ABSTRACT
Se presenta el caso clínico de un niño de 1 año y 6 meses, atendido en el Hospital Nacional de Niños, por dificultad para deambular, que presentaba datos radiológicos de sobrecrecimiento osteocondral epifisiario de tibia proximal y distal, astrágalo y primer metatarsiano del miembro inferior izquierdo, y se diagnostica displasia epifisiaria hemimelia. La displasia epifisiaria hemimélica o enfermedad de Trevor, es un defecto osteocartilaginoso, no hereditario. Dicha condición afecta las epífisis y centros de osificación, y se observa principalmente a nivel de las extremidades inferiores. La prevalencia global es de uno en un millón y su etiología es desconocida. Es tres veces más común en varones que en mujeres. El diagnóstico es radiológico y el manejo puede ser conservador o quirúrgico.
We describe the clinical case of an 18-month old boy, evaluated at the National Childrens Hospital for difficulties in gait, with radiological findings of osteochondral overgrowth of the epiphysis of the proximal and distal tibia, astragalus and first metatarsal bone of the left leg. The patient was diagnosed with epiphyseal dysplasia hemimelica. Epiphyseal dysplasia hemimelica or Trevor´s disease is a non-hereditary osteo-cartilaginous defect. It affects the epiphysis and ossification centers, occurring predominantly in the lower limbs. Global prevalence is one in a million and its etiology is unknown. It is three times more common in boys than girls. Diagnosis is made through radiologic studies. Management options include clinical observation or surgery.
Subject(s)
Humans , Male , Child , Cartilage , Epiphyses , Lower Extremity , SkeletonABSTRACT
Dysplasia epiphysealis hemimelica is a rare benign disease (incidence 1:1,000,000), characterized by an osteochondral overgrowth affecting one or more epiphyses. Generally, the age of onset is between two and 14 years. The characteristic imaging findings are sufficient for the diagnosis. Surgical excision of the lesion is only indicated in cases where a functional limitation is present.
A displasia epifisária hemimélica é uma doença benigna rara (incidência de 1:1.000.000), caracterizada por um crescimento osteocondral decorrente de uma ou mais epífises. Em geral a idade de início é entre 2 e 14 anos. Os achados característicos dos exames de imagem são suficientes para o diagnóstico. A excisão cirúrgica da lesão só é indicada caso haja limitação funcional.
Subject(s)
Humans , Male , Child, Preschool , Epiphyses/physiopathology , Knee/physiopathology , Knee , Osteochondrodysplasias/surgery , Osteochondrodysplasias/diagnosis , Tomography, X-Ray ComputedABSTRACT
Dysplasia epiphysealis hemimelica (DEH), known as Trevor's disease, tarsoepiphyseal aclasis or la tarsomegalie, is a rare disease characterized by cartilaginous overgrowth of one-half of a single limb. Until now only three cases have been reported in Korea. The ages at initial diagnosis were 2.3 years, 2.5 years and 11.5 years, and patients were two boys and one girl by sex. The chief complaints were genu valgum (2 cases) and valgus of the foot (1 case). Plain radiographs showed bony overgrowth and asymmetrical ossification centers in all cases. MRI showed a definite cartilaginous or osteocartilaginous lesion (T1-weighted: intermediate signal intensity (SI) and T2-weighted: intermediate SI mixed inner high SI). Arthroscopic removal of the loose body was performed in one case and spontaneous regression of the genu valgum was noted in one case. We report upon three additional cases and review the literature.