ABSTRACT Gain-of-function mutations in the STAT1 gene have been initially associated with chronic mucocutaneous candidiasis. However, further research has shown that STAT1 GOF variants may increase susceptibility to infection by other intracellular pathogens. This report describes the first case of disseminated leishmaniasis associated with a STAT1 GOF mutation in a pediatric patient who did not have chronic mucocutaneous candidiasis. The patient was a four-year-old boy presenting with fever, severe asthenia, hepatosplenomegaly, pancytopenia, and liver failure. Bone marrow aspirate revealed hemophagocytosis […]

ABSTRACT Nasopharyngeal carcinoma is rare and affect mainly men between the fourth and sixth decades of life. The clinic is characterized to be nonspecific and the main complaints or findings related to this disease are: cervical mass, aural dysfunction, and headache. The basis of treatment is radiotherapy that involves a wide field of irradiation of normal tissues, which usually generates sequelae with direct implications for quality of life. We report a case of a nasopharyngeal carcinoma treated with radiotherapy and […]

ABSTRACT Prune belly syndrome is a rare congenital disease of unknown etiology that is present in one in every 40 thousand live births, and predominantly affects males, at a ratio of 4:1. In males, it presents with anomalies in the urinary system, absence of abdominal muscles, bilateral cryptorchidism, and infertility. In women, the syndrome has variable presentations, but fertility is preserved. Searching the medical literature, we found only one case of prune belly syndrome in pregnant women. Therefore, the patient […]

ABSTRACT This case report describes the holistic performance of the multidisciplinary team in a context of approaching the moment of death of a newborn, in a cross-cultural approach, and its impact on the working group. We report the clinical case of a neonate diagnosed as severe congenital heart disease, who evolved with early surgical intervention and died on the second day of life. Considering the neonatal intensive care unit an area requiring performance of a specialized team that addresses, with […]

ABSTRACT Lymphoceles are collections of lymphatic fluid, mainly caused by major surgical approaches. Most lymphoceles are asymptomatic and limited, but some cases may require a medical management. Among the different techniques, transafferent nodal embolization has emerged as a minimally invasive option, with low morbidity and high resolubility, although it is not widespread in the Brazilian scenario. In this study, we report a case of lymphocele drained percutaneously, with maintenance of high output and requiring transafferent nodal embolization.

ABSTRACT Dermatophytoses are fungal infections affecting the skin and cutaneous annexes. This clinical case report describes a 7-year-old girl with Kerion celsi, a severe manifestation of Tinea capitis. The patient presented with painful edematous crusty scalp lesions and alopecia, which required surgical debridement and long-term antifungal treatment. Culture of samples collected from scalp and arm skin lesions (patient and patient’s mother respectively) were positive for Trichophyton mentagrophytes. The family owned a pet guinea pig. This particular dermatophytosis is easily transmitted […]

ABSTRACT To describe a case of autologous chondrocyte implantation after cell culture contamination by Mycoplasma pneumoniae and the measures taken to successfully complete cell therapy in a patient with focal chondral lesion. A 45-year-old male patient, complaining of chronic pain on the knee and no history of trauma. He had a chondral lesion in the trochlear region of the femur and clinical tests compatible with pain in the anterior compartment of the knee. Conservative treatment failed to alleviate symptoms. Surgical […]

ABSTRACT Spontaneous renal artery dissection is an unusual and idiopathic condition in most cases. In young, mildly symptomatic patients, diagnosis may be difficult, frequently culminating in delay in treatment. This report presents the case of a 40-year-old male patient, with severe hypertension of sudden onset, and difficult management of oral medication. In etiological investigation, Echo-Doppler of renal arteries showed signs of hemodynamically relevant right renal artery stenosis. Arteriography showed presence of double-lumen and thrombus in the vessel lumen, indicating dissection. […]

ABSTRACT We describe the case of a female patient with calcification in renal topography, initially diagnosed as lithiasis in the left kidney, and later attributed to calcification of intrarenal vascular aneurysm. Next, we discuss the relevance of considering such an entity in the differential diagnoses of intrarenal calcifications before choosing any form of specific interventional treatment.

ABSTRACT Primary cardiac tumors are rare, with an incidence between 0.0017 and 0.19%, and are asymptomatic in up to 72% of cases. Approximately 75% of tumors are benign, and nearly 50% of these are myxomas. Concerning location, 75% of myxomas are in the left atrium, 15 to 20% in the right atrium, and more rarely in the ventricles. The finding of cardiac myxomas usually implies immediate surgical excision to prevent embolic events and sudden cardiac death. Reports with documented growth […]