Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

1995 ◽  
Vol 89 (2) ◽  
pp. 116-121 ◽  
Author(s):  
Johannes J�rg ◽  
J. M Schr�der ◽  
B Sellhaus
1996 ◽  
Vol 60 (2) ◽  
pp. 235-236 ◽  
Author(s):  
J Lechner-Scott ◽  
S Engelter ◽  
A Steck ◽  
S Dellas ◽  
M Tolnay ◽  
...  

2021 ◽  
Author(s):  
Thomas Schneider ◽  
Stephan Frank ◽  
Amrei Beuttler ◽  
Suzie Diener ◽  
Kirsten Mertz ◽  
...  

1987 ◽  
Vol 10 (3) ◽  
pp. 246-262 ◽  
Author(s):  
Ruurd Schoonhoven ◽  
Ronald L. L. A. Schellens ◽  
Dick F. Stegeman ◽  
Anneke A. W. M. Gabreëls-Festen

1983 ◽  
Vol 13 (1) ◽  
pp. 65-68 ◽  
Author(s):  
Martin Pollock ◽  
Hitoshi Nukada ◽  
Peter Taylor ◽  
Ivan Donaldson ◽  
Grant Carroll

2009 ◽  
Vol 67 (3b) ◽  
pp. 892-896 ◽  
Author(s):  
Cristiane Borges Patroclo ◽  
Angelina Maria Martins Lino ◽  
Paulo Eurípides Marchiori ◽  
Mário Wilson Iervolino Brotto ◽  
Maria Teresa Alves Hirata

We report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve biopsy were in the accordance with axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum lipids and muscle enzymes abnormalities. Our report is the first done by a group outside Japan, where the disease initially seemed to be restricted and stressed the phenotypic variability from the original report.


2019 ◽  
Vol 65 (6) ◽  
pp. 767-770 ◽  
Author(s):  
Renata Carolina Schlögel de Freitas ◽  
Carlos Augusto Zanardini Pereira ◽  
Nadia Tannous Muri ◽  
Valéria Aparecida Zanela Franzon ◽  
Carlos Alberto Camorim Fatuch

SUMMARY Leprosy is a chronic infectious disease caused by Mycobacterium leprae, which affects mainly the skin and peripherical nerves. Brasil has not yet achieved its goal of elimination of the number of cases of this disease, ranking second in terms of absolute numbers worldwide, with India occupying the first position. Primary Neural Leprosy is considered to be a challenge in diagnosis, since it affects the peripherical nerve system with the absence of skin lesions, thus mimicking rheumatological disorders, like in the case presented. A male, 31, with no previous comorbidities, five years ago, started feeling severe pain in the left ankle as well as morning hand pain and stiffness. After many years of being submitted to intense rheumatological disease investigation, they all proved to be negative. Upon physical examination, the patient presented no skin lesions, symmetric polyarthritis in metacarpophalangeal joints and thickness of the left sural nerve. Lab exams showed no alterations and bacilloscopy was negative. Ultrasonography was used to investigate the thickness of the left sural nerve. Biopsy showed a minimal amount of perineural lymphocytes and positive AFB testing. Based on the electroneuromyography, the conclusion was multiple mononeuropathy, and multibacillary polychemotherapy was started. Leprosy remains a public health problem in Brasil. Due to the high prevalence of the disease, our medical colleagues must be alert and trained to recognize this clinical presentation of leprosy. Correct referral to Reference Centers accelerates research, contributing to an accurate diagnosis, classification, and treatment, thus preventing irreversible sequelae with severe functional disability.


2005 ◽  
Vol 7 (1) ◽  
pp. 19-24 ◽  
Author(s):  
Siew-Na Lim ◽  
Chin-Chang Huang ◽  
Hung-Chou Kuo ◽  
Yu-Chen Hsieh ◽  
Chun-Che Chu

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