Leigh disease

Case contributed by Dr Eric F Greif


Chronic vomiting.

Patient Data

Age: 13 months
Gender: Male

MRI Brain

There is symmetric marked hyperintense signal intensity on T2/FLAIR imaging and restricted diffusion in the dentate nuclei, inferior cerebellar peduncles, lateral fourth ventricle floor in the expected locations of the vestibular tract and in the expected tract of the vestibular cochlear nerve. Also present, is diffusion restriction in the posterior columns of the proximal cervical cord, anteriorly in the inferior medulla, and punctate symmetric foci of restricted diffusion in the inferior colliculi of the quadrigeminal plate and medial geniculate bodies. There is mild high signal on FLAIR and diffusion weighted imaging involving the bilateral putamen.

Case Discussion

The symmetric appearance favored a systemic, likely metabolic, abnormality. Considerations included vitamin B deficiency, Leigh disease (mitochondrial disorders), or viral encephalitis.

Clinically patient had developmental delay, hypertonia and difficulty feeding. Patient was diagnosed with Leigh disease and eventually died at 2 years of age from cardiac arrest.  

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Case information

rID: 35475
Published: 7th Apr 2015
Last edited: 21st Aug 2018
Inclusion in quiz mode: Included

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