Moyamoya Syndrome in Post-Transplant Children with Type 1 Neurofibromatosis and Congenital Nephrotic Syndrome

Abstract

Background: Neurofibromatosis (NF) is a genetic disorder of the nervous system that affects the development and growth of neuronal tissues. It is characterized by the development of malignant and benign tumors of the peripheral nerves and meningiomas, and the clinical manifestations can vary, including cerebral vascular compromise that precipitates symptoms characteristic of Moyamoya syndrome. The behavior of a posttransplant child with type 1 NF who presents with characteristics of Moyamoya syndrome and is a carrier of a WT1 genetic mutation is unknown, which is why the report was made. Case Report: A child with type I NF with a history of cryptorchidism, hypospadias, bilateral sensorineural hearing loss, and chronic renal failure was arising from a congenital nephrotic syndrome due to a WT1 gene mutation at 3 years of age began renal replacement therapy initially with chronic ambulatory peritoneal dialysis and hemodialysis for refractory peritonitis. He underwent two episodes of transient ischemic attack (TIA) characterized by right hemiparesis during hemodialysis therapy and during six months post-kidney transplantation present a similar episode. Studies for other causes were negative, and imaging studies show characteristics of NF-related vasculitis, cortical lesions, and focal lesions in the left frontal subcortical white matter with annular enhancement and subcortical edema in the parasagittal region of the left parietal lobe, as well as a decrease in flow in the cortical branches of the middle cerebral artery were described. After four weeks, the clinical manifestations of hemiparesis completely disappeared without leaving any sequels continuing with the regular immunosuppression of the everolimus, mycophenolate and low dose steroids. Conclusion: These findings are suggestive of small and mediumsized vessel vasculitis compatible with Moyamoya syndrome in child post-transplantation associated with arteriopathy by NF.