FAMILIAL CAMPTODACTYLY COXA VARA PERICARDITIS SYNDROME MASQUARADING AS JUVUNILE IDIOPATHIC ARTHRITIS

Main Article Content

Shahzadi Sumbal Ghazi
Muhammad Umar Nisar
Samer Sikander
Jai Krishin

Abstract

ABSTRACT

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive disease characterized by congenital or early-onset camptodactyly, childhood-onset non-inflammatory arthropathy associated with synovial hyperplasia, constrictive pericarditis and coxa vara. This rare disease is caused by mutations in PRG4 Gene which encodes for lubricin, a protein present in synovial fluid responsible for lubrication.

The case we are reporting is of 9 and half years old boy who presented to us in pediatric Out Patient Department with early onset camptodactyly and non-inflammatory arthropathy. Synovial biopsy shows synovial hyperplasia with numerous CD68 positive multinucleated giant cells. He was discharged and physiotherapy was advised with regular follow ups.

KEY WORDS: Coxa Vara (MeSH); Lubricin (MeSH); Joint Diseases (MeSH); Arthropathy (MeSH); Osteoarthritis (MESH); Pericarditis (MeSH); Synovial Membrane (MeSH).

Article Details

How to Cite
Ghazi, S., M. Nisar, S. Sikander, and J. Krishin. “FAMILIAL CAMPTODACTYLY COXA VARA PERICARDITIS SYNDROME MASQUARADING AS JUVUNILE IDIOPATHIC ARTHRITIS”. KHYBER MEDICAL UNIVERSITY JOURNAL, Vol. 10, no. 4, Dec. 2018, pp. 221-23, doi:10.35845/kmuj.2018.18072.
Section
Case Report
Author Biographies

Shahzadi Sumbal Ghazi, Department of Pediatric Medicine, Children Hospital, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan

resident pediatric medicine 

children hospital PIMS 

islamabad

Muhammad Umar Nisar, Department of Pediatric Surgery, Children Hospital, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan

Resident in pediatric surgery

children Hospital 

PIMS islamabad

Samer Sikander, Pakistan Atomic Energy Commission (PAEC) General Hospital, Islamabad, Pakistan

resident paeds 

PAEC General Hospital 

islamabad

Jai Krishin, Department of Pediatric Medicine, Children Hospital, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan

professor and head of department paeds

children hospital 

PIMS 

Islamabad

References

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