Introduction:

Klippel-Feil syndrome (KFS) is a disease that predominantly affects the spine leading to the fusion of vertebrae. In addition, defects in other systems are described, namely cardiovascular, renal, among others. This clinical case reports part of these changes and aims to raise awareness of this pathology and its comorbidities for the medical community. It also intends to highlight the role of the family doctor (FD) in the follow-up of the patient and his family.

Case description:

15-year-old male with no relevant medical history complains of neck and chest pain with rotation and flexion of the cervical thoracic spine. Physical examination reveals a short neck, low hairline implantation, scoliosis, cervical kyphosis, and lumbar spine straightening. Spinal CT shows fusion of several cervical and lumbar vertebrae. The hypothesis of KFS is raised and other associated malformations are investigated identifying: agenesis of the right kidney and vicarious left kidney, palatal atresia, and bicuspid aortic valve. The FD establishes contact with various specialties to create the ideal therapeutic plan.

Comment:

This case portrays the process of diagnosis and follow-up of an adolescent suspected of having a rare syndrome with osteoarticular, renal, cardiovascular, and palatine involvement. Throughout this process, the FD was the health care manager. The longitudinal support provided to the patient and his family was essential to overcome periods of uncertainty and fragility. It is expected that in the future, osteoarticular structural abnormalities may cause functional limitations, with a consequent reduction on his quality of life. This process has been discussed with the patient and his family to create strategies to prevent future comorbidities and to improve quality of life with physical rehabilitation.

        · abstract in Portuguese     · text in Portuguese     · Portuguese ( pdf )