Professional paper

Mitohondrial Encefalomyopathy in Differential Diagnosis of Sclerosis multiplex

Lorena Radolović
Loredana Labinac-Peteh
Ivana Vidović
Željana Jotanović
Juraj Sepčić

Abstract

We present a case of patient with clinical features ,”scattered” in a space and time, and multiple demyelinating
lesions of the central nervous system (CNS), primarily understood as multiple sclerosis (MS). Due to progressive neurological deterioration and the appearance of symptoms outside the CNS along with lactacidemia in effort and the absence of Ig GOP (oligoclonal areas) in the cerebrospinal fluid, we suspected accuracy
of diagnosis for MS. Analysis of muscle biopsy showed evident signs of disorders in mitochondrial metabolism, and genetic analysis of DNA defect confirmed the diagnosis of mitochondrial encephalomyopathy.

Keywords

encefalomyopathy; multiple sclerosis; mitochondrial DNA

Hrčak ID:

139564

URI

https://hrcak.srce.hr/139564

Publication date:

27.12.2014.

Article data in other languages: croatian

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