Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
Presentation
Known diagnosis of hereditary hemorrhagic telangiectasia, s/p coil embolization of pulmonary AVM (in left lower lobe). The patient was admitted for trauma evaluation after falling from a bike.
Patient Data
Right acetabular fracture- anterior column, without displacement.
Right upper thigh/gluteal subcutaneous hematoma.
The patient was treated conservatively with a recommendation for partial weight-bearing on his right leg. Several days after his discharge, the patient presented with left-hand weakness and facial asymmetry.
On the background of the right lateral parieto-temporal old infarct area, subtle areas of grey -white matter hypodensity with sulcal effacement are shown in the right insular cortex and in areas adjacent to the old infarct. These findings, combined with patient clinical presentation, raised a possibility of acute/subacute infarct.
Old lacunar infarcts in the left cerebellar hemisphere.
No acute hemorrhage.
Head an d Neck CTA
Normal CTA examination without evidence of large vessel occlusion.
No evidence of brain AVM.
Platelet aggregation inhibitors were considered, but due to the patient history of severe epistaxis (due to hereditary hemorrhagic telangiectasia), the treatment was deferred.
MRI examination was requested for further evaluation.
Right parieto-temporal, insular, and occipital areas of restricted cortical diffusion in DWI, with a corresponding bright signal in T2 and FLAIR sequences. The findings are consistent with subacute infarctions.
A short time after the patient had returned to the ward from MRI examination, he began complaining of shortness of breath. The patient had tachycardia and elevated D-Dimer on blood examination.
Pulmonary CTA was requested for further evaluation.
Extensive bilateral pulmonary emboli.
AVMs in RML and LLL.
One of the AVMs in LLL underwent coil embolization.
Due to patient contraindication to anticoagulation, he underwent IVC filter insertion.
Several days later the patient developed a severe respiratory failure that required invasive ventilation, with further development of multiorgan failure.
The patient was referred to chest and abdomen CT for further evaluation.
Chest and abdomen CT
Bilateral pulmonary emboli, without significant change.
IVC filled with large thromboembolic material below the IVC filter.
Signs of systemic hypoperfusion:
- IVC collapse above the level of the IVC filter.
- Heterogenous liver enhancement on arterial and portal phases (especially prominent at segments 2,3, 6,7,8).
- Small bowel loops dilatation with diminished bowel wall enhancement.
Case Discussion
This case presents a catastrophic cascade of events, in a patient diagnosed with hereditary hemorrhagic telangiectasia. The patient presented with embolic events to the brain and lungs, probably as a result of deep vein thrombosis that developed as a sequela of immobility after acetabular fracture. The presence of lung AVMs creates a right to left shunt that allows paradoxical emboli to the brain circulation.
The clinical management was difficult due to the patient's contraindication for anticoagulation, based on his history of massive epistaxis. Unfortunately, the patient died during his hospitalization.
Unable to process the form. Check for errors and try again.