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Clinical, microscopic and imaging findings associated to Mccune-Albright syndrome: report of two cases
Xavier, Samuel Porfírio;Ribeiro, Michel Campos;Sicchieri, Luciana Gon?alves;Brentegani, Luiz Guilherme;Lacerda, Suzie Aparecida;
Brazilian Dental Journal , 2008, DOI: 10.1590/S0103-64402008000200014
Abstract: mccune-albright syndrome is characterized by the triad café-au-lait cutaneous spots, polyostotic fibrous dysplasia and endocrinopathies. this article presents two cases of mccune-albright syndrome in a middle-aged woman and a young girl. both patients presented café-au-lait spots on the face and other parts of the body and expansion of the mandible with radiopaque-radiolucent areas with ground-glass radiographic appearance, and were diagnosed as having fibrous dysplasia and endocrine disorders. the patient of case 1 had fibrous dysplasia on the upper and lower limbs, thorax, face and cranium, early puberty, hyperglycemia, hyperthyroidism and high serum alkaline phosphatase levels. the patient of case 2 presented lesions on the upper limbs and evident endocrine disorders. in both cases presented in this article, the initial exam was made because of the mandibular lesion. however, a diagnosis of fibrous dysplasia must lead to investigation of the involvement of other bones, characterizing polyostotic fibrous dysplasia, which is manifested in a number of diseases. an accurate differential diagnosis is mandatory to determine the best treatment approach for each case.
Joubert syndrome: magnetic resonance imaging findings  [PDF]
Sarikaya B,Akpinar E,Karli-Oguz K,Cil B
Neuroanatomy , 2004,
Abstract: Joubert syndrome is a rare posterior fossa malformation presenting with cerebellarand brainstem malfunction. Differential diagnosis should include other posterior fossamalformations. Typical magnetic resonance imaging (MRI) findings of Joubert syndromeincluding “molar tooth sign” and “batwing appearance” are discussed which strongly suggestthe diagnosis.
Intermediate pilomyxoid astrocytoma and diencephalic syndrome: imaging findings
Nakamura, Olavo Kyosen;Pinho, Marco da Cunha;Odone Filho, Vicente;Rosemberg, Sergio;
Einstein (S?o Paulo) , 2012, DOI: 10.1590/S1679-45082012000200020
Abstract: pilomyxoid astrocytoma, an entity described as a histological variant of pilocytic astrocytoma, is a rare primary tumor of the central nervous system. it is usually located in the hypothalamic-chiasmatic area, affecting children with a mean age of 10 months. it has a high rate of recurrence and cerebrospinal fluid dissemination, which may be present throughout the neuroaxis. due to its topography, it may present developmental delay in childhood and diencephalic syndrome, characterized by extreme weight loss, lack of fat accumulation, hyperactivity, euphoria and alertness. magnetic resonance imaging has an important role in its diagnosis, staging and follow-up of pilomyxoid astrocytoma. however, for a definitive diagnosis, anatomopathology is particularly important to differentiate it from pilocytic astrocytoma. some cases, as in this present one, have simultaneous histological features of pilocytic and pilomyxoid astrocytomas, constituting a group called intermediate pilomyxoid astrocytoma. surgery is the best treatment option and it usually requires adjuvant therapy.
Intermediate pilomyxoid astrocytoma and diencephalic syndrome: imaging findings
Olavo Kyosen Nakamura,Marco da Cunha Pinho,Vicente Odone Filho,Sergio Rosemberg
Einstein (S?o Paulo) , 2012,
Abstract: Pilomyxoid astrocytoma, an entity described as a histological variantof pilocytic astrocytoma, is a rare primary tumor of the centralnervous system. It is usually located in the hypothalamic-chiasmaticarea, affecting children with a mean age of 10 months. It has ahigh rate of recurrence and cerebrospinal fluid dissemination,which may be present throughout the neuroaxis. Due to itstopography, it may present developmental delay in childhood anddiencephalic syndrome, characterized by extreme weight loss, lackof fat accumulation, hyperactivity, euphoria and alertness. Magneticresonance imaging has an important role in its diagnosis, stagingand follow-up of pilomyxoid astrocytoma. However, for a definitivediagnosis, anatomopathology is particularly important to differentiateit from pilocytic astrocytoma. Some cases, as in this present one,have simultaneous histological features of pilocytic and pilomyxoidastrocytomas, constituting a group called intermediate pilomyxoidastrocytoma. Surgery is the best treatment option and it usuallyrequires adjuvant therapy.
Avulsion Fractures of the Knee: Imaging Findings and Clinical Significance
Babak Sanei
Iranian Journal of Radiology , 2010,
Abstract: The knee is an intricate joint with numerous tendinous, ligamentous, and meniscal attachments, which make it particularly vulnerable to complex injuries after trauma. A variety of avulsion fractures of the knee can occur, including Segond and reverse Segond fractures; avulsions of the anterior and posterior cruciate ligaments; arcuate complex avulsion; iliotibial band avulsion; avulsions of the biceps femoris, semimembranous, and quadriceps tendons; Sinding-Larsen-Johansson syndrome; and Osgood- Schlatter disease. These fractures often have a subtle appearance at conventional radiography, which is typically the first imaging modality performed in these cases. Advanced imaging modalities, particularly magnetic resonance imaging, are helpful and can provide valuable additional information for adequately defining the extent of damage. The onus is on the radiologist to identify the pattern of injury and to understand the substantial underlying damage that it frequently represents. Conveying this information to the referring clinician is crucial and represents the first step toward additional evaluation and probable orthopedic referral. By recognizing the significance of these injuries at initial presentation, radiologists can facilitate appropriate patient work-up and prevent the chronic morbidity associated with delayed treatment.
Clinical and Imaging Findings of True Hemifacial Hyperplasia  [PDF]
Bansari A. Bhuta,Archana Yadav,Rajiv S. Desai,Shivani P. Bansal,Vipul V. Chemburkar,Prashant V. Dev
Case Reports in Dentistry , 2013, DOI: 10.1155/2013/152528
Abstract: Congenital hemifacial hyperplasia is a rare developmental disorder of unknown etiology, characterized by a marked unilateral facial asymmetry. It involves the hard (bones and teeth) and soft tissues of the face. We report an interesting case of true hemifacial hyperplasia in a 25-year-old male highlighting the clinical and computed tomography imaging findings. 1. Introduction Congenital hemihyperplasia is a rare developmental disorder characterized by unilateral overgrowth of one or more body parts resulting in marked asymmetry. This phenomenon was first described by Meckel [1] in 1822 and first reported by Kottmeier and Wagner [2] in 1839. Rowe [3] in 1962 classified hemihypertrophy into (1) complex hemihypertrophy, involving the entire half of the body, (2) simple hemihypertrophy affecting one or both limbs, and (3) hemifacial hypertrophy. Depending on involvement of soft tissues, teeth, and bones, he further classified hemifacial hypertrophy into (a) true hemifacial hypertrophy and (b) partial hemifacial hypertrophy. True hemifacial hypertrophy exhibits unilateral enlargement of all tissues, teeth, bones, and soft tissues, characterized by viscerocranial enlargement, bounded by frontal bone superiorly (sparing the eye), inferior border of the mandible inferiorly, midline medially, and ear including the pinna laterally. In partial hemifacial hypertrophy not all structures are enlarged to the same degree or limited to one structure. We prefer to use the term congenital hemifacial hyperplasia although it is usually referred to as hemifacial hypertrophy. The term hyperplasia is more precise histologically, as all tissues show an increase in the number of cells rather than an increase in cell size [4]. The asymmetry usually remains constant with the end of adolescence, and as the skeletal maturation occurs the condition stabilizes thereafter. We report an interesting case of true hemifacial hyperplasia (THFH) in a 25-year-old male, discussing clinical features, imaging findings, and differential diagnosis in detail to supplement the current literature. 2. Case Report A 25-year-old male reported to our department for opinion regarding a massive, asymptomatic enlargement of the right half of the face since childhood (Figure 1). The asymmetry had increased with age and ceased to grow after 18 years of age. Family history was unavailable since he was an orphan. Medical examination did not reveal any other health issues. The patient had deferred treatment until now due to the lack of financial resources. Extraoral examination revealed a massive and diffuse
Clinical and Imaging Findings in 18 Patients with Eosinophilic Pneumonia
M. Bakhshayesh Karam,N. Montazami,S. Zahiri Fard,O. Tahbaz
Iranian Journal of Radiology , 2007,
Abstract: Background/Objective: Eosinophilic pneumonia is a rare cause of lung disease in adulthood. The relatively non-specific clinical presentations of this disease process make the diagnosis a unique challenge. Herein, we reported on clinical and radiological manifestations of this rare clinical entity in 18 patients. "nPatients and Methods: We retrospectively reviewed the medical records of 18 patients with acute eosinophilic pneumonia in Masih Daneshvari Medical Center. Diagnostic criteria were based on clinical, laboratory and imaging findings."nResults: The most clinical manifestations were cough and weight loss 15 (0.83) followed by dyspnea 13 (0.72). The most frequent imaging findings were diffuse opacities (reticulo-nodular or alveolar infiltration) in 11 (0.65), consolidation in six (0.33) and ground-glass opacities in four (0.28) patients."nConclusion: Diffuse rather than peripheral air-space opacities in imaging of a patient presented with dyspnea, cough, sputum, constitu-tional symptoms and eosinophilia should make us to think about eosinophilic pneumonia as one of differential diagnoses.
Silent Sinus Syndrome: Clinical Findings and Differential Diagnosis  [PDF]
Paolo Bossolesi, Barbara Pedruzzi, Enzo Emanuelli
Case Reports in Clinical Medicine (CRCM) , 2014, DOI: 10.4236/crcm.2014.35066
Abstract:

The Silent Sinus Syndrome (SSS) is a rare condition that causes facial asymmetry, unilateral enophthalmos and diplopia. It is thought to be secondary to chronic maxillary sinus atelectasis (CMA) with reabsorbed bone and subsequent displacement of the orbital floor. Such anatomic modifications occur over time, and therefore it is possible to encounter different stages of the same disease with or without orbital displacement. Clinical findings can be unclear so it makes sense to recognize potentially evolving SSS while other disturbances have to be ruled out. Our purpose is to underline clinical findings for different diagnosis and proper management. We consider Functional Endoscopic Sinus Surgery (FESS) indicated in CMA and SSS to halt the progression of the disease. Nevertheless restitution treatment of enophtalmos due to orbital floor displacement involves plastic reconstruction of the floor of the orbit via transconjunctival approach. We report a case of SSS and discuss distinctive features of non-neoplastic lesions involving the maxillary sinus that should be considered for differential diagnosis.

Sweet syndrome: Clinical and Laboratory Findings of 31 Cases  [PDF]
Serap Güne? Bilgili,Ay?e Serap Karada?,?mer ?alka,?rfan Bayram
Turkderm , 2013,
Abstract: Background and Design: Sweet syndrome is an inflammatory disease characterized by the abrupt onset of pain, red papules and plaques, fever, neutrophilic leukocytosis, and dermal neutrophilic infiltrate. There are not enough data about Sweet syndrome in Turkey. In this article, we studied clinical, laboratory, histopathological, and epidemiological characteristics of patients, who presented to our clinic, and compared the findings with the literature. Materials and Methods: All patients diagnosed with Sweet syndrome in our clinic between 2005 and 2011 were included in the study. The epidemiological, clinical, and laboratory findings were retrospectively evaluated. Results: A total of 31 patients with Sweet’s syndrome - 24 female (77.4%), 7 male (22.6%); aged 23-82 years – included in the study. The average age of the patients was 48 years. Cutaneous lesions were most frequently localized in the upper extremity. Conjunctivitis was the common systemic manifestation, followed by fever, arthralgia, and myalgia. The most common trigger factor was infections of the upper respiratory tract. In histopathological evaluations of skin biopsies, dense neutrophil infiltration compatible with Sweet syndrome was detected in the dermis. Also, findings of vasculitis were determined in 3 patients. Discussion: The clinical and laboratory findings in our study are mostly similar to those reported in the literature. We found evidence of vasculitis in 10% of cases, therefore, we think the presence of vasculitis does not necessarily rule out the diagnosis of Sweet syndrome
Imaging findings in an infant with congenital pulmonary venolobar syndrome (scimitar syndrome)
T Westgarth-Taylor, T Kilborn
South African Journal of Radiology , 2012,
Abstract: Congenital venolobar syndrome (CVLS) is a rare complex malformation that includes hypoplasia of the lung, partial anomalous pulmonary venous drainage and, in a quarter of patients, associated cardiac anomalies. We present the chest radiograph and multidetector CT findings in a case of congenital venolobar syndrome in an infant, and describe the history of the condition. SA JOURNAL OF RADIOLOGY February 2012
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