Establishing Gait Mechanics within a Patient with Seckel Syndrome, Severe Levoscoliosis, and Left Transfemoral Amputation: A Case Report

Case Diagnosis: This is a 37 year old female with Seckel syndrome, severe levoscoliosis, congenital right hip dysplasia, and left transfemoral amputation (TFA) with a goal of returning to ambulation.

Case Description or Program Description: The last time the patient had ambulated was 20 years ago with bilateral ankle-foot orthoses, but became non-ambulatory after a right femur fracture. 10 years later, she sustained a tibia and fibula fracture complicated by osteomyelitis, which led to her left TFA. She attempted to ambulate with a prosthetic in the years post-procedure, but was unsuccessful due to poor prosthetic functionality. She was referred to physical therapy (PT) with the goal of strengthening her right leg to tolerate standing balance and establish gait mechanics.

Setting: Outpatient Amputee Clinic

Assessment/Results: PT sessions were first limited by poor standing tolerance due to lower body deconditioning. When standing, her levoscoliosis led to left truncal lean, skewing her center of gravity to the left. Without a left lower leg to offset this skewed center of gravity, she had to rely on her right hip adductors for balance. If she were to progress to ambulation with a prosthetic leg, we estimate that her conditions would lead to an energy expenditure of 2 to 2.5 times the typical amount.

Discussion (relevance): Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal restricted growth, which can lead to multiple skeletal abnormalities. This case highlights the unique challenges presented by this patient’s condition and complex medical history affecting her ability to establish gait mechanics. To our knowledge, this is the first case report that references the rehabilitation of an amputee with Seckel Syndrome.

Conclusions: In this case, the initial focus should be placed on progressively improving her functional independence, starting from her current power chair level. In addition, honest discussion about realistic potential of function should not be overlooked to avoid unrealistic expectations.