reporte de caso

Caso clínico: presentamos una paciente de 33 años con anorexia nerviosa de 15 años de evolución con uno de los pocos casos reportados de fallo hepático agudo severo secundario a la desnutrición.Discusión: tras el soporte nutricional protocolizado para evitar el síndrome de realimentación y un adecuado manejo multidisciplinar, la paciente evoluciona favorablemente logrando normalizar los electrolitos, la función hepática y las alteraciones en la coagulación.

INTRODUCTION: 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that usually presents in the neonatal period with vomiting, metabolic acidosis, hypoglycemia and absent ketonuria. Few cases are reported in the literature, and optimal dietary management and long term outcome are not fully understood. CASE REPORT: We report a 2 year old girl with HMG-CoA-lyase deficiency who had limited fasting tolerance on a low protein diet, with several recurrent hospital admissions with severe hypoketotic hypoglycaemia and metabolic acidosis...

Retronychia is a clinical condition resulting from embedding of the nail plate into the proximal nail fold. We report two adolescent girls, 14 and 16 years of age, with a history of chronic proximal paronychia of the great toe, one of them developing osteomyelitis. After failure of treatment with several systemic antibiotics, nail avulsion was performed, leading us to the diagnosis of retronychia and with rapid and complete resolution of symptoms in both cases. Delay in diagnosis of retronychia can lead to local complications and prolonged discomfort...

Vemurafenib ha probado ser una herramienta útil en el tratamiento de melanoma metastásico con mutación BRAF-V600E. Los efectos adversos incluyen artralgias, fatiga y toxicidad cutánea, siendo infrecuente la paniculitis. Presentamos el caso de una paciente de 43 años con melanoma metastásico que desarrolla lesiones subcutáneas dolorosas en miembros inferiores y superiores, asociadas a clínica sistémica después de 2 semanas de inicio de tratamiento con Vemurafenib + Cobimetinib. La histología demostró paniculitis linfocitaria septal y lobulillar...

Primary hyperoxaluria (PH) is a metabolic liver disease with an autosomal recessive inheritance that results in oxalate overproduction that cannot be metabolized by the liver. Urinary excretion of oxalate results in lithiasis and nephrocalcinosis leading to a progressive loss of renal function that often requires renal replacement therapy despite medical treatment. Type 1 PH is the most common form and is due to a deficiency in the alanine-glycolate aminotransferase enzyme found in hepatic peroxisomes. Therefore, a liver-kidney simultaneous transplant (LKST) is the definitive treatment for end-stage renal disease (ESRD) patients...

La primera semana de septiembre de 2013, el Sistema Nacional de Vigilancia Epidemiológica identificó dos casos de cólera en Ciudad de México. Los cultivos de ambas muestras se confirmaron como Vibrio cholerae serogrupo O1, serotipo Ogawa, biotipo El Tor. Los análisis iniciales por electroforesis por campos pulsados y por reacción en cadena de la polimerasa indicaron que ambas cepas eran similares, pero diferentes de las previamente reportadas en México. La semana siguiente se identificaron cuatro casos más en una comunidad del Estado de Hidalgo, ubicada a 121 kilómetros al noreste de Ciudad de México...

The new public health surveillance requires at the global, national and local levels the use of new authoritative analytical approaches and tools for better recognition of the epidemiologic characteristics of the priority health events and risk factors affecting the population health. The identification of the events in time and space is of fundamental importance so that the geo-spatial description of the situation of diseases and health events facilitates the identification of social, environmental and health care related risks...

INTRODUCTION: Simultaneous pancreas-kidney transplantation (SPKT) constitutes the therapy of choice for diabetes type1 or type2 associated with end-stage renal disease, because is the only proven method to restore normo-glicemic control in the diabetic patient. METHODS: Retrospective and descriptive study of a series of 175 patients who underwent SPKT from March 1995 to April 2016. We analyze donor and recipient characteristics, perioperative variables and immunosuppression, post-transplant morbi-mortality, patient and graft survival, and risk factors related with patient and graft survival...

The present document is the report of a case of a very rare clinical entity, which presents with acute multiorganic failure after a thrombotic storm related to antiphospholipid antibodies, the so-called catastrophic antiphospholipid syndrome, which began as a recurrent picture of mesenteric thrombosis, with a previous history of venous insufficiency and distal ulcers probably associated with an unidentified antiphospholipid; deserving management in intensive care and the consultation by the world expert, Dr...

Periprosthetic fractures is a severe complication after joint replacement. The rapidly increase of reverse shoulder arthroplasty surgeries, periprosthetic humeral fractures, which are described as rare, may increase in the near future. We report the case of displaced humeral fracture bellow the stem of reverse shoulder prosthesis. The patient was an 85-year-old woman who had a total shoulder replacement 6 years previously. The surgical solution consisted of plate osteossynthesis and cerclage. This report describes an unprecedented case in Brazilian literature; and gives an overview of the existing literature including this injury classification...

Germ cell tumors are rare neoplasms that mostly occur in the gonads, although they can also affect other body sites, especially the anterior mediastinum (50 to 70% of all extragonadal germ cell tumors). We report a case of a primary mediastinal yolk sac tumor, a rare and aggressive germ cell tumors subtype. This was a 38-year-old man who was admitted to Hospital do Servidor Público Estadual "Francisco Morato de Oliveira", complaining about dyspnea and dry cough for 1 year. The computed tomography scan of his chest revealed a large mass in the anterior mediastinum with heterogeneous enhancement to the contrast associated with pleural effusion...

Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G...

Epiphrenic diverticulum is a rare disease associated with esophageal motor disorders that is usually asymptomatic and has a well-established surgical indication. We report a case of giant epiphrenic diverticulum in a 59-year-old symptomatic woman who was diagnosed after underwent complementary exams. Because of her symptoms, the surgical treatment was chosen, and esophageal diverticulectomy was performed along with laparoscopic cardiomyotomy and anterior partial fundoplication.

Objective: To analyze the police reports filed by older adults who suffered abuse in order to identify the socio-demographic characteristics of victims and aggressors, type of violence, location, as well as to compare rates in three Brazilian cities in the period from 2009 to 2013. Method: Ecological study, in which 2,612 police reports registered in Police Stations were analyzed. An instrument was used to obtain data from the victim, the aggressor and the type of violence...

We describe the case of a 33-year-old man, a chronic user of powder cocaine, who presented with dyspnea, fever, night sweats, and significant weight loss. Chest HRCT revealed centrilobular nodules, giving an initial impression of miliary tuberculosis. Therefore, he was started on an empirical, four-drug antituberculosis treatment regimen. Four weeks later, despite the tuberculosis treatment, he continued to have the same symptoms. We then performed transbronchial lung biopsy. Histopathological analysis of the biopsy sample revealed birefringent foreign body granuloma...

Ectopic penis is usually associated with penoscrotal transposition, and it is rarely observed in isolation. We report a surgical approach for an extremely rare case. A 10-year-old male patient with bilateral cryptorchidism and ectopic penis and scrotum in perineal area, with no penoscrotal transposition, representing an association not yet described in literature. A previous orchiopexy failed due to ectopic scrotum. By means of an inverted Y incision, the penis was mobilized and a perineal skin flap in form of a testicular sac was prepared...

Given the challenge of clinical diagnosis of bullous skin lesions, this report aimed to discuss the histological changes, the presentation and clinical reasoning for diagnosis of these lesions. At the same time, the importance of the pathology was reviewed to identify these clinical scenarios. In this case report, we highlighted the clinical progression of a case of pemphigus foliaceus. RESUMO Considerando o desafio do diagnóstico clínico de lesões cutâneas de apresentação bolhosa, o presente trabalho procurou discutir as alterações histológicas, a apresentação e o raciocínio clínico para o diagnóstico de tais lesões...

Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5'UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified...

We present two cases of esophageal papillomatosis, a very rare reported disease leading to dysphagia and did not improve after endoscopic treatment. Both patients refused surgery and they were followed-up for 3 years, but no significant clinical or endoscopic changes were seen.

Giant splenic artery aneurysm is a rare condition that represents an eminent life threatening for the patient, requiring, therefore, urgent surgical correction. A 61-year-old woman, former smoker, hypertensive, hypercholesterolemic and multipara sought our service because of a large tumor in the mesogastrium, which was an abdominal ultrasound finding. Despite the size of the tumor, the patient was asymptomatic. The angiotomography and the magnetic resonance image of the abdomen were suggestive of giant splenic artery aneurysm with more than 10cm in diameter that was confirmed by an angiography...