Chronic infantile neurological cutaneous and articular syndrome: a new case with pseudotumor cerebri

Abstract

Objectives To report the case of a seven-year-old girl who had a bilateral papilledema with chronic cutaneous and articular manifestations. Chronic infantile neurological cutaneous and articular (CINCA) syndrome is a rare pediatric multisystem inflammatory condition. Optic disc abnormalities are the most common ocular manifestation of this syndrome and consist of optic-disc swelling, pseudopapilledema, and optic atrophy. Results: We report the case of a seven-year-old girl who had cutaneous manifestations from the age of three months, articular manifestations from the age of three years, and recurrent fever. Papilledema was the sign that led us to suspect the diagnosis of the CINCA syndrome, which was confirmed by our finding of the D303N de-novo mutation of the CIAS1 gene. The pathophysiology of papilledema remains unknown, but some reports suggest that the chronic meningoencephalitis associated with the CINCA syndrome may explain it. In our patient, the cause of papilledema was pseudotumor cerebri. She had increased intracranial pressure with normal composition of the cerebrospinal fluid, normal neuroimaging studies (computed tomography and magnetic resonance imaging), and absence of localizing findings on neurologic examination. The papilledema did not resolve either with repeated lumbar punctures or acetazolamide and eventually a ventriculoperitoneal shunt had to be performed. Conclusion: The CINCA syndrome is rare and its diagnosis requires the joint workup of different specialists.