Answer:
Leigh`s Disease(Subacute Necrotizing Encephalomyelopathy)
Findings:
Bilaterally symmetric T2/FLAIR hyperintensities with Partially restricted diffusion in the putamen , substantia nigra , periaqueductal gray matter and bilateral cerebellar white matter. Multivoxel MR Spectroscopy (TE -130) reveals an inverted doublet at 1.33ppm consistent with lactate peak , which is characteristically above the base line at TE 35.
Discussion:
The combination of abnormal signal changes and lactate peak in MR Spectroscopy is highly suggestive of Mitochondrial encepahlopathy , most likely Leigh`s Disease in the appropriate clinical setting. Leigh`s disease is a Progressive neurodegenerative disorder characterized by psychomotor retardation, feeding difficulties, intermittent abnormalities of the respiratory rhythm, cranial palsies, and ataxia, with onset usually in infancy or early childhood. The lesions have been divided into 3 groups: 1) symmetrical basal ganglia lesions before brain stem involvement 2) initial involvement of the brain stem 3) cerebral white matter lesions followed by brain stem lesions The main differential diagnosis is Wilson`s Disease and Mitochondrial Encephalopathy , stroke like episodes(MELAS) , which could be differentiated based on characteristic clinical features.
Leigh`s Disease(Subacute Necrotizing Encephalomyelopathy)
Findings:
Bilaterally symmetric T2/FLAIR hyperintensities with Partially restricted diffusion in the putamen , substantia nigra , periaqueductal gray matter and bilateral cerebellar white matter. Multivoxel MR Spectroscopy (TE -130) reveals an inverted doublet at 1.33ppm consistent with lactate peak , which is characteristically above the base line at TE 35.
Discussion:
The combination of abnormal signal changes and lactate peak in MR Spectroscopy is highly suggestive of Mitochondrial encepahlopathy , most likely Leigh`s Disease in the appropriate clinical setting. Leigh`s disease is a Progressive neurodegenerative disorder characterized by psychomotor retardation, feeding difficulties, intermittent abnormalities of the respiratory rhythm, cranial palsies, and ataxia, with onset usually in infancy or early childhood. The lesions have been divided into 3 groups: 1) symmetrical basal ganglia lesions before brain stem involvement 2) initial involvement of the brain stem 3) cerebral white matter lesions followed by brain stem lesions The main differential diagnosis is Wilson`s Disease and Mitochondrial Encephalopathy , stroke like episodes(MELAS) , which could be differentiated based on characteristic clinical features.