Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1.
Pediatr Blood Cancer
; 60(1): 137-9, 2013 Jan.
Article
em En
| MEDLINE
| ID: mdl-22848017
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neurofibromatose 1
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Glioma do Nervo Óptico
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Distúrbios no Reparo do DNA
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Reparo de Erro de Pareamento de DNA
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Blood Cancer
Ano de publicação:
2013
Tipo de documento:
Article