Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome.
OBJECTIVE
Bilateral hypertrophic olivary degeneration on brain MRI has been reported in a few metabolic, genetic and neurodegenerative disorders, including mitochondrial disorders. In this report, we sought to analyse whether bilateral symmetrical inferior olivary nucleus hypertrophy is specifically associated with mitochondrial disorders in children.


METHODS
This retrospective study included 125 children (mean age, 7.6 ± 5 years; male:female, 2.6:1) diagnosed with various metabolic and genetic disorders during 2005-2012. The routine MRI sequences (T1 weighted, T2 weighted and fluid-attenuated inversion-recovery sequences) were analysed for the presence of bilateral symmetrical olivary hypertrophy and central tegmental tract or dentate nuclei signal changes. The other imaging findings and the final diagnoses were noted.


RESULTS
The cohort included patients with Leigh and Leigh-like syndrome (n = 25), other mitochondrial diseases (n = 25), Wilson disease (n = 40), Type 1 glutaric aciduria (n = 14), maple syrup urine disease (n = 13), giant axonal neuropathy (n = 5) and L-2 hydroxy glutaric aciduria (n = 3). Bilateral inferior olivary nucleus hypertrophy was noted in 10 patients, all of whom belonged to the Leigh and Leigh-like syndrome group.


CONCLUSIONS
Bilateral hypertrophic olivary degeneration on MRI is relatively often, but not routinely, seen in children with Leigh and Leigh-like syndrome. Early detection of this finding by radiologists and physicians may facilitate targeted metabolic testing in these children.


CONCLUSIONS
This article highlights the occurrence of bilateral hypertrophic olivary nucleus degeneration on MRI in children with Leigh and Leigh-like syndrome, compared with other metabolic disorders.
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
P S
PS
Bindu
A B
AB
Taly
K
K
Sonam
C
C
Govindaraju
H R
HR
Arvinda
N
N
Gayathri
M M Srinivas
MM
Bharath
D
D
Ranjith
M
M
Nagappa
S
S
Sinha
N A
NA
Khan
K
K
Thangaraj
D002648:Child; D015331:Cohort Studies; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D005260:Female; D056768:Giant Axonal Neuropathy / Q000473:pathology; D005977:Glutarates / Q000652:urine; D006527:Hepatolenticular Degeneration / Q000473:pathology; D006801:Humans; D006984:Hypertrophy / Q000473:pathology; D007888:Leigh Disease / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008375:Maple Syrup Urine Disease / Q000473:pathology; D028361:Mitochondrial Diseases / Q000473:pathology; D009847:Olivary Nucleus / Q000473:pathology*; D012189:Retrospective Studies; D013577:Syndrome
D005977:Glutarates; C035736:glutaric acid