A child with a novel ACAN missense variant mimicking a septic arthritis

Ital J Pediatr. 2019 Nov 20;45(1):148. doi: 10.1186/s13052-019-0719-6.

Abstract

Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new ACAN missense variant c.6970 T > C, p.Trp2324Arg. The comprehensive clinical evaluation of the patient and his family, focused on the associated clinical features (facial dysmorphisms, short stature, brachydactily), led us to suspect a hereditary condition. Our findings suggest that Aggrecanopathies should be considered in children with familial short stature, poor growth spurt and joint involvement.

Keywords: ACAN; Aggrecanopathy; Arthritis; Osteochondritis dissecans; Pediatric rheumatology.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Aggrecans / genetics*
  • Arthritis, Infectious / diagnosis
  • Brachydactyly / genetics
  • Craniofacial Abnormalities / genetics
  • Diagnosis, Differential
  • Dwarfism / genetics
  • Elbow Joint / diagnostic imaging
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense*
  • Osteochondritis Dissecans / diagnosis*
  • Osteochondritis Dissecans / genetics*

Substances

  • ACAN protein, human
  • Aggrecans