A operação de Sofield e Millar no tratamento da osteogênese imperfeita

Abstract

ARTIGO ORIGINAL / ORIGINAL ARTICLE RESUMOA osteogênese imperfeita é uma doença genética causada por um defeito do colágeno do tipo I. Os portadores caracterizam-se pela baixa estatura, escleras azuladas, deformidades esqueléticas e fragilidade óssea. Os autores analisam os resultados da operação de Sofield e Millar que foi realizada em 23 ossos acometidos em oito portadores de osteogênese imperfeita com deformidades e antecedentes de múltiplas fraturas. Após um seguimento médio de dez anos e dois meses, onze ossos não precisaram ser reoperados; doze ossos, no entanto, apresentaram 21 complicações pós-cirúrgicas sendo: dez migrações das hastes intra-medulares, seis refraturas, três recidivas da deformidade e duas pseudartroses. Não houve caso de infecção ou lesão neurovascular. A reoperação, quando necessária, ocorreu após um tempo médio de três anos e seis meses. Todos os pacientes melhoraram ou mantiveram a capacidade de deambulação logo após a cirurgia; porém, com o tempo, dois deles, portadores de formas mais graves da doença, deterioraram sua capacidade de deambulação tornando-se não deambuladores. Os autores concluem que a operação torna possível a correção das deformidades e previne temporariamente a sua recidiva, além de tornar as fraturas menos freqüentes. No entanto, devido ao crescimento esquelético e a indistensibilidade das hastes intramedulares utilizadas, as complicações ocorrem.Descritores: Osteogênese imperfeita; Marcha; Osteotomia SUMMARYOsteogenesis imperfecta is a genetic disease caused by defects in the synthesis of type I collagen; clinical characteristics are short stature, blue or gray sclera, skeletal deformities and bone fragility. We analyzed eight cases of osteogenesis imperfecta with deformities and history of many fractures, for that the Sofield and Millar surgery was performed in 23 bones. After a mean follow up period of ten years and two months, 11 bones did not need revision, twelve bones had 21 complication that needed revision, ten by rod migration, six by refracture, three by new deformities and two by nonunion. There were no cases of infection or neurovascular lesion. This surgery was able to correct deformities, make fracture less frequent and prevent new deformities; revisions were necessary three years and two months after the primary surgery. All patients maintained or improved their ability to walk right after surgery; during the follow up, two patients, in which the disease was more severe, had their walking ability decreased and are non ambulatory now. INTRODUÇÃOA osteogênese imperfeita (OI) é uma doença genética causada por um defeito qualitativo e quantitativo na síntese do colágeno do tipo I. Incide em aproximadamente 1:20000 nascimentos, não havendo prevalência racial ou étnica (17,18) .O quadro clínico é de grande variabilidade, sendo que os indivíduos acometidos, de forma geral, apresentam baixa estatura, osteopenia, múltiplas fraturas e deformidades ósseas progressivas. Características adicionais são: escleras azuis ou acinzentadas, dentinogênese imperfeita, fr...

Treatment of Osteogenesis Imperfecta Using the Fassier-Duval Telescopic Rod

“…(Figure 4) In Brazil, a telescopic intramedullary rod was developed by our team in 2000. Its creation was based on the principles of previous rods [7][8][9][10][11][12] , but now aiming at joint preservation as well as the Fassier-Duval rods' features. It was centrally attached into the distal epiphysis through its internal rod by means of a thread, and the trochanteric stabilization was achieved by the external rod through transosseous suturing of the greater trochanter.…”

“…3 For its surgical treatment, the use of telescopic intramedullary rods is recommended as the gold standard. [4][5][6][7][8][9][10][11][12] The objective of this study was to assess the effectiveness of the Fassier-Duval (FD) rod by conducting a retrospective analysis of patients with Osteogenesis Imperfecta operated by our team.…”

Effects of a telescopic intramedullary rod for treating patients with osteogenesis imperfecta of the femur

“…The complications observed in our patients are consistent with those reported in the literature; fracture and migration are complications inherent to the disease's evolution and the use of rods. 4,6,10,12,14,25,28,29,31,[36][37][38][39][40][41] The role of the fracture, as the main complication, is more evident if only rods monitored for more than ten years are analyzed. We agree with Azzam et al 31 who reported that non-surgical patients have a higher fracture rate.…”

“…Initially, OI must be clinically treated using bisphosphonates to increase bone resistance and mineral density [17][18][19][20][21][22][23][24] . In moderate and severe cases where children present with excessive fractures or deformities, surgical treatment using intramedullary rods is recommended 3,10,[25][26][27] ,which aids in correcting these problems and facilitates the possibility of walking in severely affected patients, thus improving their quality of life 2,6,10,13,[27][28][29][30][31] . Telescopic rods have evident advantages, as they require fewer surgical interventions in response to children's growth compared with non-telescopic rods because of their ability to adapt to bone growth, serve as an internal template and prevent deformities 3,9,[32][33][34][35] .…”

“…The technique corrects long bone deformities through multiple osteotomies, sub-dividing the bone into several fragments and subsequently fixing it by inserting a fixed-size rigid rod. The main limitation of this technique is that the rod cannot follow bone development, thus, affected children require several re-interventions throughout their development [2][3][4][5][6] . To circumvent this issue, Baley and Dubow created a two-component rod that enabled telescopic modification 3,[7][8][9][10][11] .…”