Torticollis

Congenital muscular torticollis

• Pathophysiology/Etiology
  • Unilateral contracture and shortening of the sternocleidomastoid (SCM) muscle, leading to fibrosis.
  • The exact cause is often unknown, but proposed mechanisms include intrauterine malposition (e.g., crowding), birth trauma (especially breech), or perinatal compartment syndrome of the SCM.
  • Also known as twisted neck or wryneck.
• Clinical Features: c
  • Typical onset: 1–6 months of age.
  • Posture: Head tilted TOWARD affected SCM + chin rotated AWAY from affected SCM.
  • Physical exam: Palpable, non-tender, mobile fibrous mass in lower third of SCM (fibroma colli; self-resolves).
  • Restricted neck ROM (limited rotation toward ipsilateral side).
  • Craniofacial: Positional plagiocephaly (ipsilateral occipital flattening, contralateral frontal bossing).
• Diagnosis
  • Primarily a clinical diagnosis based on physical examination of the infant’s head posture and neck range of motion.
  • Ultrasound can be used to confirm SCM thickening or fibrosis and to rule out other neck masses, though it’s not always necessary.
  • X-rays of the cervical spine may be indicated to rule out bony abnormalities if the presentation is atypical or fails to respond to treatment.
• Differential Diagnosis (DDx)
  • Klippel-Feil syndrome: Congenital fusion of cervical vertebrae.
  • Ocular torticollis: Caused by superior oblique palsy; head tilt is a compensatory maneuver to correct diplopia.
  • Neurologic causes: Posterior fossa tumors, syringomyelia, or Arnold-Chiari malformation can present with abnormal head posture.
  • Sandifer syndrome: Spasmodic torticollis associated with gastroesophageal reflux (GERD).
  • Acquired torticollis: May result from trauma, infection (e.g., Grisel’s syndrome), or inflammation.
• Management/Treatment
  • First-line treatment: Conservative management with physical therapy and a home stretching program. This includes passive stretching of the SCM and active strengthening of contralateral muscles.
  • Parental education is key: Teaching parents positioning techniques (e.g., encouraging the infant to turn their head to the non-preferred side during feeding and play) and the importance of “tummy time”.
  • Over 90% of cases resolve with conservative therapy, especially if started before 6 months of age.
  • Botulinum toxin injections or surgical release of the SCM are reserved for refractory cases that do not respond to at least a year of conservative management.
• Key Associations/Complications
  • Developmental Dysplasia of the Hip (DDH): A strong association exists (5-20% of cases), so all infants with congenital torticollis should have a thorough hip examination (e.g., Ortolani, Barlow maneuvers) and may require hip imaging.
  • Plagiocephaly: Asymmetrical flattening of the skull on the contralateral side due to the infant consistently lying on that side.
  • Untreated torticollis can lead to permanent craniofacial asymmetry and restricted neck motion.
  • Gross motor delays may occur but often resolve with treatment.