RESUMEN
A child with acute pre-B cell lymphoblastic leukemia underwent haploidentical bone marrow transplantation (BMT) after first relapse. Approximately 8 months after the BMT, he developed a soft tissue mass overlying a defect in the left frontal bone. He was found to have several additional osteolytic lesions but no evidence of lymphadenopathy or organomegaly. A biopsy of the presenting lesion demonstrated a polymorphous infiltrate composed predominantly of S-100 protein and CD68 immunoreactive histiocytic cells. Together with the presence of emperipolesis, the process was interpreted as Rosai-Dorfman (R-D) disease. He received chemotherapy with vinblastine, prednisone, 6-mercaptopurine and methotrexate and has been in remission for over 4 years. Only one previous example of acute lymphoblastic leukemia in childhood has been reported with R-D disease.
Asunto(s)
Trasplante de Médula Ósea/efectos adversos , Enfermedad Injerto contra Huésped/etiología , Histiocitosis Sinusal/etiología , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicaciones , Adolescente , Antígenos CD , Antígenos de Diferenciación Mielomonocítica , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Resultado Fatal , Histiocitos , Humanos , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Inducción de Remisión , Proteínas S100Asunto(s)
Neoplasias Óseas/diagnóstico , Neoplasias Óseas/patología , Condroblastoma/diagnóstico , Condroblastoma/patología , Adolescente , Neoplasias Óseas/diagnóstico por imagen , Condroblastoma/diagnóstico por imagen , Epífisis/patología , Humanos , Inmunohistoquímica , Masculino , Radiografía , Rayos XRESUMEN
A 15-year-old black male presented with shortness of breath, leg weakness, and pain in his back and rib cage. Four years previously he had noticed a lump in his upper back and complained of pain when playing basketball, especially on contact to that area. Recently, the pain had become more constant and increased in intensity. This was associated with loss of control in his legs, weakness, and paraesthesia. General physical examination revealed a palpable mass in the right midline upper back. Laboratory results were within normal limits. Radiographic scans demonstrated a destructive soft tissue mass at T6 vertebral body with scattered stippled calcification (Figure 1). The patient underwent a biopsy followed by excision of the mass (Figure 2) and decompressive laminectomy with reconstruction.
Asunto(s)
Neoplasias Óseas/patología , Osteosarcoma/patología , Sarcoma de Células Pequeñas/patología , Adolescente , Neoplasias Óseas/diagnóstico por imagen , Humanos , Masculino , Osteosarcoma/diagnóstico por imagen , Sarcoma de Células Pequeñas/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
Ultrasonography at 23 weeks of gestation documented the presence of megacystis with horseshoe kidney, microcolon, intestinal malrotation, and decreased amniotic fluid volume. After pregnancy termination, an autopsy was performed. The external phenotype was diagnostic of the trisomy 18 syndrome confirmed by chromosome examination. The fetus also had a massively distended bladder with parchment-thin wall, microcolon, intestinal malrotation but no urethral obstruction or hydronephrosis. No ganglion cells were present in the colon or bladder. This has not been mentioned in other reported cases and, therefore, suggests pathogenic heterogeneity. The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare autosomal recessive condition of unknown pathogenesis whose genes map to 15q24. Thus, its previously undescribed presence in trisomy 18 further suggests etiologic heterogeneity.
