title: Tuberous sclerosis complex and polycystic kidney disease contiguous gene syndrome with Moyamoya disease.
abstract: Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two diseases sharing close genetic loci on chromosome 16. Due to contiguous gene syndrome, also known as contiguous gene deletion syndrome, the proximity of TSC2 and PKD1 genes increases the risk of co-deletion resulting in a shared clinical presentation. Furthermore, Moyamoya disease (MMD) is a rare vaso-occlusive disease in the circle of Willis. We present the first case of TSC2/PKD1 contiguous gene syndrome in a patient with MMD along with detailed histopathologic, radiologic, and cytogenetic analyses. We also highlight the clinical presentation and surgical complications in this case.
authors.affiliation: Department of Pathology, St. Barnabas Medical Center, 94 Old Short Hills Rd, Livingston, NJ 07039, United States.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Lai
authors.affiliation: Department of Pathology, St. Barnabas Medical Center, 94 Old Short Hills Rd, Livingston, NJ 07039, United States.
authors.forename: Lopa
authors.initials: L
authors.lastname: Modi
authors.affiliation: Department of Pathology, St. Barnabas Medical Center, 94 Old Short Hills Rd, Livingston, NJ 07039, United States. Electronic address: dramai@sgu.edu.
authors.forename: Daryl
authors.initials: D
authors.lastname: Ramai
authors.affiliation: Department of Pathology, St. Barnabas Medical Center, 94 Old Short Hills Rd, Livingston, NJ 07039, United States.
authors.forename: Matthew
authors.initials: M
authors.lastname: Tortora
mesh_terms: D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D009072:Moyamoya Disease / Q000150:complications* / Q000473:pathology*; D017044:Polycystic Kidney, Autosomal Recessive / Q000150:complications* / Q000473:pathology*; D014402:Tuberous Sclerosis / Q000150:complications* / Q000473:pathology*; D055815:Young Adult
keywords: Contiguous gene syndrome; Moyamoya disease; Polycystic kidney disease; Tuberous sclerosis complex