RESUMO
OBJECTIVE: To explore unusual association between Turner Syndrome (TS) and Hypopituitarism in a Tunisian cohort. METHODS: We reported 6 patients with TS associated to Hypopituitarism, including three familial cases except the fourth sister who showed only a TS phenotype. Biochemical analysis, resonance magnetic imaging and cytogenetic analyses were performed. RESULTS: The average age of our patients was 17.2 years (11-31 years). They were all referred for short stature and pubertal delay, except for the fourth sister who presented spontaneous puberty with the integrity of the pituitary axis and the presence of an X ring chromosome. Karyotype analysis showed monosomy in 3 cases and a mosaic TS in the 3 remaining cases, including one patient with abnormal X chromosome structure. Somatotropic and corticotropic deficiencies were confirmed in 2 sporadic cases while the gonadotropic and thyrotropic axes were spared. In contrast; familial cases were consistently affected by the integrity of the corticotropic axis. MRI showed pituitary hypoplasia in all familial cases and pituitary stalk interruption syndrome in only one sporadic case. No correlation was found between the chromosome formula and the anterior pituitary involvement. CONCLUSION: Co-segregation of congenital Hypopituitarism with pituitary hypoplasia and X chromosome aberrations could imply a molecular anomaly of transcription factors responsible for the differentiation and development of pituitary cells such as PROP1, POUF1, Hesx1, Lhx3, Lhx4. The etiopathogenic link between X chromosome abnormalities and the occurrence of Hypopituitarism remains unclear; however, the progress of molecular biology may clarify the interrelation between transcription factors and sex chromosome segregation abnormalities.
Assuntos
Hipopituitarismo/genética , Síndrome de Turner/genética , Adolescente , Adulto , Criança , Segregação de Cromossomos/genética , Feminino , Humanos , Hidrocortisona/deficiência , Hipogonadismo/genética , Hipopituitarismo/diagnóstico , Hipopituitarismo/epidemiologia , Hipotireoidismo/genética , Imageamento por Ressonância Magnética , Linhagem , Cromossomos Sexuais/genética , Fatores de Transcrição/genética , Tunísia , Síndrome de Turner/diagnóstico , Adulto JovemRESUMO
Patellar metastasis is uncommon. The clinical presentation is often misleading, suggestive of septic arthritis or meniscal disorder after knee trauma. We report the case of a 71-year-old patient who developed knee pain aggravated by movement with pseudo-blockage which was found to be related to a secondary localization of a primary lung cancer. Low blood flow in the patella probably explains why patellar metastasis is so rare.
Assuntos
Adenocarcinoma/patologia , Neoplasias Ósseas/secundário , Carcinoma Pulmonar de Células não Pequenas/secundário , Neoplasias Pulmonares/patologia , Patela/patologia , Idoso , Diagnóstico Diferencial , Humanos , Articulação do Joelho/patologia , Masculino , Dor/etiologiaRESUMO
Osteoid osteoma of the acetabulum can be expected to cause nonspecific symptoms of hip inflammation. In a sixteen year old girl, investigation by routine radiographs and a bone scan suggested a focus of inflammation with a nidus and sclerosis of the acetabulum and overgrowth of the head and neck of the femur. Removal of the lesion by an anterior approach with dislocation of the hip gave excellent results when seen after three years with a normal gait and normal hip motion.
Assuntos
Acetábulo , Neoplasias Ósseas/diagnóstico , Osteoma Osteoide/diagnóstico , Adolescente , Neoplasias Ósseas/cirurgia , Feminino , Humanos , Osteoma Osteoide/cirurgiaRESUMO
Cardiac myxomas are rare tumors which can mimic other diseases. We describe a 19-year-old man who presented clinically with polyarteritis nodosa (PAN). Muscle biopsy showed vasculitis, but corticosteroid and immunosuppressive therapy was initially effective. Cardiac myxomas were found by echocardiogram when the disease relapsed and were resected surgically. Segmental arterial aneurysms and stenoses were found on angiography after leg ischemia. We suggest that echocardiography should be performed in all cases of clinically suspected PAN.
Assuntos
Embolia/diagnóstico , Neoplasias Cardíacas/diagnóstico , Mixoma/diagnóstico , Poliarterite Nodosa/diagnóstico , Corticosteroides/uso terapêutico , Adulto , Diagnóstico Diferencial , Ecocardiografia , Embolia/patologia , Neoplasias Cardíacas/patologia , Humanos , Imunossupressores/uso terapêutico , Masculino , Músculos/patologia , Mixoma/patologia , Poliarterite Nodosa/patologia , Vasculite/tratamento farmacológico , Vasculite/patologiaRESUMO
Chronic hemodialysis is sometimes complicated by an osteoarticular amyloidosis, which happens after a middle delay of ten years, it can be expressed by a tunnel carpal syndrome, a shoulder pariarthritis, bony cysts, and erosive spondylarthropathy. The authors reported their experience about four cases, and insisted on some évocatoring radiologic aspects.
Assuntos
Amiloidose/etiologia , Doenças Ósseas/etiologia , Artropatias/etiologia , Diálise Renal/efeitos adversos , Adulto , Amiloidose/diagnóstico por imagem , Doenças Ósseas/diagnóstico por imagem , Síndrome do Túnel Carpal/etiologia , Humanos , Artropatias/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Dor/etiologia , Periartrite/etiologia , Radiografia , Fatores de TempoRESUMO
Protein electrophoresis and immunoelectrophoresis carried out on 4805 sera and 93 urine samples from Tunisian patients over 8 years, and a monoclonal protein was detected in 198 cases. The distribution of the monoclonal compounds to the clinical diagnosis was studied. 115 (58%) were classified as multiple myeloma (MK), 34 (17%) as alpha heavy chain disease (MCL a), 34 (17%) as monoclonal gammapathy associated to various diseases (GMOD), 11 (6%) as benign essential monoclonal gammapathies (GMBE), 4 (2%) as Waldenström's macroglobulinemia (MW). The relationship between the monoclonal immunoglobulin and the clinical diagnosis, the distribution of the monoclonal compounds according to the heavy chain class and the identification of the light chains were studied. The results obtained are in line with the principal data in literature concerning monoclonal gammapathy. However there is a particularity about monoclonal gammapathy observed in the Tunisian's population studied: Higher percentage of alpha heavy chain diseases, monoclonal IgD and monoclonal light chain. Lower percentage of monoclonal IgM in GMBE or GMOD, as in MW.
Assuntos
Paraproteinemias/epidemiologia , Idoso , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Paraproteinemias/classificação , Paraproteinemias/diagnóstico , Paraproteínas/análise , Tunísia/epidemiologiaRESUMO
According to data from the literature, intraorbital involvement in multiple myeloma is rare. Such involvement may result in exophthalmia, itself the first manifestation and presenting feature of myeloma. These lesions can respond remarkably to radiotherapy. The authors present a new case report.
Assuntos
Mieloma Múltiplo/complicações , Neoplasias Orbitárias/complicações , Exoftalmia/etiologia , Feminino , Humanos , Pessoa de Meia-Idade , Mieloma Múltiplo/radioterapia , Neoplasias Orbitárias/radioterapiaRESUMO
Diseases of cranial nerves are very seldom associated with multiple myeloma. However, their occurrence as a harbinger of multiple myeloma seems to bear a particular significance and is worth mentioning. In the present paper, we discuss two cases in which disorders of cranial nerves heralded Kahler's disease. The patients presented with posterior laterocondylar space and cochleovestibular (otoliquorrhea) syndromes, respectively. We stress the diagnostic problems involved and analyze the pathogenesis of diseases of the nervous system associated with multiple myeloma. Diseases of cranial nerves are seldom associated with multiple myeloma. Nonetheless, the clinical setting and laboratory tests will direct the diagnosis. The same does not hold true when one is confronted with Collet-Sicard's syndrome or cochleovestibular syndrome accompanied by otoliquorrhea.
Assuntos
Doenças dos Nervos Cranianos/etiologia , Mieloma Múltiplo/complicações , Adulto , Idoso , Otopatias/etiologia , Humanos , Masculino , Mieloma Múltiplo/diagnóstico , Doenças Vestibulares/etiologiaAssuntos
Neoplasias Ósseas , Plasmocitoma , Idoso , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/terapia , Terapia Combinada , Diagnóstico Diferencial , Seguimentos , Humanos , Recidiva Local de Neoplasia , Plasmocitoma/diagnóstico , Plasmocitoma/terapia , Prognóstico , Dosagem Radioterapêutica , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/terapiaRESUMO
Pregnancy concomitant with Wegener's granulomatosis is extremely rare: so far, only four cases have been published. The authors report a fifth case where the disease appeared during the post-partum period, a situation which has already been noted in two of the published cases. Interruption of a subsequent pregnancy was followed by a flare-up of the disease resulting in the patient's death. This suggests that post-partum and post-abortum are probably instrumental in the onset and deterioration of Wegener's granulomatosis. The two patients previously reported who received immunosuppressants combined with corticosteroids had no flare-up after delivery. It seems permissible to prescribe such a therapeutic combination before and after delivery or abortion, especially since the fear of foetal toxicity from these drugs seems to be exaggerated.
Assuntos
Granulomatose com Poliangiite/complicações , Complicações Cardiovasculares na Gravidez , Aborto Terapêutico , Adulto , Feminino , Granulomatose com Poliangiite/tratamento farmacológico , Humanos , Período Pós-Parto , Gravidez , Complicações Cardiovasculares na Gravidez/tratamento farmacológicoRESUMO
In a retrospective study, the authors report 14 cases of osteoarticular manifestations, among 29 patients affected with a sickle cell disease observed at adult age. They insist on their frequency and their interest for diagnosis and prognostic. Effectively, the diagnosis has been revealed on occasion of these manifestations in 9 cases/14. The articular signs are noted in 35%, and the osseous signs in 25% of cases.
Assuntos
Anemia Falciforme/complicações , Doenças Ósseas/etiologia , Artropatias/etiologia , Adolescente , Adulto , Doenças Ósseas/diagnóstico por imagem , Medula Óssea/patologia , Feminino , Humanos , Hiperplasia , Infecções/etiologia , Artropatias/diagnóstico por imagem , Masculino , Radiografia , Estudos Retrospectivos , Trombose/etiologiaRESUMO
High toxoplasma antibody titers have been reported in polymyositis and other connectivitis with myositis. The authors describe a case of systemic lupus erythematosus with polymyositis and high titers of IgG toxoplasma antibodies. Studies of muscle biopsy specimens by immunofluorescence and inoculation of mice with muscle extracts failed to demonstrate the presence of Toxoplasma gondii. The nature of the toxoplasmic agression is discussed. It may be that reactivation of a previous infection due to the rupture of cysts was promoted by the immunologic disorders and complement deficiency related to systemic lupus erythematosus.
Assuntos
Anticorpos/análise , Dermatomiosite/imunologia , Lúpus Eritematoso Sistêmico/imunologia , Toxoplasma/imunologia , Adulto , Dermatomiosite/etiologia , Feminino , Imunofluorescência , Humanos , Lúpus Eritematoso Sistêmico/complicações , Toxoplasmose/complicaçõesRESUMO
The authors report ten cases of metacarpophalangeal calcifications in chondrocalcinosis. These calcifications are associated with a calcification of the triangular ligament of the wrist in the all cases. Cartilaginous calcifications of the wrist are found in 9 cases. Metacarpophalangeal calcifications concern mostly the third (9 cases) and the second (6 cases) metacarpophalangeal joint. They are present frequently on radial side (29 joints) rarely on cubital side (5 joints) with a calcification on radial and cubital side in 4 joints and a calcification on cubital side only in one joint. Calcic deposit concern almost the synovial and capsule, it is rarely cartilaginous one. The authors discuss the possibility of calcic deposit of the glenoidal fibrocartilage of the metacarpophalangeal joint.