ABSTRACT 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. […]

ABSTRACT 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.T.S., 39-year-old, […]

A 45-year-old woman sought ophthalmologic care complaining about a sudden visual acuity on her right eye and anisocoria. She denied previous comorbidities and traumas. Upon examination, her ocular motility was normal and no ptosis was seen. Slit-lamp biomicroscopy and fundoscopy exams were normal. The mydriasis of the right eye, with consensual light reflex of the left eye, did not show changes ( ). The patient, when questioned about the use of medication, reported the use on her face, in the […]

ABSTRACT 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.

A 13-year-old patient was referred for surgical treatment of scoliosis. Her neurological examination revealed the complete loss of horizontal eye movements with normal vertical gaze, suggesting diagnosis of horizontal gaze palsy and progressive scoliosis. The magnetic resonance imaging revealed a hypoplastic pons and medulla with a prominent midline cleft, therefore resulting in characteristic “butterfly” configuration.() The tractography showed absence of major crossing pathways within the pons and midbrain, and normal interhemispheric connections in the corpus callosum (). Surgical treatment for […]

A 13-year-old patient was referred for surgical treatment of scoliosis. Her neurological examination revealed the complete loss of horizontal eye movements with normal vertical gaze, suggesting diagnosis of horizontal gaze palsy and progressive scoliosis. The magnetic resonance imaging revealed a hypoplastic pons and medulla with a prominent midline cleft, therefore resulting in characteristic “butterfly” configuration.() The tractography showed absence of major crossing pathways within the pons and midbrain, and normal interhemispheric connections in the corpus callosum (). Surgical treatment for […]

ABSTRACT 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 […]

ABSTRACT Acute myeloid leukemia is a hematopoietic stem cell neoplastic disease associated with high morbidity and mortality. The presence of FLT3 internal tandem duplication mutations leads to high rates of relapse and decreased overall survival. Patients with FLT3 internal tandem duplication are normally treated with hematopoietic stem cell transplantation in first complete remission. Nevertheless, the incidence of post-transplant relapse is considerable in this group of patients, and the management of this clinical condition is challenging. The report describes the outcomes […]

ABSTRACT 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. However, this […]

A 45-year-old male patient, hospitalized and under investigation of mediastinal mass, presenting with sudoresis, malaise, and dysphagia. Computed tomography showed eccentric parietal thickening of the middle third of esophagus, with mass effect and upstream ectasia, with no expressive increase of metabolic activity. Additionally, there are cervical, axillary, pulmonary hilar, portocaval space, and unspecific iliac lymph nodes ( and ). […]