RESUMEN
Non-mosaic trisomy 16 is rarely seen in later gestation. Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear. The pregnancy ended in severe placental abruption and resultant fetal demise, and maternal hypovolemic shock at 35 weeks of gestation. Only 3 non-mosaic trisomy 16 fetuses, including this case, have been reported to survive into the second or third trimester. Furthermore, this fetus would be the first case of complete trisomy 16 manifesting as asplenia syndrome.
Asunto(s)
Desprendimiento Prematuro de la Placenta/genética , Síndrome de Heterotaxia/genética , Trisomía/genética , Desprendimiento Prematuro de la Placenta/diagnóstico , Adulto , Cromosomas Humanos Par 16/genética , Femenino , Feto/anomalías , Síndrome de Heterotaxia/diagnóstico , Humanos , Mosaicismo , Embarazo , Resultado del Embarazo/genética , Choque/diagnóstico , Choque/genéticaRESUMEN
We report a 75-year-old man with two spinal tumors, primary epidural lymphoma and metastatic carcinoma of the prostate, which caused thoracic spinal cord compression, with a long symptom free interval between episodes. The patient presented with back pain and progressive weakness and numbness in his lower limbs for 3 months. Eleven years earlier, he had a symptomatic T8-10 primary spinal epidural lymphoma that was treated successfully with surgery and he made a full recovery. Magnetic resonance imaging of the thoracic and lumbar spines revealed multiple thoracic and lumbar vertebral osteolytic lesions. Extraosseous extension of a lesion at T1-4 resulted in severe spinal cord compression. In consideration of recurrent lymphoma, emergent cord decompression was achieved via posterior T1-4 decompressive laminectomy, and the patient's neurological status improved rapidly after surgery. Pathological examination confirmed metastatic carcinoma of the prostate. After several courses of chemotherapy, the patient improved neurologically and could walk independently. Three years after surgery, magnetic resonance imaging showed complete resolution of cord edema at T1-4 and T8-9, and the high signal intensity at unoperated levels largely regressed. This report emphasizes that other newly developed lesions should be included in the differentiation of recurrent primary spinal epidural lymphoma, especially in patients who have long-term, disease-free intervals between episodes.
