Neuronal intranuclear inclusion disease with recurrent encephalitis

Area of Science:

• Neurology
• Neurodegenerative Diseases
• Genetics

Background:

• Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder.
• It is characterized by intranuclear inclusions and heterogeneous clinical manifestations.
• NIID can mimic other neurological conditions like mitochondrial encephalomyopathies.

Purpose of the Study:

• To report two rare cases of NIID presenting with recurrent encephalitis-like episodes.
• To highlight the diagnostic challenges and utility of genetic testing in NIID.

Main Methods:

• Case report of two patients with recurrent neurological symptoms.
• Clinical evaluation including brain MRI and cerebrospinal fluid analysis.
• Genetic testing of the NOTCH2NLC gene for GGC repeat expansion.

Main Results:

• Both patients exhibited recurrent encephalitis-like symptoms and prolonged hospitalizations.
• MRI showed temporo-occipital lobe swelling and other abnormalities.
• Genetic testing confirmed NIID diagnosis through abnormal GGC repeats in the NOTCH2NLC gene.

Conclusions:

• NIID should be considered in patients with recurrent encephalitis-like presentations.
• Genetic testing for NOTCH2NLC expansion is vital for accurate NIID diagnosis.
• Distinguishing NIID from mitochondrial encephalopathies is important for appropriate management.