New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment.

BACKGROUND: Gonadal dysgenesis with minifascicular neuropathy (GDMN) is a rare autosomal recessive condition associated with biallelic DHH pathogenic variants. In 46, XY individuals, this disorder is characterized by an association of minifascicular neuropathy (MFN) and gonadal dysgenesis, while in 46, XX subjects only the neuropathic phenotype is present. Very few patients with GDMN have been reported so far. We describe four patients with MFN due to a novel DHH likely pathogenic homozygous variant and the results of nerve ultrasound assessment. METHODS: This retrospective observational study included 4 individuals from 2 unrelated Brazilian families evaluated for severe peripheral neuropathy. Genetic diagnosis was performed with a peripheral neuropathy next-generation sequencing (NGS) panel based on whole exome sequencing focused analysis that included a control SRY probe to confirm genetic sex. Clinical characterization, nerve conduction velocity studies, and high-resolution ultrasound nerve evaluation were performed in all subjects. RESULTS: Molecular analysis disclosed in all subjects the homozygous DHH variant p.(Leu335Pro). Patients had a striking phenotype, with marked trophic changes of extremities, sensory ataxia, and distal anesthesia due to a sensory-motor demyelinating polyneuropathy. One 46, XY phenotypically female individual had gonadal dysgenesis. High-resolution nerve ultrasound showed typical minifascicular formation and increased nerve area in at least one of the nerves assessed in all patients. CONCLUSION: Gonadal dysgenesis with minifascicular neuropathy is a severe autosomal recessive neuropathy characterized by trophic alterations in limbs, sensory ataxia, and distal anesthesia. Nerve ultrasound studies are very suggestive of this condition and may help to avoid invasive nerve biopsies.

Morphometric vertebral fracture risk in women with postsurgical hypoparathyroidism.

Introduction: Hypoparathyroidism (HP) is a rare endocrine disease and there are little data available on the risk of fragility fractures in these patients. PTH deficiency results in a positive bone balance with higher bone mass in all skeletal sites. However, whether these structural and dynamic skeletal changes have a negative impact on the fracture risk, it is not known. Methods: Aiming to investigate the risk of insufficiency vertebral fractures in HP, defined using morphometric criteria, a consecutive sampling of 44 women with chronic postsurgical HP was compared to a control group of 44 adult healthy women, matched by age with patients. Vertebral fractures were analyzed by the semiquantitative Genant's method followed by quantitative vertebral morphometry. Results: Morphometric vertebral fractures were identified in 5/44 (11.4%) patients and in 3/44 (6.8%) controls (p=0.731). Most fractures were classified as Genant II and III grades in HP patients, whereas most were Genant I in controls. A logistic regression multivariate analysis was conducted in which age, BMI and parathyroid status were the independent variables, and morphometric vertebral fracture was the dependent variable, but none of these factors was a significant predictor of fracture in this population (OR 1.01, 95% CI 0.96-1.07, p=0.634 for age; OR 2.24, 95%CI 0.47-10.50, p=0.306 for the presence/absence of HP and OR 0.92, 95% CI 0.76-1.10, p=0.369 for BMI). Conclusion: The results of this study cannot ensure a higher risk of fragility vertebral fractures in postsurgical HP patients. Instead, we only observed higher Genant grade classification of the deformed vertebrae in our sample.

Wernicke's encephalopathy in a patient with non-Hodgkin's lymphoma post-Autologous HSCT.

Wernick's Encephalopathy (WE) is an acute neuropsychiatric syndrome caused by thiamine deficiency post hematopoietic stem cell transplant (HSCT). WE is associated with high mortality and morbidity rates, but due to its rare occurrence, it is rarely considered in patients submitted to this procedure. Considering that, the manuscript reports the clinical characteristics and the possible factors that predisposed the occurrence of WE in a patient with non-Hodgkin's lymphoma post-Autologous HSCT. We conclude that WE should be considered in patients submitted to autologous HSCT associated with prolonged use of TPN and malnutrition.

Wernicke's encephalopathy in a patient with non-Hodgkin's lymphoma post-Autologous HSCT

SUMMARY Wernick's Encephalopathy (WE) is an acute neuropsychiatric syndrome caused by thiamine deficiency post hematopoietic stem cell transplant (HSCT). WE is associated with high mortality and morbidity rates, but due to its rare occurrence, it is rarely considered in patients submitted to this procedure. Considering that, the manuscript reports the clinical characteristics and the possible factors that predisposed the occurrence of WE in a patient with non-Hodgkin's lymphoma post-Autologous HSCT. We conclude that WE should be considered in patients submitted to autologous HSCT associated with prolonged use of TPN and malnutrition.

Ossifying fibroma: an uncommon differential diagnosis for T2-hypointense sinonasal masses.

Ossifying fibroma is a benign fibro-osseous lesion that occurs most commonly in the mandible of female patients. In rare cases, it affects the nasal cavity. The magnetic resonance imaging features may vary depending on the amount of fibrous and bony tissue in its composition. In these tumors, T2-hypointensity is a feature described in the peripheral ossified areas of the lesion, but it may present diffusely, especially when the degree of ossification is extensive. In this scenario, this particular characteristic on T2-weighted imaging is superimposable to the commonly described appearance of other lesions, such as non-Hodgkin's lymphoma, melanoma, and other sinonasal neoplasms with high cellularity and high nucleocytoplasmic ratio. In the present study, we report a case of ossifying fibroma of the nasal cavity that presented as a diffusely and homogeneously T2-hypointense mass, a finding that may cause difficulty in the differential diagnosis with other expansive sinonasal lesions.

Pyle disease (metaphyseal dysplasia) presenting in two adult sisters.

Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. In the medical literature, fewer than 30 cases have been described to date. We report the case of two female siblings, daughters of consanguineous parents, referred to the radiology department complaining of genu valgum. Laboratory tests showed no other relevant findings. Conventional radiography plain films revealed Erlenmeyer flask deformity in bilateral femorotibial metaphyses, metaphyseal flaring of long bones, and mild sclerosis of the skull base. The clinicoradiological dissociation, along with the characteristic imaging findings, was consistent with the diagnosis of Pyle's disease. Intervention is not required in most cases, but orthopedic treatment may be required for genu valgum or fractures. Therefore, these cases emphasize the pivotal role conventional radiography plays in the correct diagnosis of this rare entity, allowing for appropriate genetic counseling.

Rendu-Osler-Weber syndrome: what radiologists should know. Literature review and three cases report / Síndrome de Rendu-Osler-Weber: o que o radiologista precisa saber. Revisão da literatura e apresentação de três casos

Rendu-Osler-Weber syndrome or hereditary hemorrhagic telangiectasia is an autosomal dominant vascular disease involving multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Most common symptoms include skin and mucosal telangiectasias, epistaxis, gastrointestinal, pulmonary and intracerebral bleeding. The key imaging finding is the presence of visceral arteriovenous malformations. The diagnosis is based on clinical criteria and can be confirmed by molecular biology techniques. Treatment includes measures for management of epistaxis, as well as surgical excision, radiotherapy and embolization of arteriovenous malformations, with emphasis on endovascular treatment. The present pictorial essay includes a report of three typical cases of this entity and a literature review.

A síndrome de Rendu-Osler-Weber ou teleangiectasia hemorrágica hereditária é uma doença vascular autossômica dominante com acometimento de múltiplos sistemas, cujo principal achado patológico é a presença de comunicações arteriovenosas anômalas. Os sintomas mais comuns são teleangiectasias cutaneomucosas e epistaxe, além de sangramento pulmonar, gastrintestinal e intracerebral. O principal achado evidenciado nos métodos de diagnóstico por imagem é a presença de malformações arteriovenosas viscerais. O diagnóstico é realizado por meio de critérios clínicos e pode ser confirmado por técnicas de biologia celular. O tratamento inclui medidas para controle da epistaxe, bem como remoção cirúrgica, radioterapia e embolização das malformações arteriovenosas, com destaque para o tratamento endovascular. Neste ensaio, apresentamos três casos típicos desta entidade com revisão da literatura.

Fracture of the fabella: a rare injury in knee trauma.

We present a case of a 21-year-old woman sustaining a traumatic [fabellar] fracture following a motor vehicle accident. The fabellar fracture was confirmed on plain films, which prompted further evaluation of the knee with ultrasound and magnetic resonance imaging to evaluate other possible associated injuries. Fracture of the fabella is a rare condition. Clinically, patients present with posterolateral knee pain, edema, and limited knee extension. Occasionally these symptoms may be very subtle, delaying the correct diagnosis and patient management.

Tumores neuroendócrinos do pulmão: principais achados radiológicos em uma série de 22 casos com confirmação anatomopatológica / Neuroendocrine tumors of the lung: major radiologic findings in a series of 22 histopathologically confirmed cases

OBJETIVO: Descrever os principais achados de imagem em uma série de casos de tumores neuroendócrinos primários do pulmão (TNPs), destacando as alterações na tomografia computadorizada. MATERIAIS E MÉTODOS: Exames de 22 pacientes (12 homens, idade média de 60 anos) avaliados nos últimos cinco anos em nosso serviço, com confirmação histopatológica, foram retrospectivamente revistos por dois médicos radiologistas e os achados foram descritos em consenso, focando as alterações tomográficas. RESULTADOS: Descrevemos 5 carcinoides típicos, 3 carcinoides atípicos, 3 carcinomas neuroendócrinos de grandes células (CNGCs) e 11 cânceres pulmonares de pequenas células (CPPCs). Apenas um carcinoide típico apresentou aspecto característico de nódulo endobrônquico central com atelectasia pulmonar distal, enquanto os demais foram nódulos ou massas pulmonares. Os carcinoides atípicos eram massas pulmonares periféricas e heterogêneas. Um CNGC era massa periférica delimitada e homogênea, enquanto os demais eram mal delimitados e heterogêneos. Os 11 CPPCs eram massas centrais, infiltrativas e heterogêneas, com alterações pleuropulmonares secundárias. Calcificações estavam ausentes nos CNGCs e CPPCs. Metástases foram vistas inicialmente ou no seguimento de todos os CNGCs e CPPCs. CONCLUSÃO: Apesar de alguns aspectos semelhantes nos exames de imagem, os achados radiológicos, quando integrados às informações clínicas, podem constituir critérios importantes na diferenciação dos tipos histológicos de TNPs.

OBJECTIVE: To describe key imaging findings in a series of cases of primary neuroendocrine tumors of the lung (NTLs), with emphasis on computed tomography changes. MATERIALS AND METHODS: Imaging studies of 22 patients (12 men, mean age 60 years) with histopathologically confirmed diagnosis, evaluated in the authors's institution during the last five years were retrospectively reviewed by two radiologists, with findings being consensually described focusing on changes observed at computed tomography. RESULTS: The authors have described five typical carcinoids, three atypical carcinoids, three large-cell neuroendocrine carcinomas (LCNCs), and 11 small-cell lung cancers (SCLCs). Only one typical carcinoid presented the characteristic appearance of central endobronchial nodule with distal pulmonary atelectasis, while the others were pulmonary nodules or masses. The atypical carcinoids corresponded to peripheral heterogeneous masses. One out of the three LCNCs was a peripheral homogeneous mass, while the others were ill-defined and heterogeneous. The 11 SCLCs corresponded to central, infiltrating and heterogeneous masses with secondary pleuropulmonary changes. Calcifications were absent both in LGNCs and SCLCs. Metastases were found initially and also at follow-up of all the cases of LCNCs and SCLCs. CONCLUSION: Although some imaging features may be similar, radiologic findings considered together with clinical information may play a relevant role in the differentiation of histological types of NTLs.

Avaliação por imagem dos gossipibomas abdominais / Imaging findings of abdominal gossypibomas

O termo gossipiboma é usado para descrever uma massa formada a partir de uma matriz de algodão cercada por uma reação inflamatória/granulomatosa. Sua incidência é estimada em 0,15 por cento a 0,2 por cento. O corpo estranho na cavidade abdominal pode servir de nicho para a proliferação de microrganismos e agir como foco primário para formação de abscessos e de peritonite. Vários estudos têm demonstrado a importância da correlação clínica com os diversos métodos de imagem (radiografia convencional, ultrassonografia, tomografia computadorizada e ressonância magnética) no diagnóstico dos gossipibomas. Este ensaio tem por objetivo demonstrar uma série de casos típicos de gossipibomas abdominais e ilustrar suas diversas formas de apresentação, com ênfase nos achados dos diferentes métodos de imagem, visando a familiarizar os radiologistas com esta enfermidade e seus principais diagnósticos diferenciais.

Gossypiboma is a term utilized to describe a mass developed from a matrix of cotton fibers surrounded by inflammatory granulomatous reaction. Its incidence is estimated at 0.15 percent to 0.2 percent of laparotomies. A foreign body within the abdominal cavity may provide a niche for proliferation of microorganisms, acting as primary focus for development of an abscess and peritonitis. Several studies have demonstrated the relevance of clinical correlation with the findings of different imaging methods (conventional radiography, ultrasonography, computed tomography and magnetic resonance imaging) in the diagnosis of gossypibomas. The present pictorial essay is aimed at demonstrating a series of typical cases of abdominal gossypibomas and illustrating the several presentations of such mass, with emphasis on the findings at different imaging methods in order to familiarize radiologists with this entity and with the main differential diagnosis.

Avaliação e seguimento de pacientes adultos com síndrome do intestino curto pelo exame contrastado de trânsito intestinal / Barium follow through in the assessment and follow-up of adult patients with short bowel syndrome

A síndrome do intestino curto é definida pela incapacidade da superfície do intestino delgado em manter as condições adequadas de absorção de nutrientes, ocasionando deficiências nutricionais. Em adultos, as principais causas de síndrome do intestino curto são as ressecções cirúrgicas amplas ou múltiplas, secundárias a infarto mesentérico, doença de Crohn e enterite actínica. Além de avaliar o tempo de trânsito até o intestino grosso, o exame contrastado de trânsito intestinal pode ser utilizado na medição da extensão do intestino remanescente e no acompanhamento dos fenômenos de adaptação estrutural das alças delgadas e colônicas. Em pacientes com síndrome do intestino curto, a adaptação estrutural do intestino delgado consiste na hiperplasia das vilosidades e das pregas mucosas, que se tornam mais numerosas, profundas e de maior diâmetro, assim como a dilatação do segmento remanescente. Esses achados morfológicos são mais pronunciados e bem estabelecidos nas alças ileais, evidenciando sua maior capacidade adaptativa. O conhecimento dos achados por imagem das características morfológicas e adaptativas do intestino delgado é de grande importância na abordagem multidisciplinar da síndrome do intestino curto.

Short bowel syndrome is defined as the small bowel functional absorptive surface inability to provide adequate nutrition, leading to intestinal failure and chronic malnutrition. In adult individuals the main etiologies for short bowel syndrome are related to extensive or multiple surgical bowel resections secondary to mesenteric ischemia, Crohn's disease and actinic enteritis. Besides evaluating the transit time through the large bowel, barium follow through may be utilized in the measurement of bowel remnants length as well as in the follow-up of structural adaptation phenomena of small bowel and colonic loops. In patients with short bowel syndrome, structural small bowel adaptation consists in hyperplasia of villi and mucosal folds, which become more numerous, deeper and larger in diameter, as well as remnant segment dilation. Such morphological findings are more prominent and best established in the ileal loops, whose remarkable adaptive capacity has been well documented. Therefore, the knowledge of imaging findings regarding morphological and adaptive characteristics of the small bowel is extremely relevant in the multidisciplinary approach to short bowel syndrome.

A importância do diagnóstico por imagem na classificação dos endoleaks como complicação do tratamento endovascular de aneurismas aórticos / The value of diagnostic imaging in the classification of endoleaks as a complication of endoluminal grafting of aortic aneurysms

OBJETIVO: Relatar uma série de casos de endoleaks, com descrição da classificação vigente. MATERIAIS E MÉTODOS: Realizou-se um estudo retrospectivo dos endoleaks diagnosticados em nossa instituição, entre 2005 e 2009. Foram incluídos 20 casos, utilizados para ilustrar os diferentes tipos de endoleaks. RESULTADOS: Setenta por cento dos pacientes eram do sexo masculino. A idade variou entre 43 e 91 anos, média de 76,3 anos. Treze casos foram observados na aorta abdominal infrarrenal, quatro na aorta torácica, dois nas artérias ilíacas e um no território carotídeo. A ultrassonografia foi o método utilizado para o diagnóstico em 3 casos e a tomografia computadorizada, nos outros 17 casos. Classificação: tipo I, 60 por cento; tipo II, 25 por cento; tipo III, 15 por cento. Não foram observados os demais tipos nesta série. CONCLUSÃO: O diagnóstico precoce e a correta classificação são fundamentais para o manejo adequado dos casos de endoleaks, tornando o conhecimento de seus subtipos conceito fundamental na formação do médico especialista em radiologia e diagnóstico por imagem e para o cirurgião vascular.

OBJECTIVE: To describe a series of endoleak cases and their respective classification. MATERIALS AND METHODS: The authors developed a retrospective study of endoleaks diagnosed at their institution in the period between 2005 and 2009. Twenty cases were included to illustrate the different types of endoleaks. RESULTS: Seventy percent of the patients were men, and the ages ranged from 43 to 91 years (mean, 76.3 years). Thirteen cases were observed in the infrarenal abdominal aorta, four in the thoracic aorta, two in the iliac artery, and one in the carotid territory. Ultrasonography was the method utilized for diagnosis in three cases, and computed tomography in the other 17 cases. Classification: 60 percent type I, 25 percent type II, 15 percent type III. Other endoleak types were not observed in the present series. CONCLUSION: Early diagnosis and correct classification of endoleaks are crucial for an appropriate management of cases. The knowledge of endoleaks subtypes is fundamental in the education of physicians specialized in radiology and imaging diagnosis as well as for vascular surgeons.