Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report

Tim Sinnecker; Michaela Andelova; Michael Mayr; Stephan Rüegg; Michael Sinnreich; Juergen Hench; Stephan Frank; André Schaller; Christoph Stippich; Jens Wuerfel; Leo H Bonati

doi:10.1186/s12883-019-1306-6

Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report

BMC Neurol. 2019 May 8;19(1):91. doi: 10.1186/s12883-019-1306-6.

Authors

Affiliations

¹ Neurologic Clinic and Policlinic, Departments of Medicine, Clinical Research and Biomedical Engineering, University Hospital and University of Basel, Petersgraben 4, CH-4031, Basel, Switzerland.
² Medical Imaging Analysis Center AG, Basel, Switzerland.
³ Department of Internal Medicine, University Hospital and University of Basel, Basel, Switzerland.
⁴ Division of Neuropathology, Institute of Pathology, University Hospital and University of Basel, Basel, Switzerland.
⁵ Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
⁶ Department of Radiology, University Hospital and University of Basel, Basel, Switzerland.
⁷ Neurologic Clinic and Policlinic, Departments of Medicine, Clinical Research and Biomedical Engineering, University Hospital and University of Basel, Petersgraben 4, CH-4031, Basel, Switzerland. [email protected].

Abstract

Background: Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial cytopathy caused by mutations in mitochondrial DNA. Clinical manifestation is typically before the age of 40.

Case presentation: We present the case of a 63-year-old female in whom the symptoms of MELAS were initially misdiagnosed as episodes of recurrent ischemic strokes. Brain imaging including MRI, clinical and laboratory findings that lent cues to the diagnosis of MELAS are discussed. In addition, MRI findings in MELAS in comparison to imaging mimics of MELAS are presented.

Conclusions: This case underscores the importance of considering MELAS as a potential cause of recurrent stroke-like events if imaging findings are untypical for cerebral infarction, even among middle-aged patients with vascular risk factors.

Keywords: MELAS; MRI; Recurrent ischemic strokes; Stroke-like episodes.

Publication types

Case Reports

MeSH terms

Age of Onset
Female
Humans
MELAS Syndrome / complications
MELAS Syndrome / diagnosis*
MELAS Syndrome / genetics
Middle Aged
Mutation
Pedigree
Stroke / etiology