Asunto(s)
Ansiedad/etiología , Regulación de la Temperatura Corporal , Hipertiroidismo/diagnóstico , Debilidad Muscular/etiología , Taquicardia/etiología , Temblor/etiología , Pérdida de Peso , Antagonistas Adrenérgicos beta/uso terapéutico , Antitiroideos/uso terapéutico , Diagnóstico Diferencial , Enfermedad de Graves/diagnóstico , Humanos , Hipertiroidismo/tratamiento farmacológico , Hipertiroidismo/etiología , Masculino , Metimazol/uso terapéutico , Persona de Mediana Edad , Cintigrafía , Pertecnetato de Sodio Tc 99m , Pruebas de Función de la TiroidesRESUMEN
A 39-year-old woman presented to the emergency room with fever and tender swollen neck two days after the first injection of Peginterferon alpha-2a (Pegasys). She had been under Interferon therapy for melanoma over the last five months. Because of side effects Interferon alpha-2a (Roferon-A) was discontinued and she was given Peginterferon alpha-2a. On examination, she was unwell, febrile (38.8 degrees C) and her pulse was 110/min. Laboratory findings were as follow: erythrocyte sedimentation rate 85 mm/h, C-reactive protein 143 mg/L, white cell count of 11 x 10(9)/L (3.0-9.6), TSH 0.10 mU/L (0.27-4.20), fT4 24.2 pmol/L (12-22), fT3 5.5 pmol/L (2.8-7.1) antinuclear antibodies 1:80, antithyreoglobulin antibodies 212 IE/ml (< 100), thyreoglobulin 442 microg/L, anti-TPO normal and TSH receptor antibodies were negative. Ultrasonography revealed an enlarged, focally hypoechoic thyroid. We suspected she had a Peginterferon alpha-2a induced thyroiditis de Quervain and started a therapy with NSAR and thereafter with Prednison 20 mg. Her symptoms resolved within few days. Thyroiditis in association with Interferon alpha-2a have already been reported. Not known is, to our knowledge, an acute thyroiditis as a side effect of treatment with Peginterferon alpha-2a. Our case shows that also Peginterferon alpha-2a can induce an inflammation of the thyroid similar to de Quervain's thyroiditis.
Asunto(s)
Fiebre de Origen Desconocido/etiología , Interferón-alfa/efectos adversos , Melanoma/tratamiento farmacológico , Dolor de Cuello/etiología , Polietilenglicoles/efectos adversos , Neoplasias Cutáneas/tratamiento farmacológico , Tiroiditis Subaguda/inducido químicamente , Adulto , Quimioterapia Adyuvante , Diagnóstico Diferencial , Femenino , Humanos , Interferón alfa-2 , Interferón-alfa/uso terapéutico , Polietilenglicoles/uso terapéutico , Proteínas Recombinantes , Muslo , Tiroiditis Subaguda/diagnósticoRESUMEN
Nicephor[e] is a project funded by "Swiss Virtual Campus" and aims at creating a distant or mixed web-based learning system in forensic and scientific photography and microscopy. The practical goal is to organize series of on-line modular courses corresponding to the educational requirements of undergraduate academic programs. Additionally, this program could be used in the context of continuing educational programs. The architecture of the project is designed to guarantee a high level of knowledge in forensic and scientific photographic techniques, and to have an easy content production and the ability to create a number of different courses sharing the same content. The e-learning system Nicephor[e] consists of three different parts. The first one is a repository of learning objects that gathers all theoretical subject matter of the project such as texts, animations, images, and films. This repository is a web content management system (Typo3) that permits creating, publishing, and administrating dynamic content via a web browser as well as storing it into a database. The flexibility of the system's architecture allows for an easy updating of the content to follow the development of photographic technology. The instructor of a course can decide which modular contents need to be included in the course, and in which order they will be accessed by students. All the modular courses are developed in a learning management system (WebCT or Moodle) that can deal with complex learning scenarios, content distribution, students, tests, and interaction with instructor. Each course has its own learning scenario based on the goals of the course and the student's profile. The content of each course is taken from the content management system. It is then structured in the learning management system according to the pedagogical goals defined by the instructor. The modular courses are created in a highly interactive setting and offer autoevaluating tests to the students. The last part of the system is a digital assets management system (Extensis Portfolio). The practical portion of each course is to produce images of different marks or objects. The collection of all this material produced, indexed by the students and corrected by the instructor is essential to the development of a knowledge base of photographic techniques applied to a specific forensic subject. It represents also an extensible collection of different marks from known sources obtained under various conditions. It allows to reuse these images for creating image-based case files.
Asunto(s)
Instrucción por Computador , Medicina Legal/educación , Sistemas en Línea , Fotograbar/educación , Dermatoglifia , Humanos , MicroscopíaRESUMEN
A 44-year old man consulted our emergency room three months after returning from holidays in Sri Lanka: Following a short episode of fever, he observed rise of four large reddish skin lesions that central paling. We considered infection with Borrelia burgdorferi (erythema migrans), streptoccoci (erysipelas), or fungi (tinea corporis). Erysipelas was improbable because of slow progression with little systemic inflammatory response, fungi were not detected in direct microscopic examination. Aspect of the skin lesions was typical for erythema migrans, however, we were not familiar with multilocular appearance of this disease. Nevertheless--on the basis of clinical observations and detection of serum IgM against Borrelia burdorferi--we diagnosed multilocular erythema migrans and treated with doxycycline 200 mg daily for 10 days. The skin lesions completely disappeared within a few days. Erythema migrans may present unilocular or multilocular, depending on Borrelia species involved. In Europe (mainly B. afzelii and B. garinii), multilocular manifestation is rare and, therefore, often misinterpreted. It is important, however, to diagnose and treat multilocular erythema migrans because early hematogenic dissemination is underlying. In America B. burgdorferi sensu stricto infection more often presents with multilocular erythema migrans and systemic clinical manifestations.
Asunto(s)
Borrelia burgdorferi , Eritema Crónico Migrans , Adulto , Antibacterianos/administración & dosificación , Antibacterianos/uso terapéutico , Anticuerpos Antibacterianos/análisis , Borrelia burgdorferi/inmunología , Diagnóstico Diferencial , Doxiciclina/administración & dosificación , Doxiciclina/uso terapéutico , Eritema Crónico Migrans/diagnóstico , Eritema Crónico Migrans/tratamiento farmacológico , Humanos , Masculino , Factores de Tiempo , Resultado del TratamientoAsunto(s)
Poliendocrinopatías Autoinmunes/diagnóstico , Insuficiencia Suprarrenal/diagnóstico , Insuficiencia Suprarrenal/genética , Insuficiencia Suprarrenal/inmunología , Hormona Adrenocorticotrópica/sangre , Especificidad de Anticuerpos/inmunología , Autoanticuerpos/inmunología , Diagnóstico Diferencial , Predisposición Genética a la Enfermedad/genética , Humanos , Hidrocortisona/sangre , Hipotiroidismo/diagnóstico , Hipotiroidismo/genética , Hipotiroidismo/inmunología , Masculino , Persona de Mediana Edad , Trastornos de la Pigmentación/diagnóstico , Trastornos de la Pigmentación/genética , Trastornos de la Pigmentación/inmunología , Poliendocrinopatías Autoinmunes/genética , Poliendocrinopatías Autoinmunes/inmunologíaRESUMEN
We report the case of a patient with eosinophilic fasciitis, a rare disease related to systemic sclerodermia and other fibrosing disorders. An involvement of the kidneys--like in this patient with proteinuria and hypoproteinemia--has been described in the literature but is very rare. We discuss diagnostic procedures and novel therapeutic options as combination therapies with steroids, methotrexate and ciclosporine A.
Asunto(s)
Artralgia/etiología , Diuréticos/uso terapéutico , Edema/etiología , Eosinofilia/diagnóstico , Eosinofilia/etiología , Fascitis/diagnóstico , Pierna , Proteinuria/etiología , Adulto , Diagnóstico Diferencial , Resistencia a Medicamentos , Edema/tratamiento farmacológico , Eosinofilia/tratamiento farmacológico , Fascitis/tratamiento farmacológico , Humanos , Procesamiento de Imagen Asistido por Computador , Inmunosupresores/uso terapéutico , Imagen por Resonancia Magnética , MasculinoRESUMEN
A 20-year old student had suffered since 3 years from diabetes mellitus type I, which was well-controlled by insulin-pump therapy. During a flight from Moscow to Los Angeles, the student all of a sudden had chest pain, dyspnea, and he vomitted repetitively--emergency landing at Zurich airport was necessary. The student presented at the emergency unit in a poor general condition with tachypnea (32/min) and tachycardia (136/min). Arterial blood gas analysis showed severe metabolic acidosis (pH 7.04), while pulmonary or cardiac disease could be ruled out. Diabetic ketoacidosis was caused by the pump running short of insulin. Treatment included rehydration and administration of insulin. Administration of insulin by an insulin-pump allows to continuously and flexibly adjust the dosage according to the requirement of the body. Interruption of insulin administration can cause, however, relatively fast ketoacidosis because exclusively short-acting insulin is used.
Asunto(s)
Aeronaves , Dolor en el Pecho/etiología , Diabetes Mellitus Tipo 1/diagnóstico , Cetoacidosis Diabética/diagnóstico , Disnea/etiología , Urgencias Médicas , Insulina/análogos & derivados , Viaje , Vómitos/etiología , Adulto , Glucemia/metabolismo , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Cetoacidosis Diabética/tratamiento farmacológico , Diagnóstico Diferencial , Electrocardiografía , Humanos , Inyecciones Intravenosas , Insulina/administración & dosificación , Sistemas de Infusión de Insulina , Insulina Lispro , Masculino , Taquicardia Sinusal/etiologíaRESUMEN
A 66-year old female suffering from rheumatoid arthritis was treated with methotrexate and intra-articular steroid injections. She had gone through pulmonary tuberculosis at the age of 2 years, also, surgery had been performed 2 years ago because of perforated sigmoid diverticulitis. The patient now presented with episodes of abdominal pain and diarrhea as well as occasional night sweats. Laboratory investigation (normal BSR, CRP and white blood cell counts) did not indicate the presence of an inflammatory process, such as reoccurrence of diverticulitis. However, leukocyturia was repetitively found in this patient with the conventional urine culture yielding no significant bacterial growth. Further urine investigation did not indicate infection with Chlamydia trachomatis or Neisseria gonorrhoeae. Ziehl Neelson stains of morning urinary samples did not show acid-fast rods, however, Mycobacterium tuberculosis was finally isolated by culture. Thus, urogenital tuberculosis was finally diagnosed in this patient. Infection, hematogenic dissemination, and spontaneous remission of pulmonary tuberculosis had occurred more than 60 years ago. After a long latent period, reactivation of tuberculosis happened during drug-induced immunosuppression. The patient was successfully treated with an anti-tuberculosis triple-drug therapy during 2 months followed by a double-drug therapy during 4 months.
Asunto(s)
Artritis Reumatoide/complicaciones , Tuberculosis Urogenital/diagnóstico , Anciano , Antibióticos Antituberculosos/administración & dosificación , Antibióticos Antituberculosos/uso terapéutico , Antituberculosos/administración & dosificación , Antituberculosos/uso terapéutico , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Humanos , Isoniazida/administración & dosificación , Isoniazida/uso terapéutico , Mycobacterium tuberculosis/aislamiento & purificación , Pirazinamida/administración & dosificación , Pirazinamida/uso terapéutico , Piridoxina/administración & dosificación , Piridoxina/uso terapéutico , Radiografía Abdominal , Rifampin/administración & dosificación , Rifampin/uso terapéutico , Factores de Tiempo , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Tuberculosis Urogenital/diagnóstico por imagen , Tuberculosis Urogenital/tratamiento farmacológico , Tuberculosis Urogenital/orina , Orina/microbiologíaRESUMEN
HISTORY AND ADMISSION FINDINGS: A 63-year-old female painter was referred for evaluation of the cause of persistent back pain, night sweat and an elevated blood sedimentation rate. Besides, she reported recurrent, probably "atopic eczema" of both hands. Clinical examination revealed midthoracic back pain but no actual skin lesions. INVESTIGATIONS: Contrast medium-enhanced magnetic resonance tomography of the spine showed an increased signal intensity of the thoracic vertebral bodies 6 - 10 and the prevertebral soft tissue in T1-weighted images with fat suppression. The finding was considered to be suspicious for malignant neoplasia. Despite performing various diagnostic tests, neither a malignant nor an infectious process of the spine could be diagnosed. DIAGNOSIS, TREATMENT AND COURSE: In-depth evaluation of history and clinical findings gave the diagnosis of SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis). CONCLUSION: The intention of this case report is to demonstrate, once more, the importance of carefully taking a patient's history and fully evaluating the clinical findings.
Asunto(s)
Síndrome de Hiperostosis Adquirido/diagnóstico , Síndrome de Hiperostosis Adquirido/complicaciones , Síndrome de Hiperostosis Adquirido/diagnóstico por imagen , Síndrome de Hiperostosis Adquirido/tratamiento farmacológico , Alendronato/uso terapéutico , Antiinflamatorios no Esteroideos/administración & dosificación , Antiinflamatorios no Esteroideos/uso terapéutico , Dolor de Espalda/diagnóstico , Dolor de Espalda/tratamiento farmacológico , Dolor de Espalda/etiología , Diagnóstico Diferencial , Diclofenaco/administración & dosificación , Diclofenaco/uso terapéutico , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Modalidades de Fisioterapia , Radiografía , Factores de TiempoRESUMEN
Epigastric pain is a frequent complaint in emergency patients and shows a wide spectrum of differential diagnostic possibilities. Dangerous causes with life threatening consequences have to be ruled out as soon as possible, including causes of extra abdominal organs (heart, great vesels). After checking for and adequate treatment of vital parameters an efficient management strategy should consider the acuteness of symptoms, as velocity of pain onset is often related to its seriousness (aneurysmatic rupture of great vessels, parenchymal damage or infarction). A rare cause of acute epigastric pain is bleeding or rupture of renal or hepatic cysts. Imaging techniques, such as ultrasound and computed tomography, are helpful in finding the correct diagnosis without loosing to much time. Therapy depends on aetiology and dignity of the lesion, often an invasive surgical intervention is the only possibility to confirm the correct diagnosis.
Asunto(s)
Dolor Abdominal/etiología , Quistes/diagnóstico , Urgencias Médicas , Hemorragia/diagnóstico , Hepatopatías/diagnóstico , Quistes/cirugía , Diagnóstico Diferencial , Hemorragia/cirugía , Humanos , Hepatopatías/cirugía , Masculino , Persona de Mediana Edad , Rotura Espontánea , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
Prevention and the correct treatment of the diabetic foot have important social and economic consequences. Risk stratification is essential for choosing the appropriate treatment strategy. History and careful clinical examination identify the risk in each individual patient with diabetes. Peripheral neuropathy (PNP), foot deformation, peripheral arterial disease (PAD) and a history of previous ulcer or amputation are the most important risk factors. PAD must be diagnosed and treated by percutan transluminal angioplasty or bypass surgery where necessary. Primary foot deformation or secondary due to PNP require shoe modifications. Good metabolic control of diabetes and treatment of other cardiovascular risk factors (dyslipidemia, hypertension) delay or prevent the development of PNP and PAD. Therefore an early multidisciplinary approach is essential for each patient with diabetes and foot problems. In the presence of a foot ulcer, it's important to diagnose osteomyelitis by clinical or radiological examination. The choice and duration of antibiotic treatment and surgical intervention depends on the localisation and extension of infection around the ulcer and the presence of osteomyelitis. In case of limb threatening infection, the patient should be referred to a specialized treatment facility immediately.
Asunto(s)
Diabetes Mellitus Tipo 2/terapia , Pie Diabético/terapia , Artropatía Neurógena/etiología , Artropatía Neurógena/terapia , Diabetes Mellitus Tipo 2/etiología , Angiopatías Diabéticas/etiología , Angiopatías Diabéticas/terapia , Pie Diabético/etiología , Neuropatías Diabéticas/etiología , Neuropatías Diabéticas/terapia , Humanos , Grupo de Atención al Paciente , Factores de RiesgoRESUMEN
Chest pain can be the only sign of osteomalacia. The case of a 37 years old patient from India, member of the religious group of the sikh, with vitamin D deficiency is presented. The disease developed as a consequence of reduced sun exposure (covering a substantial part of the body for ethnic reasons). The pathogenesis, clinical picture and implications for daily practice are discussed.
Asunto(s)
Dolor en el Pecho/etiología , Osteomalacia/diagnóstico , Adulto , Vestuario , Estudios de Seguimiento , Humanos , Hiperparatiroidismo Secundario/diagnóstico , Hiperparatiroidismo Secundario/etiología , Masculino , Osteomalacia/etiología , Luz Solar , Factores de Tiempo , Vitamina D/administración & dosificación , Vitamina D/uso terapéutico , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/diagnóstico , Deficiencia de Vitamina D/tratamiento farmacológicoRESUMEN
The structure of the 19-amino acid peptide epitope, corresponding to the 141-159 sequence of capsid viral protein VP1 of foot-and-mouth disease virus (FMDV), bound to three different resins, namely, polystyrene-MBHA, PEGA, and POEPOP, has been determined by high-resolution magic angle spinning (HRMAS) NMR spectroscopy. A combination of homonuclear and heteronuclear bidimensional experiments was used for the complete peptide resonance assignment and the qualitative characterization of the peptide folding. The influence of the chemicophysical nature of the different polymers on the secondary structure of the covalently attached FMDV peptide was studied in detail. In the case of polystyrene-MBHA and polyacrylamide-PEGA resins, the analysis of the 2D spectra was hampered by missing signals and extensive overlaps, and only a propensity toward a peptide secondary structure could be derived from the assigned NOE correlations. When the FMDV peptide was linked to the polyoxyethylene-based POEPOP resin, it was found to adopt in dimethylformamide a helical conformation encompassing the C-terminal domain from residues 152 to 159. This conformation is very close to that of the free peptide previously analyzed in 2,2,2-trifluoroethanol. Our study clearly demonstrates that a regular helical structure can be adopted by a resin-bound bioactive peptide. Moreover, a change in the folding was observed when the same peptide-POEPOP conjugate was swollen in aqueous solution, displaying the same conformational features as the free peptide in water. The possibility of studying solid-supported ordered secondary structures by the HRMAS NMR technique in a wide range of solvents can be extended either to other biologically relevant peptides and proteins or to new synthetic oligomers.
Asunto(s)
Cápside/química , Fragmentos de Péptidos/química , Secuencia de Aminoácidos , Proteínas de la Cápside , Epítopos , Datos de Secuencia Molecular , Resonancia Magnética Nuclear Biomolecular , Estructura Secundaria de Proteína , Resinas de Plantas , SolventesRESUMEN
We report a patient with a hepatic neuroendocrine tumor showing an extraordinary change of the tumor's humoral manifestations from a clinically documented extrapituitary acromegaly and a typical carcinoid syndrome toward a hyperinsulinemic hypoglycemia syndrome. At the primary manifestation of the tumor, an increased serum level of insulin-like growth factor I due to overproduction of GHRH and an increased urinary excretion of 5-hydroxyindoleacetic acid were found. The clinical manifestation of the GHRH excess was an arthralgia, which resolved completely after operative tumor debulking and normalization of insulin-like growth factor I and GHRH serum levels. The secretion of serotonin from the tumor resulted in a typical carcinoid syndrome including right-sided valvular heart disease. On the later course of the disease, the humoral manifestations of the tumor were supplemented by the secretion of insulin, leading to recurrent severe hyperinsulinemic hypoglycemia. The hepatic origin of hyperinsulinism was demonstrated by selective arterial calcium stimulation. Moreover, tumor cells revealed insulin and C-peptide immunoreactivity in the immunohistochemical analysis. The patient died 8 yr after the initial diagnosis of the tumor, and a carefully performed autopsy procedure confirmed the absence of any extrahepatic tumor manifestation.
Asunto(s)
Acromegalia/etiología , Hipoglucemia/etiología , Insulina/metabolismo , Neoplasias Hepáticas/metabolismo , Síndrome Carcinoide Maligno/etiología , Tumores Neuroendocrinos/metabolismo , Anciano , Femenino , Hormona Liberadora de Hormona del Crecimiento/metabolismo , Humanos , Secreción de Insulina , Neoplasias Hepáticas/patología , Tumores Neuroendocrinos/patología , Serotonina/metabolismoRESUMEN
When using catalytic flue gas cleaning, several flue gas compounds may influence oxidation reactions of hazardous volatile organic compounds, possibly leading to lower reaction rates and, thus, to an incomplete destruction. Experimental investigations were performed with regard to the influence of selected flue gas compounds, like hydrogen chloride, sulfur dioxide, oxygen, and water vapour, on the catalytic destruction behavior of chlorobenzenes under flue gas cleaning conditions of an incineration plant. For this purpose, a metal oxide catalyst was operated at different temperatures at a space velocity of 3600 h-1 in a laboratory-scale fixed bed reactor with model flue gases, and with real flue gases generated from the TAMARA waste incineration plant. The results obtained from the studies with model flue gas were analyzed with respect to reaction kinetics. These kinetics were applied for comparison with the experimental data gained in the real flue gas.
Asunto(s)
Clorobencenos/química , Gases/química , Incineración/instrumentación , Dibenzodioxinas Policloradas/análogos & derivados , Administración de Residuos/métodos , Catálisis , Residuos Peligrosos/análisis , Incineración/métodos , Cinética , Modelos Teóricos , Oxidación-Reducción , Dibenzodioxinas Policloradas/química , Contaminantes del Suelo , Titanio/química , Tungsteno/química , Vanadio/química , VolatilizaciónAsunto(s)
Neoplasia Endocrina Múltiple Tipo 2a/sangre , Hormona Paratiroidea/sangre , Glándula Tiroides/trasplante , Neoplasias de la Tiroides/sangre , Trasplante Heterotópico , Adulto , Brazo , Recolección de Muestras de Sangre/métodos , Humanos , Masculino , Neoplasia Endocrina Múltiple Tipo 2a/cirugía , Neoplasias de la Tiroides/cirugía , TiroidectomíaRESUMEN
A 77-year old farmer presented with a history of three severe anaphylactoid reactions after hymenoptera stings for the last three years. No sensitisation to hymenoptera venoms could be shown on allergological work-up. The serum level of tryptase however was clearly elevated (37.1 micrograms/l; normal value: < 13.5 micrograms/l). The diagnosis of systemic mastocytosis could be confirmed by bone marrow biopsy. Patients with mastocytosis are at increased risk of anaphylactic/anaphylactoid reactions. They should be educated how to avoid trigger factors and they should always carry an emergency kit (H1 blocker, corticosteroid, adrenalin) and a "mastocytosis pass" with them. Venom immunotherapy is indicated in patients with proven hymenoptera allergy. Selected patients at very high risk of anaphylactic reactions may need a continuous prophylactic medication with H1 and H2 blocker and eventually a cyclooxygenase inhibitor.
Asunto(s)
Anafilaxia/diagnóstico , Himenópteros , Mordeduras y Picaduras de Insectos/diagnóstico , Mastocitosis/diagnóstico , Anciano , Animales , Diagnóstico Diferencial , Humanos , MasculinoRESUMEN
The solid-phase synthesis of 2,5-diketopiperazines containing the trans-4-hydroxy-L-proline amino acid residue (Hyp) was performed on Ellman polystyrene, polyoxyethylene-polyoxypropylene (POEPOP), polystyrene-polyoxyethylene NovaSyn, and Wang resins, respectively. The reaction pathway allowed the introduction of different functional groups around the bicyclic scaffold in a combinatorial approach, and it generated mixtures of isomers. A detailed characterization of the single reaction steps by high resolution magic angle spinning (HRMAS) NMR spectroscopy was performed. The NMR spectral resolution of the resin-bound intermediates and final products was greatly influenced by the polymer matrix. The POEPOP resin permitted to obtain HRMAS NMR spectra with a resolution comparable with that of the spectra of the molecules in solution. Moreover, configurational and conformational isomers formed during the solid-phase reaction steps could be detected and easily assigned. Therefore, the combination of the HRMAS NMR technique with the use of nonaromatic resins may become an extremely powerful tool in solid-phase organic synthesis. This approach will allow the monitoring of multistep reactions and the conception of on-bead structural studies either on small molecules or on natural and/or synthetic oligomers.
Asunto(s)
Cromosomas Humanos Par 10 , Análisis Mutacional de ADN , Proteínas de Drosophila , Pruebas Genéticas , Neoplasia Endocrina Múltiple Tipo 2a/genética , Proteínas Proto-Oncogénicas/genética , Proteínas Tirosina Quinasas Receptoras/genética , Femenino , Mutación de Línea Germinal/genética , Humanos , Persona de Mediana Edad , Neoplasia Endocrina Múltiple Tipo 2a/diagnóstico , Fenotipo , Proteínas Proto-Oncogénicas c-retRESUMEN
We describe the exceptional association of Vogt-Koyanagi-Harada syndrome (VKHS) and hypothyroidism in a 29-year-old man of Indian heritage. VKHS is a rare uveomeningoencephalitic syndrome with probably autoimmune pathogenesis. Nontraumatic uveitis, aseptic meningoencephalitis, vitiligo, alopecia and poliosis are the leading clinical features of VKHS. The reported patient presented with bilateral visual loss and progressive frontal headache. VKHS was diagnosed due to characteristic ophthalmological findings and the diagnosis of aseptic meningitis. Due to the autoimmune pathogenesis, VKHS may be rarely associated with other autoimmune disorders. Association of VKHS with autoimmune thyroid disease has been described in the literature in three patients. In the reported case hypothyroidism due to chronic autommune thyroiditis was diagnosed in association with VKHS. Routinely determination of thyroid function in patients with VKHS is recommended.