neuro sarcoidosis and OXPHOS defect

[Kathryn__0__0]

  Hi.  My children have recently been diagnosed by Dr. Shoffner in Atlanta as having a complex one and four defect in oxidative phsophorylation.  Genetic studies are pending but it is probabale that they have mitochondrial encephalomyopathy.
  My sister, at the age of 29, was diagnosed with sarcoidosis which mainly affected her neurologically.  Many of her cranila nerves were affected, she was significantly weak and had poor endurance and her muscles bulk became decreased.  She was treated by the Doctor considered to be the US expert in this, (can't remeber his name - he is at Emory these days) with prednisone and went into "remission".  Since that time her cranial nerve function is intact but she continues to have the other symptoms as well as asthma which is at times severe.  I can not help but notice how similar her symptoms seem to my children.  I know her diagnosis is/was accurate because of who diagnosed her.  As well, I know my children's daignosis is accurate as Dr. Shoffner is consdiered to have such a reputable lab.  
  My question is if anyone has ever heard of these 2 diseases co existing or one being caused by the other?  It just seems like such a coincidence for both of these diseases to present in my family.  
Dear Kathryn:
Sorry to hear about your children and sister. Frankly, I am not an expert in neuroscardosis so please take this with a grain of salt.  With neuroscardosis, on MRI imaging (T2) there should be some areas of increased signal intensity in the periventriclular areas.  Contrast will often show leptomeningeal enhancement as well as parenchymal abnormalities, and the spine can often show an enhancing fusiform enlargement (MRI).  These would not be seen in mitochondrial disease.  In addition to the imaging differences, in the mitochondrial disorders there should be blood abnormalities, such as increased lactate, pyruvate, and ammonia that are not seen in sarcoid.  There would be no abnormalities in the urine organic acids in neurosarcoid.  So, there would be differences seen in each individual disease and both types of abnormalities would be present if both entities were present.  Could these two entities be seen in the same individual?  The answer is probably yes. Although it would be rather remote, it is possible.  If you sister did not have the imaging abnormalities and had the blood abnormalities, it would be wise to check her complex I and IV activities.  Although treatment for complex IV, let alone for complex I is not very good, it is far different than for neurosarcoid.  I'm sorry that I can not be more definitive.  
Sincerely,
CCF Neuro[P] MD, RPS