Age / Sex : 48 / M

Chief complaint: numbness of both upper and lower extremities

What is your diagnosis?

Two weeks later, you can see the final diagonosis with a brief discussion of this case (Please submit only one answer).

Courtesy : Lee Min Hee, Asan Medical Center, University of Ulsan College of Medicine

Discussion

Answer:  Klippel-Feil syndrome (type II)

Findings: C-spine plain radiographs of AP, Lateral projection, Chest PA and coronal and sagittal reformatted CT images. Segmentation failure of C2-C3-C4 vertebrae. And bony fusion of atlas (anterior arch and lateral masses) with occipital bone. Abnormal elongated bone lesion in the posterior neck, at from C5-6 level to upper back on lateral projection, indicating omovertebral bone. This extends to, and articulates with upper portion of left scapular bone, which is abnormally high in position (Splengel deformity). Also seen is spinal bifida at C2~C6 (not shown here).

Differential Diagnosis:

Discussion:

Klippel-Feil syndrome

Complex disorder characterized by congenital fusion of the cervical vertebrae with a short neck, limitation of the movement of the head or neck and a low posterior hairline.

Etiology: failure of the normal segmentation of the cervical somites during the 3rd to 8th weeks of gestation.

Incidence: 1:40,000- 42,000

Multiple system anomalies: scoliosis(60%), renal anomalies(35%), Sprengel’s deformity(30%), deafness(30%), congenital heart disease(14%)

• Type I : massive fusion of many of the cervical, upper thoracic vertebrae


• Type II: fusion at one or two interspaces with occipitoatlas fusion, hemivertebrae or other abnormalities in the cervical spine


• Type III: cervical fusion in combination with lower thoracic or lumbar fusion

May develop neurological symptoms that are secondary to the degenerative disc disease of the adjacent mobile segments, spinal instability from the hypermobility or from trauma, and spinal stenosis in later decades of life

Sprengel deformity

Congenital high scapula, a characteristic high dysmorphic scapula; most common congenital abnormality of the shoulder

Caused by arrested caudal migration of the scapula during embryogenesis

Dysplastic scapula: hypoplastic, decreased height to width ratio and occasionally with an anteriorly curved spinous process. At imaging, elevation of the affected scapula with inferior angle rotated medially pointing to the spine

M = F, left>right, bilateral in 10%

Combined anomaly

• Omovertebral bone (50%): bony or fibrous connection btw scapula and vertebra (C4~C7)


• Vertebrae (Klippel-Feil syndrome, spina bifida, hemivertebra, scoliosis)


• Rib and clavicle

References:

1. Yuksel M, Karabiber H, Yuksel KZ, et al. Diagnostic importance of 3D CT images in Klippel-Feil Syndrome with multiple skeletal anomalies: a case report. Korean J Radiol. 2005;6:278-281


2. Cho TJ, Choi IH, Chung CY, et al. The Sprengel deformity. Morphometric analysis using 3D-CT and its clinical relevance. J Bone Joint Surg Br. 2000;82:711-8


3. Nguyen VD, Tyrrel R. Klippel-Feil syndrome: patterns of bony fusion and wasp-waist sign. Skeletal Radiol. 1994;22 : 519-523


4. Füllbier L1, Tanner P, Henkes H, et al. Omovertebral bone associated with Sprengel deformity and Klippel-Feil syndrome leading to cervical myelopathy. J Neurosurg Spine. 2010;13:224-228.