Eosinophilic granulomatosis with polyangiitis (EGPA) is often associated with peripheral neuropathy, but reports of central nervous system involvement are quite rare. We herein report a patient with EGPA first identified as having hypereosinophilia who later developed asthma, eosinophilic otitis media, sinusitis, and hemorrhagic colitis. She subsequently developed hemiparesis. Head magnetic resonance imaging revealed multiple cerebral infarctions with subcortical and subarachnoid hemorrhaging colocalized at the bilateral border zone areas. She was diagnosed with EGPA-induced stroke and successfully treated with oral prednisolone. Inflammation in the small cerebral arteries in EGPA may induce bilateral border zone infarction with colocalizing subcortical and subarachnoid hemorrhaging.
Background
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disease progressively affecting cognitive and motor functions, most often caused by mutations in the colony‐stimulating factor 1 receptor gene (CSF1R).
Aim
To elucidate the mechanism of disease progression, changes in white matter lesions and cortical cerebral blood flow (CBF) were evaluated in cases during various stages of the disease.
Methods
All patients were diagnosed with HDLS by confirming mutations in CSF1R. Regional CBF was evaluated using single‐photon emission computed tomography and was analyzed semiquantitatively.
Results
Three cases (2 males and 1 female, ages 51, 53, and 48 years on admission, disease duration from 1 to 8 years) were registered. All cases exhibited different CSF1R mutations and progressive frontal dysfunction. Scores of the Frontal Assessment Battery and time in the Trail Making Test worsened as the disease progressed, whereas the Mini‐Mental State Examination score remained relatively stable. MRI revealed progressive white matter lesions in the frontal lobe and atrophy of the anterior body of the corpus callosum. Regional CBF was low in the medial frontal cortex in the early case, and the area of hypoperfusion spread to the lateral frontal cortex and parietal cortex as the disease progressed. CBF was maintained in the basal ganglia, thalamus, and occipital lobes.
Conclusions
Hypoperfusion was initially observed in the medial frontal lobe and spread to the lateral frontal lobe and parietal lobe with disease progression. Spreading of accumulated abnormal proteins induced by mutation in CSF1R may be involved as a molecular mechanism of disease progression.
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