Orthopaedic manifestations of arthrogryposis-renal dysfunction-cholestasis syndrome.

Abstract

BACKGROUND:

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome (MIM♯208085) is a rare multisystem disorder, which involves the kidney, liver, skin, and central nervous and musculoskeletal systems. It is inherited as an autosomal-recessive trait, associated with germ-line mutations in the VPS33B gene. In this study, the authors reviewed the orthopaedic manifestations of ARC syndrome.

MATERIALS:

Ten patients diagnosed as having ARC syndrome were the subjects of this study. ARC syndrome was confirmed by mutation analysis in 8 of the 10 patients. Medical records and radiographs were retrospectively reviewed with a focus on musculoskeletal manifestations.

RESULTS:

Seven patients either expired at 4 to 19 months of age or were presumed to have expired. The remaining 3 patients remained alive at the time of writing this manuscript and were aged from 7 to 23 months. All patients showed musculoskeletal symptoms and/or signs, which included vertical talus (7 feet, 4 patients), pes calcaneovalgus (4 feet, 3 patients), hip dislocation (6 hips, 3 patients), pathologic fractures (5 fractures in 5 patients), and rigid kyphosis (2 patients). No surgical intervention was performed. Orthopaedic treatments, other than fracture management, were abandoned soon after diagnoses were made.

CONCLUSIONS:

ARC syndrome should be included in the differential diagnosis of arthrogryposis. As there is no specific effective treatment for renal dysfunction and cholestasis, orthopaedic intervention should be postponed until long-term survival is expected, though this is unlikely.

LEVEL OF EVIDENCE:

Level IV, diagnostic studies, case series.

• Authors: Woo Young Jang, Tae-Joon Cho, Jung Yun Bae, Hae Woon Jung, Jae Sung Ko, Moon Seok Park, Won Joon Yoo, Chin Youb Chung, Jeong Kee Seo, In Ho Choi
• Journal: Journal of pediatric orthopedics (J Pediatr Orthop) Vol. 31 Issue 1 Pg. 107-12 ( 2011) ISSN: 1539-2570 [Electronic] United States
• PMID: 21150740 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• VPS33B protein, human
• Vesicular Transport Proteins

Topics

• Arthrogryposis (diagnosis, genetics, physiopathology)
• Cholestasis (diagnosis, genetics, physiopathology)
• Diagnosis, Differential
• Female
• Germ-Line Mutation
• Humans
• Infant
• Infant, Newborn
• Male
• Musculoskeletal Diseases (diagnosis, etiology, physiopathology)
• Renal Insufficiency (diagnosis, genetics, physiopathology)
• Retrospective Studies
• Vesicular Transport Proteins (genetics)