Case Files Pediatrics, (LANGE Case Files) 4th Ed.

CASE 54

A 2-week-old male newborn presents with a “twisted neck.” He was born at term through a difficult vaginal delivery because of his large size (4550 g). On examination, his head is tilted toward the right side, his chin is rotated toward the left, and he has a palpable, firm, right sternocleidomastoid muscle mass.

Image What is the most likely diagnosis?

Image What is the best treatment?

ANSWERS TO CASE 54: Torticollis

Summary: A 2-week-old large male born after difficult delivery has torticollis and a palpable sternocleidomastoid muscle mass.

• Most likely diagnosis: Muscular torticollis.

• Best treatment: Initially, passive stretching of the sternocleidomastoid muscle.

ANALYSIS

Objectives

1. Understand the common causes of torticollis.

2. Recognize the differences in treatment of torticollis based on the etiology.

Considerations

This 2-week-old newborn had a difficult delivery because of his large size. He has torticollis (head tilted toward the right and chin rotated toward the left) as a result of decreased range of movement of the sternocleidomastoid muscle caused by the mass. Such infants are at increased risk for muscular torticollis because of sternocleidomastoid muscle injuries. Breech infants and those with hip dysplasia and metatarsus adductus also are at higher risk for torticollis.

APPROACH TO:

Torticollis

DEFINITIONS

KLIPPEL-FEIL SYNDROME: Congenital fusion of portions of the cervical vertebrae, restricted neck movement, short neck, and low hairline. Associated features include Sprengel deformity (see below) and structural urinary tract abnormalities.

SANDIFER SYNDROME: Gastroesophageal reflux (GER), hiatal hernia, and posturing of the head.

SPRENGEL DEFORMITY: Congenital elevation of the scapula.

CLINICAL APPROACH

Torticollis, identified in a patient with an obviously twisted neck with the head tilted toward one side and the chin tilted toward the opposite side, is commonly caused by injury and contracture of the sternocleidomastoid muscle. Torticollis presents at or soon after birth; infants may have experienced birth trauma and usually have a palpable, firm mass within the affected muscle. Cervical spine radiography is generally performed to rule out vertebral malformations.

If the spine is normal, therapy by the caregiver (and occasionally a physical therapist) involves gentle sternocleidomastoid muscle stretching (moving the head toward a neutral position). If the condition persists beyond the first months of life, an orthopedic consultation is indicated. Persistent torticollis can lead to facial asymmetry.

Congenital cervical vertebrae malformations can cause torticollis; gentle stretching does not improve the condition and may result in injury. Radiography demonstrates spinal anomalies such as hemivertebrae or areas of vertebral fusion or subluxation. Klippel-Feil syndrome can present as torticollis and includes congenital fusion of portions of the cervical vertebrae, restricted neck movement, short neck and low hairline, Sprengel deformity, and urinary tract abnormalities.

Torticollis presenting beyond infancy requires cautious evaluation because trauma and inflammation are common. Traumatic torticollis can occur following cervical vertebrae injury with subsequent fracture or atlanto-occipital, atlantoaxial, or C2–3 subluxation or injury to the cervical musculature; radiographic evaluation is essential. Inflammatory torticollis often follows an upper respiratory illness; muscular pain and tenderness and a normal neurologic evaluation are seen. Other inflammatory causes include cervical lymphadenitis, retropharyngeal abscess, cervical vertebral osteomyelitis, rheumatoid arthritis, and upper lobe pneumonia. Children with cervical lymphadenitis are generally afebrile and have palpable, tender cervical lymph nodes. Patients with retropharyngeal abscess may present with fever, dysphagia, dyspnea, drooling, or stridor secondary to compression.

A variety of neurologic conditions cause torticollis: Down syndrome, visual disturbances, dystonic reactions to medications (phenothiazine, haloperidol, or metoclopramide), spinal cord or posterior fossa tumors, syringomyelia, Wilson disease, dystonia musculorum deformans, and spasmus nutans. A physical examination with particular attention to the neurologic examination may identify findings associated with one of these neurologic causes. Miscellaneous causes include cervical disc calcification, Sandifer syndrome, benign paroxysmal torticollis, bone tumors, soft-tissue tumors, and hysteria.

COMPREHENSION QUESTIONS

54.1 A 3-month-old male infant has intermittent neck contortions and arching. He was term at birth, with an uneventful prenatal course and delivery. He frequently spits up after feeding, and has had one episode of pneumonia. Which of the following is the best next step in management?

A. Begin gentle stretching of the sternocleidomastoid muscle.

B. Evaluate him for gastroesophageal reflux disease (GERD).

C. Refer him for orthopedic evaluation.

D. Obtain cervical spine radiographs.

E. Observe and, if the condition persists, refer him for orthopedic evaluation.

54.2 A 5-month-old female infant presents with sudden onset of torticollis and facial grimacing, but otherwise she appears alert and interactive. She has been doing well and has gained weight for the last month after having been prescribed ranitidine and metoclopramide for GERD. Which of the following statements is accurate?

A. She is likely having a partial-complex seizure and needs an electroencephalograph.

B. A lumbar puncture for cell count, glucose, and protein is warranted.

C. Measurement of serum electrolyte and glucose levels is unnecessary.

D. She is likely having a dystonic reaction to one of her medications.

E. A cervical spine magnetic resonance image is likely to show a congenital abnormality.

54.3 A 6-year-old boy presents with torticollis, fever, sore throat, and difficulty swallowing solids and liquids but no drooling. He denies headache and dyspnea, and he remains only somewhat playful. Examination reveals posterior pharyngeal edema. Which of the following is the best next step in management?

A. Examine his cerebrospinal fluid.

B. Obtain imaging studies of the airway and soft tissues of the neck.

C. Send a throat culture and begin antibiotic therapy based on the results.

D. Begin oral penicillin.

E. Prescribe ibuprofen and neck stretching exercises.

54.4 A 1-week-old female newborn presents with her new adoptive parents. The family complains that she seems to have a twisted neck. They know only that “delivery was almost a C-section because the baby was lying sideways.” She has been feeding well and has had appropriate urine and stool output for the last 24 hours. Physical examination is significant for torticollis. Which of the following statements is most accurate?

A. She is at significant risk for aspiration pneumonia.

B. The parents should immediately begin a regimen of gentle stretching of the neck.

C. Radiographs of the cervical spine should be obtained.

D. Immediate orthopedic consultation should be arranged.

E. Immediate neurologic consultation should be arranged.

ANSWERS

54.1 B. This infant most likely has GER with intermittent torticollis (Sandifer syndrome). He has a history of frequently spitting up and has had pneumonia (possibly aspiration), indicating he has GER. Sandifer syndrome infants have abnormal head posturing associated with reflux. The head movements are thought to occur in response to pain or to protect the airway.

54.2 D. This infant has sudden onset of the dystonic features of torticollis and facial grimacing, most likely as a result of the metoclopramide. However, initial evaluation for seizures, including measurement of serum electrolyte, glucose, and calcium levels, is indicated. Diphenhydramine administration may rapidly reverse this drug-induced dystonia. An MRI is unlikely to demonstrate a cervical abnormality because the symptom onset was abrupt. Cerebrospinal fluid analysis as a first step likely will not result in determination of the cause of this type of torticollis.

54.3 B. This child has signs and symptoms of retropharyngeal cellulitis or abscess. Such patients may have fever, dysphagia, drooling, stiff neck, dyspnea, or airway stridor. Physical findings include midline or unilateral swelling that may become a fluctuant mass. Management includes antibiotic therapy with possible incision and drainage of the abscess. Computed tomography may be helpful in early identification of abscess formation.

54.4 C. This child appears to have had a difficult delivery, making muscular torticollis likely. If cervical spine radiography is normal, the parents can begin gentle stretching to move the head in a neutral position. If the condition persists, orthopedic referral is necessary.


CLINICAL PEARLS

Image Muscular torticollis is most commonly found in infants as a result of sternocleidomastoid muscle trauma.

Image Sandifer syndrome is characterized by gastroesophageal reflux and posturing of the head.

Image Drug-induced dystonia is most frequently caused by phenothiazine, metoclopramide, and haloperidol.


REFERENCES

Goldstein NA, Hammerschlag MR. Peritonsillar, retropharyngeal, and parapharyngeal abscesses. In: McMillan JA, Feigin RD, DeAngelis CD, Jones MD, eds. Oski’s Pediatrics: Principles and Practice. 4th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2006:1492-1494.

Jankovic J. Dystonia. In: McMillan JA, Feigin RD, DeAngelis CD, Jones MD, eds. Oski’s Pediatrics: Principles and Practice. 4th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2006:2371-2373.

Khan S, Orenstein S. Gastroesophageal reflux disease. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: WB Saunders; 2011:1266-1270.

Pappas DE, Hendley JO. Retropharyngeal abscess, lateral pharyngeal (parapharyngeal) abscess, and peritonsillar cellulitis/abscess. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: WB Saunders; 2011:1440-1442.

Smith ME. Inflammatory disorders of the tonsils and pharynx. In: Rudolph CD, Rudolph AM, Lister GE, First LR, Gershon AA eds. Rudolph’s Pediatrics. 22nd ed. New York, NY: McGraw-Hill; 2011:1327.

Spiegel DA, Dormans JP. Torticollis. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: WB Saunders; 2011:2377-2379.

Sucato DJ. Disorders of the neck and spine. In: Rudolph CD, Rudolph AM, Lister GE, First LR, Gershon AA eds. Rudolph’s Pediatrics. 22nd ed. New York, NY: McGraw-Hill; 2011:856-857.