Diffusion and ADC-map images detect ongoing demyelination on subcortical white matter in an adult metachromatic leukodystrophy patient with autoimmune Hashimoto thyroiditis
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Published on: July 19, 2019
Akiko Miura1, Yuri Kumabe, En Kimura
1Department of Neurology, Kumamoto University Hospital, Kumamoto, Japan.
Abstract:
Adult-onset metachromatic leukodystrophy (MLD) often shows schizophrenia- or encephalopathy-like symptoms at an early stage, such as behavioural abnormalities, cognitive impairment, mood disorders and hallucinations. The authors report the case of an adult woman with MLD who had been given antipsychotic medication for schizophrenia. In the differential diagnosis, screening of auto-antibodies was important for ruling out other encephalopathies as she had a euthyroid Hashimoto thyroiditis. Diagnosis was based the results of MRI, nerve conduction velocity, sensory evoked potential, motor evoked potential, lysosomal enzyme activity and gene analysis studies. Brain MRI showed diffuse demyelination spreading from the deep white matter to subcortical area as high signals at the edges of these lesions in diffusion and apparent diffusion coefficient-map images with the U-fibres conserved. The authors diagnosed adult-onset MLD coexisting with euthyroid autoimmune Hashimoto thyroiditis.
Insights
Adult-onset metachromatic leukodystrophy (MLD) can mimic schizophrenia symptoms. This case highlights the importance of considering MLD in adults with psychiatric symptoms and coexisting autoimmune conditions like Hashimoto thyroiditis.
Area of Science:
- Neurology
- Genetics
- Immunology
Background:
- Adult-onset metachromatic leukodystrophy (MLD) presents with neurological and psychiatric symptoms, often misdiagnosed as schizophrenia or encephalopathy.
- Early diagnosis is crucial for managing MLD, but its varied presentation can pose challenges.
Observation:
- A case of an adult woman with MLD initially treated for schizophrenia is presented.
- The patient had coexisting euthyroid autoimmune Hashimoto thyroiditis, necessitating careful differential diagnosis.
- Brain MRI revealed diffuse demyelination with characteristic findings on diffusion and ADC-map images, sparing U-fibers.
Findings:
- Diagnosis of adult-onset MLD was confirmed through MRI, nerve conduction studies, evoked potentials, enzyme activity assays, and genetic analysis.
- The study identified MLD coexisting with euthyroid autoimmune Hashimoto thyroiditis in this patient.
- Auto-antibody screening was vital in differentiating MLD from other encephalopathies.
Implications:
- This case underscores the need for comprehensive diagnostic workup in adults presenting with psychiatric symptoms, including genetic and biochemical testing for MLD.
- Recognizing the potential overlap between MLD and autoimmune thyroiditis is important for accurate diagnosis and treatment.
- Further research into the co-occurrence of MLD and autoimmune diseases may reveal shared pathogenic mechanisms or diagnostic insights.
