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Caso del mes de Agosto_12

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Diagnostico Visual

  Niña de 7 años 7 meses de edad, producto de  embarazo de alto riesgo, madre añosa. Nace por cesárea, peso adecuado para su edad gestacional, sin ningún problema neonatal, seno materno 8 meses, desarrollo psicomotor normal, El padecimiento actual de 8 meses de evolución con dolor en extremidades inferiores, de predominio matutino, desde hace 3 meses nota la mama aumento de volumen en el miembro pélvico izquierdo a nivel de tercio inferior externo de la tibia, asi como tercio superior interno de la tibia derecha. Tiene a la EF  Genu Valgo. Fue tratada dos años con zapatos ortopédicos por pie plano.

Se le envíaa a tercer nivel de atención. 

Ver radiografías

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¿Cual es tu diagnostico?

Resultados de la encuesta del Diagnóstico por la audiencia
Sarcoma de Ewing                 13%
Sarcoma osteogénico           18.9% 
Quiste Oseo                           16% 
Exostosis Múltiple Familiar 46% 
Osteomielitis                           0%
Granuloma Eosinofilico       5.7%

Analisis del caso
 
Tumoración de miembros inferiores

 

Los tumores de hueso de extremidades inferiores son una prioridad en el diagnóstico y el manejo usualmente se acompañan solo de dolor en extremidades y aumento de volumen

Dentro del Diagnostico diferencial incluyen enfermedades como dolor de crecimiento, pero al existir aumento de volumen, la situación cambia y se debe pensar en aumento de volumen de origen tumoral.

En un estudio  Goud, estudia  320 pacientes con exostosis múltiple familiar mediante encuesta de los que solamente quedan 288 de los cuales  son 184 adultos y 99 niños. Una de la molestias mas importantes era el dolor seguido de la función (dos problemas uno social y el otro funcional )  28% de los adultos cambio de trabajo y el 22% sufrió ajuste en su trabajo por la función. 13 adultos no eran aptos para trabajar. De los niños 53%  tenían problemas en la escuela. El principal problema era su participación en actividades deportivas. Y Dolor reciente en 63% de niños, 1-5 de puede malignizar en condrosarcoma en la vida de adulto. (1)

 

 

Pacientes con exostosis múltiple hereditaria deben ser evaluados radiológicamente por la posibilidad de involucro de canal medular alrededor de los pacientes pueden tener esta localización de lesiones. (3)

 

El tumor cartilaginoso es la neoplasia  más frecuente en hueso. El  osteocondroma es la lesión  cartilaginosa benigna más común. Es autosómica dominante y ocurre en 1/ 50,000. El sitio más común es en la región metafisiaria de los huesos largos cerca de la placa de crecimiento. Puede ser solitaria o múltiple. Puede causar deformidades óseas y alteraciones del crecimiento. Hay una hormona “hedgehog” que regula el crecimiento y diferenciación de los condrocitos dentro de la placa de crecimiento. Hay un gen Ext  similar al Ttv de drosofila que medias las señales del “hedgehod” regulando su expresión. Por lo tanto un inhibidor de la proteínas hedgehod (Ihh-PTHrP) [Indian Hedgehod-paratiroid hormon related protein] podría regular el volumen de neoplasias  de origen cartilaginoso aunque estas substancias estan en investigación una de ellas es la Ciclopamina  un derivado de un  planta Veratrum Californicum. (4 Alman))

 

Osteocondromas múltiples, estas lesiones ocurren en una prevalencia de 1/50,000 usualmente en varones mas que en mujeres 1.5:1  usualmente en la primera década de la vida y cesa de crecer cuando los jóvenes dejan de crecer,  con varias lesiones usualmente 15-18, en huesos largos mayormente en rodilla, usualmente son asintomáticos. (5 Bovée)

 

Pacientes con dolor óseo o fractura son sometidos a  estudio radiográfico, los tumores óseos ocupan el  6ª lugar en la neoplasia en edad pediátrica  y ocupa el 6º lugar entre las tumores malignos en niños y el 60% de  los tumores óseos ocurre antes de los 45ª  en edades que oscilan entre los 15 y 19ª . Los datos clínicos más comunes de tumoración ósea es aumento de volumen, dolor , impotencia funcional, disminución del rango de movimiento, un 5-10% presenta fractura patológica. Entre las lesiones mas comunes benignas: osteocondroma, endrocondroma, condroblastoma, osteoblastoma,  osteoma osteoide. Malignas:  osteosarcoma, sarcoma de Ewing, condrosarcoma, histiocitoma maligno fibroso, adamantrinoma. No neoplásicos: granuloma eosinofilo, quiste óseo , quiste óseo aneurismal, displasia fibrosa,  síndromes histiocitosis de la infancia, osteomielitis. La mayoría de las lesiones son metafisiarias, en la segunda década de la vida, las metástasis más comunes son en pulmón,  deben solicitarse estudios de imagen para valorar la magnitud de la lesión. Debe salvarse la extremidad lo más posible (6 Gereige R)

 

 

 

 

1.       A.L. Goud, De Lange J; Scholtes V.A.B;  Bulstra S.K; Ham S.J. Pain, Physical and Social Functioning, and Quality of Life in Individuals with Multiple Hereditary Exostoses in the Netherlands. J Bone Joint Surg Am. 2012;94:1013-20

 

2.       Approach to Acute Limb Pain in Childhood.  Tse Sh; Laxer R.M. Pediatrics in Review 2006;27;170

 

3.       Roach W.J; Klatt J.W.B; Faulkner N.D.. Involvement of the Spine in Patients with Multiple Hereditary Exostoses. J Bone Joint Surg Am. 2009;91:1942-8 

 

4.       Alman B.A. Multiple Hereditary Exostosis and Hedgehog Signaling: Implications for Novel Therapies. J Bone Joint Surg Am. 2009;91 Suppl 4:63-7

 

5.       Judith VMG Bovée. Multiple osteochondromas. Orphanet Journal of Rare Diseases 2008, 3:3

 

Gereige R; Kumar M. Bone Lesions: Benign and Malignant. Pediatrics in Review Vol.31 No.9 September 2010 355-363

Colaboración del Dr. Angel Dueñas Avilus  
Dr Enrique Mendoza López