A Term Neonate with Congenital Torticollis

A 38-week term boy weighing 3,010 g (50th–90th percentile per the modified Fenton chart) is born by cesarean delivery to a 22-year-old primigravida woman. The neonate cries immediately after birth and has his face and chin tilted to the right side. The mother is diagnosed as having gestational diabetes mellitus at 28 weeks, which is well controlled with oral hypoglycemic agents. The antenatal scans are normal, with normal growth and no oligohydramnios or fetal anomalies.Detailed examination in the delivery room shows left-sided torticollis with limited painless range of movement in the horizontal and vertical planes. The left sternocleidomastoid muscle is tight, without a palpable mass or tenderness. The face is symmetrical while the neonate is quiet; however, on crying, the right corner of the mouth draws right and downward, and the left corner does not move. Bilateral nasolabial folds and forehead wrinkling are normal, suggestive of left absent depressor anguli oris (Fig 1A). There is scoliosis with bilateral dynamic congenital talipes equinovarus deformity. The posterior neckline appears normal, with no short neck or positional plagiocephaly or any other dysmorphic features. The remainder of the examination findings, including hip and other systems, are normal.Congenital muscular torticollisKlippel-Feil syndromeCraniocervical vertebral anomaliesAtlantoaxial rotatory instability/dislocationPosterior fossa tumorsGrisel syndromeIn the NICU, the midline position of the head is maintained, and manipulation and handling of the head and neck are avoided. The further evaluation of congenital torticollis is shown in Table 1.Congenital torticollis with atlantoaxial rotatory dislocation (AARD) with multiple spinal hemivertebrae, congenital kyphoscoliosis with bilateral congenital talipes equinovarus, and congenital hypoplasia of the depressor anguli oris muscle.Congenital torticollis refers to contracture or fibrosis of the sternocleidomastoid muscle on 1 side, leading to ipsilateral inclination and contralateral rotation of the face and chin. Being the third most common congenital orthopedics anomaly, its incidence varies between 0.3% and 1.9%, with a male/female ratio of 3:2. (1) AARD is defined by a loss of stability between the atlas and axis (C1 and C2) joint characterized by osseous abnormalities or ligamentous laxity. (2) Most AARD cases are diagnosed in the pediatric population, with 68% being younger than 12 years(3)(4) and the youngest infant being 7 months old and presenting with AARD secondary to infection. (5)The C1-C2 vertebral junction accounts for 60% of the total rotation in the craniocervical region. (6) The hallmark structure of the C2 vertebra is its odontoid process (the dens), which is embryologically the body of the C1 and serves as the principal attachment for stabilizing the articulation. (6) The apical dental segment does not get fused to the basal dens of the membranous C2 vertebra until 6 to 9 years of age and is fully formed only by age 12 years. (6) Until then, the transverse ligament, which holds the dens to the anterior arch of the C1 and the paired alar ligaments connecting the tip of the dens to the occipital condyles, stabilizes this joint.The presence of ligamentous laxity, robust synovia, and increased malleability makes the C1-C2 junction prone to AARD even with minor trauma. (7) The cervical hemivertebrae, as in the index case, can act as a wedge in the vertebral column, causing a curvature and further increasing the risk of instability of the joint at the level of the abnormal vertebrae. (8) Because of the spine's ability to compensate for a postural imbalance in the axial skeleton, compensatory lumbar curvature causing scoliosis in the setting of congenital torticollis is a known association. (9)AARD has been categorized into traumatic and nontraumatic. (10) Genetic conditions (Down syndrome, skeletal dysplasia, Morquio syndrome) and inflammation (Grisel syndrome) are the 2 main causes of nontraumatic AARD. (10) In this case of congenital torticollis, there is uncertainty in the etiology of AARD considering the normal fetal ultrasonography findings, early clinical presentation, and absence of other significant clinical/radiologic features other than congenital talipes equinovarus and congenital hypoplasia of the depressor anguli oris muscle, suggestive of any genetic disorder. Although the index neonate has radiologic features of type 1 AARD, the most common type, and has remained neurologically normal (Table 2), in the absence of major trauma there is a need for longer follow-up in ascertaining the definitive etiology, although there are case reports in older children presenting with AARD without identifiable causes. (11)In those at risk for neurologic deficits, alternate imaging such as magnetic resonance imaging aids in ruling out traumatic and destructive processes involving the C1-C2 junction(12) and helps in deciding treatment, which also depends on the cause, type of AARD, and maturational stage of the infant. (11)(13)For those without neurologic signs, the mainstays of treatment are early intervention therapy with age-appropriate active and passive range of motion of the neck; developing symmetry of the face, head, and neck; and avoiding contractures; and in newborns, the establishment of proper breastfeeding position, prevention of obstructive apnea, and safe handling. These are addressed using facilitation devices such as cervical collars and halter traction. (14)(15) Those with a risk of mechanical instability (atlantoaxial dislocation leading to sagittal imbalance or unilateral facet block and arthritis) and with neurologic deficits need stabilization (anterior/posterior) with atlantoaxial arthrodesis. With these measures, there is 97% improve if treatment starts before 6 months of age. (16)(17)The neonate is given multidisciplinary care involving a neonatologist, orthopedician, and occupational therapist. A specially designed facilitation device made of rigid polyethene, foam, and rivets is used for the establishment of breastfeeding, which is achieved by day 10 of age (Fig 3). Early intervention therapy using a custom-made modified cervical collar made of soft cotton cloth, foam, and strips of tough moldable cardboard is initiated to prevent the risk of neural impingement during activities of daily handling, such as changing diapers, changing clothes, and sponging (Fig 4). Hip ultrasonography is planned for follow-up.Considering the early age of presentation and the paucity of definitive clinical or radiologic features suggestive of any syndrome and the neonate being otherwise hemodynamically stable and neurologically normal, for now, genetic testing is deferred after taking a geneticist's opinion and is planned on follow-up. He is currently 4 months old and on regular follow-up with significant improvement in the torticollis and continues to be neurodevelopmentally normal (Fig 5).Atlantoaxial rotatory dislocation (AARD) is to be suspected in a neonate with congenital torticollis with no history of traumatic delivery or difficult extraction.The presence of cervical hemivertebrae increases the propensity of an AARD, increasing the risk of neural compression and neurologic deficits.Early use of custom-made cervical collars and facilitation devices aids in the establishment of breastfeeding and better and safe handling during daily activities in these neonates.We thank Dr Sangeeta Ravat, Dean, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, India, for granting permission for publication.