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Stroke-like pattern in DTI and MRS of childhood mitochondrial leukoencephalopathy
K Brockmann1, J Finsterbusch, U Schara
1Department of Paediatrics and Neuropaediatrics, Georg August University, Göttingen, Germany. kbrock@med.uni-goettingen.de
Abstract:
In a 13-month-old boy with recurrent motor deterioration provoked by fever MRI and proton MRS detected a leukoencephalopathy with reduced cerebral metabolites and elevated lactate. At follow-up 6 and 16 months later these abnormalities improved gradually. Serial diffusion tensor imaging revealed a stroke-like pattern with an initial strong reduction of the apparent diffusion coefficient followed by elevated values 6 months later. The relative diffusion anisotropy remained reduced. Muscle biopsy confirmed a mitochondrial encephalomyopathy.
Insights
Fever-induced motor decline in a child was linked to leukoencephalopathy and mitochondrial encephalomyopathy. Brain imaging abnormalities and lactate levels improved over time, showing a dynamic, stroke-like diffusion pattern.
Area of Science:
- Pediatric Neurology
- Neuroimaging
- Metabolic Disorders
Background:
- Recurrent motor deterioration in children can indicate underlying neurological conditions.
- Fever-triggered events suggest a potential link to metabolic or inflammatory processes.
- Mitochondrial encephalomyopathies are a group of inherited disorders affecting energy production.
Observation:
- A 13-month-old boy presented with recurrent motor deterioration episodes associated with fever.
- Magnetic Resonance Imaging (MRI) and proton Magnetic Resonance Spectroscopy (MRS) revealed leukoencephalopathy, characterized by reduced cerebral metabolites and elevated lactate.
- Serial diffusion tensor imaging (DTI) demonstrated a transient stroke-like pattern with initial decreased and subsequent increased apparent diffusion coefficient (ADC).
Findings:
- The leukoencephalopathy and metabolic abnormalities showed gradual improvement over 6 and 16 months.
- Relative diffusion anisotropy (RDA) remained consistently reduced, suggesting persistent white matter changes.
- Muscle biopsy confirmed the diagnosis of mitochondrial encephalomyopathy.
Implications:
- This case highlights the potential for reversible neuroimaging findings in pediatric mitochondrial disorders.
- Serial DTI can provide insights into the dynamic nature of white matter injury in these conditions.
- Understanding these patterns aids in diagnosing and managing rare pediatric neurological diseases.
