Chronic Metacarpophalangeal Joint Instability in a Patient with Bardet-Biedl Syndrome and Brachydactyly

Case Description

We present a unique case of an 11-years-old girl with Bardet-Biedl syndrome (BBS). She underwent bilateral resection of a third supernumerary ray and fourth web space deepening in her home country during infancy. Her right hand showed a broad space between the third and fourth ray, and the fourth and fifth ray were shorter, malaligned and relatively dysplastic ([ Fig. 1 ]). Her left hand showed somewhat better metacarpal alignment but still marked shortening of the fourth and fifth ray ([ Fig. 2 ]). She reported good function without any relevant limitations during daily life activities. However, two years later she started to develop pain in her left metacarpophalangeal (MCP) IV joint after using crutches following knee surgery. These symptoms persisted during the following years despite conservative treatments, and similar symptoms moreover occurred at the left MCP V. Clinical examinations revealed a dorsopalmar joint instability and severe pain during adduction of the small finger. Magnetic resonance imaging showed exclusively mild joint effusion in the MCP V. A full range-of-motion was present in all DIP, PIP and MCP joints. As a consequence, the patient underwent MC V corrective osteotomy to realign the ray and reduce tension on the joint and periarticular structures. The symptoms promptly resolved but started to occur on the contralateral side as well, which ended in similar closing-wedge-osteotomies of right MC IV and V six months later. After two more years without any complaints MCP IV pain recurred on her left side, which was eventually addressed with a similar corrective osteotomy and dorsal capsular imbrication to reduce instability. This was again successful; however, the capsular imbrication had to be performed on MCPs IV and V of her right hand as well due to recurring instability and therapy-refractory pain. These interventions were successful only for short periods so far since the now 20-year-old patient complained about ongoing symptoms.

Publikationsverlauf

Artikel online veröffentlicht:
05. März 2020

• References

• 1 Forsythe E, Kenny J, Bacchelli C. et al. Managing Bardet–Biedl Syndrome—Now and in the Future. Front Pediatr 2018; 6: 23
• 2 Rudling O, Riise R, Tornqvist K. et al. Skeletal abnormalities of hand and feet in Laurence-Moon Bardet Biedl (LMBB) syndrome: a radiographic study. Skeletal Radiol 1996; 25: 655-660
• 3 Beales PL, Elcioglu N, Woolf AS. et al. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999; 36: 437-446
• 4 Ramirez N, Marrero L, Carlo S. et al. Orthopaedic manifestations of Bardet Biedl Syndrome. J Pediatr Orthop 2004; 24: 92-96