MRI of Leigh syndrome on MRI and differential diagnosis

Leigh syndrome

( leigh syndrome，LS) 

It is a manifestation type of mitochondrial encephalopathy, which is a rare and unknown X-linked autosomal recessive genetic disorder, which can often involve the brain and spinal cord at the same time, so it is also called subacute necrotizing encephalomyelitis
.
At present, it is believed that it is mainly caused by
chromosomal mutations involving electron chain complex I.
~V.
and causing complex defects.
It mainly occurs in infants and young children, and is often misdiagnosed as other diseases
due to insufficient understanding of the imaging features of their brains.

Morphological and distribution characteristics of lesions in the brain

MRI signal characteristics

Figure 1 Female, 2 years old
.
Unconscious, the cause of high lactic acid needs to be investigated
.
Bilateral globus pallidus symmetric strip-like long T2 signal
.

Figure 2a, 2b female, 6 months
.
Backward
development since childhood.
Symmetrical sheet-like long T2 signals can be seen around the bilateral basal ganglia, thalamus, midbrain and aqueduct, symmetrically distributed, and the realm is clear
.
Bilateral intralesional necrosis of the basal
ganglia is seen.
Bilateral frontotemporoparietal lobes may show cerebral atrophy changes
.

Figure 3a ~ 3h male, 27 months
.
The object in his right hand trembled and he walked with a limp
.
On both sides, the frontotemporoparietal insula occipital lobe, hippocampus, basal ganglia area, brainstem, bilateral thalamus, basal ganglia area and corpus callosum showed diffuse roughly symmetrical nodular, flaky long T2 signals, T2 FLAIR showed uneven high intensity, and spotted low signal
was visible in the lesion.
DWI display diffusion is limited
.

Figure 4 Male, 3 years old
.
Walking is unsteady for half a year, and it worsens
after catching a cold.
Bilateral cerebellar dentate nucleus symmetric T2 FLAIR hyperintensity
.

Figure 5 Female, 6 months
.
Backward
development since childhood.
Inverted lactate peaks appeared in bilateral basal ganglia regions, and NAA and Cho were seen to varying degrees
.

differential diagnosis

In summary, the MRI imaging findings of Leigh syndrome are somewhat characteristic
.
Leigh syndrome
should be suspected when lesions have a largely symmetrical distribution, involving the brainstem, basal ganglia, and parathalamus third ventricle, alone or simultaneously, especially when T2 FLAIR and DWI signals are uneven, and the lesions have both diffuse and unrestricted areas.
If 1H-MRS shows elevated lactic acid, it is highly suggestive of the diagnosis
of the disease.