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Congenital Neck and Back Abnormalities

by Simeon A. Boyadjiev Boyd, MD

Neck and back abnormalities can be caused by soft-tissue or bony injuries or by vertebral anomalies. Vertebral anomalies can be singular or part of a syndrome.

Congenital torticollis

The head becomes tilted at or soon after birth. The most common cause is neck injury during delivery. Torticollis that develops within the first few days or weeks of life may result from hematoma, fibrosis, and contracture of the sternocleidomastoid (SCM) muscle. A nontender mass may be noted in the SCM, usually in the midsegment. Torticollis is a frequent cause of plagiocephaly (flattening of one side of the head) and asymmetric facies (see also Cervical Dystonia).

Other causes include spinal abnormalities, such as Klippel-Feil syndrome (fusion of the cervical vertebrae, short neck, and low hairline, often with urinary tract abnormalities) or atlanto-occipital fusion. CNS tumors, bulbar palsies, and ocular dysfunction are common neurologic causes but are rarely present at birth (see Cervical Dystonia). Fractures, dislocations, or subluxations of the cervical spine (especially C1 and C2) or odontoid abnormalities are rare but serious causes; permanent neurologic damage may result from spinal cord injury.

Cervical imaging should be done to exclude bony causes, which may require stabilization.

When torticollis is due to birth trauma, frequent passive SCM stretching (rotating the head and stretching the neck laterally to the opposite side) is indicated. Injections of botulinum toxin into the SCM may help in refractory cases.

Congenital vertebral defects

Examples are idiopathic scoliosis (see Idiopathic Scoliosis), which is rarely apparent at birth, and isolated vertebral defects (eg, hemivertebrae, wedge or butterfly vertebrae), which are more likely to be diagnosed at birth. Vertebral defects should be suspected when posterior midline cutaneous, renal, or congenital lower-limb abnormalities exist. Some syndromes or associations such as VACTERL ( v ertebral anomalies, a nal atresia, c ardiac malformations, t racheo e sophageal fistula, r enal anomalies and r adial aplasia, and l imb anomalies) include vertebral defects. Alagille syndrome manifests with butterfly vertebrae, jaundice due to hypoplastic bile ducts, and congenital heart defects. Ovoid vertebrae are present in mucopolysaccharidosis and several other storage disorders.

As children grow, the spinal curve caused by a vertebral defect or defects can progress rapidly; therefore, the spine should be monitored closely. Braces or body jackets, which may have to be worn 18 h/day, are often necessary initially. Surgery may be needed if the curvature progresses. Because renal abnormalities commonly coexist, renal ultrasonography is indicated for initial screening.

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