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Spinal cord calcification in an early-onset progressive leukoencephalopathy
Simona Orcesi1, Roberta La Piana, Carla Uggetti
1Child Neurology and Psychiatry Unit, IRCCS C. Mondino National Institute of Neurology Foundation, Pavia, Italy. simona.orcesi@mondino.it
Journal of Child Neurology
|March 24, 2011
Summary
This study identifies a novel genetic cause for a severe pediatric leukoencephalomyelopathy, characterized by spinal cord calcifications and neurological deficits. The findings highlight a DARS2 gene variant
Area of Science:
- Pediatric Neurology
- Neurogenetics
- Mitochondrial Biology
Background:
- Spinal cord calcifications are rare in pediatric neurology.
- Leukodystrophies impact white matter development and function.
- Genetic factors are increasingly recognized in complex neurological disorders.
Observation:
- A child presented with severe psychomotor delay, tetraplegia, deafness, and anemia.
- Neuroradiology showed leukodystrophy and calcifications in the brain and spinal cord.
- Infectious and metabolic causes were excluded, but reduced respiratory chain activity was noted.
Findings:
- An intronic variant in DARS2, a gene crucial for mitochondrial DNA translation, was identified.
- This variant is linked to leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate.
- The patient's condition shares similarities with previously reported cases.
Implications:
- This case may represent a new progressive leukoencephalomyelopathy.
- Identifying the DARS2 variant offers diagnostic insights for similar pediatric neurological conditions.
- Further research into DARS2-related disorders is warranted to understand disease mechanisms and develop targeted therapies.
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