Leigh syndrome MRI

MRI Brain Axial T2, Diffusion with MR Spectroscopy

Single voxel MR Spectroscopy at short TE of 35ms and long TE of 144ms. 

This MRI study shows:

Bilateral symmetrical T2 hyper intensity with restricted diffusion involving Putamen, Paramedian Thalami, Substantia nigra of mid brain, Dentate nuclei of cerebellum and periventricular white matter.

An upright Doublets of lactate at 1.3 ppm on short TE of 35 ms and inversion at long TE of 144 ms on MR Spectroscopy.

Imaging wise : Leigh syndrome. 

Leigh disease (Leigh syndrome, LS)

A subacute necrotizing encephalomyelopathy.

Genetically heterogenous mitochondrial disorder characterized by progressive neuro degeneration.

Imaging wise Diagnostic Clues:

Bilateral symmetrical involvement of Basal ganglia ( Putamen > Caudate > Globus pallidi), thalami, Brain stem (substantia nigra of mid brain > Pons > Medulla), Dentate nuclei of cerebellum, Periventricular white matter.

Hypodense on CT and T2 hyperintense on MR with restricted diffusion in acute stages.

Raised Choline, reduced NAA and Lactate peaks.

Clinical Issues

Age : majority < 2 years

Gender : No specific predilection.

Most common signs and symptoms: Psychomtor delay, regression, hypotonia, Ataxia, Ophthalmoplegia, ptosis, vomiting, swallowing and respiratory difficulties, dystonia, seizures.

Prenatal Diagnosis: possible with chorionic villus sampling.

Similar Case : Leighs-syndrome-MR Spectroscopy