Algorithm for torticollis diagnosis in children of younger age groups

Torticollis

Causes

Congenital

Physiological

·  Physiological lateralization of the head in newborns and infants during the first months of life

Muscular

· Idiopathic muscular torticollis.

· Aplasia of the SCMM.

· Abnormalities of the trapezius muscle, the elevator muscle of the scapula

Bone

· CM in the craniocervical region (abnormalities in С₀–С₁–С₂, a fusion of the vertebrae, hemivertebrae, etc.)

Cutaneous

· Congenital alar folds of the neck

Other causes

· Skull deformities.

· CM of the shoulder girdle (Sprengel’s deformity).

· Cervical ribs.

· Syndrome of contractures and deformities (seven/eight syndrome)

Acquired

Muscular

· Chronic inflammatory processes in SCMM

CS injury

· Birth/postnatal CS injury

Other injuries

· Injury of the shoulder girdle (clavicle fracture, etc.).

· Brachial plexus injury

Manifestation of CS CM

· Manifestation of CS CM in the presence of injury.

· Acute torticollis against the С₂–С₃ tropism abnormalities

Tumors of the CS and neck

· Bone tumors (eosinophilic granuloma, osteochondroma, osteoid osteoma, etc.).

· Tumors of the soft tissues and organs of the neck

Infection

· Spondylitis: specific granulomatous (tuberculosis, mycosis, syphilis, etc.), nonspecific purulent (Staphylococcus spp. and E. coli), post-manipulation.

· Discitis, epidural abscess.

· Infection of the soft tissues of the neck (cervical lymphadenitis, etc.).

· Infectious and inflammatory diseases of the ENT organs

Inflammation

· Grisel’s torticollis.

· Juvenile idiopathic arthritis

Benign acute torticollis

· Uncovertebral wedge syndrome of С₂–С₃, С₃–С₄

Hyperelasticity of the ligamentous apparatus of CS

· Down’s syndrome, hereditary connective tissue disorders (Marfan’s syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta), mucopolysaccharidoses

Dermato-desmogenic

· Cicatricial changes in the skin and soft tissues of the neck (post-burn, post-traumatic, post-inflammatory, and post-operative)

Dystonic

· Hereditary dystonia (spastic torticollis, etc.).

· Secondary dystonia

Neurogenic

· Damage to the central or peripheral nervous system of various origins, mainly at the level of the PCF and the craniocervical region (cerebellar tumors, cysts, etc.)

Ophthalmic

· Strabismus, nystagmus, Duane syndrome, and Brown syndrome.

· Spasmus nutans

Vestibulocochlear

· Conductive/sensoneural bradyacuasia

Sandifer syndrome

· Gastroesophageal reflux

Benign movement disorders of childhood

· Benign paroxysmal infantile torticollis

Stage

Characteristics

Medical history

· Age of onset of torticollis.

· Pain (yes/no), constant/intermittent.

· Recent events: injury (mechanism and prescription), awkward position, head and neck surgery, infectious symptoms (fever and sore throat).

· Taking medications (e.g. metoclopramide).

· Associated complaints (hyperthermia, signs of infection, headache, strabismus, vomiting, gait disorders, balance problems, etc.)

Anamnesis vitae

· The course of pregnancy (uterine abnormalities, intrauterine position of the fetus, oligohydramnios).

· A traumatic course of childbirth.

· Concomitant diseases

Clinical examination

· Head position (shoulder tilt, rotation, etc.).

· Head and face (facial asymmetry and plagiocephaly).

· Amplitude/pain of active and passive movements in the CS (in the absence of a recent injury).

· Palpation of the neck (general, SCMM, and CS) (pathological formations, pain, and lymph nodes.)

· Craniocervical dysmorphias.

· General pediatric examination.

· Infectious symptoms (fever, sore throat, etc.)

· Neurological symptoms (strabismus, ataxia, etc.)

· Consultation of highly specialized doctors (according to indications): orthopedist, traumatologist, surgeon, vertebrologist, neurologist, ophthalmologist (with visual field assessment), otolaryngologist, infectious disease specialist, gastroenterologist, neurosurgeon, rheumatologist, geneticist, etc.

Examination methods (according to indications)

· Clinical/biochemical blood test.

· US of the SCMM.

· US of the cervical lymph nodes, soft tissues of the neck.

· US of the brain: TTUS, TUS in pediatric patients with a closed fontanel.

· CS US.

· X-ray of the CS (without functional tests).

· CT scan of the brain.

· CS CT.

· Brain MRI±contrast.

· CS MRI±contrast.

· Others: EEG, ECG (heart rate with head position change), ENMG.

Congenital forms

Physiological lateralization of the head [10]

· In healthy newborns up to the age of 2–5 months in the supine position in an unstimulated state, the head turn to one side (usually to the right) predominates.

· The cause is the fixed head position in fetuses in cephalic presentation → uneven irritation of the hair cells of the inner ear when the mother walks → dominance of the left otolithic apparatus.

· Fetuses in the breech presentation have great freedom movement of the head, with no head lateralization.

· Turning the head in the opposite direction is not limited.

· Palpation of the CS: no abnormalities.

· US of the sternocleidomastoid muscles is normal.

· US of the brain (TTUS) — no pathology.

· CS US — no pathology

Congenital muscular torticollis (idiopathic) [8, 11, 12]

· Shortening, cicatricial changes in SCMM.

· Unknown causes: intrauterine (malformation, inflammation, ischemia, prolonged tilted fetal head position, and increased degeneration of myoblasts with predominance of fibroblasts); genetic predisposition; intranatal (injury/ischemia of SCMM).

· Head tilt in the direction of the affected SCMM and turn in the opposite direction, limited mobility in the CS, and face and skull asymmetry.

· Early form (4.5–14 %): from the first days of life.

· Late form: from the end of week 2 of life: an inclined head position and a dense thickening (pseudotumor) in the middle lower part of the SCMM (maximum dimensions by the week 4–6: hazelnut/walnut).

· In the area of the affected muscle, the skin is intact, without signs of inflammation.

· SCMM US: induration (pseudotumor) and fibrosis.

· Outcome: complete regression during conservative treatment/spontaneously after 2–12 months (induration disappears and SCMM elasticity and extensibility are restored); in 11%–20% of cases, fibrous degeneration of the SCMM (increased density, tension, and thinning of the muscular pedicles, the skin over the tense muscle is raised in the form of a “backstage”), an increase in deformities of the face, skull, spine, shoulder girdle

Congenital muscular torticollis in aplasia of the SCMM [8, 11]

· Aplasia of the SCMM on one side → predominance of intact muscle tone.

· The head is tilted and turned toward the healthy muscle, the chin is slightly raised.

· On the unaffected side has the skull flattening, the corner of the eye and mouth is lower.

· On the affected side, the contours of the SCMM are not defined, in its projection, with soft tissue retraction in the form of a gutter (from the mastoid process to the sternoclavicular joint), the shoulder girdle is lowered.

· Active head tilt toward aplasia is limited; when trying to passively eliminate the malposition, the head is freely brought to the middle position

Congenital muscular torticollis with abnormalities of the trapezius muscle, the elevator muscle of scapula [8]

· Congenital underdevelopment and shortening of the muscles (mainly the anterior sections of the trapezius muscle).

· The head is tilted toward the modified muscle, tilted backward, and turned in the opposite direction±high position of the scapula

Bone torticollis in CS CM [3, 23, 24]

· Malformations of С₀–С₁–С₂, a fusion of the vertebrae, wedge-shaped vertebrae/hemivertebrae, etc.

· The inclined position of the head from an early age, progressing with time, facial asymmetry, CS movement limitations.

· ± craniocervical dysmorphias (short neck, low hairline, ear abnormalities, etc.).

· Passive removal of the head in the middle physiological position and the position of hypercorrection is possible in young children.

· Palpation of the SCMM: no abnormalities.

· SCMM US: no pathology.

· Neurological status: normal/bulbar syndrome, cervical myelopathy, headaches, dizziness, etc.

· Radiography±CT of CS

Cutaneous [1, 2]

· Congenital alar folds of the neck (pterygium coli).

· Triangle-shaped skin folds, from the lateral surfaces of the head to the shoulder girdle, short neck±CM of muscles

Seven/eight syndrome [25–27]

· Syndrome of contractures and deformities.

· Causes: fetal malposition due to the cramped intrauterine space (large fetus, oligohydramnios, and deformity of the mother’s pelvis).

· Syndrome of seven/seven contractures [26]: plagiocephaly, torticollis, thoracolumbar scoliosis, limited hip abduction (often on the left), pelvic deformity, and foot deformity.

· Eight syndrome [27] + leg deformity

Acquired forms

Torticollis in the birth injury of the CS [8, 23, 28]

· Musculoskeletal damage, articular apparatus (mainly motor segments of С₀–С₃), more often by the type of sprain, and rarely fractures.

· Intranatal risk factors: cervical stiffness, labor induction accelerated labor, head malpositioning (asynclitic, occipital, and facial), breech presentation, large fetus, narrow pelvis, obstetric aids (pushing out, forceps, and vacuum extraction), emergency cesarean section, and others.

· External signs of traumatic childbirth: pronounced head configuration, scalp injury (cephalohematoma, etc.), clavicle fracture, hemorrhages in the sclera, etc.

· Pathological position of the head (tilt to the shoulder and tilting back), restriction of CS movements (an attempt to bring the head to the middle position with crying due to pain).

· Pain in the CS: moderate/severe, maximal in 1 week of life, but may persist up to 6 months, on palpation, during head manipulations, and when trying to raise the head in the prone position.

· The SCMM is painless.

· The tension of the suboccipital and posterior cervical muscles.

· Symptom of “short neck” and “raised shoulder girdle.”

· Neurological symptoms: no/cervical myelopathy, bulbar syndrome

CS injury [3, 23, 24]

· Young children: more often auto injury; schoolchildren: sports injury.

· Ligament injury, dislocations/subluxations, and fractures.

· Immediately after the injury: local neck pain, pain on palpation of the spinous processes, limited CS movements, the rigidity of the paravertebral muscles, torticollis (in case of damage to the craniovertebral region)±neurological symptoms.

· Pain is moderate or may be absent.

· Lateral X-ray of the CS (in case of a serious injury in the complete absence of symptoms).

· CS CT (in the absence of neurological symptoms).

· CS MRI (with neurological symptoms).

Manifestation of CS CM [3, 23, 24]

· Minor injury (push in the back, somersault, and sharp turn of the head) in case of CM of CS → pain and limited CS movement, and torticollis±neurological symptoms.

· Blocking due to abnormalities is possible

Acute torticollis in case of С₂–С₃ tropism abnormalities

· Unilateral subluxation in the С₂–С₃ zygapophysial joint with minimal injury in case of an anomaly — a different plane position of the zygapophysial joints.

· The impossibility of flexion-extensor movements and the forward position of the head.

· In healthy children after a sharp forward bend (headstand and sharp nod).

· Neurological status is normal.

· CS X-ray (lateral projection): straightening of lordosis, overlapping of the articular space of zygapophysial joints of С₂–С₃ by the superior articular process of С₃.

· CS CT: unilateral subluxation of С₂–С₃

Acute torticollis in the syndrome of “uncovertebral wedge” of С₂–С₃, С₃–С₄ [3, 25]

· Benign acute torticollis.

· Compression of the periosteal-fascial tissue in the uncovertebral fissure against the head movements or prolonged lateral flexion of the neck during sleep → “wedge” of edematous tissues → irritation of the posterior longitudinal ligament → antalgic position of the head.

· Age: more often schoolchildren (up to 80%).

· No history of recent injury.

· Seasonality: autumn-winter period.

· More often spontaneous onset in the morning with absolute health.

· Sudden severe unilateral pain in the middle of the neck, aggravated in an upright position (due to increased pressure on the intervertebral disc and in the uncovertebral “slit” itself).

· Torticollis: the predominance of the lateral tilt of the head in the opposite direction from the pain.

· Movements in the CS are impossible in the direction of pain, but possible in the opposite direction; lateral tilts are predominantly limited, rotation is impaired to a lesser extent.

· The duration of the pain syndrome is 3–5 days.

· MRI of the CS in the first 1–3 days (fat suppression mode): on the side of pain, there is hyperintense triangular luminescence in the area of the uncovertebral joints at the outer edge of the disc of С₂–С₃, С₃–С₄, and the luminescence disappears after a few days.

· Possible complication: atlas-axial rotational blockage (rotational positioning of the head, blockage of rotational movements, according to functional CT, no rotation of С₁ around tooth of С₂)

Tumors of the CS and neck [14, 15, 23, 24]

· Bones (eosinophilic granuloma, osteochondroma, osteoid osteoma, etc.).

· Soft tissues and organs of the neck (lymphoma, etc.).

· Nonspecific symptoms and their moderate severity: pain in the CS (including nocturnal), limited CS movements, torticollis, pain on palpation of the CS.

· Radiography, CT, and MRI of the CS

Infection

[24, 29–32]

Nonspecific purulent spondylitis (osteomyelitis)

· Staphylococcus spp., E. coli, etc.

· Cervical vertebrae of ≈5 % of cases, more often in С₃–С₇ and less often in С₂ body and С₁ lateral masses.

· Acute (<2 months)/subacute (2–6 months)/chronic (>6 months).

· Anamnesis: infections with febrile fever and prolonged antibiotic therapy, sepsis, surgeries, and manipulations.

· Concomitant diseases with immunodeficiency.

· Pain and restricted CS movements, local pain on palpation, forced head position, kyphosis, and febrile/subfebrile fever.

· Infants of the first year of life have no characteristic symptoms until vertebral complications (sepsis → 3–12 months → kyphosis).

· Blood: moderate leukocytosis, increased ESR and CRP level, and procalcitonin test.

· Complications: meningitis, pathological fracture, paravertebral/epidural abscess, myelopathy, etc.

· X-ray, CT of the CS are not informative in the early stages (the first 2–4 weeks).

· CS MRI with contrast is the method of choice at an early stage (days 2–4)

Tuberculous spondylitis

· Cervical vertebrae are rarely affected.

· Total/subtotal destruction of the bodies of several vertebrae.

· Spinal deformity (kyphosis) is the first symptom, with moderate pain and myelopathy.

· Loss of appetite, night sweats, and fever.

· Blood: moderate leukocytosis, increased ESR and CRP levels.

· Immunological tests (Mantoux, diaskintest, QuantiFERON test, etc.) have low diagnostic values.

· CT and MRI.

· Verification of the diagnosis: bacteriological confirmation on the material from the lesion focus

Neck soft tissue infection

· Cervical lymphadenitis, acute surgical pathology (abscess, festering neoplasm of the neck, and phlegmon).

· Torticollis with pain syndrome, fever, local swelling, hyperemia, enlarged lymph nodes, leukocytosis, increased ESR and CRP level

Grisel’s torticollis

[8, 33]

· Inflammatory spondyloarthritis of the lateral atlas-axial joint on one side against/after infectious and inflammatory diseases of the ENT organs, soft tissues of the neck, teeth (tonsillitis, otitis media, mastoiditis, retropharyngeal abscess, etc.); after tonsillectomy or other interventions in the nasopharynx → spasm of the homolateral deep suboccipital muscles attached to the atlas → displacement and rotation of the atlas.

· A predisposing factor is the weakness of the С₁–С₂ ligaments.

· Torticollis with the tilt of the head in a healthy side, turn in the opposite direction, and toward the affected joint.

· Palpation of the upper cervical vertebrae with tenderness and protruding spinous process of the C₂ vertebra.

· On the side of head rotation, there is a tension of the SCMM and posterior neck muscles.

· Active movements in the CS are absent/difficult.

· Upon examination, the pharynx has dense elevation along the posterior wall of the pharynx, which changes in size when turning the head (the atlas has shifted forward and upward).

· Acute/subacute infection of ENT organs, soft tissues of the neck, and teeth.

· CS X-ray (through the open mouth) shows rotational subluxation of the atlas.

· CT and MRI of the CS

Inflammation [34–38]

CS injury in juvenile idiopathic arthritis

· Arthritis of the atlas-occipital and atlas-axial joints.

· Limited range of motion in the CS is the most common symptom, with pain in the neck, pain upon CS palpation, morning stiffness, and torticollis±cervical myelopathy.

· Possibly asymptomatic.

· CS X-ray with low sensitivity in the early stages of arthritis.

· CS MRI with contrast is the method of choice in the early stages of arthritis (image evaluation 5–10 min after contrast injection to differentiate between the thickened synovial membrane and the joint fluid).

· Indications for CS MRI: clinical signs of CS lesions, arthritis of the temporomandibular and shoulder joints, and polyarticular arthritis.

· Consequences: C₂–C₃ ankylosis; atlas-axial instability/dislocation → spinal stenosis (increased distance between the anterior C₁ arch and C₂ odontoid process of ≥3–5 mm and decreased distance between C₂ odontoid process and C₁ posterior arch of <13 mm); atlas-axial rotation block

Hyperelasticity of the CS ligamentous apparatus [23, 24, 39]

· In systemic genetic diseases: Down syndrome, connective tissue disorders (Marfan, Ehlers-Danlos syndrome, and osteogenesis imperfecta), and mucopolysaccharidoses.

· Weakness of the ligamentous apparatus of the atlas-axial joints → atlas-axial and atlas-occipital instability.

· Minor impact on the neck → atlas-axial dislocation → spinal stenosis → myelopathy.

· Probability of neurological symptom occurrence/aggravation during intubation

Neurogenic torticollis [7, 8, 14–17, 19–21, 40]

· Cause: damage to the central or peripheral nervous system of various origins.

· Pathology of the PCF and craniocervical region: tumors (cerebellum, etc.), malformations (Chiari syndrome, Dandy-Walker syndrome, arachnoid cysts, etc.), syringomyelia, hemorrhage, abscess, and hydrocephalus, and less often, several neuromuscular diseases, a fixed spinal cord, etc.

· Mechanisms of development: oculomotor compensation, liquor-dynamic disorders, compression/irritation of the nuclei of the bottom of the ventricle IV, cerebellum, vestibular nerve, accessory nerve, and posterior upper cervical roots, and stretching of the dura mater.

· Incorrect head position at rest: tilt to the shoulder forward, backward, and turn to the side as permanent/inconstant.

· Previously normal head position.

· ± limitation of active and passive movements in the CS.

· ± pain in the occiput and neck.

· Palpation of the SCMM: no abnormalities.

· Neurological status: normal/syndrome of intracranial hypertension/focal neurological symptoms.

· US of the SCMM: normal.

· Screening for intracranial pathology: TTUS/TUS.

· Screening of spinal pathology: CS US.

· Expert imaging: brain and CS MRI

Dystonic syndromes [2, 4–7]

· Hereditary primary dystonia: focal cervical dystonia (spastic torticollis), dystonia – whisper dysphonia±torticollis (mutation in the TUBB4 gene), myoclonus dystonia, etc.

· Dystonia in neurodegenerative diseases: Wilson’s disease, etc.

· Secondary dystonia: perinatal damage to the central nervous system, drug-induced dyskinesia (for example, antipsychotics, cerucal, and anticonvulsants), tumors in the subcortical nuclei, etc.

Ophtalmic [1, 2, 41]

· Strabismus, nystagmus, Duane, and Brown syndromes.

· Double vision compensation and binocular vision preservation.

· Consultation with an ophthalmologist and assessment of visual fields

Spasmus nutans (nodding spasm)

· Benign idiopathic oculomotor disorder.

· Onset at the age of 3–12 months, spontaneous regression at the age of 2–5 years.

· The triad of symptoms: nystagmus, yes-yes/no-no head nodding, and torticollis.

· Head nodding suppresses nystagmus through the vestibular-ocular reflex and helps to see better.

· Psychomotor development is normal.

· EEG is normal.

· US of the brain and CS are normal.

· Brain MRI and CS are normal

Torticollis in Sandifer’s syndrome [42]

· Hiatus hernia + gastroesophageal reflux + paroxysmal torticollis.

· Onset mostly in the first year of life.

· Paroxysmal repetitive pathological postures of the head (torticollis), sometimes of the trunk and limbs.

· Occur during wakefulness and disappear during sleep.

· Frequency from rare to daily multiple.

· Duration of a few seconds to tens of minutes.

· Association with food intake during meals and within 30 min after eating.

· Preservation of consciousness during attacks.

· At the time of an attack, the following concomitant symptoms are possible: motor (sucking and swallowing), gastrointestinal (vomiting and salivation), ocular (tonic eye-opening), behavioral (anxiety and crying), and respiratory failure.

· Palpation of the SCMM, CS, and suboccipital region shows no abnormalities.

· Active and passive movements in the CS are in full and are painless.

· Neuroimaging shows no pathology.

· Differential diagnostics with epilepsy (no loss of consciousness, epiactivity on video-EEG monitoring during an attack).

· Fibrogastroduodenoscopy

Benign paroxysmal infantile torticollis [42]

· A rare paroxysmal movement disorder in healthy infants of unspecified etiology.

· Onset at the age of 2–8 months, spontaneous regression at the age of 3–5 years.

· Perinatal history is not aggravated.

· Family history is often aggravated by migraine.

· Psychomotor development is normal.

· Sudden involuntary (usually after sleep) episodes of pathological head position during wakefulness (tilt to the shoulder), during several minutes, hours, and days.

· During attacks, consciousness is preserved, and the child can contact.

· Palpation of the SCMM, CS, and suboccipital region shows no abnormalities.

· Passive movements in the CS are not limited and are painless.

· Possible concomitant symptoms at the time of the attack: vegetative-visceral (pallor, perioral cyanosis, lacrimation, vomiting, and sweating), ocular (tonic eyes, nystagmus, ptosis, and mydriasis), behavioral (anxiety, crying, bad mood, and drowsiness).

· In the attack-free interval, the condition is restored.

· US and MRI of the brain and CS show no pathology.

· Differential diagnostics with epilepsy (absence of loss of consciousness, epiactivity during video-EEG during an attack).

· The prognosis is favorable and treatment is not required.

· Spontaneous regression by the age of 2–5 years, but migraines often develop by school age