RESUMO
Fatal pulmonary fat embolism is a rare complication in elective orthopaedic surgery. It has been described previously as occuring during intramedullary manipulations and in trauma patients. We present the case of a 56-year-old slender housewife with severe radicular complaints because of lumbar spinal stenosis. She underwent a dorsal bilateral decompression of L4/L5 and L5/S1 in combination with an instrumented dorsolateral spinal fusion. Transpedicular fixation of L4/L5/S1 was accomplished by titanium Rodegerdts implants. Both iliac crests were used for harvesting autologous bone grafts. The intra-operative course was uneventful; however, 6 h after surgery, despite resuscitation, she expired. Autopsy revealed macroscopic gross fatty infiltration of lung parenchyma with oedema. We believe there is no relation between this complication and the transpedicular instrumentation. The position of the patient and the extent of the harvesting technique could be critical in preventing this serious complication.
Assuntos
Embolia Gordurosa/etiologia , Embolia Pulmonar/etiologia , Fusão Vertebral/efeitos adversos , Embolia Gordurosa/patologia , Desenho de Equipamento , Evolução Fatal , Feminino , Humanos , Pulmão/patologia , Pessoa de Meia-Idade , Dispositivos de Fixação Ortopédica , Embolia Pulmonar/patologia , Estenose Espinal/cirurgiaRESUMO
A large Dutch family had been known for many years to be affected with skin tumours labelled as adenoma sebaceum, which were inherited in an autosomal dominant fashion. Since this skin sign is considered pathognomonic for tuberous sclerosis complex, the condition in the family was labelled accordingly, in the absence of further clinical features of tuberous sclerosis complex-like mental retardation or epilepsy. The skin changes started at early puberty with small eruptions around the nose and progressed to larger tumours, with considerable variation in severity. Some affected members had required plastic surgical reconstruction following excision. Linkage analysis in this family was performed for the two chromosomal regions involved in tuberous sclerosis complex on chromosomes 9q34 and 16p13, but no positive linkage was found. On critical re-evaluation of the clinical and pathological data and renewed assessment, the working diagnosis was changed to autosomal dominant cylindromatosis. The recently published candidate region for cylindromatosis on chromosome 16q12-13 was subsequently proven to be positively linked with a lod score of 3.02 with marker D16S308. Review of pathological specimens confirmed the diagnosis of cylindromatosis. DNA analysis of tumour tissue showed loss of heterozygosity for the cylindromatosis CYLD1 locus. These results confirm the candidate locus for cylindromatosis on chromosome 16q12-13.
Assuntos
Adenoma/genética , Cromossomos Humanos Par 16/genética , Neoplasias Faciais/genética , Neoplasias das Glândulas Sebáceas/genética , Neoplasias Cutâneas/genética , Esclerose Tuberosa/genética , Adenoma/diagnóstico , Adenoma/patologia , Cromossomos Humanos Par 9 , Diagnóstico Diferencial , Neoplasias Faciais/diagnóstico , Neoplasias Faciais/patologia , Feminino , Ligação Genética , Haplótipos , Humanos , Perda de Heterozigosidade , Masculino , Linhagem , Neoplasias das Glândulas Sebáceas/diagnóstico , Neoplasias das Glândulas Sebáceas/patologia , Neoplasias Cutâneas/patologia , Esclerose Tuberosa/diagnósticoRESUMO
The case history of a 53-yr-old woman exhibiting the progressive appearance of several hundreds of subcutaneous leiomyomatous tumors in a 15-yr period is presented. The occurrence of multiple tumors in the gastrointestinal tract, mesentery, and retroperitoneum, necessitated several laparotomies because of pain and chronic blood loss. On light microscopy high mitotic activity, which is generally a characteristic of sarcoma, was only encountered in lesions, surgically removed a few months before death. It is argued that our patient suffered from multiple leiomyomatous tumors with progressive growth capacity, which may represent a multifocal origin rather than a metastasized sarcoma.