional cerebral blood flow (rCBF) was measured by flow-sensitive alternating inversion recovery (FAIR) ASL and (123)I-IMP SPECT during the acute stage, and rCBF of the operative side was compared with the other side. The asymmetry ratio (AR) was then calculated from the rCBF as measured using each modality. The postoperative AR of ASL was moderately correlated with that of (123)I-IMP SPECT (y = 0.180x + 0.819; R = 0.80; P = .0003). In this series, 2 patients (13.3%) suffered symptomatic hyperperfusion after revascularization and accordingly exhibited increased AR of ASL. Our data indicate that early increases in rCBF in patients with hyperperfusion could be detected using FAIR ASL supplemental to (123)I-IMP SPECT after revascularization. Our data indicate that FAIR ASL is a convenient method for evaluating hyperperfusion that can be performed repeatedly without the use of contrast medium or radioisotopes.
Asunto(s)
Arterias Cerebrales/cirugía , Revascularización Cerebral , Circulación Cerebrovascular , Imagen por Resonancia Magnética , Enfermedad de Moyamoya/cirugía , Imagen de Perfusión Miocárdica/métodos , Marcadores de Spin , Adolescente , Adulto , Presión Sanguínea , Edema Encefálico/diagnóstico , Edema Encefálico/fisiopatología , Arterias Cerebrales/diagnóstico por imagen , Arterias Cerebrales/fisiopatología , Revascularización Cerebral/efectos adversos , Niño , Preescolar , Femenino , Humanos , Yofetamina , Angiografía por Resonancia Magnética , Masculino , Persona de Mediana Edad , Enfermedad de Moyamoya/diagnóstico , Enfermedad de Moyamoya/fisiopatología , Valor Predictivo de las Pruebas , Radiografía , Radiofármacos , Factores de Tiempo , Tomografía Computarizada de Emisión de Fotón Único , Resultado del Tratamiento , Adulto JovenRESUMEN
The authors present the case of a 6-year-old girl with typical absence epilepsy induced by hyperventilation associated with moyamoya disease (MMD). A diffuse 3-Hz spike-and-wave complex induced by hyperventilation was apparent on an electroencephalogram, and her seizures were intractable to medication. Significant ischemia in the bilateral frontal lobes was present. The epilepsy disappeared after superficial temporal artery-middle cerebral artery anastomosis with encephalomyosynangiosis on both sides. In the treatment of children with intractable absence epilepsy, the possibility of underlying MMD and indications that revascularization surgery may be needed should be taken into consideration.
Asunto(s)
Electroencefalografía , Epilepsia Tipo Ausencia/diagnóstico , Enfermedad de Moyamoya/diagnóstico , Anticonvulsivantes/uso terapéutico , Aspirina/uso terapéutico , Arteria Carótida Interna/cirugía , Estenosis Carotídea/diagnóstico , Estenosis Carotídea/cirugía , Angiografía Cerebral , Infarto Cerebral/diagnóstico , Infarto Cerebral/cirugía , Revascularización Cerebral , Niño , Preescolar , Terapia Combinada , Resistencia a Medicamentos , Epilepsia Tipo Ausencia/cirugía , Femenino , Estudios de Seguimiento , Lóbulo Frontal/irrigación sanguínea , Humanos , Enfermedad de Moyamoya/cirugía , Complicaciones Posoperatorias/diagnóstico , Tomografía Computarizada de Emisión de Fotón Único , Ácido Valproico/uso terapéuticoRESUMEN
A 45-year-old woman presented with subacute encephalopathy due to autoimmune Graves disease. MR angiography (MRA) demonstrated stenosis of the major intracerebral arteries. After high-dose methylprednisolone therapy and plasmapheresis, her neurologic status improved dramatically, and the MRA findings resolved after 3 months. The angiographic findings in Graves disease that resemble those in Moyamoya disease are temporary.
Asunto(s)
Enfermedades Arteriales Cerebrales/diagnóstico , Enfermedad de Graves/diagnóstico , Hipoxia-Isquemia Encefálica/diagnóstico , Angiografía por Resonancia Magnética , Enfermedades Arteriales Cerebrales/terapia , Terapia Combinada , Constricción Patológica , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Enfermedad de Graves/terapia , Humanos , Hipoxia-Isquemia Encefálica/terapia , Radioisótopos de Yodo/uso terapéutico , Persona de Mediana Edad , Enfermedad de Moyamoya/diagnóstico , Examen Neurológico , Plasmaféresis , Prednisolona/uso terapéuticoRESUMEN
31P-MRS and 31P-Chemical Shift Image(CSI) using volume coil were applied to Moyamoya disease of 14 cases, data of which were compared with clinical manifestations and neuroimagings. In four asymptomatic cases, signal intensity of both total P and total ATP was almost equal in each voxel, but in other cases, both signal intensity of the lesion was relatively decreased, compared with non-lesion. Especially, signal intensity of total P and total ATP in ischemic lesion was significantly decreased. This showed that 31P-CSI is able to demonstrate cerebral ischemic lesion not detected by CT and MRI. We have reported on Moyamoya disease that 31P-MRS comparatively correlates to cerebral blood flow and 31P-CSI demonstrates ischemic lesion as not detected by CT and MRI less invasively.