RESUMEN
PURPOSE: To present the clinical, genetic, and histopathological features of the ninth family affected by congenital stromal corneal dystrophy (CSCD) to date. METHODS: Twelve cases of a Spanish family affected by CSCD were analyzed regarding history, visual acuity (VA, decimal scale), an ophthalmologic exam and specular microscopy. Five eyes were treated by deep anterior lamellar keratoplasty (DALK), and thirteen eyes by penetrating keratoplasty (PK). In the two last generations, a genetic study was performed. RESULTS: Most of the patients affected were born with opaque corneas except for three, whose corneas were clear at birth. Biomicroscopy showed a whitish diffuse stromal opacity with an unaltered epithelium, causing poor VA (from hand motions to 0.4). Patients treated with PK presented mean postoperative VA of 0.19±0.20 over a follow-up time of 235.3±101.4months with 38% recurrences. Patients who underwent DALK experienced VA improvement to 0.17±0.11 over a follow-up time of 10.8±2.6months without signs of recurrence. In the latter, the big bubble technique was not achieved, so a manual technique was performed. The genetic study showed heterozygosis for a 1-bp deletion at nucleotide 962 in exon 8 of the decorin gene. CONCLUSIONS: CSCD is a rare entity, which should be treated by DALK whenever possible, obtaining better results than PK. Close monitoring of children of affected individuals is important, because CSCD can progress during the early years of life.
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Distrofias Hereditarias de la Córnea , Trasplante de Córnea , Queratocono , Niño , Recién Nacido , Humanos , Trasplante de Córnea/métodos , Distrofias Hereditarias de la Córnea/diagnóstico , Distrofias Hereditarias de la Córnea/genética , Distrofias Hereditarias de la Córnea/patología , Queratoplastia Penetrante , Endotelio Corneal/patología , Estudios Retrospectivos , Resultado del Tratamiento , Queratocono/cirugíaRESUMEN
The idiopathic chronic cholangitides comprise a group of hepatobiliary diseases of probable autoimmune origin that are usually asymptomatic in the initial stages and can lead to cirrhosis of the liver. Elevated cholestatic enzymes on blood tests raise suspicion of these entities. Among the idiopathic cholangitides, the most common is primary sclerosing cholangitis, which is associated with inflammatory bowel disease and with an increased incidence of hepatobiliary and digestive tract tumors. It is important to establish the differential diagnosis with IgG4-associated cholangitis, primary biliary cholangitis, and secondary cholangitides, because the therapeutic management is different. Magnetic resonance cholangiopancreatography (MRCP) is the best test to evaluate the intrahepatic and extrahepatic biliary tract, and MRI also provides information about the liver and other abdominal organs. An appropriate MRCP protocol and knowledge of the different findings that are characteristic of each entity are essential to reach the correct diagnosis.
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Pancreatocolangiografía por Resonancia Magnética , Colangitis Esclerosante , Cirrosis Hepática Biliar , Conductos Biliares Extrahepáticos , Colangitis Esclerosante/diagnóstico por imagen , Colestasis , Diagnóstico Diferencial , Humanos , Cirrosis Hepática Biliar/diagnóstico por imagenRESUMEN
INTRODUCTION: Retinal astrocytic hamartoma is generally an asymptomatic benign tumour that may or may not be associated with the tuberous sclerosis complex. Haemorrhage is a rare presentation. CASE REPORT: The case concerns a 12-year-old patient with "a black spot" vision in the upper temporal hemifield of the right eye, who referred a similar episode 2 years ago. The anterior pole was normal in the slit lamp. A mass of translucent white-yellow peri-papillary appearance and vitreous peri-papillary haemorrhage was observed in funduscopy. The autofluorescence, fluorescence angiography, and optical coherence tomography characteristics were all compatible with retinal astrocytic hamartoma. Complementary studies (serology and X-rays) and the complete clinical examination rule out associated systemic involvement. The patient was followed-up closely until the vitreous haemorrhage was reabsorbed. CONCLUSION: Vitreous haemorrhage is a rare complication of Retinal astrocytic hamartoma and funduscopic exploration is difficult. Systemic involvement should be ruled out.
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Hamartoma/diagnóstico , Enfermedades de la Retina/diagnóstico , Hemorragia Vítrea/etiología , Astrocitos/patología , Niño , Angiografía con Fluoresceína , Hamartoma/patología , Humanos , Masculino , Enfermedades de la Retina/patología , Microscopía con Lámpara de Hendidura , Tomografía de Coherencia ÓpticaRESUMEN
Endometriosis is common in women of reproductive age; it can cause pelvic pain and infertility. It is important to diagnose endometriosis and to thoroughly evaluate its extension, especially when surgical treatment is being considered. Magnetic resonance imaging (MRI) with careful examination technique and interpretation enables more accurate and complete diagnosis and staging than ultrasonography, especially in cases of deep pelvic endometriosis. Furthermore, MRI can identify implants in sites that can be difficult to access in endoscopic or laparoscopic explorations. In this article, we describe the appropriate MRI protocol for the study of pelvic endometriosis and the MRI signs of pelvic organ involvement. It is necessary to know the subtle findings and to look for them so we can ensure that they are not overlooked. We describe clinical grading systems for endometriosis and review the diagnostic efficacy of MRI in comparison with other imaging techniques and surgery.
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Endometriosis/diagnóstico por imagen , Imagen por Resonancia Magnética , Pelvis/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética/métodosRESUMEN
OBJECTIVE: To analyze the MRI characteristics of uterine sarcomas (mainly carcinosarcomas) and to compare them with those of adenocarcinomas to define the findings that would be useful for the differential diagnosis. MATERIALS AND METHODS: We retrospectively reviewed the MRI studies of 13 patients with histologically diagnosed uterine sarcoma. We analyzed tumor size, signal in T2-weighted, unenhanced and gadolinium-enhanced T1-weighted, and diffusion-weighted sequences. We compared the data obtained with those of another series of 30 consecutive cases of adenocarcinomas studied with MRI. RESULTS: The sarcomas (> 9cm in 77% of cases) were considerably larger than the adenocarcinomas (p<0.001). There were no differences in FIGO staging by MRI or surgery: both tumor types were diagnosed in early stages. The signal intensity in T2-weighted images differed significantly between the two tumor types: all the sarcomas were heterogeneous and predominantly hyperintense with respect to the myometrium in T2-weighted sequences (p<0.001). In postcontrast studies, all the sarcomas showed enhancement greater than or equal to the myometrium; this finding was significantly different from the adenocarcinomas (p<0.001). In diffusion-weighted sequences, we found no significant differences in ADC values in the areas with greatest restriction, but the ADC map was more heterogeneous in the sarcomas. CONCLUSION: Uterine sarcomas do not have specific characteristics on MRI, but some findings can indicate the diagnosis. In our study, we found significant differences between sarcomas and adenocarcinomas. Sarcomas were larger, had more hyperintense and heterogeneous signal intensity in T2-weighted sequences, and enhanced more than or at least as much as the myometrium.
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Adenocarcinoma/diagnóstico por imagen , Imagen por Resonancia Magnética , Sarcoma/diagnóstico por imagen , Neoplasias Uterinas/diagnóstico por imagen , Adulto , Anciano , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
The traditional approach to the imaging evaluation of patients after gastric fundoplication is an upper gastrointestinal series obtained by fluoroscopy. In this article, we describe a new technique using multislice computed tomography that we think can be useful to evaluate patients with suspected complications or late failure after gastric fundoplication.
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Fundoplicación/efectos adversos , Tomografía Computarizada Multidetector , Complicaciones Posoperatorias/diagnóstico por imagen , HumanosRESUMEN
OBJECTIVES: To evaluate long-term use of antimalarial drugs and to analyse all causes of discontinuation. METHODS: This is a retrospective study of a cohort of rheumatic diseases patients on antimalarials, during a maximum period of 17.5 years. Case was defined as antimalarial treatment discontinuation due to: a) lack of efficacy, b) adverse events, and c) other causes. Survival techniques were used to estimate the incidence rate (IR) per 1,000 patient-years with the 95% Confidence Interval (95% CI) of antimalarial treatment discontinuation. Cox regression models were conducted to evaluate possible associated factors to antimalarial discontinuation. RESULTS: One thousand, two hundred and ninety-one medical records were reviewed, and 778 patients were included. Patients started 869 different courses of treatment, with a total follow-up of 2,263 person-years. The IR of global discontinuation was 204 (95% CI 186-224). Fifty-two per cent of the treatments stopped were related to adverse events, 14% to lack of efficacy; and 34% to other reasons (refusal to take medication, ocular comorbidity, remission, or pregnancy). Adverse events discontinuations were related to non-ophthalmologic reasons in 54.5% (gastrointestinal, neuro-psychiatric, skin problems), and to ophthalmologic adverse events in 45.5%. Nine patients suffered definite presence of antimalarial retinopathy (IR: 3.97 [IC 95%: 2.06-7.62]) and one of them irreversible loss of vision (IR: 0.44 [IC 95%: 0.06-3.12]). Women, increasing age, and chloroquine vs. hydroxychloroquine use, increased the risk of discontinuation due to ophthalmologic adverse events. CONCLUSIONS: Results suggest that antimalarials have a good balance between benefit and risk. However, we noted a number of discontinuations due to both inefficacy and adverse events. The potential for an unusual but serious ophthalmologic toxicity emphasises the importance of close ophthalmologic monitoring.
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Antimaláricos/administración & dosificación , Antirreumáticos/administración & dosificación , Cloroquina/administración & dosificación , Hidroxicloroquina/administración & dosificación , Enfermedades Reumáticas/tratamiento farmacológico , Adulto , Anciano , Antimaláricos/efectos adversos , Antirreumáticos/efectos adversos , Cloroquina/efectos adversos , Comorbilidad , Femenino , Estudios de Seguimiento , Humanos , Hidroxicloroquina/efectos adversos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Enfermedades Reumáticas/epidemiología , Factores de Riesgo , TiempoAsunto(s)
Candidiasis/inducido químicamente , Coriorretinitis/inducido químicamente , Hidradenitis Supurativa/tratamiento farmacológico , Inmunoglobulina G/efectos adversos , Infecciones Oportunistas/inducido químicamente , Antiinflamatorios no Esteroideos/efectos adversos , Etanercept , Femenino , Humanos , Persona de Mediana Edad , Receptores del Factor de Necrosis Tumoral , Factor de Necrosis Tumoral alfa/antagonistas & inhibidoresRESUMEN
CASE REPORT: A 74-year-old man developed a partial limbal stem cell deficiency secondary to a chemical injury in the left eye. He was treated with a sectorial conjunctival epitheliectomy and amniotic membrane transplantation. After 3 weeks there was an intact, smooth and stable corneal epithelium. DISCUSSION: This case report emphasizes that conjunctival epitheliectomy and amniotic membrane transplantation appears to be a safe and effective method of restoring a stable corneal epithelium for cases of partial limbal stem cell deficiency.
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Amnios/trasplante , Conjuntiva/cirugía , Limbo de la Córnea/cirugía , Anciano , Humanos , MasculinoRESUMEN
CASE REPORT: We present an unusual case of recurrent and bilateral multiple evanescent white dot syndrome (MEWDS), who had three bilateral episodes in a period of nine years. Thirteen years after the first episode, she was diagnosed with subretinal neovascularization (SRNV) which showed a satisfactory response to photodynamic therapy, with a final visual acuity of 20/40. DISCUSSION: MEWDS is considered classically to be an inflammatory disease with a good visual prognosis. Although the development of SRNV is unusual, we recommend long term follow-up of these patients since the early diagnosis and treatment of SRNV are both relevant for the retention of visual acuity.
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Neovascularización Coroidal/diagnóstico , Trastornos de la Visión/diagnóstico , Adulto , Femenino , Humanos , Recurrencia , Síndrome , Factores de TiempoRESUMEN
PURPOSE: To evaluate the long-term efficacy and safety of infliximab as treatment for noninfectious posterior uveitis. METHODS: An open-label clinical trial including seven patients (12 eyes) with posterior uveitis refractory to conventional treatment regimens with corticosteroids and at least one immunosuppressive agent. Three intravenous doses of 5 mg/kg of infliximab were administered at weeks 0, 2, and 6. Infliximab infusion was repeated in patients undergoing a relapse of uveitis after initial remission. Improvement was defined as amelioration of visual acuity or disappearance of retinal exudates and/or haemorrhages, decreased macular oedema and/or vitreous opacities. All patients were followed up for at least 36 months. RESULTS: Six of the seven patients (five diagnosed with Behçet's disease and one diagnosed with sarcoidosis) showed a significant improvement after the first infliximab dose. Only in one patient diagnosed with chronic idiopathic multifocal choroiditis did the drug have no effect, and this patient was withdrawn from the study. At the end of follow-up, one eye had lost one line of vision and three eyes showed improved vision. All eyes had improved in terms of signs of inflammation. No adverse effects of treatment were observed. CONCLUSION: Infliximab is efficient and safe for the long-term management of refractory posterior uveitis, especially in patients with predominant retinal vasculitis and vitritis.
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Anticuerpos Monoclonales/uso terapéutico , Inmunosupresores/uso terapéutico , Factor de Necrosis Tumoral alfa/antagonistas & inhibidores , Uveítis Posterior/tratamiento farmacológico , Adulto , Anciano , Síndrome de Behçet/tratamiento farmacológico , Síndrome de Behçet/fisiopatología , Esquema de Medicación , Femenino , Humanos , Infliximab , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Recurrencia , Resultado del Tratamiento , Uveítis Posterior/fisiopatología , Agudeza VisualAsunto(s)
Equinococosis Hepática/diagnóstico , Sistema Biliar/diagnóstico por imagen , Sistema Biliar/patología , Equinococosis Hepática/diagnóstico por imagen , Equinococosis Hepática/metabolismo , Femenino , Humanos , Metabolismo de los Lípidos , Hígado/diagnóstico por imagen , Hígado/patología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Rotura Espontánea/diagnóstico , Tomografía Computarizada por Rayos XRESUMEN
Magnetic resonance (MR) can give static, dynamic and angiographic images of the lumen and wall of the aorta and its branches, avoiding interventional procedures or ionizing radiation. Except for hemodynamically unstable patients or patients with pacemakers, MR probably is the safest and more comprehensive diagnostic imaging technique for aortic disease. Selection of appropriate imaging protocols in every clinical setting is mandatory to obtain good diagnostic information. In this paper we describe the state of the art of aortic MR examination, discussing the advantages and limitations of various pulse sequences. In an overview of aortic disease, we describe the main MR imaging findings and a suited MR protocol for each of the common pathologic entities, comparing MR with other imaging techniques.