title: Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1.
abstract: Patients with constitutional mismatch repair-deficiency (CMMR-D) caused by the biallelic deletions of mismatch repair (MMR) genes have a high likelihood of developing malignancies of the bone marrow, bowel, and brain. Affected individuals often have phenotypic features of neurofibromatosis type 1 (NF-1), including café-au-lait spots. Optic pathway gliomas (OPGs), a common manifestation of NF-1, have not been reported. We report the case of a 3-year-old male with an extensive OPG who met the diagnostic criteria for NF-1. He was subsequently found to have multiple colonic polyps and bi-allelic loss of PMS2. Testing for NF-1 was negative.
authors: Doris Duke Clinical Research Fellowship, Department of Neurosurgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
authors: Jacky T
authors: JT
authors: Yeung
authors: Ian F
authors: IF
authors: Pollack
authors: Sapana
authors: S
authors: Shah
authors: Ronald
authors: R
authors: Jaffe
authors: Marina
authors: M
authors: Nikiforova
authors: Regina I
authors: RI
authors: Jakacki
mesh_terms: D002675:Child, Preschool; D053843:DNA Mismatch Repair / Q000235:genetics*; D049914:DNA Repair-Deficiency Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*; D020339:Optic Nerve Glioma / Q000235:genetics*