Astrocytic hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibromatosis type 2.
Ophthalmic Genet
; 31(4): 209-14, 2010 Dec.
Article
em En
| MEDLINE
| ID: mdl-21067482
ABSTRACT
Neurofibromatosis type 2 (NF2) is a heritable syndrome characterized by multifocal proliferation of neural crest-derived cells. The characteristic and diagnostic finding of NF2 is bilateral vestibular nerve schwannomas (acoustic neuromas). In addition to other tumors involving the central and peripheral nervous systems, ophthalmic manifestations, including posterior subcapsular and peripheral cortical cataracts, optic nerve meningiomas, epiretinal membrane, and combined pigment epithelial and retinal hamartomas, are common to NF2. Herein we present an 8-year-old girl with NF2 and astrocytic hamartoma of the optic disc. This patient had been previously diagnosed with NF1 on the basis of multiple CAL macules and suspected subcutaneous neurofibromas. However, neuroimaging revealed bilateral acoustic neuromas, leading to a clinical diagnosis of NF2. Subsequent molecular genetic analysis confirmed the NF2 diagnosis. Multiple CAL macules and astrocytic hamartomas, while associated with NF1, are rarely associated with NF2. Specifically, we are not aware of any reported cases of optic disc astrocytic hamartoma in the setting of NF2.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Disco Óptico
/
Doenças do Nervo Óptico
/
Astrócitos
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Neurofibromatose 2
/
Hamartoma
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Ophthalmic Genet
Ano de publicação:
2010
Tipo de documento:
Article