1113 - Moebius Syndrome: A Unique Clinical Picture

Case Diagnosis: Moebius Syndrome

Case Description: 4-year-old female born at 35 weeks (C-section) diagnosed Moebius Syndrome at birth, presented to clinic. The patient was born in Ecuador, is G-tube dependent, and unable to sit, speak, or clear secretions. The patient presented with symptoms of limited upper and lower extremity range of motion, with stiffness of bilateral knee, ankle, and hip joints. She also had fused toes, bilateral finger amputations, weakness of facial muscles, and poor head and trunk control. Per physical therapy (PT) evaluation, the patient had decreased visual tracking, an inability to roll to prone position, inability to lift her head during tummy time, and significant drooling.

Discussions: During subsequent PT sessions, the patient had manual stretching of extremities, tummy time on a boppy pillow, and C spine extension and flexion exercises for improved head control. The patient also received sensory integrative techniques, including musical therapy, and manual stimulation of the spine, trunk, and extremities via a spike ball. Four months after PT initial evaluation, the patient was noted to have improved head control, and was able to turn her head to both sides while intermittently holding her head in the midline position. The patient continued to have poor trunk control, with plan to order a tilt and recline pediatric adaptive stroller with adjustable head and neck support.

Conclusions: Moebius Syndrome is a rare birth defect that often involves the underdevelopment of the cranial nerves. Further findings such as limb deformities and motor defects may be under-appreciated. Further studies to delineate the various symptoms and progression of motor movements post-physical therapy of Moebius Syndrome patients are warranted.