Presentation
Followed-up for several years in multidisciplinary vascular anomalies clinic. Many prior problems including meningitis from CSF leak due to skull base involvement and pathological fractures.
Patient Data
Sagittal whole-spine MRI images (T2 from a slightly later examination, with new C4 compression fracture) show extensive nearly diffuse involvement of spine and skull base with signal anomalies, with both concordant and discordant areas of very high T2 and high T1WI signal and discordant STIR. Bone-within-a-bone sign with apparent doubling of the vertebral body endplate hypointensity. Odontoid and clivus are expanded.
Extensive multifocal high STIR signal lesions in the pelvis, left femur and soft tissues of the distal right thigh. Internal fixation artifacts in the right hip.
Annotated image shows in red how the abnormal vertebral body signal has both T1 hyperintensity with high and low T2 signal and low STIR, whereas in blue the vertebrae are low T1, high T2 and high STIR.
Selected thoracic sagittal bone window shows bone-within-a-bone anomaly and decreased bone density.
Selected coronal image shows many splenic microcysts and right pleural effusion.
Case Discussion
Findings such as these, with extensive bony involvement that is both high and low signal on T2 and T1WI (sometimes discordant) with mostly preserved cortex is highly suggestive of generalized lymphatic anomaly. Mutations are most often found in the PIK3CA gene, though 3 attempts at bone biopsy in this patient failed to demonstrate a genetic mutation. Symptoms stabilized on sirolimus treatment.