Differentials
Superior oblique palsy
SIGNS / SYMPTOMS
Children with congenital superior oblique palsy, also known as ocular torticollis, tend to tilt their head away from the side of the weak superior oblique muscle to restore binocular vision. On examination, if the head is passively tilted toward the affected side, hypertropia or vertical deviation of the eye may be seen, but this is not always obvious.[3]
INVESTIGATIONS
Ophthalmologic examination: hypertropia on contralateral side.
Central nervous system tumor
SIGNS / SYMPTOMS
Intermittent torticollis associated with neurologic symptoms may indicate a posterior fossa or spinal cord tumor.[5]
INVESTIGATIONS
Cranial/cervical spine MRI: posterior fossa or spinal cord tumor.
Vertebral anomaly
SIGNS / SYMPTOMS
Children with congenital vertebral segmentation anomalies such as hemivertebrae or Klippel-Feil syndrome present with a head tilt and can have associated cervicothoracic scoliosis. There may be more fixed deformities noted on physical examination.
INVESTIGATIONS
Cervical spine x-ray: cervicothoracic scoliosis.[Figure caption and citation for the preceding image starts]: Cervical spine x-ray showing numerous segmentation anomalies associated with a convex left cervicothoracic scoliosis. This patient presented with a head tilt. There are segmentation anomalies in the lower thoracic and high cervical region. There is an acute convex left cervicothoracic scoliosis with a hemivertebra at the apex of the curve. Butterfly vertebra is identified rostral to the hemivertebra, and segmentation anomalies are also identified caudal to the hemivertebraFrom the personal collection of Dr Joyce L. Oleszek; used with permission [Citation ends].
Craniosynostosis
SIGNS / SYMPTOMS
Cranial asymmetry resulting from craniosynostosis is not typical of that seen in CMT with positional plagiocephaly. For example, posterior plagiocephaly produces a parallelogram-shaped head, while unilateral lambdoid synostosis produces a trapezium-shaped head.[29]
INVESTIGATIONS
Skull x-ray or CT: features of craniosynostosis.
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