A case of neuronal intranuclear inclusion disease with recurrent vomiting and without apparent DWI abnormality for the first seven years
Shun Okamura, Makoto Takahashi, Keisuke Abe, Akira Inaba, Jun Sone, Satoshi Orimo
Abstract
; this may form the genetic basis for NIID. Retrospectively, we found that abnormal cerebellar signals besides the vermis in the fluid attenuation inversion recovery (FLAIR) images were detected early-on in the disease. Periodic vomiting may be the only symptom of NIID in the early stages of the disease, and cerebellar abnormalities in FLAIR may serve as an important finding in the diagnosis of NIID, even in the absence of characteristic clinical symptoms or abnormal DWI signals at the cerebral corticomedullary junction.
Topics & Concepts
Fluid-attenuated inversion recoveryMedicineVomitingPathologyAbnormalityLesionWhite matterBiopsyRadiologyMagnetic resonance imagingSurgeryPsychiatryGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyRNA regulation and disease