RESUMO
A man in his mid-20s presented with a painless swelling over his right thigh, which had been progressively increasing over 3 years. He underwent an excisional biopsy for the same, which showed reactive lymphadenopathy. Since the last year and a half, he developed a lower abdominal wall swelling with mild redness over it. In addition, over the last few months before presentation to haematology outpatient clinic, he experienced bouts of fever, night sweats, anorexia, weight loss and right inguinal lymphadenopathy. On examination, splenomegaly was identified. In view of the patients' symptoms, he underwent a positron emission tomography scan, which showed hypermetabolic activity in the subcutaneous tissue sparing the lymph nodes and spleen. A deep skin punch biopsy taken from his right thigh was consistent with the diagnosis of subcutaneous panniculitis-like T-cell lymphoma αß T-cell phenotype. The patient was treated successfully with oral steroids and on routine follow-up, he is in remission for 5 years.
Assuntos
Linfadenopatia , Linfoma de Células T , Humanos , Masculino , Coxa da Perna , Linfoma de Células T/complicações , Linfoma de Células T/diagnóstico , Linfoma de Células T/tratamento farmacológico , HipertrofiaRESUMO
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral disease characterized by progressive neurodegeneration with variable involvement of multisystemic abnormalities. Crohn's disease (CD) is an inflammatory bowel disease (IBD) with a multifactorial etiology influenced by variants in NOD2. Here, we investigated a patient with plausible multisystemic overlapping manifestations of both NPC and CD. Her initial hospitalization was due to a prolonged fever and non-bloody diarrhea. A few months later, she presented with recurrent skin tags and anal fissures. Later, her neurological and pulmonary systems progressively deteriorated, leading to her death at the age of three and a half years. Differential diagnosis of her disease encompassed a battery of clinical testing and genetic investigations. The patient's clinical diagnosis was inconclusive. Specifically, the histopathological findings were directed towards an IBD disease. Nevertheless, the diagnosis of IBD was not consistent with the patient's subsequent neurological and pulmonary deterioration. Consequently, we utilized a genetic analysis approach to guide the diagnosis of this vague condition. Our phenotype-genotype association attempts led to the identification of candidate disease-causing variants in both NOD2 and NPC1. In this study, we propose a potential composite digenic impact of these two genes as the underlying molecular etiology. This work lays the foundation for future functional and mechanistic studies to unravel the digenic role of NOD2 and NPC1.
Assuntos
Doença de Crohn , Proteína C1 de Niemann-Pick , Doença de Niemann-Pick Tipo C , Proteína Adaptadora de Sinalização NOD2 , Doença de Crohn/diagnóstico , Doença de Crohn/genética , Feminino , Estudos de Associação Genética , Testes Genéticos , Humanos , Proteína C1 de Niemann-Pick/genética , Doença de Niemann-Pick Tipo C/diagnóstico , Doença de Niemann-Pick Tipo C/genética , Doença de Niemann-Pick Tipo C/patologia , Proteína Adaptadora de Sinalização NOD2/genéticaRESUMO
Cerebral venous sinus thrombosis secondary to inflammatory bowel disease is a clinically rare and challenging entity with serious sequela. We preset a case of a 15-year-old female patient who was recently diagnosed with ulcerative colitis and had been suffering from headache for 4 days duration. During the diagnostic workup, computed tomography (CT) venography revealed Dural venous sinus thrombosis in the left transverse sinus extending into the left sigmoid sinus and the upper third of the left internal jugular vein as well as into the sinus confluence with non-occlusive filling defects in the superior sagittal sinus. Anticoagulant therapy with enoxaparin was initiated and the patient is being monitored in an outpatient setting regularly. Post-discharge disease course was uneventful. CT venography performed after 3 months illustrated partial recanalization of both left transverse and sigmoid sinuses. CVST is a rare extraintestinal manifestation of ulcerative colitis with significant morbidity and mortality which requires a high level of suspicion to establish a clear diagnosis. In spite the fact that CVST is rare, it should be ruled out in inflammatory bowel disease patients with new onset seizures, headache, along with focal, and non-focal neurologic symptoms.
RESUMO
BACKGROUND: Hydatid disease is an endemic disease in many countries of the world including the Middle East. It mainly affects the liver and lungs. Intramuscular hydatid disease is rarely reported in children. Such uncommon localization of hydatid cyst may pose difficulties in the clinical and radiological diagnosis; hence affecting patient's management and outcome even in endemic areas. CASE PRESENTATION: We herein describe intramuscular hydatid cysts in 2 different children. The first case is a 5-year-old boy who presented with a painless palpable lump over the right lumbar paraspinal region. His history was remarkable for sheep contact. His laboratory results revealed a mild increase in white blood cell (WBC) count and C-reactive protein. The lesion showed typical features of a hydatid cyst on ultrasound. Further imaging including ultrasound of the abdomen and CT of the chest, abdomen, and pelvis showed infestation of the liver and lung as well. The lesions were resected surgically without complications. The patient received Albendazole preoperatively and after surgery for 3 months. No evidence of recurrence was seen during follow-up. The second case is a 6-year-old girl who presented with an incidental palpable lump in her left thigh during her hospital admission for recurrent meningitis. Ultrasound and MRI imaging were performed demonstrating a unilocular cystic lesion in the left proximal rectus femoris muscle. A provisional diagnosis of hematoma vs. myxoma was given. Biopsy was performed and yielded blood products only. The lesion was resected surgically with a postoperative diagnosis of hydatid cyst. Blood tests performed afterward showed a positive titer for Echinococcus. The patient received Albendazole for 3 months. No evidence of recurrence was seen during follow-up. CONCLUSIONS: Despite its rarity; skeletal muscle hydatid cyst should always be considered in the differential diagnosis of cystic muscle lesions in children in endemic areas even if imaging studies did not show any of the typical signs. This will improve patient outcome by preventing unnecessary cystic puncture which might lead to serious complications, such as anaphylaxis and local dissemination.
Assuntos
Equinococose , Echinococcus , Albendazol/uso terapêutico , Animais , Criança , Equinococose/diagnóstico por imagem , Equinococose/cirurgia , Feminino , Humanos , Imageamento por Ressonância Magnética , Recidiva Local de Neoplasia , OvinosRESUMO
BACKGROUND Hemosiderotic synovitis (HS) is a rare proliferative synovial disorder with incompletely understood pathophysiology. It mainly affects the knee joint. It can be confused with pigmented villonodular synovitis (PVNS), both clinically and radiologically. HS has not been previously reported in children, and this rare incidence may lead to difficulties in early clinical and radiological diagnosis, possibly affecting the patient's outcome. CASE REPORT A 13-year-old boy presented with progressive right knee pain, swelling, and limitation of movement 2 months after a traumatic injury in a soccer game. His past medical and family history was unremarkable. His physical exam showed right knee effusion, fullness in the popliteal fossa, and painful restriction in active and passive knee motion. Laboratory tests showed a mildly elevated erythrocyte sedimentation rate. Knee X-rays showed joint effusion. Knee MRI showed large knee joint effusion with diffuse low signal intensity villous synovial hypertrophy in all sequences in addition to a large popliteal cyst with the same imaging characteristics, consistent with diffuse-form PVNS. Total arthroscopic synovectomy was performed without complications. Intraoperatively, there was a large effusion containing yellow clots. The histopathological diagnosis was post-traumatic HS with no evidence of PVNS or malignancy. The patient showed significant clinical and radiological improvement postoperatively with no evidence of recurrence. CONCLUSIONS Post-traumatic HS is a very rare entity that should always be considered in the differential diagnosis of synovitis in active, non-hemophilic children. Radiologists' familiarity with this rare condition is important to guide correct and early diagnosis, and to avoid unnecessary invasive intervention.
Assuntos
Sinovite Pigmentada Vilonodular , Adolescente , Humanos , Joelho , Articulação do Joelho/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Recidiva Local de Neoplasia , Sinovite Pigmentada Vilonodular/diagnósticoRESUMO
To assess extraspinal findings (ESFs) prevalence in lumbar spine MRI, including clinically significant findings using a systematic approach, and to determine their reporting rate. Lumbar spine MRI scans were retrospectively reviewed over 18 months by two radiologists. Reading discrepancies were resolved by consensus. ESFs were classified according to the involved system, clinical diagnosis, and clinical significance. The reporting rate was estimated by referring to the original report. There were 1509 ESFs in 1322/4250 patients with a substantial agreement between the two radiologists (kappa = 0.8). Almost half (621/1322) were in the 45-60 age group. Females represented 56.6% (748/1322). 74.2% (1120/1509) of the ESFs involved the urinary system among which 79.6% (892/1120) were renal cysts. Clinically significant findings represented 8.7% (131/1509) among which hydronephrosis represented 23% (30/131). First time detected malignant lesions represented 4.6% (6/131). ESFs reporting rate was 47.3%. 58.8% of the clinically significant ESFs were not reported. ESFs prevalence was 31.1%. The Urinary system was the most commonly involved. Most ESFs were benign warranting no further workup. However, clinically significant ESF were not infrequently detected. More than half of the clinically significant findings were not reported. A systematic review of MRI images is highly recommended to improve patient's outcome.
Assuntos
Vértebras Lombares/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Cistos/patologia , Feminino , Humanos , Achados Incidentais , Lactente , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Adulto JovemRESUMO
Fallopian tube obstruction is a major cause of female infertility. We aimed to evaluate the factors potentially affecting pregnancy rate following fallopian tube recanalization (FTR) in infertile women with proximal fallopian tube obstruction. Data was retrospectively collected for 61 women (25, primary infertility; 36, secondary infertility) who underwent FTR at our institution. Bivariable and multivariable analyses of clinical pregnancy rates in relation to the following factors were performed: primary vs. secondary infertility, duration of infertility, age at the time of FTR, unilateral vs. bilateral obstruction, and previous pelvic interventions. All women who underwent fluoroscopically guided transcervical FTR of one or both proximally obstructed tubes were successfully recanalized (technical success rate, 100%). Within a year after FTR, 41% of women had conceived. None of the studied variables was significantly associated with pregnancy rate on bivariable analysis. Nevertheless, on multivariable analysis, the type and duration of infertility were significantly associated with pregnancy among women aged <35 years at the time of FTR. Our findings regarding pregnancy rates following FTR reflect the diversity of the patient population and suggest the presence of multiple contributing factors. Younger women with secondary infertility for <5 years are highly likely to achieve conception following FTR.