Mitochondrial disorder mimicking ocular myasthenia.

Abstract

OBJECTIVES:

Ocular myasthenia (OM) and mitochondrial disorder (MID) may be easily mixed up, if the MID presents with similar manifestations as OM and if MID manifestations progress only slowly.

CASE REPORT:

In a 69yo Caucasian female OM was diagnosed at age 54y. Six years after onset the diagnosis was challenged, because the response to cholinergic medication was weak, acetyl-cholin-receptor antibodies were only marginally elevated, creatine-kinase was slightly elevated, and because the patient's mother had developed dementia. Resting lactate was normal but the lactate-stress-test was highly abnormal. Muscle biopsy was indicative of a MID and biochemical investigations revealed a complex I defect.

CONCLUSIONS:

MID may be easily mixed up with OM, particularly at onset of a MID with only mild manifestations. The diagnosis of OM should be challenged if untypical clinical features develop or clinical manifestations do not respond to cholinergic medication.

• Authors: Josef Finsterer
• Journal: Acta neurologica Belgica (Acta Neurol Belg) Vol. 110 Issue 1 Pg. 110-2 (Mar 2010) ISSN: 0300-9009 [Print] Italy
• PMID: 20514938 (Publication Type: Case Reports, Journal Article)

Topics

• Aged
• Female
• Humans
• Longitudinal Studies
• Mitochondrial Diseases (diagnosis)
• Myasthenia Gravis (physiopathology)