MELAS: An original case and clinical criteria for diagnosis

Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome is one of many mitochondrially inherited multisystem diseases. The features of 110 reported mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes patients are reviewed to define the clinical spectrum of this disease. The clinical disorder, in addition to emerging concepts of genetic etiology, is promoting our understanding of mitochondrial functions. New knowledge may lead to more rational therapies. Finally, the recent revolution in the study of mitochondrial diseases may further our understanding of other degenerative disorders and even aging.

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts.

Background A case of progressive irradiation-induced cerebral vasculopathy with abnormal netlike vessels and transdural anastomoses (moyamoya syndrome) is presented. Radiological findings in an additional 40 cases reported in the literature are analyzed, and their clinical relevance is discussed. Case Description A 19-year-old woman presented with recurrent ischemic brain lesions after radiation therapy for treatment of a craniopharyngioma during childhood. Cerebral angiography 6 and 12 years after completion of radiation therapy revealed progressive cerebral arterial occlusive disease involving the internal carotid artery on either side of the circle of Willis, with abnormal netlike vessels and transdural anastomoses (moyamoya syndrome). Conclusions Extensive similarities between irradiation-induced cerebral vasculopathy and primary moyamoya syndrome (Nishimoto’s disease) support the notion that both disorders share common pathophysiological mechanisms. The occurrence of moyamoya-like vascular changes ma...

Progressive Cerebral Occlusive Disease After Radiation Therapy

Obsessive-compulsive disorder in Huntington's disease

Context: Radiation therapy is a potentially curative treatment for corticotroph adenomas refractory to surgery. Protons have an advantage over photons (x-rays) by depositing energy at the target with no exit dose, providing a lower dose to adjacent normal tissues. Until recently, proton stereotactic radiotherapy (PSR) was available at only two U.S. centers; use will increase as proton facilities are under development. Objective: Our objective was to evaluate the efficacy and safety of PSR for persistent Cushing’s disease (CD) and Nelson’s syndrome (NS). Design: This was a retrospective review of 38 patients (33 with CD and five with NS) treated between 1992 and 2005. Participants: All patients had transsphenoidal surgery without biochemical cure. Four had previous irradiation with photons. The patients with NS underwent bilateral adrenalectomy 29–228 months (median 40) before PSR. Intervention: Single-fraction PSR was delivered at a median dose of 20 Cobalt Gray Equivalents (range 15–20) on 1 treatment da...

/pdf/proton-stereotactic-radiotherapy-for-persistent-9luoqccyeg.pdf

Proton Stereotactic Radiotherapy for Persistent Adrenocorticotropin-Producing Adenomas

[Obsessive-compulsive behavior and progressive supranuclear palsy].

Mitochondrial myopathy. Encephalopathy with lactic acidosis and cerebral infarction

[Recurrent coma, papular mucinosis and benign dysglobulinemia].

[Post-radiotherapy stenosis of the supraclinoid internal carotid artery. Moyamoya network].

Papular mucinosis recurrent comas benign dysglobulinemia

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