scholarly journals Anti-IgLON5 Disease: A Case With 11-Year Clinical Course and Review of the Literature

2019 ◽  
Vol 10 ◽  
Author(s):  
Mette Scheller Nissen ◽  
Morten Blaabjerg
2004 ◽  
Vol 128 (2) ◽  
pp. 210-213 ◽  
Author(s):  
Peter M. Voorhees ◽  
Kathryn A. Carder ◽  
Scott V. Smith ◽  
Lanier H. Ayscue ◽  
Kathleen W. Rao ◽  
...  

Abstract Follicular lymphoma is an indolent lymphoma characterized by the (14;18) translocation, which leads to aberrant expression of Bcl-2. Translocations involving 8q24 are most commonly associated with Burkitt lymphoma and result in c-Myc overexpression. We report a case of follicular lymphoma of predominant small cleaved-cell type (grade 1) associated with both a t(14;18)(q32;q21) and a t(8;22)(q24;q11). The 8q24 translocation predicted an aggressive clinical course, as the lymphoma transformed into acute lymphoblastic leukemia within a year of initial diagnosis. Routine cytogenetic analysis is recommended at initial diagnosis of follicular lymphoma to better identify abnormalities that may predict prognosis and influence therapy.


2018 ◽  
Vol 9 ◽  
pp. 215265671876422 ◽  
Author(s):  
Theodore A. Schuman ◽  
Adam J. Kimple ◽  
Claire H. Edgerly ◽  
Charles S. Ebert ◽  
Adam M. Zanation ◽  
...  

Background Epithelial-myoepithelial carcinoma (EMC) is a rare tumor of the major and minor salivary glands. Sinonasal EMC is extremely uncommon and hitherto not described within the frontal or ethmoid sinuses. Objective To present a novel sinonasal subsite and review the literature regarding sinonasal EMC. Methods A case of frontoethmoidal EMC was presented. A medical literature data base was queried from January 1, 1950, to August 8, 2017, for all reports of sinonasal EMC. Results A 69-year-old man underwent combined open and endoscopic craniofacial resection of a right frontoethmoidal EMC, a previously undescribed primary location for this tumor. A comprehensive review of the literature revealed 13 additional cases of sinonasal EMC. Conclusion EMC is an uncommon neoplasm typically found in the major salivary glands; occurrence in the nose or paranasal sinuses is extremely rare. EMC often follows an indolent clinical course, although, in a minority of cases, particularly in large tumors with nuclear atypia, more aggressive behavior may be observed.


1998 ◽  
Vol 77 (1) ◽  
pp. 51-55 ◽  
Author(s):  
Jose A. Bonilla ◽  
Michael P. Pizzuto ◽  
Linda S. Brodsky

Aplasia of the epiglottis is a rare laryngeal anomaly. We present a case of absence of the epiglottis in a child whose clinical course has been followed for nine years. She required a tracheostomy at two years of age for obstructive sleep apnea which resulted in heart failure; she was eventually decannulated at age seven. This case report highlights the clinical challenges faced in the identification and treatment of the sequelae of this defect. Both endoscopic and computed tomography (CT) documentation are provided. Embryological development and a review of the literature are also discussed.


2012 ◽  
Vol 16 (6) ◽  
pp. 438-441 ◽  
Author(s):  
Efstathios Rallis ◽  
Chrysovalantis Korfitis

Background: Granulomatous rosacea is considered a clinical variant of rosacea and is characterized by hard yellow, brown, red or flesh-colored cutaneous papules or nodules that may be severe and may lead to scarring. The lesions typically appear on the cheeks and periorificial lesions; they are monomorphic in each patient and sit on relatively normal-appearing skin. The diagnosis should be established by excluding other granulomatous disorders and rosacea-like eruptions such as sarcoidosis, tuberculosis, and lupus miliaris disseminatus faciei. The clinical course is chronic and unpredictable, and management can be very difficult. Case Report: We report the case of a 28-year-old female with granulomatous rosacea who responded successfully to oral isotretinoin. No recurrence was noticed 6 months after the completion of treatment. Renseignements de base: La rosacée granulomateuse est considérée comme une variante clinique de la rosacée et est caractérisée par la présence de papules cutanées jaunes, brunes, ou fleshed-colored rouges dures ou par de nodules qui peuvent être graves et qui peuvent causer des cicatrices. Les lésions sont généralement localisées aux joues et sur les lésions péri-orificielles; elles sont monomorphes chez chaque patient individuel et elles siègent sur une peau d'apparence relativement normale. Le diagnostic doit être établi en excluant les autres troubles granulomateux et les éruptions rosacéiformes comme la sarcoïdose, la tuberculose, et la tuberculide papulonodulaire. L'évolution clinique est chronique et imprévisible, et la gestion peut être très difficile. Rapport de cas: Nous rapportons le cas d'une femme âgée de 28 ans présentant une rosacée granulomateuse qui a été traité avec succès avec l'isotrétinoïne administrée par voie orale. Aucune récidive n'a été observée 6 mois après la fin du traitement.


2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Paolo Petruzzelli ◽  
Roberto Zizzo ◽  
Elisabetta Tavassoli ◽  
Miriam Sutera ◽  
Michela Chiadò Fiorio Tin ◽  
...  

Colorectal cancer (CRC) during pregnancy presents an estimated incidence of 1 : 13,000, and it is associated with diagnostic and therapeutic challenges. Here, we present the case of a 38-year-old woman, 25 weeks and 5 days pregnant, who was transferred to our Obstetrics and Gynecology Department from a local hospital with the diagnosis of intestinal obstruction. Magnetic Resonance Imaging (MRI) showed marked distension with hydroaerial levels of the enterocolic loops upstream of a concentric parietal thickening of the descending colon, stenosing, extended longitudinally for about 4 cm. An exploratory laparotomy was performed with resection of the colon splenic flexure and mechanical end-terminal anastomosis. Histological examination of the operating piece highlighted the presence of moderately differentiated (G2) colon adenocarcinoma (stage pT3N1b). The operation was followed by a single course of oxaliplatin and 5-FU plus leukovorin. The patient had a vaginal delivery at 37   weeks + 2 days of gestational age, following induction of labor and giving birth to a male infant whose weight was 2670 gr with apgar 9/9. We underline the pivotal role of attention to unspecific symptoms, early diagnosis, and active treatment in changing the clinical course of CRC.


2018 ◽  
Vol 2018 ◽  
pp. 1-6
Author(s):  
George Vasquez-Rios ◽  
Lesly Calixto-Aguilar ◽  
Richard Pajuelo ◽  
Wilder Alarcon

Introduction. Thoracic empyema is an infrequent complication of appendicitis that has rarely been reported in the literature. Case Presentation and Review of the Literature. The case of a 11-year-old boy who was admitted for medical management of an appendicular mass is presented. His clinical course was complicated by the development of an appendicular abscess and an extensive right-sided empyema. A comprehensive review of the literature was conducted including the most representative cases. The data were collected and analyzed by two independent investigators. Ten cases were found. Most patients were young individuals (mean age: 25.1 years; male : female ratio: 0.5). Risk factors for thoracic empyema included pregnancy (10%) and age (60%). The most frequent organisms isolated were Escherichia coli, Bacteroides spp., and Klebsiella spp. The survival rate was 100%. Conclusion. Thoracic empyema should be considered a potential cause of respiratory distress in patients with appendicitis. Furthermore, the abdomen should be carefully evaluated as a source of infection in patients with thoracic empyema without an underlying lung disease.


2009 ◽  
Vol 21 (2) ◽  
pp. 215-218 ◽  
Author(s):  
M. Berretta ◽  
E. Zanet ◽  
R. Taibi ◽  
F. Martellotta ◽  
P. Pavone ◽  
...  

2015 ◽  
Vol 35 (4) ◽  
pp. 354-361 ◽  
Author(s):  
M. Kuleva ◽  
J. Le Bidois ◽  
A. Decaudin ◽  
E. Villain ◽  
N. Costedoat-Chalumeau ◽  
...  

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Jun Yang ◽  
Jun Zhang ◽  
Qin Xu ◽  
Guo-ping Sheng ◽  
Wan-wen Weng ◽  
...  

Context. To report a patient with hyperthyroidism who developed concurrent occurrence of agranulocytosis and severe hepatotoxicity after taking methimazole (MMI).Case. A 51-year-old Chinese male was diagnosed as hyperthyroidism with normal white blood count and liver function. After 4 weeks’ treatment with MMI 20 mg/d, it developed to agranulocytosis and severe cholestatic hepatotoxicity. The patient’s symptoms and laboratory abnormalities disappeared after the withdrawal of MMI; his white blood count and liver function recover to normal in 2 weeks and 5 weeks, respectively. 296 MBq dose of131I was given to the patient 3 weeks after the withdrawal of MMI and his thyroid function was back to normal in 6 months. As we know through literature review, only 5 previous cases reported the synchronous ATD-induced agranulocytosis and severe hepatotoxicity in patients with hyperthyroidism.Methods. Review of the patient’s clinical course. Literature review of cases of hyperthyroidism with agranulocytosis and severe hepatotoxicity demonstrated that these complications occurred after taking antithyroid drug (ATD).Conclusions. Patient with hyperthyroidism can have synchronous ATD-induced agranulocytosis and severe hepatotoxicity. This case is extremely rare, but the adverse effects with ATDs is clinically significant. The clinicians need to be careful about this and monitor biochemical of patients who take ATDs.


2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
P. R. Thippeswamy Naik ◽  
Prem Kumar ◽  
P. Vinod Kumar

Primary liver liposarcoma is a rare disease. The knowledge of the clinical course, management, and prognosis of primary liver liposarcoma are all limited because of its rarity. Twelve cases of primary liposarcoma of the liver have been previously reported. We present the thirteenth case, which occurred in an adult male patient. A 42-year-old male patient came to our outpatient department with complaints of pain abdomen, mass per abdomen, and weight loss. Ultrasonography showed a mass arising from the the left lobe of liver. CT abdomen showed a heterogenous enhancing mass from left lobe of liver with multiple cystic and necrotic areas compressing the stomach and spleen with no evidence of metastasis. Differential diagnosis included adenoma and primary malignancy. Exploratory laparotomy and resection were done. HPE was found to be pleomorphic liposarcoma of liver.


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