The Turkish Journal of Pediatrics
2013 , Vol 55 , Num 6
The first case of Bruck syndrome associated with gastroschisis
Departments of 1Pediatric Surgery, and 2Pediatric Endocrinology, Dr. Sami Ulus Maternity, Children’s Health and Diseases,
Training and Research Hospital, Ankara, Turkey. E-mail: drafsarlar@yahoo.com
Bruck syndrome is an extremely rare disorder featuring the unusual
combination of skeletal changes resembling osteogenesis imperfecta with
congenital contractures of large joints. Although the genotypic and phenotypic
features of Bruck syndrome are heterogeneous, we report a baby girl having
gastroschisis complicated with jejunal perforation in addition to bone fractures
and joint contractures, which supported the diagnosis of Bruck syndrome.
After surgical procedures for gastroschisis, the fractures were treated with
splints, and cyclic pamidronate treatment was started. On postoperative day
30, the patient was discharged without any complications. She is now seven
months of age, gaining weight and has had no additional fractures with
the ongoing pamidronate treatment. Although prematurity and low birth
weight are common in gastroschisis, musculoskeletal anomalies have not
been reported until now, and thus the case is unique. Additionally, cyclic
pamidronate administration is a good treatment choice for bone fragility in
Bruck syndrome to reduce the number of fractures, and it may be beneficial
for the subsequent clinical deterioration of the patients.
Keywords :
Bruck syndrome, gastroschisis, osteogenesis imperfecta, joint contracture,
pamidronate.