RESUMO
No disponible
Assuntos
Humanos , Masculino , Feminino , Criança , Oftalmologia/classificação , Hamartoma/complicações , Hamartoma/diagnóstico , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Esclerose Tuberosa/metabolismo , Neurofibromatose 1/complicações , Neurofibromatose 1/metabolismo , Tomografia , Oftalmologia/instrumentação , Hamartoma/genética , Hamartoma/prevenção & controle , Esclerose Tuberosa/complicações , Neurofibromatose 1 , Tomografia/instrumentaçãoRESUMO
No disponible
Assuntos
Humanos , Masculino , Feminino , Hamartoma/complicações , Hamartoma/diagnóstico , Hamartoma/mortalidade , Hamartoma/prevenção & controle , Hamartoma/cirurgia , Hamartoma/terapiaRESUMO
No disponible
Assuntos
Humanos , Masculino , Feminino , Gravidez , Recém-Nascido , Lactente , Hamartoma/congênito , Hamartoma/complicações , Hamartoma/diagnóstico , Hamartoma/mortalidade , Hamartoma/prevenção & controle , Hamartoma/terapia , Hamartoma/patologia , Deformidades Congênitas do Pé , Relatos de Casos , Anormalidades Congênitas , Doenças Genéticas InatasRESUMO
BACKGROUND: Mazabraud's syndrome was first described, by Mazabraud et al. as a rare disease, associated with single or multiple intramuscular myxomas with monostotic or polyostotic forms of fibrous dyplasia, PURPOSE: Reports of this syndrome is rare and usually associated with myoxomatas. The authors would want to report the occurrence of this rare case associated with a hamartoma as basis for record and future studies. METHOD: An adult male came to the institution 4 years ago complaining of a right unilateral proptosis that he had since childhood. However, proptosis progressed in a month's time accompanied by right eye redness. Right eye was congested with a palpable firm mass on the right lower lid. Best corrected visual acuity was 6/15-2. Pupillary examination revealed the presence of RAPD on the right eye. Exophthalmometry revealed a 10 mm proptosis. EOMS were restricted on the right eye and diplopia was noted in all gazes. Ishihara test showed 14/15 for the right eye. CT SCAN and MRI confirmed a mild inflammatory extraconal or intramuscular mass in the right obito-retrobulbar region. Bony changes seen in the right zygoma, sphenoid bone and squamous part of the temporal bone with extensive bone mineralization. The patient underwent a right lateral orbitotomy with biopsy and debulking of the inferior orbital mass. Histopathology revealed a hamartomatous lesion. CONCLUSION: Due to the associated soft tissue lesion with multiple craniofacial bone changes, this case may be considered a variant of Mazabraud's Syndrome. The associated hamatomatous lesion may be a rare occurrence that should be noted.