(Kiosk 6) Torticollis in a 1-year Old

Case Diagnosis: Persistent torticollis due to osseous abnormalities .

Case Description or Program Description: A 12-month-old female was referred to pediatric physiatry clinic for asymmetric crawling and persistent torticollis. Patient was born at 37 weeks 3 days via spontaneous vaginal delivery with right periauricular pit noted at birth. Patient met initial developmental milestones in setting of torticollis, but developed asymmetric crawling, favoring scooting forward with her right side. Physical exam revealed a dimple on the posterior left shoulder, torticollis with head rotated right, and asymmetric crawling.

Setting: Outpatient pediatrics clinic

Assessment/Results: Cervical spine x-ray revealed multiple segmentation anomalies with midline clefting of C6-T2. Patient was referred to orthopedic surgery and CT scan revealed hypoplasia of multiple vertebral bodies, C3-4 segmental fusion, and butterfly vertebrae at C6-T2. Due to torticollis, osseous abnormalities and functional asymmetries, patient was referred to genetics, neurology, and ophthalmology to rule out syndromic features and non-dynamic causes of torticollis, which was unrevealing. Patient continues with physical therapy and is now taking independent steps.

Discussion (relevance): Pediatric physiatrists regularly evaluate torticollis typically due to congenital muscular changes, occurring in 82% of cases with resolution through conservative measures in 97% of cases. However, wide differential on evaluation is vital, including dynamic and non-dynamic causes. Non-dynamic causes include osseous, nervous system, ocular, and infection, for example. Osseous causes include butterfly vertebrae, often associated with other osseous abnormalities and organ dysfunction, warranting further investigation. This case highlights the importance of a comprehensive evaluation when osseous abnormalities are identified in children.

Conclusions: Noting subtle nuances and asymmetries on history and physical exam when evaluating torticollis is critical as possible signs and symptoms of other skeletal or neurologic abnormalities may be present, especially in children. Physiatrists must maintain a wide differential diagnosis especially when evaluating diagnoses with typical causes such as congenital muscular torticollis and incorporate a comprehensive team-based approach to evaluation.