Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   2013 , Volume 7 , Number 4 (SUPPL.1); Page(s) 12 To 12.
 
Paper: 

PROTON MR SPECTROSCOPY IN THE DIAGNOSTIC EVALUATION OF SUSPECTED MITOCHONDRIAL DISEASE IN IRAN

 
 
Author(s):  RAHIMIAN ELHAM*, TAHSINI MAJID, TONEKABONI SEYED HASSAN, KARIMIZADEH PARVANEH
 
* RADIOLOGIST, ANDISHEH BADIE RAYAN RESEARCH INSTITUTE AND HAGHIGHAT MEDICAL IMAGING CENTER, TEHRAN, IRAN
 
Abstract: 

Mitochondrial diseases are a group of inherited disorders Caused by a derangement of mitochondrial respiration. The clinical manifestations are heterogeneous, and the diagnosis is often based on information acquired from multiple levels of inquiry that require a variety of diagnostic tests for proper determination.
Neuroimaging may play a significant role in diagnosis. The various modalities of nuclear magnetic resonance imaging (MRI) allow for multiple independent detection procedures that can give important anatomical and metabolic clues for diagnosis when the constellation of symptoms is suggestive of mitochondrial disease, neuroimaging features may be diagnostic and suggestive, can help direct further workup, and can help to further characterize the underlying brain abnormalities. The non-invasive nature of neuroimaging also allows for longitudinal studies. To date, no pathognomonic correlation between specific genetic defect and neuroimaging findings have been described. The definitive diagnosis of a mitochondrial disorder can be difficult to establish. Magnetic resonance imaging changes may be nonspecific, however, certain neuroimaging results can give important clues that a patient may have a mitochondrial disease. Conventional MRI may show Brain atrophy, supratentorial white matter lesions, basal ganglia involvement deep gray structural abnormalities, and delayed myelination are the most frequent anomalies in the definite cases.

 
Keyword(s): PEDIATRICS, MITOCHONDRIAL DISEASE, NEUROIMAGING, PROTON MR SPECTROSCOPY
 
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