Cerebrotendinous xanthomatosis is a rare genetic disorder characterized by a decrease in activity of the hepatic sterol 27-hydroxylase involved in the cholesterol metabolism and excretion. Consequently, lipid (cholesterol/cholestanol) deposition is observed in different regions of the body, especially tendons, central nervous system and eye lens. The present report describes the cases of two sisters affected by this disease, highlighting the main imaging findings.

Keywords: Cerebrotendinous xanthomatosis, Xanthomatosis, Hypercholesterolemia, Magnetic resonance imaging, Computed tomography

Sacroiliitis is a non-infectious inflammatory process involving the sacroiliac joint, and is a diagnostic criterion for seronegative spondyloarthropathies. Imaging methods are of great value for confirming the diagnosis of this condition. The present study is a review of cases included in didactic files and in the literature to illustrate the anatomy, techniques, and main imaging findings in x-ray, computed tomography and magnetic resonance imaging for determining the diagnosis of sacroiliitis, also approaching main differential diagnoses.

Keywords: Sacroiliitis, Spondyloarthropathy, X-ray, Computed tomography, Magnetic resonance imaging

The authors present a review and iconographic study of patients with disseminated paracoccidioidomycosis, including the main radiographic findings seen in the central nervous system, adrenal glands, osteoarticular system, lymph nodes and digestive tract. Imaging diagnostic methods have allowed a more precise approach of these patients due to their high sensitivity in detecting lesions, even in asymptomatic patients. In most cases these abnormalities are unspecific, simulating either neoplasic or chronic infectious lesions, and sometimes difficult to distinguish from tuberculosis. Although these findings are nonspecific and only the mycologic and histologic fungus demonstration can confirm the diagnosis, they may suggest a presumptive one, when these imaging findings are considered in an appropriate clinical and epidemiological setting.

Keywords: Paracoccidioidomycosis, Central nervous system, Adrenals, Osteoarticular, Digestive, Lymph nodes

Fibrodysplasia ossificans progressiva is a rare hereditary connective tissue disease characterized by disseminated soft tissue ossification and congenital abnormality of the extremities. It is genetically inherited as a dominant trait with complete penetrance but variable expression. The onset takes place during childhood and the progressive involvement of the spine and proximal extremities leads to immobilization and articular deformity. We report a case of a 22-year-old male patient with typical symptoms of fibrodysplasia ossificans progressiva and discuss the new advances in the diagnosis and pathophysiology.

Keywords: Fibrodysplasia ossificans progressiva, Myositis ossificans progressiva, Pathophysiology, Ossification, X-rays

We report a case of two siblings with primary hypertrophic osteoarthropathy (pachydermoperiostosis). Pachydermoperiostosis represents only 3 to 5 per cent of all cases of hypertrophic osteoarthropathy. These patients presented long bone changes on conventional x-ray films including periosteal new bone formation and expansion of the diaphysis.

Keywords: Primary hypertrophic osteoarthropathy, Pachydermoperiostosis, Radiology

Cherubim is a non-neoplastic hereditary bone disease characterized by bilateral, painless enlargements of the mandible and maxilla in children, producing the cherubic appearance. Cherubism may appear as an isolated case or in members of the same family. We report the case of a girl without familial history of cherubism who presented expansile osteolytic lesions in the mandible and maxilla, demonstrated by radiological exams.

Keywords: Cherubism, Mandibular diseases, Radiology, Computed tomography

The melanotic neuroectodermal tumor of infancy, also known as progonoma, is a rare benign disease of neural crest origin that occurs within the first year of life and affects mainly the maxilla. The authors report a case of a 10-month-old child presenting with this uncommon tumor in the maxilla, emphasizing the diagnostic findings on computed tomography, and present a literature review.

Keywords: Neoplasia, Neural crest, Maxilla, Infancy, Computed tomography

Hypertrophic pyloric stenosis is a common condition in infants with 2 - 12 weeks of postnatal life. The cause of this disease remains obscure. Clinical diagnosis is based on the history of projectile, nonbilious vomiting, gastric hyperperistalsis and a palpable pyloric "tumor". The authors review the typical findings seen on upper gastrointestinal x-ray series and abdominal ultrasonography. The diagnostic criteria for hypertrophic pyloric stenosis are presented and the applications of these two methods are established on the basis of the current literature.

Keywords: Hypertrophic pyloric stenosis, Pylorus, Vomiting, Ultrasonography, Infants

Persistent hyperplastic primary vitreous (PHPV) is a congenital developmental anomaly of the eye that primarily affects premature infants. PHPV results from failure of regression of the embryogenic primary vitreous and hyaloid vasculature, and proliferation of connective tissue. Three types of PHPV may be found: anterior, posterior and a combination of anterior and posterior. The clinical findings include leukocoria (white pupillary reflex) and microphthalmic eye. This anomaly is usually unilateral and unassociated with other systemic findings. The differential diagnosis between PHPV and other ocular diseases may be difficult due to similar features such as leukocoria, detached retina, retinal folds and cataract. Other diseases with similar features include retinoblastoma, isolated congenital cataract, retinopathy of prematurity and pseudogliomas or leukocorias. Direct visualization of the remnants of the fetal hyaloid vascular system offers the best evidence of PHPV. However, diagnosis using the ophthalmoscope is sometimes impossible because of opaque tissues. In this circumstance an indirect visualization by ultrasound, computed tomography or magnetic resonance imaging may be useful. These imaging methods provide valuable information for the differentiation from other diseases, particularly retinoblastoma. The authors present a review of the literature and an iconographic study of the imaging findings in patients with PHPV.

Keywords: Persistent hyperplastic primary vitreous, Leukocoria, Hyaloid artery, Cloquet's canal

Sarcomatoid renal carcinoma is an aggressive neoplasm with clinical and radiological features similar to those of clear cell renal sarcomas. The tumor is formed by layers of malignant spindle cells that show immunohistochemical and ultrastructural characteristics of both stromal and epithelial cells, and may also contain mixoid areas of osteoclast-like giant cells, rhabdomyoblast-like pleomorphic cells as well as other rare sarcomatoid components. The authors report a case of sarcomatoid renal carcinoma in a 54-year-old male patient presenting with the classic clinical triad seen on patients with renal cell carcinomas. The typical macroscopic and microscopic features, imaging findings and differential diagnosis with true renal sarcomas are discussed.

Keywords: Renal cell carcinoma, Sarcomatoid renal carcinoma, Tumor metaplasia, Computed tomography, Ultrasonography

Callosal dysgenesis is a malformation of the corpus callosum with origins in the embryogenesis of the telencephalon. We reviewed the computed tomography and magnetic resonance imaging findings of 11 patients with callosal dysgenesis and one patient with normal corpus callosum associated with a lipoma. The patients were divided into three distinct groups: total agenesis (three patients), partial agenesis (six patients) and hypoplasia (two patients). Associated abnormalities were observed in nine patients, including Chiari II malformation (one patient), schizencephaly (one patient), interhemispheric cyst (two patients), Dandy-Walker cyst (one patient), nodular heterotopy (one patient) and lipoma of the corpus callosum (four patients). This paper presents a review that may contribute to the diagnosis of these disorders.

Keywords: Dysgenesis of the corpus callosum, Brain malformation, Developmental anomalies, Lipoma of the corpus callosum

Persistent left superior vena cava with absent right superior vena cava is a rare anomaly, with less than 150 cases reported in the literature. Congenitally persistent left superior vena cava is the most common variant of systemic venous return to the heart, resulting embryologically from failure of the left anterior cardinal vein to become obliterated. Its incidence varies from 0.3% in patients with otherwise normal heart to 4.3% in patients with congenital heart disease. In the majority of the patients, a right superior vena cava is present as well, but rarely the right anterior cardinal vein degenerates resulting in the absence of the normal right superior vena cava. The blood from the right side is carried by the persistent left superior vena cava to the right atrium through the coronary sinus. We report the case of a patient with a persistent left superior vena cava and absence of right superior vena cava identified by chance during a chest radiograph and computed tomography examination for investigation of chronic pulmonary obstructive disease. The patient had no congenital heart disease and the blood from the right side was drained by the persistent left superior vena cava into the right atrium through the coronary sinus.

Keywords: Persistent left superior vena cava, Absent right superior vena cava, Chest radiography, Computed tomography

The terms medullary cystic disease, juvenile nephronophthisis or medullary cystic disease complex refer to a group of similar diseases in which the basic pathological abnormality is progressive renal tubular atrophy with secondary glomerular sclerosis and medullary cystic formation. Medullary cystic disease is an important cause of renal failure in adolescent patients. Imaging methods play a primary role in the diagnosis of these diseases. Cysts are characteristically seen in the renal medulla and corticomedullary junction whereas kidneys may be of normal to small size. In this article we present the ultrasonography and computed tomography findings of a female adolescent patient with characteristic clinical picture of medullary cystic disease.

Keywords: Familial juvenile nephronophthisis, Ultrasonography, Computed tomography

Tracheobronchomegaly is a rare condition of uncertain etiology characterized by marked dilatation of the trachea and main bronchi, bronchiectasis and recurrent respiratory tract infections. Clinical presentation is nonspecific and the diagnosis is usually made by imaging methods. We report a case of a patient with tracheobronchomegaly. Diagnosis was confirmed by plain x-ray films and computed tomography of the chest.

Keywords: Tracheobronchomegaly, Mounier-Kuhn syndrome, Computed tomography

The authors report two cases of pulmonary alveolar microlithiasis affecting monozygotic twins. The main findings observed on plain x-ray films and high-resolution computed tomography are discussed and compared with data from a brief literature review.

Keywords: Lungs, Pulmonary alveolar microlithiasis, Computed tomography

Fibrovascular polyp of the esophagus is a rare, pedunculated, intraluminal, benign tumor. We describe a case of a patient with a fibrovascular polyp of the esophagus and discuss the esophagogram and computed tomography findings. Due to the excellent correlation between pathology and imaging findings, computed tomography and magnetic resonance imaging are considered specific and useful in its diagnosis.

Keywords: Fibrovascular polyp, Esophagus, Computed tomography

We report a case of a 2 years and 8 months-old child with the recessive form of craniometaphyseal dysplasia. Clinical and radiological features as well as the main differential diagnosis are discussed and compared with data from a brief literature review.

Keywords: Craniometaphyseal dysplasia, Bone dysplasia, Bone sclerosis, Nasal obstruction