X-Linked Adrenoleukodystrophy: Report of an atypical case

Author(s):  
Lúcia Fadiga ◽  
Joana Saraiva ◽  
Diana Catarino ◽  
Guiomar Joana Reis ◽  
Festas Silva Diana Alexandra ◽  
...  
Keyword(s):  
2010 ◽  
Vol 41 (02) ◽  
Author(s):  
T Polster ◽  
C Thiels ◽  
S Axer ◽  
G Classen ◽  
A Hofmann-Peters ◽  
...  

2020 ◽  
Vol 15 (2) ◽  
pp. 56-58
Author(s):  
Shafiqur Rahman ◽  
B Ahmed ◽  
ATM Mowladad Chowdhury ◽  
Mirza M Hasan ◽  
Sayedul Islam

A forty eight year old woman with the clinical diagnosis of renal mass due to renal cell carcinoma was found to have renal tuberculosis. The clinical presentation and management are being discussed. Bangladesh Journal of Urology, Vol. 15, No. 2, July 2012 p.56-58


2021 ◽  
Vol 07 (03) ◽  
pp. e124-e126
Author(s):  
Mark Portelli ◽  
Mark Bugeja ◽  
Charles Cini

Abstract Purpose Bochdalek's hernia is a type of congenital diaphragmatic hernia occurring secondary to a defect in the posterior attachment of diaphragm. This condition commonly presents with respiratory insufficiency in infants. To date, there are less than 100 cases of Bochdalek's hernia presenting in adults published in the literature. The mainstay treatment of Bochdalek's hernia involves reduction of hernial contents back into the peritoneal cavity with a tensionless graft repair closing the diaphragmatic defect. Case Presentation We present an atypical case of the Bochdalek hernia presenting in a previously healthy 16-year-old male who presented to the Accident and Emergency department with a 2-day history of dysphagia and loss of breath. The Bochdalek hernia was confirmed on computed tomography (CT) imaging and the patient underwent surgical repair with Gore-Tex mesh. Conclusion The report shows a rare case of the Bochdalek hernia in a young adult, successfully managed with a laparotomy.


2021 ◽  
pp. 464-469
Author(s):  
Dominik Péus ◽  
Dominik Straumann ◽  
Alexander Huber ◽  
Christopher J. Bockisch ◽  
Vincent Wettstein

Downbeat nystagmus (DBN) observed in head-hanging positions, may be of central or peripheral origin. Central DBN in head-hanging positions is mostly due to a disorder of the vestibulo-cerebellum, whereas peripheral DBN is usually attributed to canalolithiasis of an anterior semicircular canal. Here, we describe an atypical case of a patient who, after head trauma, experienced severe and stereotypic vertigo attacks after being placed in various head-hanging positions. Vertigo lasted 10–15 s and was always associated with a robust DBN. The provocation of transient vertigo and DBN, which both showed no decrease upon repetition of maneuvers, depended on the yaw orientation relative to the trunk and the angle of backward pitch. On a motorized, multi-axis turntable, we identified the two-dimensional Helmholtz coordinates of head positions at which vertigo and DBN occurred (<i>y</i>-axis: horizontal, space-fixed; <i>z</i>-axis: vertical, and head-fixed; <i>x</i>-axis: torsional, head-fixed, and unchanged). This two-dimensional area of DBN-associated head positions did not change when whole-body rotations took different paths (e.g., by forwarding pitch) or were executed with different velocities. Moreover, the intensity of DBN was also independent of whole-body rotation paths and velocities. So far, therapeutic approaches with repeated liberation maneuvers and cranial vibrations were not successful. We speculate that vertigo and DBN in this patient are due to macular damage, possibly an unstable otolithic membrane that, in specific orientations relative to gravity, slips into a position causing paroxysmal stimulation or inhibition of macular hair cells.


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