MEGDEL syndrome

MEGDEL syndrome (3-MEthylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a mitochondrial disease with infantile onset. These patients typically initially receive a diagnosis of Leigh syndrome, based on clinical and biochemical features and an abnormal basal ganglia signal on brain MRI. 

Pathology

MEGDEL syndrome is an autosomal recessive disorder of oxidative phosphorylation with mutations in the SERAC1 gene which impairs mitochondrial function and intracellular cholesterol trafficking ^1,2.

Radiographic features

MRI

The basal ganglia, especially the putamina, are affected with swelling in early stages followed by atrophy. Sparing of the mid dorsal putamen (showing normal signal surrounded by T2 hyperintense signal) is referred to as the putaminal eye, a distinct imaging sign seen only in this disease ^2,3. This sign is not readily recognized in end stage disease where there is marked volume loss of putamen. This disease has a distinctive imaging evolution on MRI with end stage atrophy of the basal ganglia, cerebrum and cerebellum.

See also

• eye of the tiger sign (globus pallidus)