Unknown [LMP68813-U]

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Image Details

Diagnostic Modality:

Electron Microscopy

Species:

Human

Organ System:

Heart

Gender:

Female

Age:

18 months

Slide Contributor Information

Mrkonjic, M., WIlson, G.

Clinical History

This 18 month old girl had global developmental delay, hypotonia, bilateral ptosis, left ventricular hypertrophy, chronic lactic acidosis and neutropenia. MRI of brain revealed bilateral T2/FLAIR intensity within thalami, globus pallidus and putamen with mitochondrial disorder high on the differential diagnosis, either Kerns-Sayre Syndrome or Leigh Syndrome. Molecular genetic analysis revealed a homozygous mutation E140K in SCO2 gene (complex IV of cytochrome c oxidase) and confirms the diagnosis of Leigh Syndrome.

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Unknown [LMP68813-U]

Clinical History

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