5.1 Congenital Brain Disorders and Craniocervical Junction Anomalies

The developing brain is at risk for injury from conditions like ischemia, hemorrhage, infection, and rarely tumors. If a pregnancy is able to continue despite such insults, the child is frequently born with hemiparesis or hemiplegia and a consequent risk for the development of scoliosis. These cases are relatively uncommon, however, and most of the neuroaxial anomalies causing scoliosis occur within the spinal cord. They are all variations of or related to spinal dysraphism or other developmental anomalies, such as Chiari malformation and diastematomyelia. Anomalies can also be caused by acquired conditions, such as trauma, ischemia, and in particular tumors of the spinal cord. Abnormalities of the craniocervical junction are frequently seen in conjunction with early onset scoliosis (Fig. 5.1).

5.2 History

In addition to the standard history taken for any patient with scoliosis, questions regarding developmental milestones should be specifically asked. It is important to discuss antenatal factors, including the method of conception, any ultrasound examinations or measurements done while the baby was in utero, the mother’s drug history, and of course any relevant family history.

The birth itself needs to be explored, and it is important to review the initial examination of the child that was performed after delivery. A developmental assessment should be undertaken, based on both the history and the information in any charts that the parents can provide. In the United Kingdom, there is a “Red Book” that contains all the routine developmental assessments that health professionals have performed on babies, and this can often provide significant information if the parents are not able to provide such. Important milestones to assess in regard to neuroaxial anomalies include the time when the child was able to fix and focus (to detect diplopia associated with Chiari malformation) and to swallow. It should be determined whether the child has had repeated chest infections or aspiration-type symptoms. More standard developmental milestones should also be assessed, including sitting, crawling, walking, and hand function. Continence issues may be relevant depending on the age of the child, and it is important to determine not only when continence was achieved but also its nature. For example, daytime urinary incontinence is of greater significance than nighttime wetting in a child aged 4 years.

5.3 Physical Examination

In addition to a standard examination of the patient, particular care should be given to a full neurologic examination of both the peripheral and central nervous system. Any limb discrepancy, including discrepancies in the length and size of the hands and feet, should be noted carefully. The neurologic development of those patients who are to undergo conservative or nonoperative treatment should be monitored regularly. During the physical examination, the entire midline region should be carefully examined from the palate and face all the way down to the anus. Particular care should be taken to look for any associated conditions affecting the scalp, including encephaloceles, dermoids, hairy patches, Mongolian blue spots, and pits. If any pits are found, they should not be probed, and irritant dye should not be injected into them. If the end cannot be clearly seen, the pits are better investigated rather than examined. If an underlying syndrome, such as the VACTERL (vertebral, anal, cardiac, tracheo-esophageal, renal, and limb) association, is suspected, an examination of the full anogenital system may be indicated. It may be best to have a pediatric general surgeon conduct this examination, depending on availability.

5.4 Radiologic Investigation

The investigations for neuroaxial causes of early onset scoliosis will overlap with those for all other causes of the disease. The orthopedic surgeon will often request plain films to assess and document the actual bony anatomy. If a neuroaxial cause is being sought, then magnetic resonance (MR) imaging of the entire brain and spinal cord is indicated. This will enable any associated anomalies to be identified. In particular, MR imaging is helpful for assessing the craniocervical junction, any split cord malformations, and tethering of the cord, and it may also identify some brain anomalies, such as tumors and infarction. It is important to discuss such a request with the radiologist so that the correct sequences are performed and detailed investigations of any areas that may appear to be abnormal are obtained, in particular when split cord malformations are suspected.

Computed tomography (CT) is often needed when a split cord is suspected. Although MR imaging may show the split and suggest the presence of a disruptive structure, CT will be better placed to show whether a bony spur, cartilaginous strut, or fibrous brand is involved in the split. CT should be undertaken in conjunction with MR imaging, which may help identify a split cord or a split dura (Fig. 5.2 and Fig. 5.3). In cases in which such an anomaly is noted, CT angiography may be helpful, in particular to identify major spinal arteries, such as the artery of Adamkiewicz. However, the level of information that can be ascertained from such an investigation will vary according to the child’s size and renal function (which may limit the amount of contrast that can be administered) and by the abilities of both the scanner and the radiologist. Again, close coordination with the radiologist is necessary to ensure that these tests are performed only if necessary.

Urologic investigations will often be required. Although they are not directly related to the scoliosis, they will be important to make sure that the patient does not have any neuropathic disorders of the bladder and renal system. Patients with scoliosis may also require a respiratory assessment, in particular before the administration of a general anesthetic or major surgery.