[Rare Disease] Unusual headaches - neuronal intranuclear inclusion disease

[Rare Disease] Unusual headaches - neuronal intranuclear inclusion disease

57-year-old Liu Bo (pseudonym) has had severe headaches recently. He took some blood circulation and nerve nourishing drugs, but the symptoms did not improve. Instead, the attacks became more and more frequent...

Knowing that Director Zhong Shijiang of the Department of Neurology at Beichen Hospital was quite accomplished in treating headaches, Liu Bo made a special trip to visit him. After analyzing the images, the doctor found that Liu Bo had a characteristic image - the " ribbon sign "↓

Eventually, Liu Bo was diagnosed with neuronal intranuclear inclusion disease , a very rare disease that is often easily confused with other diseases such as cerebrovascular disease, resulting in missed diagnosis and misdiagnosis.

Neuronal intranuclear inclusion disease (NIID) is a rare hereditary degenerative multisystem disease that occurs frequently in Asia. It mainly causes damage to the central nervous system, peripheral nerves, and muscles, but may also cause damage to other organs. Its pathological changes are characterized by the presence of eosinophilic inclusion bodies in the cell nuclei of different systems throughout the body .

The clinical manifestations are complex and varied, making diagnosis difficult:

Common symptoms include cognitive decline, limb weakness, urination disorders, tremors, ataxia, and headaches;

It can also be an episodic encephalopathy, characterized by recurrent episodes of apathy, delirium, and mental symptoms accompanied by fever;

A small number of patients may also show symptoms such as essential tremor, Alzheimer's disease, Parkinson's syndrome, amyotrophic lateral sclerosis, and distal oculopharyngeal myopathy.

Despite some characteristic clinical manifestations, the diagnosis of related patients is still challenging. Like other neurodegenerative diseases, although neuronal intranuclear inclusion disease cannot be cured, active drug treatment can control and delay the progression of the disease and significantly improve the quality of life.

Director Zhong Shijiang reminds you : Once you have an unexplained headache, it is recommended that you seek medical attention promptly to avoid delaying the condition.

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