Pulmonary artery sarcoma: a rare disease

Pulmonary artery sarcomas (PAS) are rare and probably incurable tumours. The clinical manifestations are non-specific and very similar to that of patients with thromboembolic disease, resulting in delay of the correct diagnosis and proper treatment. We report the case of a 66-year-old woman with PAS diagnosed by computed tomography guided biopsy. Chemotherapy treatment was initiated but the patient died 11 months after diagnosis.

Origem anômala de artéria coronária esquerda do tronco pulmonar: síndrome de Bland-White-Garland

A origem anômala da artéria coronária esquerda a partir do tronco pulmonar, conhecida como síndrome de Bland-White-Garland (BWG), é uma doença rara, que, habitualmente, leva à morte antes do primeiro ano de vida. Os autores relatam o caso de uma criança branca, com 2 anos e 6 meses de idade, portadora da síndrome de BWG, e revisam a apresentação clínica, a fisiopatologia, o diagnóstico e o tratamento desses pacientes.

Prevalence of dermatologic disorders in 15 patients with acromegaly

Acromegalia é doença crônica rara, insidiosa, decorrente da hipersecreção de hormônio do crescimento, cujos efeitos tróficos e metabólicos frequentemente incorrem em manifestações cutâneas, que podem ser precoces. Os autores avaliaram 15 pacientes portadores de acromegalia e evidenciaram alterações dermatológicas em todos, principalmente espessamento da pele, acrocórdons, cistos epidérmicos, pseudoacantose nigricante, queratoses seborreicas, nevos melanocíticos e manchas lentiginosas.

The first reported case of human tick paralysis in Brazil: a new induction pattern by immature stages

Tick paralysis (TP) is a rare disease with rapid progression and potential fatal evolution. Immediately after the diagnosis, removal of all ticks from the body of the patient is mandatory. The present study reports for the first time a human case of the disease in Brazil. The patient had loss of muscle strength, decreased reflexes and marked palpebral ptosis. Six hours after removal of the last tick, the ptosis improved and on the following day, the patient had near total regression of the symptoms. This report emphasizes the possible presence of similar cases that should be promptly diagnosed and quickly treated. A new induction pattern for TP in humans associated with immature stages of ticks is also presented.

Mola Completa em Gravidez Gemelar: relato de Caso

A gravidez gemelar na qual coexistem um feto normal e uma mola completa é um evento raro. Complicações clínicas e aumento de risco de malignização são de importância nesta patologia. Este trabalho descreve um caso de diagnóstico tardio em decorrência da presença do feto. Este diagnóstico foi feito no momento da resolução da gestação e confirmado por estudo histopatológico e citometria de fluxo. A resolução da gestação foi por via transpélvica em decorrência de hemorragia uterina maciça. O seguimento pós-molar evidenciou a persistência de níveis elevados de bhCG, obtendo-se remissão completa da doença com o uso do metotrexato. À luz deste caso, discutem-se o diagnóstico, a história natural e a conduta desta rara intercorrência na clínica obstétrica.

Systemic congenital lymphangiomatosis

A linfoangiomatose é uma doença rara, caracterizada pela exarcebação da proliferação dos canais linfáticos, ocorrendo em crianças e adultos jovens. Nós descrevemos um caso extremamente raro de linfoangiomatose sistêmica congênita, em um recém-nascido que apresentava ascite e insuficiência respiratória, desenvolvidos imediatamente após o nascimento. O óbito ocorreu nas primeiras horas de vida. Achados de autópsia demonstraram numerosos cistos em tecido mole da região cervical, mediastino, diafragma, e em diversos outros órgãos incluindo: fígado, baço, tireóide e rins. O grave e difuso acometimento de cistos nos pulmões pela linfoangiomatose foi associado ao mau prognóstico e morte no caso relatado.

Unilateral Facial Paralysis Caused by Ramsay Hunt Syndrome

The Ramsay Hunt syndrome is a rare disease caused by an infection of the geniculate ganglion by the varicella-zoster virus. The main clinical features of the syndrome are as follows: Bell palsy unilateral or bilateral, vesicular eruptions on the ears, ear pain, dizziness, preauricular swelling, tingling, tearing, loss of taste sensation, and nystagmus. We describe a 23-year-old white woman, who presented with facial paralysis on the left side of the face, pain, fever, ear pain, and swelling in the neck and auricular region on the left side. She received appropriate treatment with acyclovir, vitamin B complex, and CMP nucleus. After 30 days after presentation, the patient did not show any signs or symptoms of the syndrome. At follow-up at 1 year, she showed no relapse of the syndrome.

Cleidocranial Dysplasia - A Case Report

The cleidocranial dysplasia is a rare disease which can occur either spontaneously or by a dominant autosomal inheritance, with no predilection of genre or ethnic group. The odontologist is, most of the times, the first professional who patients look for to solve the problem, since there is a delay in the eruption and/or an absence of permanent teeth. In the case related in this work, this was the reason why the patient looked for treatment. Many others odontological problems are also present in this syndrome, such as, supernumerary teeth, retained teeth, with shape deviation and absence of deciduous teeth resorption. The premature diagnosis allows a proper orientation for the treatment, offering a better life quality for the patient.

Caso para diagnóstico

Apresenta-se um caso de bullosis diabeticorum, doença rara associada ao diabetes mellitus crônico e complicações como a neuropatia ou nefropatia. As bolhas são tensas e grandes, com pouca inflamação circundante e localização acral, regredindo espontaneamente em cerca de três semanas. O exame histopatológico é inespecífico, e o diagnóstico diferencial deve ser feito com a epidermólise bolhosa, os pênfigos, o penfigóide bolhoso, queimaduras e erisipelas bolhosas.

Management of an Unusual Presentation of Ascher Syndrome

Ascher syndrome is defined by the association between double lip, blepharochalasis, and nontoxic goiter. Because it is a rare disease, it is most often misdiagnosed, despite its implications for quality of life. We report a variation of an incomplete type of Ascher syndrome affecting the upper lip, upper eyelids, and lateral canthi of a young male patient. The surgical management, follow-up, and a brief overview of the syndrome are described. The results presented show an aesthetic and functional improvement of the facial deformities.

Granuloma facial: A proposito de dois casos

Granuloma faciale is a benign and rare disease restricted to the skin. Its etiopathogenesis is not related to systemic granulomatous and eosinophilic diseases. Two adult patients with reddish-brown lesions on the facial are reported. Among the treatments used, the more consistent results were observed with intralesional triamcinolona (Case 1) and with CO2 Laser (Case 2), with clear advantage of the laser therapy. The histopathology and the therapeutic options are discussed.

Mononeuropathy of the suprascapular nerve: Study of 3 South American cases

In this work 3 new cases of suprascapular nerve mononeuropathy are described. ENMG diagnosis criteria were: a) normal sensory conduction studies of the ipsolateral ulnar, median and radial nerves; b) bilateral suprascapular nerve latencies with bilateral compound muscle action potential, obtained from the infraspinatus muscle with symmetrical techniques; and c) abnormal neurogenic infraspinatus muscle electromyographic findings, coexisting with normal electromyographical data of the ipsolateral deltoideus and supraspinatus muscles. These 3 cases of suprascapular mononeurpathy were found in 6,080 ENMG exams from our University Hospital. For us this mononeuropathy is rare with a 0.05% occurrence.

Adenocarcinoma de apêndice: Relato de dois casos e revisão da literatura

Background: The adenocarcinoma of the appendix is a rare disease, generally identified as an acute appendicitis in the clinical presentation. Preoperative diagnosis is extremely difficult and uncommon. Objective: To present two cases of adenocarcinoma of the appendix, unique for presenting in early ages, and a complete literature review on this topic. Cases report: First case: a 24-year-old man submitted to appendectomy for acute inflammatory abdomen. Sent to hospital due to a histopathological diagnosis of mucinous adenocarcinoma of the appendix. Right hemicolectomy, epiploectomy, ganglion and partial abdominal wall resection were performed. The patient is now in chemotherapy. Second case: a 32-year-old man presented, during appendectomy, with vegetant lesion on the apex of the appendix. The histopathological study revealed the presence of adenocarcinoma of the appendix. Right hemicolectomy with ganglion resection was performed. The patient does not present signs of recurring disease. Conclusion: The macroscopic and clinical similarity between adenocarcinoma of the appendix and acute appendicitis makes it important to check out histopathological study results. The cases above reinforce this requirement, as the authors have found adenocarcinoma of the appendix in young patients.

Penile carcinoma: Risk factors and molecular alterations

Penile carcinoma is a rare, male cancer. Although the incidence of penile carcinoma is very low in Western countries, in some countries, the incidence is significantly greater, with penile carcinoma accounting for ≤10% of all male malignancies. Greater insight has been gained in recent years as to its pathogenesis, the risk factors associated with its development, and the clinical and histological precursor lesions related to this disease. In this review, risk and conditions factors for penile carcinoma, molecular alterations in this type of cancer, histological types, and prognostic factors will be discussed in order to further our understanding of the biology and behavior of this cancer. ©2011 with author. Published by TheScientificWorld.

Intussuscepção ileocólica associada a torção mesentérica em um cão: Relato de caso

Mesenteric torsion is a rare disease in dogs whereas it is more common to affect large animals. The main clinical signs observed are acute, such as prostration and abdominal distension which evolve to a state of shock and death. This paper reports the mesenteric torsion in a dog that was presented to veterinary care with generalized acute abdominal pain of sudden onset. At the physical examination, signs of acute abdomen, rectal temperature of 35 oC, moderate dehydration, congested mucous membrane, and prostration were detected. Emergency therapy was instituted and radiographic and ultrasound examinations were requested. The radiography showed increase in the bowel diameter and an image suggestive of intussusception. The patient was referred to emergency exploratory laparotomy and obtained a definite diagnosis of ileocolic intussusception associated to mesenteric torsion. Due to the extent of intestinal dysfunction, the patient was euthanized on the operating table.