A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara

Abstract

CASE REPORTThe parents were descendants of the same great-grandparents (fourth generation). They denied knowledge of individuals in the family, other than their daughters, who had similar problems. Moreover, both parents and 5 of 9 maternal and paternal uncles and aunts were examined by us, and no additional cases were dliscovered. The pedigree and the HLA typing data (A, B, C, and DR) are shown in Figure 1. The HLA typing was performed on heparinized blood Figure 1, number 6), had limitation of movement of the wrists from birth. Later, she developed limitation of movement of the elbows, thumb deformities, an abnormal gait, and livedo reticularis of the legs. At the age of 12, she began to experience dyspnea on exertion. Pericarditis was diagnosed at another hospital; the condition did not respond to steroid therapy, and congestive heart failure developed. She underwent pericardiectomy at the age of 13, and the pathologic studies revealed chronic nonspecific pericarditis. When she presented to us, she had signs of congestive heart failure. She had flexion contractures of the interphalangeal joints of the thumbs, limited dorsiflexion of the wrists, and flexion contractures of the elbows and hips. The patient's asymptomatic siblings were called in for examination.Patient 2. This 14-year-old girl (Figure 1, number 7) had a history of trigger thumbs which resolved during her primary school years. At presentation, she had tenosynovitis of the wrists with limited dorsiflexion, flexion contractures of the elbows, limited internal rotation of the hips, synovitis of both knees, and limited plantar flexion of the ankles.Patient 3. This 13-year-old girl (Figure 1, number 8) exhibited camptodactyly of both fifth fingers and subluxation of the interphalangeal joint of the right thumb. In addition, she had limited movement of the wrists, flexion contractures of the elbows, limited movement of the hips, minimal synovitis of the knees, limited dorsiflexion of the feet, and livedo reticularis of the legs. Three years previously she had 2 bouts of acute pericarditis, separated by a few months. The

Syndrome of Camptodactyly, Arthropathy and Coxa Vara (Cac Syndrome)

“…Laxer et al 7 and Bultlar et al 6 reported three additional patients with this association; although our propositus presented to the local hospital with pericardial rub suggesting pericarditis, follow-up in our institution did not support such findings, raising the possibility that pericarditis may be a reversible phenomenon. Out of 21 patients described in the literature besides our patient, only six had the combination of CAP syndrome.…”

“…This is the first series of this familial arthropathy with a triad of camptodactyly, arthropathy and coxa vara (CAC syndrome) in Saudi Arabia which is to be considered in patients where more than one family member has juvenile arthritis. Ann Saudi Med 1994; 14 (6):479-482. Familial arthropathy associated with congenital camptodactyly has been previously recognized as a definite clinical entity by several authors.…”

“…Familial arthropathy associated with congenital camptodactyly has been previously recognized as a definite clinical entity by several authors. [1][2][3][4][5][6][7][8][9] In 1984, Martin-Lavin et al 5 reported the association of pericarditis with arthritis and camptodactyly in five members of a Mexican family. The clinical spectrum of this disease seems to be variable.…”

“…The clinical spectrum of this disease seems to be variable. Bultular et al 6 described four Turkish patients in whom coxa vara was a further component of the disease. We describe a Saudi family with three children who manifested with similar findings.…”

Camptodactyly Arthropathy CoxaVara Pericarditis Syndrome: Early diagnosis prevents unnecessary and harmful treatment

“…Echocardiography showed mild mitral regurge with normal systolic function. This condition was fi rst described in 1986 [4] and is a syndrome of camptodactyly, arthropathy, coxa vara and pericarditis [5]. It may also include congenital cataracts [6].…”