Neurological symptoms and demyelinating changes on MRI at 3 brothers with cryopyrin-associated periodic syndrome

Case Report: The cryopyrin-associated periodic syndrome (CAPS) is a rare inflammatory disease with a broad disease spectrum. By mutations in NLRP3/CIAS1 gene there is an increased production of IL-1β and thus a generalized inflammation. We present the cases of 3 brothers with unusual neurological symptoms within the primary disease. One brother, born in 1997, developed the first recurrent bouts of fever at 12 months. In the course, he also showed a maculopapular rash, and polyarthritis with 2.5 years. As neurological symptoms, he developed frontal headaches with eye pain and conjunctivitis, and a visual impairment with horizontal nystagmus and diplopia. In cranial MRI, he showed disseminated demyelination foci in corpus callosum on both sides, in both thalami and pons paramedian right. The other brother, born in 1995, developed periodic fever since the age of 2 years, polyarthritis and had a dry skin type. The boy became in the course visual impairment with nystagmus, left-side neuritis nervi optici, and right internuclear ophthalmoplegia. He also suffered from headaches, left sensorineural hearing loss and episodes of ataxia, paresthesia in the legs and fingers, and in March 2012, he developed a myelopathy at the level of conus medullaris with acute paralysis of the lower extremities, urinary retention, and fecal incontinence. In MRI, he showed multiple demyelinating foci in the thalamic nuclei, right pons, supratentorial region and left cerebellum, and in the area of spinal epiconus. The third brother, born in 2002, developed recurrent bouts of fever with 4.5 months, also a maculopapular rash and mainly gastrointestinal symptoms due to a sigmoidal inflammatory stenosis. As neurological symptoms, he developed headaches with eye pain and double vision. The cranial MRI showed no pathological findings. CAPS is a complex syndrome that can affect different organ systems. We describe the neurological symptoms in these patients and show spinal and central demyelinating changes in MRI, which should be interpreted in the context of the underlying disease.