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Kwon, Choi, Ko, Yoon, and Kim: Leigh Syndrome æ Serial MRI Findings1
Original Article

J Korean Radiol Soc 1998;38(3):539-545.

Published online: 18 December 1998

DOI: https://doi.org/10.3348/jkrs.1998.38.3.539

Leigh Syndrome æ Serial MRI Findings1

Jin Sook Kwon, M.D., Choong Gon Choi, M.D., Tae Sung Ko, M.D.2, Chong Hyun Yoon, M.D., Dong Eun Kim, M.D.

1Department of Diagnostic Radiology, Asan Medical Center, University of Ulsan

2Department of Pediatrics, Asan Medical Center, University of Ulsan

Address reprint requests to : Choong Gon Choi, M.D·, Department of Diagnostic Radiology, Asan Medical Center, University of Ulsan, β 388-1 Poongnapdong, Songpagu, Seoul, 138-736, Korea. Tel. 82-2-224-4400 Fax. 82-2-476-4719

Received 19 June 1997       Accepted 26 November 1997

Copyright © 1998 The Korean Society of Radiology

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Purpose :

The purpose of this study was to evaluate the effect of the temporal changes in brain lesions on serial MR images during the course of Leigh syndrome.

Materials and Methods :

We retrospectively reviewed 11 MR images in four patients diagnosed as suffering from Leigh syndrome on the basis of clinical features, MRI findings, and biochemical data. Follow-up and earlier, MR images were compared and temporal changes in lesions were analyzed, with particular attention to location, size, signal intensity, and contrast enhancement.

Results :

Initial MRI showed that in order of frequency, the following were involved : bilateral putamina(4/4), caudate nuclei(2/4), the brain stem(2/4), medial thalamic nuclei(l/4), and the cerebral cortex(l/4). In two patients, the size of acute putaminal lesions, as seen on follow-up MRI, decreased in the short term(within two weeks) å in one patient, strong contrast enhancement of the lesions was observed twelve days after initial MRI. Long term follow-up MRI, over 7 —19 months, showed newly developed lesions (2/4) and atrophy (2/4J or obliteration of previous lesions (3/4) in the basal ganglia, thalami, and brain stem.

Conclusion:

Serial MRI demonstrated temporal changes in brain lesions during the course of Leigh syndrome. On follow-up MRI, the appearance of bilateral lesions in basal ganglia and the brain stem, not present on initial MRI, may be helpful corroborative evidence to support a diagnosis of this syndrome.

Keywords: Brain, MR, Brain, metabolism

REFERENCES

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Fig. 1.
A 7-month-old infant with seizure and ptosis. A, B. Axial T2-weighted images of initial MRI reveal bilateral symmetrical lesions in the putamina, medial thalamic nuclei, red nuclei and periac- queductal gray matter. C. Contrast enhanced Tl-weighted images of second MRI demonstrate strong enhancement of the lesions in the caudate nuclei and putamia. D. Axial Τ 2-weighted images of third MRI, obtained 7 month later from initial MRI, show small cleft like residual lesions in both putamina, atrophy of caudate heads, and resolution of midbrain lesions. Clinical symptoms are persistent without progression after recovery from acute attack.
jkrs-38-539f1.tif
Fig. 2.
A 2-year-old boy with respiratory difficulty. A, B. Axial T2-weighted images of initial MRI show multiple small lesions in left putamina and bilateral symmetrical lesions in tegmentum of the medulla oblongata(arrows). C, D. Axial T2-weighted images of second MRI, obtained 1 year and 6 months later from initial MRI, show progression of putaminal lesions, newly developed lesions in both caudate nuclei, medial thalamic nuclei, and disappearance of medullary lesions. This patient showed progression of limb rigidity and quadri- plegia at the time of second MRI.
jkrs-38-539f2.tif
Table 1.
Laboratory and Biochemical Findings in Four Children with Leigh Syndrome
Patient's Number & Sex Lactate & Pyruvate level in CSF (0.5-2.2mmol/L & 0.3-0.7 mg/dl) Lactate & Pyruvate level in Serum (0.7-2.1 mmol/L & 0.3-0.7mg/dl) Biochemical Findings∗
l/M Lactate: 1.0mmol/L Lactate: 1.7mmol/L
Pyruvate: 1.9mg/al Pyruvate: 1.8mg/dl
2/M Lactate: 1.0mmol/L Lactate: 11.1 mmol/L
Pyruvate: 0.9mg/dl Pyruvate : 2.8mg/dl
3/M Lactate: 2.8mmol/L Lactate: 4.8mmol/L Increased intracellular lactate/pyruvate
Pyruvate: 0.6nWdl Pyruvate: 2.8mg/dl ratio: 87.7-10.1(12.7-1.5), complex IV
deficiency: 2.56ᅵ0.37 (7.99 ᅳ0.47)
4/M Lactate: 5.0mmol/L Lactate: 13.0mmol/L Increased intracellular lactate/pyruvate
Pyruvate: 0.2mg/dl Pyruvate: 0.2mg/dl ratio: 28.9 — 3.1(15.0 — 2.3), suspected
complex I deficiency

The numbers within the parenthesis are normal values. The results 01 Diochemical assay using cultured skin fibroblasts are the reports from an experienced laboratory(Division of Clinical Genetics, Hospital for Sick Children, Toronto, Canada). Complex I = NADH cytochrome c reductase, complex IV = cytochrome c oxidase.

Table 2.
Clinical Features and Serial MRI Findings in Four Children with Leigh Syndrome
Patient's Number & Sex Age at first symptom onset Clinical Features Age at MRI Location of Brain Lesions Notable Findings and Temporal Changes
I/M 1 year and Lethargy, swallowing difficulty, 1st MRI Bilateral putamina, Mild edematous enlargement of the basal
10 months old seizure after febrile illness (1/10/0) caudate nuclei ganglia
Clinicall y improvement of symp 2nd MRI Same location with 1st Decreased in size of the basal ganglia
toms on follow-up period (10 days later) MRI lesions
2/M 7 months Ptosis, loss of consciousness, seiz 1st MRI Bilateral putamina and medial thal Bilaterally symmetrical lesions in basal
ure, developmental delay, hypot amic nuclei, substantia nigra, red ganglia and brain stem, and a focal cortical
onia, limitation of medial gaze nuclei, periaqueductal gray matter, lesion
No further progression of symp tegmentum of pons and medulla
toms on follow-up period oblongata, right cingulate gyrus
2nd MRI Same region in 1st MRI and caudate Strong contrast enhancement∗ of the
(12 days later) nuclei lesions in both putamina, caudate nuclei
and the right cingulate gyrus, glo bally
diminished hyperintensities of the pre
vious lesions on T2 weighted images
3rd MRI Bilateral putamina and caudate nu Disappearance of all lesions except re
(7 months later) clei, right cingulate gyrus sidual cleft like lesions in bilateral put
amina and atrophic caudate nuclei
4th MRI Bilateral putamina Same findings as compared with 3rd MRI
3/M (10 months later)
5 years old Progres sive abnormal involuntary 1st MRI Bilateral putamina Symmetrical small lesions in putamina
movement, ataxia, growth and
motor retardation
Respiratory difficulty after febrile 2nd MRI Same location with 1st MR No gross interval changes
illness, died with respiratory fail- (1 year later)
3rd MRI Bilateral putamina, medulla Bilaterally symmetric new lesions in med
(1 year and 7 oblongata ulla and slightly obliteration of the
4/M months later) putaminal lesions
1 year and 5 Strabismus, ptosis, developmental 1st MRI Bilateral putamina, left caudate Asymmetrical lesions in both putamina,
months old delay, nystagmus (2/0/0) body, medulla oblongata left caudate body and symmetrical lesions
in medulla oblongata
Swallowing and respiratory diffi 2nd MRI Bilateral putamina, caudate nuclei Progression of putaminal and caudate
culty (1 year and 6 and medial thalamic nucleus lesions, new medial thalamic lesions, ob
Progressive limb rigidity and months later) literation of medullary lesions and diffuse
quadriplegia, died due to asphyxia brain atrophy
at home

CSF = cerebrospinal fluia.

∗ No MRI had sjiowed contrast enhancement of the lesions except this one.

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