모야모야 뇌경색의 orthomolecular medicine - 정리중..

[문형철]

모야모야 병은 청소년기에 뇌혈관(supraclinoid internal carotid artery and proximal portions of the anterior and middle cerebral arteries)이 만성, 진행성으로 막혀 뇌경색 증상이 나타나는 질병이다.

가까운 지인 딸이 모야모야 병 진단을 받았다고 한다.

최신 논문으로 해결책을 찾아봐야겠다!!

1) 이 환자들의 혈액검사상 비타민 b12가 부족함

2) 케톤체 대사가 신경퇴행을 막음

3) 모야모야 병과 호모시스테인 뇨와의 연관성

Moyamoya syndrome associated with vitamin B12 deficiency and hyperhomocysteinemia in a child

• December 2012
• Neurology Asia 17(4):361-364

Abstract

Moyamoya disease is a rare clinical disorder, characterized by chronic, progressive occlusion of supraclinoid internal carotid artery and proximal portions of the anterior and middle cerebral arteries, and consequent development of collateral vessels seen on imaging as puff of smoke appearance. Although the pathophysiology is unclear, various hematologic disorders have been associated with development of the moyamoya syndrome. We report a case of moyamoya syndrome in a 3 yr old girl who presented with recurrent ischemic strokes. The angiography was suggestive of moyamoya syndrome. The serum vitamin B12 level was remarkably low with bone marrow picture of megaloblastic anemia. There was also hyperhomocysteinemia. Moyamoya syndrome has not been previously reported to be associated with vitamin B12 deficiency. We propose that vitamin B12 deficiency with hyperhomocysteinemia could result in greater risk for arterial thrombosis and thus caused the moyamoya syndrome in our patient.

Biomed Res Int. 2014; 2014: 474296.

Published online 2014 Jul 3. doi: 10.1155/2014/474296

PMCID: PMC4101992

PMID: 25101284

Ketogenic Diet in Neuromuscular and Neurodegenerative Diseases

Antonio Paoli, 1 ,* Antonino Bianco, 2 Ernesto Damiani, 1 and Gerardo Bosco 1

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Abstract

An increasing number of data demonstrate the utility of ketogenic diets in a variety of metabolic diseases as obesity, metabolic syndrome, and diabetes. In regard to neurological disorders, ketogenic diet is recognized as an effective treatment for pharmacoresistant epilepsy but emerging data suggests that ketogenic diet could be also useful in amyotrophic lateral sclerosis, Alzheimer, Parkinson's disease, and some mitochondriopathies. Although these diseases have different pathogenesis and features, there are some common mechanisms that could explain the effects of ketogenic diets. These mechanisms are to provide an efficient source of energy for the treatment of certain types of neurodegenerative diseases characterized by focal brain hypometabolism; to decrease the oxidative damage associated with various kinds of metabolic stress; to increase the mitochondrial biogenesis pathways; and to take advantage of the capacity of ketones to bypass the defect in complex I activity implicated in some neurological diseases. These mechanisms will be discussed in this review.

PMCID: PMC4912698

PMID: 27330833

A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report

Meltem Erol,1,* Ozlem Bostan Gayret,1 Ozgul Yigit,1 Kubra Serefoglu Cabuk,2 Mehmet Toksoz,3 and Mahir Tiras1

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Abstract

Introduction

Homocystinuria is a hereditary disease caused by a defect in the enzymes involved in metabolizing methionine. Homocystinuria can influence many systems and may be mistaken for other diseases, including Moyamoya disease. Here, we report the case of a 10-year-old male patient with a diagnosis of Moyamoya disease who had been monitored for that for an extended period. The patient’s diagnosis was changed to homocystinuria as a result of lens subluxation and cataract findings.

Case Presentation

A 10-year-old male patient presented with vomiting, headache, lethargy, muscular weakness, and eye redness. The patient was mentally retarded, his right pupil was hyperemic, and he had muscle weakness on his left side. In addition, his blood pressure was high. The patient’s history included a diagnosis of Moyamoya. A neck and cranial computed tomography (CT) angiography showed no flow bilaterally past the bifurcation of the carotid artery. The patient’s bilateral internal carotid arteries were determined to be occluded. It was considered that his eye findings could be compatible with a metabolic disease. On metabolic screening, the patient’s homocysteine level was very high. In addition, a heterozygous A1298C mutation was identified in MTHFR. Therefore, the patient was started on a diet free from homocysteine and methionine. In addition, his treatment regimen included vitamins B12 and B6. With these treatments, the patient’s complications regressed.

Conclusions

In cases of unusual vascular lesions, metabolic diseases must be considered. In homocystinuria, early diagnosis and treatment are important. Blood homocysteine levels can be returned to normal, and some complications can be prevented.

Keywords: Metabolic Disease, Lens Subluxation, Moyamoya Disease