Introduction Overview a rare congenital condition characterized by multiple abnormal segments of cervical spine typically has congenital fusion of 2 or more cervical vertebrae treatment is usually observation and restriction of contact sports if the anomaly extends proximal to C2. Pathophysiology due to failure of normal segmentation or formation of cervical somites at 3-8 weeks gestation Genetics SGM1 gene (Chr 8) Notch and Pax genes Associated conditions congenital scoliosis Sprengel's deformity (33%) renal disease (aplasia in 33%) deafness (30%) congenital heart disease / cardiovascular (5-30%) synkinesis (mirror motions) brainstem abnormalities congenital cervical stenosis basilar invagination atlantoaxial instability (~50%) adjacent level disease (100%) degeneration of adjacent segments of cervical spine that has not fused is common due to increased stress Classification Several classifications have been proposed, none agreed upon important to note extent and locations of fusions fusions above C3, especially those with occipitalization of the atlas are most likely to be symptomatic and require abstaining from contact sports fusions below C3 are least likely to be symptomatic, and most likely to have a normal life span Presentation Symptoms stiff neck Physical exam classic triad (seen in fewer than 50%) low posterior hair line short webbed neck limited cervical ROM secondary to this, the condition may be confused with muscular torticollis other findings high scapula (Sprengel Deformity) jaw anomalies partial loss of hearing torticollis scoliosis Imaging Imaging recommended views AP, lateral, and odontoid views findings basilar invagination is seen on lateral view defined as dens elevation above McRae's line atlantoaxial instability is present when the atlanto dens interval is greater than 5 mm cervical spinal canal stenosis is seen when spinal cord canal < 13 mm degnerative changes degnerative disease of the cervical spine is seen in 100% calcifications calcifications may be seen within the intervertebral space resolution within 6 months is common Treatment Nonoperative observation, OK to participate in contact/ collision sports indications asymptomatic patients with fusions of 1-2 disc spaces below C3 observation, abstain from contact / collision sports indications asymptomatic patients with fusion involving C2 most common presentation long fusions modalities counseling important to avoid activities that place the neck at high risk of injury contact sports, gymnastics, football, wrestling, trampoline, etc Operative surgical decompression and fusion indications basilar invagination chronic pain myelopathy associated atlantoaxial instability adjacent level disease if symptomatic
QUESTIONS 1 of 1 1 Previous Next (OBQ11.117) The 10-year-old boy shown in Figures A-B wishes to participate in junior football. A cervical spine CT scan is shown in Figure C. His renal evaluation shows unilateral renal aplasia and his cardiac evaluation is normal. What is his most likely diagnosis and the most appropriate corresponding medical clearance decision for playing football? Tested Concept QID: 3540 FIGURES: A B C Type & Select Correct Answer 1 Klippel-Feil syndrome with no participation in contact sports 83% (3257/3902) 2 Down's syndrome with no participation in contact sports 2% (94/3902) 3 Holt-Oram syndrome with no participation in contact sports 5% (201/3902) 4 Down's syndrome with full participation in contact sports only following skeletal maturity 1% (31/3902) 5 Klippel-Feil syndrome with full participation in contact sports only following skeletal maturity 8% (297/3902) L 2 Question Complexity C Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 1 Review tested concept