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Sudden Death in Leigh Syndrome: An Autopsy Case

Ventura, Francesco MD, PhD*; Rocca, Gabriele MD*; Gentile, Raffaella MD; De Stefano, Francesco MD*

The American Journal of Forensic Medicine and Pathology: September 2012 - Volume 33 - Issue 3 - p 259–261
doi: 10.1097/PAF.0b013e31824e5be0
Case Reports

The present report describes the sudden death of a 3-year-old female child who had been clinically diagnosed with Leigh syndrome.

Leigh syndrome is a heterogeneous progressive neurodegenerative disorder, which is characterized by focal or bilateral lesions in the thalamus, basal ganglia, brainstem, cerebellum, and spinal cord. Affected patients exhibit a variable clinical picture that frequently includes psychomotor retardation or regression, recurrent episodes of vomiting, failure to thrive, and signs of brainstem and basal ganglia dysfunction.

The child was found dead in bed. Autopsy described the presence of symmetrical, necrotizing lesions scattered within the basal ganglia, thalamus, diencephalon, brainstem, and spinal-cord gray matter and revealed the presence of gastric contents in the upper and lower airways. We report the results of genetic investigations and describe the histological and immunohistochemical features that confirmed the diagnosis. These findings suggest that Leigh syndrome should be regarded as predisposing children to sudden death, especially by asphyxia secondary to the neurological disorder.

From the *Department of Legal Medicine, University of Genova; and †Department of Clinical Pathology, San Martino Hospital, Genova, Italy.

Manuscript received October 6, 2010; accepted March 31, 2011.

The authors report no conflicts of interest.

Reprints: Francesco Ventura, MD, PhD, Department of Legal Medicine, University of Genova, Via de Toni 12, 16132 Genova, Italy. E-mail:

© 2012 Lippincott Williams & Wilkins, Inc.