Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Presenting Primarily with...

Area of Science:

• Neurology
• Genetics
• Biochemistry

Background:

• Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare autosomal recessive leukodystrophy.
• It is caused by pathogenic variants in the DARS2 gene.
• Clinical presentations vary, but exercise intolerance is infrequently documented.

Purpose of the Study:

• To report a case of LBSL presenting primarily with exercise intolerance.
• To emphasize the importance of considering LBSL in the differential diagnosis of unexplained exercise intolerance.
• To highlight the role of neuroimaging and genetic confirmation in diagnosis.

Main Methods:

• A case report of a 24-year-old woman with exercise-induced fatigue.
• Clinical examination, laboratory tests (serum lactate), brain and spinal MRI.
• Molecular analysis confirmed compound heterozygous DARS2 mutations.

Main Results:

• The patient presented with exercise intolerance, mild lower limb resistance, and hyperreflexia.
• Elevated serum lactate levels were observed post-exercise.
• MRI revealed white matter abnormalities and spinal cord involvement consistent with LBSL.
• Compound heterozygous DARS2 mutations were identified.

Conclusions:

• LBSL should be considered in young patients with unexplained exercise intolerance and characteristic neuroimaging findings.
• Early diagnosis through genetic confirmation is crucial for management and counseling.
• This case expands the known clinical spectrum of DARS2-related leukodystrophy.