Benign Paroxysmal Torticollis of Infancy - An Overview

Introduction

Torticollis is a term used to describe head and neck dystonia. It can be congenital (present from birth) or acquired (occur after birth due to some abnormal condition). There can be to and fro movements of the head that can be equal (seen in tremors) or unequal (rapid movements of head and neck). Torticollis is taken from the Latin word tortus, meaning twisted. It results in fixed or dynamic posturing of the head and neck in tilt, rotation, and flexion (bending). In addition, there is a spasm of the sternocleidomastoid (muscle of the neck), trapezius (muscle of the neck), and other neck muscles. It is usually prominent on one side, causing turning or head tipping.

What Is the Pathophysiology of Benign Paroxysmal Torticollis of Infancy?

Congenital Muscular Torticollis

• Congenital muscular torticollis is rare and caused by local trauma to the neck's soft tissues just before or during delivery.

• There is trauma during birth to the sternocleidomastoid muscle that causes fibrosis.

• Malpositioning during intrauterine (inside the womb) leads to unilateral shortening of the sternocleidomastoid.

• There can be the formation of hematoma followed by muscular contracture.

• These children have undergone difficult forceps delivery, or there is a breach during the surgery.

• There can be fibrosis in the muscle because of the cervical or head position, and it can also occur due to venous occlusion (blockage of blood) and pressure on the neck in the birth canal.

• Congenital torticollis can also occur because of postural torticollis (head tilted towards the affected sternocleidomastoid with the face rotated in the opposite direction), pterygium colli (webbed neck), sternocleidomastoid cysts, anomalies related to the vertebra, odontoid hypoplasia (involuntary movements of atlas and axis), spina bifida (birth defect occurs when the spine and spinal cord do not form properly), hypertrophy or absence of cervical musculature, and Arnold-Chiari syndrome (structural defects in brain and spinal cord).

• Congenital torticollis is also associated with clavicular fractures in neonates secondary to birth trauma.

• Children suffering from torticollis may have congenital dysplasia of the hip as well.

Acquired Torticollis

The pathophysiology of acquired torticollis is dependent on the underlying disease process.

• It can result from injury or inflammation of the cervical muscles or cranial nerves.

• Acute torticollis can occur because of blunt trauma to the head and neck and sleeping in an awkward position.

• It can be self-limited or the result of certain medications. After stopping the drug, it is usually resolved.

• A chronic form may reappear after resolution.

What Is the Epidemiology of Benign Paroxysmal Torticollis of Infancy?

• Patients suffering from torticollis show mixtures of movements.

• Spasmodic features may predominate and hence be called spasmodic (sudden and episodic) torticollis.

• Torticollis with rotation is the most common and seen type.

• There is no racial predominance for torticollis.

• It is seen in females more as compared to males.

• Usually seen around 30-50 years of age.

• Post-traumatic cervical dystonia is seen within some days of injury for the acute form.

• Usually seen year after injury for the delayed form.

• Congenital muscular torticollis is seen in newborns, and its occurrence is less than 0.4%.

What Is the Etiology Associated With Benign Paroxysmal Torticollis of Infancy?

• Clinical features resemble parkinsonism. It is a neurodegenerative process.

• Abnormality or trauma of the cervical spine is associated with torticollis.

• Trauma, such as sprain or spasms, fractures, dislocations, and subluxations, often results in cervical musculature spasms.

• Infection, spondylosis (a painful condition that occurs because of the degeneration of intervertebral discs), tumor, scar tissue, or ligamentous laxity in the atlantoaxial region (inflammatory process or intrinsic defect in collagen fibers) may also cause torticollis.

• It can also occur because of calcifications of the intervertebral disk, tumors of the cervical spine, spondylitis (inflammatory disease that can cause some of the bones to fuse), arteriovenous malformations (there is disruption of normal blood flow and oxygen), and other bony abnormalities.

• Torticollis is accompanied by retropharyngeal abscesses and is potentially life-threatening.

• It is seen in children, and the incidence in adults is also increasing. Patients present with neck discomfort, fever, stridor, dysphagia (burning sensation while eating), drooling, odynophagia (pain while swallowing), and respiratory distress.

What Is the Treatment of Benign Paroxysmal Torticollis of Infancy?

• A comprehensive approach is required to treat torticollis. First, all underlying causes should be considered carefully, and then treatment is planned.

• Medical treatment consists of nonsteroidal anti-inflammatory drugs, benzodiazepines, anticholinergics, and local intramuscular injections of botulinum toxin or phenol.

• The goal of medical treatment is to reduce morbidity and complications.

• The category of medicines is as follows:

(1) Dystonia-reducing drugs include Trihexyphenidyl, Pramipexole, glutamate release inhibitors, and receptor blockers, Botulinum toxin.

(2) Selective adjuncts include Clonazepam for blepharospasm, Baclofen for oromandibular dystonia, and Propranolol or Primidone for prominent tremor.

• Physical therapy should also be considered, such as stretching exercises, massage, local heat, analgesics, sensory biofeedback, and transcutaneous electrical nerve stimulation.

• When conservative treatment does not yield results, patients may undergo brain stimulation procedures, a sternocleidomastoid release, selective denervation, or dorsal cord stimulation. In addition, surgical therapy may consist of the following:

1. Unipolar sternocleidomastoid release (unipolar release of muscle is done unilaterally).

2. Bipolar sternocleidomastoid release (bipolar release of muscle is done).

3. Selective denervation (nerves are removed when they enter hyperactive muscles).

4. Dorsal cord stimulation.

What Is the Differential Diagnosis of Benign Paroxysmal Torticollis of Infancy?

• Myasthenia gravis (a chronic autoimmune disease that weakens the skeletal muscles).

• Tremor (nervous system disorder that causes involuntary shaking).

• Multiple sclerosis (the body loses control and is unable to move).

• Neuroleptic agent toxicity (acute intoxication occurs because of recreational drugs).

• Parkinson's disease (a progressive disorder that affects the nervous system).

• Cerebral palsy (a condition of the brain).

• A retropharyngeal abscess (collection of pus in the back of the throat).

• Spinal hematoma (collection of blood that compresses the spinal cord and nerve).

• Wilson disease (is a rare inherited disorder that causes the accumulation of copper in different parts of the body.

Conclusion

Benign paroxysmal torticollis of infancy is characterized by recurrent episodes of tilting of the head secondary to cervical dystonia. Attacks are associated with vomiting, pallor, and ataxia, settling spontaneously within hours or days. Episodes are mainly seen in the first year of life and are generally resolved within five years.