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American Journal of Forensic Medicine & Pathology:
doi: 10.1097/PAF.0b013e31824e5be0
Case Reports

Sudden Death in Leigh Syndrome: An Autopsy Case

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

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Abstract

Abstract: 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.

© 2012 Lippincott Williams & Wilkins, Inc.

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