Case history
Case history
A 3-month-old girl presents with a left head tilt and skull deformity. Shortly after her birth, her parents observed a tendency for her to turn her head to the right, and a few weeks after that they noted a right occipital flattening. She was twin A, born at 38 weeks via an uncomplicated vaginal delivery. She sleeps supine and tends to keep her head turned to the right. She is meeting her milestones appropriately, although she dislikes the prone position. She has limited tummy time. Physical examination reveals plagiocephaly with moderate right occipital flattening, mild right frontal protrusion, mild left temporal protrusion, and mild left zygoma flattening. Her right ear is displaced anteriorly when viewed superiorly. Her passive head position in supported sitting reveals a 15° left tilt and right rotation. She lacks the last 20° of active left rotation and has difficulty turning her head to the right. She cries when placed prone and only extends her head briefly. Ocular, hip, and neurologic exams are normal.
Other presentations
Atypical presentations of CMT are those with a nonmuscular cause including congenital superior oblique palsy, congenital vertebral anomalies, neurologic abnormalities, and infection. Children with congenital vertebral segmentation anomalies such as hemivertebrae or Klippel-Feil syndrome present with a head tilt and can have associated cervicothoracic scoliosis. 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] As with CMT, plagiocephaly can develop.[4] Intermittent torticollis associated with neurologic symptoms may indicate a posterior fossa or spinal cord tumor.[5] A transient inflammatory illness could result in an acute onset of torticollis.[6] Retropharyngeal abscesses and pyogenic cervical spondylitis are unusual infectious causes of torticollis.[7] Sandifer syndrome is an association of gastroesophageal reflux and torticollis, but it is more of a spasmodic torsional variant.[7]
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