Affiliations: Division of Pediatric Neurology, Department of
Pediatrics, All India Institute of Medical Sciences, New Delhi, India | Genetics and Genomics Branch, NIAMS, NIH, DHHS,
Bethesda, MD, USA | Division of Clinical Genetics, Department of
Pediatrics, All India Institute of Medical Sciences, New Delhi, India
Note: [] Correspondence: Naveen Sankhyan, MD, Division of Pediatric
Neurology, Department of Pediatrics, All India Institute of Medical Sciences
110029, New Delhi, India. Tel.: +91 11 26264288; Fax: +91 11 26588663; E-mail:
nsankhyan@rediffmail.com
Abstract: The authors report a sporadic case of a rare periodic fever, the
neonatal onset multisystem inflammatory disease. A 7-year-old boy presented
with symptoms since the age of two. He had recurrent episodes of fever, rash
and meningitis, progressive hearing loss, arthralgia and failure of growth. His
examination revealed mild dysmorphic features, clubbing, wasting, stunting, and
erythema nodosum like rash on the limbs, healed posterior uveitis and
chorioretinitis, mild spasticity in lower limbs, deafness and borderline
intelligence quotient. Investigations revealed dextrocardia, situs inversus,
absence of autoimmune markers, and elevated erythrocyte sedimentation rate.
Neuroimaging showed gliotic areas in bilateral cerebellar hemispheres. Genetic
screen for mutations in all nine exons of NLRP3 was negative. The clinical
features, variability in severity and possible genetic mechanisms are
discussed.
Keywords: CINCA, auto inflammatory, rheumatic, periodic fever, arthropathy
