Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A case of neuronal intranuclear inclusion disease with serial MRI changes observed from before onset of forgetfulness

Ryosuke Oda, M.D.1), Mai Fujikura, M.D., Ph.D.1), Takashi Hayashi, M.D.1), Manabu Matsuya, M.D.1), Jun Sone, M.D., Ph.D.2) and Shun Shimohama, M.D., Ph.D.3)

1) Department of Neurology, Saiseikai Otaru Hospital
2) Department of Neurology, National Hospital Organization Suzuka National Hospital
3) Department of Neurology, Sapporo Medical University School of Medicine

A 70-year-old woman presented with a 6-year history of cognitive dysfunction, neurogenic bladder, constipation and recurrent vomiting, and gradual worsening of symptoms. At the first admission to our department, she was also found to have hepatic encephalopathy due to intrahepatic portosystemic shunt. Head MRI revealed abnormal signal intensity at the corticomedullary junction, the splenium of the corpus callosum, and bilateral middle cerebellar peduncles on DWI. She was diagnosed with intranuclear inclusion disease (NIID) based on skin biopsy and genetic testing of NOTCH2NLC. In a retrospective review of serial head MRI findings for ten years, abnormal signal intensity at the corticomedullary junction and the splenium of the corpus callosum on MRI existed prior to the onset of cognitive dysfunction, and expanded gradually. For early diagnosis of NIID, it is important to focus not only on the characteristic high signal intensity at the corticomedullary junction, but also on the signal at the splenium of the corpus callosum from the early stage.
Full Text of this Article in Japanese PDF (3264K)

(CLINICA NEUROL, 61: 727−732, 2021)
key words: neuronal intranuclear inclusion disease, splenium of corpus callosum, serial changes, intrahepatic portosystemic shunt, hepatic encephalopathy

(Received: 26-Feb-21)