Clinical Pediatrics: Open Access
Open Access
ISSN: 2572-0775
ISSN: 2572-0775
Lidija Pocek*, Dusanka Novosel and Oleg Cmiljanic
Clinical Center of Montenegro, Montenegro
Scientific Tracks Abstracts: Clin Pediatr
Background: Hyperimmunoglobulin D syndrome is one of rare disease characterized by recurrent fever attacks. Diagnosis is based by detecting the mutation in the mevalonate kinase gene. Observation: We present a 2-year-old male patient who started having fever attacks in early childhood about 3 months of age. He had fever attacks each 3-6 weeks, accompanied by elevated markers of inflammation, abdominal pain and diarrhea. His genetic analysis for MVK gene disorders detected 2 MVK gene variants in compound heterozygous state which resulted in the Hyperimmunoglobulin D syndrome diagnosis. Keywords: Recurrent fever attacks, Mevalonate kinase gene mutation.
Lidija Pocek is affiliated to Department of Pulmonology and Allergology, Institute for Children’ Diseases, Clinical Center of Montenegro, Podgorica, Montenegro.