RESUMO
This case describes the novel coexistence of sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and bilateral type I Duane syndrome in a female infant, with a FOXL2 mutation. Mutational analysis of FOXL2 demonstrated a 30-nucleotide duplication (c.672(-)701dup30) within the polyalanine tract of FOXL2. The association of BPES and Duane syndrome represents a novel phenotype which may suggest a greater pleiotropic effect of FOXL2 in development. During the period of the 4-8th week of embryonic development, the cranial nerves, their nuclei and the corresponding innervation to the extraocular muscles develop, the extraocular muscles undergo development and differentiation. This coincides with the period of time that FOXL2 is expressed strongly in the developing eyelids and the surrounding tissues. Forkhead genes are transcription factors and likely to be involved in signal transduction pathways. This case expands the spectrum of FOXL2 mutations associated with BPES.
Assuntos
Blefarofimose/genética , Síndrome da Retração Ocular/genética , Fatores de Transcrição Forkhead/genética , Mutação/genética , Fenótipo , Sequência de Bases , Blefarofimose/patologia , Análise Mutacional de DNA , Síndrome da Retração Ocular/patologia , Feminino , Proteína Forkhead Box L2 , Humanos , LactenteRESUMO
BACKGROUND: Exposure and minor complications of hydroxyapatite orbital implants are common. Infection appears to be rare and fibrovascular ingrowth into hydroxyapatite implants may make infection and extrusion less likely than with other types of orbital implant. METHODS: We describe three cases of chronic low-grade infection of hydroxyapatite implants, occurring late after apparently uncomplicated surgery, with tiny or inapparent areas of conjunctival loss or exposure. RESULTS: Two of the three cases grew Staphylococcus oureus on culture. All three implants ultimately needed to be removed. A characteristic histological pattern was seen, with abrupt transition between vascularized and abscessed implant. CONCLUSIONS: Chronic infection of hydroxyapatite implants can occur late, in the absence of large conjunctival defects, or other obvious risk factors. While exposure of the implant to pathogens through a breach in the conjunctiva may have been a factor, it appeared that the infection may have arisen in an avascular portion of the implant prior to the conjunctival breakdown in one or more of these cases.
