Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1H).

BACKGROUND: Odontoid dysplasia is recognized as a major component of the constellation of dysostosis multiplex lesions associated with Hurler's syndrome (MPS 1H). Because of this abnormality, there is an increased risk of atlantoaxial subluxation with potential cervical spinal cord injury. A significant alteration of the natural history of the disease with respect to the visceral, cardiac, and skeletal systems has resulted in an increased life span for MPS 1H patients associated with engraftment from normal donors. OBJECTIVE: The purpose of this study was to evaluate the longitudinal changes of odontoid dysplasia in MPS 1H following engraftment from bone-marrow transplantation (BMT). MATERIALS AND METHODS: A retrospective review of sequential plain film or cervical spine MR was performed in patients with MPS 1H. Odontoid morphology was graded as aplasia, severe dysplasia, moderate dysplasia, mild dysplasia, or normal. Odontoid morphology was plotted against the time interval. Fully engrafted, nontransplanted, and partially engrafted patients had careful imaging evaluation of the odontoid process. RESULTS: Ten patients were studied with a mean interval follow-up of 8.7 years post-BMT. Seven patients were totally engrafted. Two patients were nontransplanted, and one patient had only partial engraftment (20% enzyme activity). All totally engrafted patients had a progressive improvement in the grade of odontoid dysplasia following BMT. Patients with partial engraftment or without transplantation demonstrated static or increasing odontoid dysplasia. MR imaging showed abnormal dural soft-tissue masses at the level of C2 in all patients. Reduction in the grade of odontoid dysplasia was not associated with significant change in the appearance of the upper cervical soft-tissue masses. CONCLUSION: For the first time, this report documents that patients with MPS 1H show a decrease in the degree of odontoid dysplasia on imaging after successful engraftment following BMT.

Aortic dissection in young patients with chronic hypertension.

We describe four patients aged 14 to 21 years who developed acute aortic dissection. In three of the four patients, the course was fatal, despite aggressive medical and surgical intervention. All four patients had sustained systemic hypertension related to chronic renal insufficiency. The patients had no other identifiable risk factors for aortic dissection, including congenital cardiovascular disease, advanced atherosclerosis, vasculitis, trauma, pregnancy, or family history of aortic dissection. Although aortic dissection is rare in individuals younger than 40 years of age, young patients with sustained systemic hypertension are at increased risk for this serious and often fatal condition. Physicians must be aware of this rare complication of hypertension and consider aortic dissection in the differential diagnosis of unusual chest, abdominal, and back pain in hypertensive children, adolescents, and young adults.

Axillary artery aneurysm in tuberous sclerosis: cross-sectional imaging findings.

A 10-month-old boy with a known diagnosis of tuberous sclerosis presented with axillary and brachial masses. Cross-sectional imaging with computed tomography, magnetic resonance, and ultrasound demonstrated unsuspected aneurysms of the axillary and brachial arteries. The results of these studies significantly changed the preoperative planning for this patient, who was scheduled for a biopsy of a presumed soft-tissue tumor. To our knowledge, this is the first description of the cross-sectional imaging findings in the extremity peripheral vascular manifestation of tuberous sclerosis; it has only been previously described on angiography in one case. The rare association of peripheral arterial aneurysms with tuberous sclerosis is important to recognize not only for clinical diagnosis but also for appropriate surgical treatment and genetic counseling.

Syringomyelia in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): imaging findings following bone marrow transplantation.

We present the imaging findings in a patient with mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) who developed holocord syringomyelia. This represents the only reported case of syrinx formation in a child with MPS VI. Clinical, neurologic and spinal magnetic resonance imaging findings are presented. The patient has maintained a stable clinical and neurologic course over the period following allogeneic bone marrow transplant.

Arnold-Chiari malformation. Report of four cases with contamination of the central nervous system by amniotic contents.

Four patients with the Arnold-Chiari malformation had massive prenatal contamination of the spinal cord and brainstem (and also of the cerebral ventricles in one case) by amniotic squamous cells and lanugo hair, which had entered through open meningomyeloceles. Amniotic contents were present in the subarachnoid space, central canal, fourth ventricle, and aqueduct and were also embedded in neural tissue, causing severe gliosis, fibrosis, and blockage. The mechanism of the complication and its implications in the prognosis of patients with the Arnold-Chiari malformation are discussed.