Scoliosis is frequently found to be associated. Diagnosis
The diagnosis depends on appropriate patient history backed by imaging studies like X ray and MRI. Lumbosacral spine radiographs help in the identification of the skeletal abnormality. MRI helps in confirmation. Treatment
Non surgical treatments include steroid injections in the lower back or radiofrequency sensory ablation. Physical therapy interventions are also helpful in early cases and are focused around mobilization, neural stretching, and core strengthening exercises. Surgical intervention is usually a last resort if all conservative methods fail. It can be treated surgically with posterolateral fusion or resection of the transitional articulation. References
Further reading
Paraskevas, Georgios; Tzaveas, Alexandros; Koutras, Georgios; Natsis, Konstantinos (2009). "Lumbosacral transitional vertebra causing Bertolottis syndrome: A case report and review of the literature". Cases Journal. 2: 8320. doi:10.4076/1757-1626-2-8320. PMC 2740102. PMID 19830065. == External links ==
MRI scans can also confirm a diagnosis; abnormal low intensities can indicate iron accumulation in the brain. Prevention
Children of affected individuals are obligate carriers for aceruloplasminemia. If the CP mutations has been identified in a related individual, prenatal testing is recommended. Siblings of those affected by the disease are at a 25% of aceruloplasminemia. In asymptomatic siblings, serum concentrations of hemoglobin and hemoglobin A1c should be monitored.To prevent the progression of symptoms of the disease, annual glucose tolerance tests beginning in early teen years to evaluate the onset of diabetes mellitus. Those at risk should avoid taking iron supplements. Treatment
Treatment includes the use of iron chelating agents (such as desferrioxamine) to lower brain and liver iron stores, and to prevent progression of neurologic symptoms. This, combined with fresh-frozen human plasma (FFP) works effectively in decreasing liver iron content. Repetitive use of FFP can even improve neurologic symptoms. Antioxidants such as vitamin E can be used simultaneously to prevent tissue damage to the liver and pancreas. See also
Human iron metabolism
Iron overload disorder

References
External links

GeneReviews/NCBI/NIH/UW entry on Aceruloplasminemia
OMIM entries on Aceruloplasminemia