ABSTRACT
No disponible
Subject(s)
Humans , Male , Female , Child , Ophthalmology/classification , Hamartoma/complications , Hamartoma/diagnosis , Tuberous Sclerosis/diagnosis , Tuberous Sclerosis/genetics , Tuberous Sclerosis/metabolism , Neurofibromatosis 1/complications , Neurofibromatosis 1/metabolism , Tomography , Ophthalmology/instrumentation , Hamartoma/genetics , Hamartoma/prevention & control , Tuberous Sclerosis/complications , Neurofibromatosis 1 , Tomography/instrumentationABSTRACT
No disponible
Subject(s)
Humans , Male , Female , Hamartoma/complications , Hamartoma/diagnosis , Hamartoma/mortality , Hamartoma/prevention & control , Hamartoma/surgery , Hamartoma/therapyABSTRACT
No disponible
Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Infant , Hamartoma/congenital , Hamartoma/complications , Hamartoma/diagnosis , Hamartoma/mortality , Hamartoma/prevention & control , Hamartoma/therapy , Hamartoma/pathology , Foot Deformities, Congenital , Case Reports , Congenital Abnormalities , Genetic Diseases, InbornABSTRACT
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.
