RESUMO
Diastematomyelia consists in dividing into two hemi spinal cord cords symmetric and asymmetric in the presence of a bone spur. Malformation is more common in women, and this paper presents the case of a patient with this rare spinal dysmorphism, in terms of imaging, MRI is the only method of exploration that can establish the diagnosis and also can highlight and malformations associated.
RESUMO
Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant genetic transmitted disease, with a rare incidence (1-2 cases/million persons) and it usually affects female patients. Its manifestations include acute pain episodes that tend to repeat, involving the soft tissue and the axial muscles with later appearance of ectopic bone tissue in ligaments, joints and tendons. In the great majority of times, the skeletal modifications are observed at birth but the first clinical symptoms occur at 2-4 years old. The clinical symptoms include pain and inflammation of the soft tissue, sometimes associated with fever and cutaneous erythema, joint symptoms--pain, stiffness most frequently concerning the scapular and pelvic girdle, bone malformations--short hallux, microdactilia, kyphoscoliosis, thorax malformations. The diagnosis is established based on the clinical symptoms and the imagistic investigations: CT, MRI - which indicate the joint modification and the ectopic bone tissue. Muscular biopsy is not indicated as it leads to new lesions in the already traumatized areas.
Assuntos
Miosite Ossificante/diagnóstico , Miosite Ossificante/terapia , Adulto , Feminino , Humanos , Imageamento por Ressonância Magnética , Miosite Ossificante/diagnóstico por imagem , RadiografiaRESUMO
UNLABELLED: Recurrent pelvi-abdominal multilocular fluid collections in female patients may be of various aetiology: infections, haemorrhage, benign or malignant tumours. PURPOSE: Diagnosis of such fluid collections is complex, imaging examinations (ultrasonography, computed tomography, MRI) and biochemical, cytological and histological examinations must be included. Some cases, however, are difficult to diagnose, and their treatment is uncertain. MATERIALS AND METHODS: We present the case of a 22-year-old unmarried female patient with minor symptoms, not correlated with a pelvi-peritoneal fluid collection extending into the infra-mesocolic space, revealed by ultrasonography and MRI. The aetiology was uncertain after biological examinations and cytology. The disease course was recurrent during 14 months, under anti-inflammatory treatment and surgical intervention with removal of the fluid (2.5 l), resection of the right ovary (histological examination revealed small ovarian mucinous cysts) and excision of a fibroma of the right utero-sacral ligament. Follow-up sonography was the chosen method for repeated diagnostic and therapeutic echo-guided punctures. Finally, after immuno-stimulating treatment, we observed almost complete remission of the peritoneal fluid collection. RESULTS: This paper reveals significant discordances between the clinical appearance and the presence of a large peritoneal fluid collection, between locally recurrent appearance and cytological and histopathological "benign" results, between positive intradermal reaction to tuberculin and negative culture of B. Koch from aspirate. There were concordances between immune electrophoresis and some cytological elements and between three dimensional and panoramic SieScape ultrasonography and MRI. We must, however, note the superiority of MRI in the designation of anatomical findings and analysis of the histological structure. CONCLUSION: The importance of this case is derived from the atypical clinical appearance and course, with uncertain aetiology after complex imaging, biological and surgical explorations.