Fatemeh Mahjoub; Farrokh Tirgari; Zarrin Keyhani; Nargess Tabarzan; Saghi Vaziri
Volume 3, Issue 2 , March 2008, , Pages 100-103
Abstract
Muscle tissue, skeletal muscle as well as cardiac muscle, is commonly affected in mitochondrial disorders. One explanation for this observation is that muscle tissue has a high-energy demand and therefore is more sensitive to a deficiency of mitochondrial energy production than some other tissues. ...
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Muscle tissue, skeletal muscle as well as cardiac muscle, is commonly affected in mitochondrial disorders. One explanation for this observation is that muscle tissue has a high-energy demand and therefore is more sensitive to a deficiency of mitochondrial energy production than some other tissues. In mitochondrial disorders, skeletal muscle tissue may be affected primarily by defective respiratory chain function or secondarily to peripheral neuropathy with neurogenic muscle atrophy. The clinical manifestations of mitochondrial myopathies are variable and include muscle weakness, exercise induced cramps ad myalgia. Also, ptosis and progressive external ophtalmoplegia are typical but not obligate finding. Hereby we wanted to report a case of mitochondrial myopathy, diagnosed by histochemical and electron microscopic studies for the first time in Iran. Our case was a 12-years old girl who referred due to muscle weakness to our center which started at an age of 8 years. Later, she also developed ptosis. EMG studies were inclusive and muscle biopsy revealed typical red ragged fibers with special staining. By electron microscopy, typical mitochondrial changes were detected.
Isa Jahanzad; Sakineh Amoueian; Armin Attaranzadeh
Volume 2, Issue 2 , April 2007, , Pages 71-73
Abstract
Introduction and Objective: Alport’s syndrome (hereditary nephritis with deafness) is a familial uncommon disease that ultra-structural studies are gold standard method of its diagnosis. Materials and Methods:We studied 26 Iranian patients suspicious of Alport’s syndrome by electron microscopy. ...
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Introduction and Objective: Alport’s syndrome (hereditary nephritis with deafness) is a familial uncommon disease that ultra-structural studies are gold standard method of its diagnosis. Materials and Methods:We studied 26 Iranian patients suspicious of Alport’s syndrome by electron microscopy. We examined 19 men and 7 women (male to female ratio was 2.7) and the average age was 1.5 years (with a range of 2.5-75 years). Results:The most common findings were irregularity of the glomerular basement membrane with splitting, lamination, and foot process effacement. Thinning in basement membrane was also reported and one case had disruption of capillary walls in study by only light microscopy. All of the patients had a diagnosis of megansial hypercellularity. Immunoflourscence studies did not show any deposits of immunoglobulin and complement component. Conclusion: definite diagnosis must be confirmed by ultra-structural findings.
