Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic

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منابع مشابه

Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome1 is one of the most frequently inherited mitochondrial disorders. MELAS syndrome is a systemic disease with multiple organ involvement.2 The most common mutation in MELAS is the m.3243A>G mutation in the MT-TL1 gene.2.

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Multiple system atrophy presenting as central sleep apnoea.

A 61-yr-old male presented with apparent idiopathic central sleep apnoea but after 4 yrs developed features of autonomic, cerebellar and extrapyramidal dysfunction consistent with a diagnosis of multiple system atrophy (MSA). Though central sleep apnoea can occur in multiple sleep apnoea, it is less frequent than obstructive sleep apnoea and occurs in the later stages of the disease. The pathog...

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Multiple-System Atrophy with Cerebellar Predominance Presenting as Respiratory Insufficiency and Vocal Cords Paralysis

Background. MSA (Multiple System Atrophy) may be associated either with Parkinsonism or with cerebellar ataxia (MSA-c subtype). It is considered a rare disease, but many patients are misdiagnosed as suffering from idiopathic Parkinson's disease. In this paper, we report a case of a patient admitted with respiratory failure and vocal cords paralysis due to MSA-c. Case Report. A 79-year-old Cauca...

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Leucoencephalopathy with neuroaxonal spheroids (LENAS) presenting as the cerebellar subtype of multiple system atrophy.

Leucoencephalopathy with neuroaxonal spheroids (LENAS) is a rare disease of cerebral and cerebellar white matter. LENAS usually presents as a disorder of cognition and behaviour, or with gait dysfunction and ataxia. This report describes a patient who had a 14 year course of progressive neurological decline consistent with a clinical diagnosis of probable multiple system atrophy, with prominent...

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Adult-onset MELAS presenting as herpes encephalitis.

OBJECTIVE To report an unusual presentation of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) manifested in late life with a clinical picture of herpes simplex encephalitis. DESIGN Case report. SETTING Clinical neurology department in a tertiary care hospital. CASE DESCRIPTION A 55-year-old woman developed aphasia and delirium during ophthalmic herpes z...

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ژورنال

عنوان ژورنال: Neurology Genetics

سال: 2016

ISSN: 2376-7839

DOI: 10.1212/nxg.0000000000000121