Sheila Ferreira

Caso clínicoDiarreia crónicaChronic diarrhea

We report a case of a 46-year old woman with chronic diarrhoea for the previous eight years associated with significant weight loss. Subsequently the patient developed neurological symptoms with recurrent syncope events as well as urinary and anal incontinence. The diagnostic approach included a detailed clinical history and physical examination plus laboratory, endoscopic, radiology and neurological exams. A definitive diagnosis was made of familial amyloidotic polyneuropathy after confirmation of the specific protein mutation – TTRMet30- linked to this condition. The patient underwent successful liver transplantation.

Colitis pseudomembranosa refractaria

Costridium difficile -associated diarrhea is an important complication of antibiotic use. It is in many instances hospital-acquired and affects more commonly elderly patients with significant comorbidities, accounting for a significant number of deaths. Approximately 20% of all cases of diarrhea in developed countries are estimated to be secondary to antibiotic use. The most implicated antibiotics predisposing to this condition are clindamycin, penicilins, cephalosporins and fluoroquinolones (1). In recent years the disease has become more frequent, more severe in its clinical course, more refractory to conventional therapy and more prone to recurrences (1). Once diagnosis is established, previous antibiotic treatment should be discontinued and metronidazole (250 mg orally tid or 500 mg intravenous qid) or vancomycin 125 mg qid for 7-14 days must be administered.

Kaposi's sarcoma of the rectum

A 40-year old male patient, professor, without previous relevant medical history searched medical assistance for rectal bleeding for the previous two weeks associated with proctalgia. He denied perianal pruritus or secretions or other major complaints. At physical examination he presented with an excellent general state, without skin lesions or palpable adenopathies. Rectal digital examination detected an irregular and painful rectal mass with rough consistence. Laboratory data: leucocytes 5.800 μL (58.2% neutrophils; 32.3% lymphocytes), haemoglobin 13.7 g/dL, platelets 247.000/ μL, creatinine 1.01 mg/dL, blood-urea nitrogen 20 mg/dL, C-reactive protein 44.8 mg/dL. A colonoscopy was performed, revealing a polypoid vinous lesion occupying approximately 2/3 of the luminal circumference (Figs. 1 and 2). A macrobiopsy with a polipectomy snare was obtained. Histological analysis revealed multiple small blood vessels delimited by spindle cells displayed in a swirl pattern with areas of bleeding and hemosiderin deposits. Immunohistochemical staining was positive for vimentin, CD 31 and CD 34 (Fig. 3). These findings were highly suggestive of Kaposi’s sarcoma afflicting the rectum. HIV serologies were positive. The subsequent investigation for other Kaposi’s lesions was negative. Kaposi’s sarcoma of the rectum

Pyogenic Granuloma of the Jejunum: an Unusual Cause of Anemia

Pyogenic granuloma is a benign vascular lesion, uncommon in the gastrointestinal tract, and extremely rare in the small bowel. The diagnosis can be challenging prior to surgery, because of its unusual endoscopic appearance.We present a case of pyogenic granuloma of the jejunum diagnosed by capsule endoscopy and double-balloon enteroscopy and successfully managed by surgical resection.

Progressive visual loss in Retinitis Pigmentosa leads to cortical and subcortical reorganization of the human brain

Purpose Retinitis Pigmentosa (RP) is a retinal disease characterized by photoreceptor degeneration. Usually, symptoms are early onset night blindness followed by progressive peripheral vision loss, with central vision being later affected. Some patients become blind after several years of disease. We studied the consequences of this progressive loss of visual input in the human brain using Magnetic Resonance Imaging.

Brain structural and functional reorganization due to long term retinal peripheral degeneration in retinitis pigmentosa

Purpose Retinitis Pigmentosa (RP) is a rare retinal disease with progressive degeneration of photoreceptors leading to early peripheral and later central visual loss. It provides a model to analyze visual cortex plasticity since onset age ranges from infancy to adulthood. Prior studies have mostly covered structural or functional alterations in the same cohort; hence we aimed to determine the impact of RP on brain function and structure using magnetic resonance imaging.

P0381 GUILLAIN-BARRÉ SYNDROME AS FIRST MANIFESTATION OF HUMAN IMMUNODEFICIENCY VIRUS INFECCION

failed. He had very poor motor control and was initially unsafe to mobilise. Some of his baseline function was regained and he was discharged home with a care package. Discussion: This case highlights the importance of early recognition of the syndrome and subsequent prompt treatment with intensive care support. Despite suffering from a very complicated course, supportive treatment ensured survival and discharge from ITU. The mortality from NMS has reduced significantly over the last few decades. However, associated with the improved survival, there is increased recognition of persistent sequelae. In our patient, the prolonged recovery phase may have been due to exacerbation of his underlying schizophrenia, ITU delirium or related to the NMS itself. Further research will guide us in measures that prevent persistent sequelae and inform future management to ensure better outcomes.