Background:
Frosted branch angiitis (FBA) is a rare phenomenon of panuveitis which may occur secondary to cytomegalovirus (CMV) causing acute visual disturbances. CMV infection is a known complication in allogenic stem cell transplant (SCT) patients but is uncommon following autologous SCT.
Observation:
We describe a 17-month-old medulloblastoma patient with sudden onset visual impairment following second autologous SCT. The patient was CMV seropositive, polymerase chain reaction negative before second SCT. At the time of presentation with visual complaints, the patient was diagnosed with FBA associated with CMV reactivation. Treatment included antivirals and immunosuppressive medication with visual recovery.
Conclusion:
FBA induced by CMV should be considered as a differential diagnosis in pediatric patients undergoing autologous bone marrow transplant with rapidly progressive visual impairment.
Hereditary protein S (PS) deficiency is a rare autosomal dominant disorder with increased risk of venous thromboembolism. The PS Heerlen polymorphism at codon 501 of the PROS1 gene is considered a variant of uncertain significance. It has since been shown that PS Heerlen has a reduced half-life, resulting in reduced levels of free PS. We report a case of an adolescent female with May Thurner syndrome and heterozygous PS Heerlen mutation resulting in a mild PS deficiency and venous thromboembolism. With this nonmodifiable risk factor, the patient received prolonged anticoagulation with strong consideration for lifelong prophylaxis.
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