Manejo quirúrgico de la duplicación patelar bilateral en displasia epifisiaria múltiple recesiva. Reporte de caso / Surgical management of bilateral duplication of the patella in multiple recessive epiphyseal dysplasia. A case report

Introducción La displasia epifisiaria múltiple (DEM) es una enfermedad poco frecuente y con gran variedad clínica y se caracteriza por deformidades en las articulaciones, dolor, y trastornos de la marcha. La duplicación patelar se asocia con DEM recesiva y consiste en dos segmentos patelares escalonados separados por tejido blando entre ellos. Caso clínico Paciente masculino de 30 años con cuadro clínico de DEM recesiva con duplicación patelar, presenta dolor crónico bilateral de cadera y rodilla, y trastorno de la marcha. Tras el examen físico, se evidenció derrame articular, dificultad para la flexión de las rodillas y un cuerpo libre intra-articular bilateral. Se identificaron dos segmentos patelares, displasia acetabular y de cabeza femoral bilateral con imágenes diagnósticas. El manejo quirúrgico de la duplicación patelar fue resección de los segmentos óseos accesorios, conduciendo a un resultado clínico satisfactorio al año de seguimiento. Discusión Aunque no se realiza el diagnóstico genético de la DEM, nuestro paciente presenta las características fenotípicas y radiológicas de esta entidad. Para la duplicación patelar, se realizó la resección de las patelas accesorias, considerando el alto riesgo de no unión. Sin embargo, existen varios reportes donde unieron los dos segmentos patelares, pero principalmente en niños. Este es el primer reporte publicado sobre el manejo quirúrgico de esta patología en Colombia. La duplicación patelar puede manejarse con éxito mediante la resección de la patela accesoria en adultos. Aunque los hallazgos imagenológicos son muy sugestivos de esta patología, se requiere un adecuado examen físico para evitar un diagnóstico equivoco y tardío.

Background Multiple epiphyseal dysplasia (MED) is a rare disease with a great clinical variation, and is characterised by deformities in the joints, pain, and gait disorders. Duplication of the patella is associated with recessive MED, and consists of two staggered patellar segments separated by soft tissue between them. Clinical case A 30-years-old male patient with a clinical manifestation of recessive MED with duplication of the patella, chronic bilateral hip and knee pain, as well as gait disorder. After the physical examination, joint effusion, difficulty in flexing the knees, and a bilateral intra-articular free body were evident. Two patellar segments, acetabular dysplasia and bilateral femoral head, were identified with diagnostic imaging. The surgical management of duplication of the patella was resection of the accessory bone segments, leading to a satisfactory clinical result at one year of follow-up. Discussion Although the genetic diagnosis of the MED was not made, our patient presented with the phenotypic and radiological characteristics of this disease. For duplication of the patella, the accessory patella resection was performed, considering the high risk of non-union. However, there are several reports where the two patellar segments are joined; but mainly in children. This is the first report published about the surgical management of this pathology in Colombia. Duplication of the patella can be managed successfully by resecting accessory patella in adults. Although the imaging findings are very suggestive of this pathology, an adequate physical examination is required to avoid a false and late diagnosis.

Multiple Epiphyseal Dysplasia: Uncommon Diagnosis in a Patient with Swelling over Pinna

Multiple Epiphyseal Disorder (MED) is a congenital birth disorder presenting with abnormalities of bone and cartilage and is of two types – dominant and recessive. Nearly 50% of individuals with recessive multiple epiphyseal dysplasia (rMED) are born with at least one abnormal feature, including clubfoot, cleft palate, clinodactyly, or ear swelling. A case report of 6-year-old male child with left ear swelling and deafness is presented to highlight the need for maintaining a high index of suspicion for this disorder. A missed or delayed diagnosis of this diagnosis may lead to an erroneous treatment plan

Rótula bicapa bilateral / Rotule à double couche bilatérale / Bilateral Double-Layered Patella

Se presenta un escolar masculino de 12 años de edad, talla de 155 cm y 45 kg de peso que es traído a consulta externa de Ortopedia y Traumatología por presentar discreto aumento de volumen doloroso en ambas rodillas, profundo, en cara posterior de la rótula al movilizarla y al presionar sobre ella (en flexión y en extensión). Aumenta al subir y bajar escaleras. Signo de la butaca positivo y sensación de crepitación o chasquido. Se realizan estudios imaginológicos que conjuntamente con el cuadro clínico permiten llegar al diagnóstico(AU)

We present a 12-year-old male schoolchild, 155 cm in height and weighing 45 kg, who is brought to the outpatient clinic of Orthopedics and Traumatology for presenting a discreet increase in painful volume in both knees. His pain is deep in the posterior face of the patella, when mobilizing and pressing (in flexion and extension). It increases when going up and down stairs. The sign of the armchair is positive and there is a crackling or clicking sensation. Imaging studies and the clinical exam endorsed diagnosis(AU)

Un écolier âgé de 12 ans, avec 155 cm de taille et 45 kg de poids, vu en consultation externe d'orthopédie et traumatologie pour légère augmentation du volume des deux genoux, avec douleur profonde si mobilité ou pression (en flexion et extension) au côté postérieur de la rotule, est présenté. La douleur augmente à la montée-descente des escaliers. Le signe du cinéma est positif, et il y a aussi une sensation de crépitation ou claquement. On fait des études d'imagerie permettant, conjointement avec l'examen clinique, de faire un diagnostic(AU)

Bilateral Congenital Cataract Associated with Multiple Epiphyseal Dysplasia: A case Report.

Cataract in children has varied etiology. It may be associated with systemic diseases including skeletal dysplasias. However cataract in Multiple Epiphyseal Dysplasia is a rare association. A child presented with bilateral dense posterior sub capsular cataract and multiple bony abnormalities. Clinical and radiographic findings suggested the disease to be Multiple Epiphyseal Dysplasia. The aim of presenting this case is to report a case of congenital cataract having a rare association with the Multipe Epiphyseal Dyspalsia.

A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia

Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of?12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.

Four Cases of Multiple Epiphyseal Dysplasia in One Family / 대한정형외과학회잡지

The clinical entity of Dysplasia Epiphyseal Multiplex was first descrihed by Fairbank in 1935, characterized by the disturbance of endochondral ossification in hoth epiphyseal centers and regions of physeal growth. It manifests itself radiologically as late appearance and mottling of the ossification centers and clinically as short stature, stubby digits and painful stiffness of multiple joints. It is typically transmitted as an autosomal dominant trait though recessive forms have been described. The spine is normal apart from a mild increased lumbar lordosis. Many patients are referred to an orthopaedic surgeon for bilateral Perthes disease, as was one of the authors cases. This Paper reports four cases of multiple epiphyseal dysplasia which affected one family.