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Adult Leigh Disease Without Failure to Thrive

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Title: Adult Leigh Disease Without Failure to Thrive
Authors: Sakushima, Ken Browse this author
Tsuji-Akimoto, Sachiko Browse this author
Niino, Masaaki Browse this author →KAKEN DB
Saitoh, Shinji Browse this author →KAKEN DB
Yabe, Ichiro Browse this author →KAKEN DB
Sasaki, Hidenao Browse this author →KAKEN DB
Keywords: Leigh disease
mitochondrial deficits
Rahman's criteria
Issue Date: Jul-2011
Publisher: Lippincott Williams & Wilkins
Journal Title: Neurologist
Volume: 17
Issue: 4
Start Page: 222
End Page: 227
Publisher DOI: 10.1097/NRL.0b013e318217357a
PMID: 21712670
Abstract: Introduction: Most Leigh disease (LD) patients die before reaching adulthood, but there are reports of 'adult LD'. The clinical features of adult LD were quite different from those in infant or childhood cases. Here, we describe a normally developed patient with adult LD, who presented with spastic paraplegia that was followed several years later by acute encephalopathy. We also conducted a systemic literature search on adult LD and integrated its various manifestations to arrive at a diagnostic procedure for adult LD. Case Report: A 26-year-old woman presented with acute encephalopathy after spastic paraplegia. On her first admission, she exhibited bilateral basal ganglia lesion on magnetic resonance images and normal serum lactate levels. On second admission, she had acute encephalopathy with lactic acidosis and bilateral basal ganglia and brainstem lesions. A muscle biopsy revealed cytochrome c oxidase (COX) deficiency, and a diagnosis of adult LD was made. Despite treatment in the intensive care unit, she died nine days after admission. Conclusions: A review of the literature describing adult LD revealed that developmental delay, COX deficiency, serum lactate elevation, and basal ganglia lesions occurred less frequently than they did in children with LD. Cranial nerve disturbance, pyramidal signs, and cerebellar dysfunction were the primary symptoms in adult LD. Thus, the many differences between childhood and adult LD may be helpful for diagnosing adult LD.
Rights: This is a non-final version of an article published in final form in Neurologist, Jul. 2011, 17(4), 222-227.
Type: article (author version)
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 矢部 一郎

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