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Case Reports
. 2021 Aug 26;9(24):7133-7138.
doi: 10.12998/wjcc.v9.i24.7133.

Late-onset Leigh syndrome without delayed development in China: A case report

Jian-Min Liang  1 , Cui-Juan Xin  1 , Guang-Liang Wang  2 , Xue-Mei Wu  1
Affiliations
Case Reports

Late-onset Leigh syndrome without delayed development in China: A case report

Jian-Min Liang et al. World J Clin Cases. .

Abstract

Background: Leigh syndrome (LS) is one of the most common mitochondrial diseases in infants and children. LS often manifests as early-onset with delayed phenotypic development. However, late-onset LS with normal development and white matter lesions in the brain is rarely reported, thereby highlighting the phenotypic variability of LS expression.

Case summary: We report a 12-year-old boy who presented with an unusual late-onset and fulminant form of LS that is maternally inherited without developmental delay. The patient was admitted to the hospital with symptoms of ptosis and somnolence, and died within 2 mo. Analysis of peripheral blood leukocytes showed a homoplasmic m.9176T>C mutation in the patient. Magnetic resonance imaging also revealed lesions in bilateral white matter as well as symmetrical lesions in the basal ganglia and brain stem. The patient was diagnosed with LS. The patient was treated with vitamin C, vitamin D, and adenosine-triphosphate. The patient died within 2 mo of hospital admission.

Conclusion: LS can present in both infants and older children with different phenotypes.

Keywords: 9176 mutation; Case report; Late-onset; Leigh syndrome.

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Conflict of interest statement

Conflict-of-interest statement: The authors declare that they have no conflict of interest.

Figures

Figure 1
Figure 1
Sequence electropherograms showing the m.9176T>C substitution disclosed in the patient’s and his parents’ blood samples. Restriction fragment length polymorphism (RFLP) analysis of the m.9176T>C mutation. A: The mutational load assessment by polymerase chain reaction-RFLP analysis confirmed that the patient harbored the mutation in blood leukocytes. Moreover, the variant was nearly homoplasmic (> 99%) in the tissues examined; B: The mutation was also found in maternal blood at a low level of heteroplasmy; C: The mutation was not found in DNA samples derived from the patient’s father.
Figure 2
Figure 2
Neuroradiological features. Sequential magnetic resonance imaging (MRI) scans showed bilateral symmetric signal abnormalities in the basal ganglia, medial thalami, periaqueductal region of the midbrain and pons, and bilateral white matter around the lateral ventricles (A1-5: T1-weighted images, B1-5: T2-weighted images). C1-5: Diffusion-weighted images of the brain MRI showing bilateral signal abnormalities in the basal ganglia, brain stem, and white matter.
See this image and copyright information in PMC

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