Neuronal Intranuclear Inclusion Disease: A Case Report With Insights Into Clinical Features and Potential Therapeutic Implications

Source: PubMed Central Open Access, NCBI / U.S. National Library of Medicine

Neuronal intranuclear inclusion disease (NIID) is a chronic progressive neurodegenerative disorder characterized by the formation of eosinophilic intranuclear inclusion bodies in the nuclei of neurons in the central, peripheral, and autonomic nervous systems, as well as visceral organs. The clinical presentation of this disease is diverse, manifesting as headaches, fever, altered consciousness, dementia, seizures, sensory and motor disturbances, and autonomic dysfunction, making it prone to misdiagnosis in clinical practice. This article reports a case of NIID diagnosed through skin biopsy and genetic testing, along with a review of relevant literature. It provides an overview of the characteristics and diagnosis of NIID, emphasizing the importance of early diagnosis and comprehensive treatment in managing this rare neurological disorder.