An adult presentation of Leigh's disease-like with brainstem involvement

2019 ◽  
Vol 67 (6) ◽  
pp. 1568
Author(s):  
Sachin Sureshbabu ◽  
GauravK Mittal ◽  
Sudhir Peter ◽  
Chindripu Sobhana ◽  
Amit Garg ◽  
...  
Keyword(s):  
Leigh's Disease ◽  
Adult Presentation

scholarly journals An adult presentation consistent with PIMS-TS

2020 ◽  
Vol 2 (9) ◽  
pp. e520-e521
Author(s):  
Imogen Jones ◽  
Lucy C K Bell ◽  
Jessica J Manson ◽  
Anna Last
Keyword(s):  
Adult Presentation

scholarly journals Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

2015 ◽  
Vol 115 (4) ◽  
pp. 161-167 ◽  
Author(s):  
Ashlee R. Stiles ◽  
Sacha Ferdinandusse ◽  
Arnaud Besse ◽  
Vivek Appadurai ◽  
Karen B. Leydiker ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Exome Sequencing ◽  
Retrospective Analysis ◽  
Leigh's Disease

scholarly journals DETECTION OF LEIGH'S DISEASE IN FIBROBLASTS

1974 ◽  
Vol 8 (4) ◽  
pp. 393-393 ◽  
Author(s):  
Jerome V Murphy ◽  
Warren F Diven ◽  
Linda Craig
Keyword(s):  
Leigh's Disease

Benign ano-rectal disorders

2017 ◽  
Vol 10 (5) ◽  
pp. 253-261
Author(s):  
James Kynaston
Keyword(s):  
Primary Care ◽  
High Index ◽  
Diagnosis And Management ◽  
High Index Of Suspicion ◽  
Adult Presentation ◽  
Surgical Referral

Benign ano-rectal disorders are a common adult presentation to primary care; they also generate a significant number of secondary referrals. The exact prevalence of these conditions is difficult to determine, due to under-reporting of symptoms, which patients can find embarrassing and difficult to disclose. It can be challenging to distinguish between different ano-rectal disorders which present with similar symptoms. A high index of suspicion is required to detect serious malignant pathology. The aim of this article is to outline the epidemiology, pathophysiology, diagnosis and management of common benign ano-rectal disorders in primary care. The indications for surgical referral and important cancer referral guidelines are included.

scholarly journals Multimodality Imaging of Rare Adult Presentation of ALCAPA Treated With Takeuchi Repair

2018 ◽  
Vol 11 (1) ◽  
pp. 98-99 ◽  
Author(s):  
Arka Chatterjee ◽  
Thomas E. Watts ◽  
David C. Mauchley ◽  
Ami E. Iskandrian ◽  
Mark A. Law
Keyword(s):  
Multimodality Imaging ◽  
Adult Presentation

A case of Leigh's disease with initial manifestation of dystonia

1990 ◽  
Vol 31 (3) ◽  
pp. 274 ◽  
Author(s):  
Chae Woo Chung ◽  
Sung Hee Hwang ◽  
Young Chul Choi ◽  
Young Ho Sohn ◽  
Jin Soo Kim ◽  
...  
Keyword(s):  
Initial Manifestation ◽  
Leigh's Disease

Adult presentation of diastematomyelia: A case report

2011 ◽  
Vol 78 (5) ◽  
pp. 529-530 ◽  
Author(s):  
Rahma Boussaadani Soubai ◽  
Latifa Tahiri ◽  
Ghita Sqalli Houssaini ◽  
Samia Mansouri ◽  
Taoufik Harzy
Keyword(s):  
Case Report ◽  
Adult Presentation

Pathogenic factors underlying the lesions in Leigh's disease

Brain ◽  
1994 ◽  
Vol 117 (6) ◽  
pp. 1357-1376 ◽  
Author(s):  
J. B. Cavanagh ◽  
B. N. Harding
Keyword(s):  
Leigh's Disease ◽  
Pathogenic Factors
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