-transparent.png){kind=logo}
Typical cases of MELAS present a combination of clinical and neuroradiological features, lactacidaemia, and ragged red fibers (RRFs) in striated muscle. We have observed a MELAS-like syndrome in monozygotic twins. They developed seizures typically in conjunction with physical exertion, sleep deprivation or febrile episodes. Stroke-like episodes occurred usually during seizures. In twin 2 the course was fatal at age 20 years. Neuroradiological findings were typical of MELAS. Plasma lactate was normal in both. CSF lactate was normal in twin 1 and normal/elevated in twin 2. RRFs were not seen in muscle biopsies of the twins. Complex I activity was reduced in muscle in twin 1. Brain tissue removed at epilepsy surgery in twin 2 showed the presence of mitochondrial angiopathy. The commonest mitochondrial DNA mutation in MELAS, at base pair 3243, was absent. Lactacidaemia and mitochondrial myopathy with RRFs constitute part of the diagnostic criteria of MELAS. However, the absence of these features does not exclude mitochondrial disorder with the serious manifestations of MELAS (seizures and stroke-like episodes) as seen in these twins.
A Melberg, and
P Akerlund, and
R Raininko, and
H C Silander, and
R Wibom, and
A Khaled, and
I Nennesmo, and
P O Lundberg, and
Y Olsson
November 1991,
No to hattatsu = Brain and development,
A Melberg, and
P Akerlund, and
R Raininko, and
H C Silander, and
R Wibom, and
A Khaled, and
I Nennesmo, and
P O Lundberg, and
Y Olsson
January 2020,
Journal of the neurological sciences,
A Melberg, and
P Akerlund, and
R Raininko, and
H C Silander, and
R Wibom, and
A Khaled, and
I Nennesmo, and
P O Lundberg, and
Y Olsson
January 2017,
Frontiers in neurology,
A Melberg, and
P Akerlund, and
R Raininko, and
H C Silander, and
R Wibom, and
A Khaled, and
I Nennesmo, and
P O Lundberg, and
Y Olsson
January 1996,
European neurology,
A Melberg, and
P Akerlund, and
R Raininko, and
H C Silander, and
R Wibom, and
A Khaled, and
I Nennesmo, and
P O Lundberg, and
Y Olsson
September 1993,
The Japanese journal of psychiatry and neurology,
A Melberg, and
P Akerlund, and
R Raininko, and
H C Silander, and
R Wibom, and
A Khaled, and
I Nennesmo, and
P O Lundberg, and
Y Olsson
February 1978,
Rinsho shinkeigaku = Clinical neurology,
A Melberg, and
P Akerlund, and
R Raininko, and
H C Silander, and
R Wibom, and
A Khaled, and
I Nennesmo, and
P O Lundberg, and
Y Olsson
May 1998,
Muscle & nerve,
A Melberg, and
P Akerlund, and
R Raininko, and
H C Silander, and
R Wibom, and
A Khaled, and
I Nennesmo, and
P O Lundberg, and
Y Olsson
June 2013,
Brain & development,
A Melberg, and
P Akerlund, and
R Raininko, and
H C Silander, and
R Wibom, and
A Khaled, and
I Nennesmo, and
P O Lundberg, and
Y Olsson
March 1993,
Annals of neurology,
A Melberg, and
P Akerlund, and
R Raininko, and
H C Silander, and
R Wibom, and
A Khaled, and
I Nennesmo, and
P O Lundberg, and
Y Olsson
March 1972,
Archives of neurology,
