Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5 ‐related disorders

Author(s):  
Nicole R. Legro ◽  
Ashutosh Kumar ◽  
Ermal Aliu
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Sara L Weidmayer ◽  
Hakan Demirci

Abstract Background The natural course of a vortex vein varix, though not well understood, has been known to remain stable. However, here we report a novel case of a vortex vein varix that resolved after an extended period of monitoring. Case presentation An asymptomatic 96-year-old Caucasian man was found to have a vortex vein varix. At his previous examination 13 months prior, his fundus was normal. At 13 months of observation, his vortex vein varix become clinically undetectable. Further follow-up confirmed continued absence of the varix. Conclusion This case demonstrates the development then clinical resolution of a vortex vein varix with no clear identifiable factors for its evolution. This case is novel and offers new insight into the natural history of some vortex vein varices, implicating venous congestion as an instigator and venous collateralization as its alleviator, suggesting that vortex vein varices are likely more common than previously reported since some may be temporary and under-identified.


2001 ◽  
Vol 43 (5) ◽  
pp. 383-387 ◽  
Author(s):  
R. F. Adams ◽  
P. Anslow

2000 ◽  
Vol 58 (2B) ◽  
pp. 531-534 ◽  
Author(s):  
LEONARDO FONTENELLE ◽  
MAURO V. MENDLOWICZ ◽  
J. CHRISTIAN GILLIN ◽  
PAULO MATTOS ◽  
MÁRCIO VERSIANI

Kleine-Levin syndrome is characterized by periodic hypersomnia, hyperphagia, sexual disinhibitions and behavioral disturbances. The prognosis is generally benign, with normal cognitive and social functions after the episodes. We describe a typical case of Kleine-Levin syndrome associated with apparent academic decline, neuropsychological sequelae and personality alterations after the second episode of the illness. Further research in the natural history of Kleine-Levin syndrome is needed, for example, to determine whether early intervention would improve long-term prognosis.


2020 ◽  
Vol 139 ◽  
pp. 132-135
Author(s):  
Brooke T. Kennamer ◽  
Daniel G. Gridley ◽  
Laurence D. Rhines ◽  
Geetha R. Nair ◽  
Salvatore C. Lettieri ◽  
...  

1996 ◽  
Vol 110 (1) ◽  
pp. 52-56 ◽  
Author(s):  
Hidetoshi Haraguchi ◽  
Hitoshi Hentona ◽  
Hidekazu Tanaka ◽  
Atsushi Komatuzaki

AbstractPleomorphic adenoma arising in the external auditory canal is rare. We report the case of a 38-year-old man. To better grasp the clinical features and natural history of this uncommon tumour, we also reviewed the world wide literature and found 24 similar cases, which we analysed together with our own.


Neurosurgery ◽  
1985 ◽  
Vol 16 (3) ◽  
pp. 412-415 ◽  
Author(s):  
George R. Cybulski ◽  
Eric J. Russell ◽  
Charles M. D'Angelo ◽  
Orville T. Bailey

Abstract We present a case of falcine chondrosarcoma in a 58-year-old man. Only a few other examples of chondrosarcomas in this location and a total of approximately 50 intracranial cases have been reported. Because its rarity prevents any group of neurosurgeons from collecting a large experience in managing this tumor, we reviewed descriptions of previous cases to determine the natural history of intracranial chondrosarcomas. The distinguishing features of this rare tumor are compared with previous examples of intracranial tumors derived from cartilage and more common tumors in the parasagittal region, such as meningioma.


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