Temporal Changes in Brain Perfusion in Neuronal Intranuclear Inclusion Disease

Area of Science:

• Neurology
• Neuroscience
• Rare Diseases

Background:

• Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder.
• Patients with NIID may present with varied neurological symptoms, including disturbances of consciousness.
• Encephalitis-like episodes are not typically considered a primary manifestation of NIID.

Purpose of the Study:

• To report a case of NIID presenting with encephalitis-like episodes.
• To investigate the cerebral blood flow changes during acute episodes and recovery phases in NIID.
• To highlight the importance of considering NIID in the differential diagnosis of acute consciousness disturbances.

Main Methods:

• Case report of a patient diagnosed with NIID.
• Neurological examination to assess consciousness and rule out encephalitis/epilepsy.
• Brain perfusion single-photon emission computed tomography (SPECT) to evaluate cerebral blood flow during episodes and recovery.

Main Results:

• The patient experienced encephalitis-like episodes characterized by disturbed consciousness.
• Neurological tests did not reveal evidence of encephalitis or epilepsy.
• Brain perfusion SPECT showed elevated cerebral blood flow during episodes and reduced flow during the chronic phase with recovery.

Conclusions:

• Cerebral blood flow in NIID patients can dynamically change throughout the clinical course.
• Encephalitis-like episodes in NIID should be considered in the differential diagnosis of acute disturbance of consciousness.
• This case expands the understanding of NIID's clinical spectrum and diagnostic considerations.