Reply to Letter to the Editor “Maternally inherited diabetes and deafness is a mitochondrial multiorgan disorder syndrome (MIMODS)”

Excerpt

We thank Dr. Finsterer and Frank for their interest to our report and the constructive comments [1, 2]. We would like to report the disease course of this case during the 44-month follow-up. In the first 6 months after discharge from our hospital, she received regular daily insulin injection and blood sugar monitoring without major event. At the 7 months, we started coenzyme Q10 treatment for the muscle weakness. The dose was gradually titrated up from 10 to 30 mg tid, but the effect was only modest. At the 17 months, the symptoms of distal limb numbness and tingling pain emerged, which were believed to be painful diabetic polyneuropathy. Vitamin B12 and imipramine were prescribed with short-term response. At the 19 months, she complained of mild epigastric pain and acid regurgitation. The symptoms were gone after short-term prokinetic treatment, so we did not arrange endoscopic examination for her. At the 27 months, she was hospitalized again for the treatment of another episode of DKA. She received irregular insulin injection before the episode, and no other trigger factors were found. During this hospitalization, elevated liver enzymes with ALT (SGPT) 4× and AST (SGOT) 3× above normal upper limits were noticed. Hepatitis B or C virus infection was excluded. At the 33 months, she mentioned the symptoms of urinary frequency, urgency and incontinence. At the 38 months, we added pregabalin to relieve the neuropathic pain. During the 44-month follow-up, she had been hospitalized for three times due to DKA. All episodes were attributed to poor drug compliance, not to infection or other causes. Serum lactate levels, including in the initial presentation, were not elevated. There was no involuntary movement, ataxia or seizure. The electroencephalographies at initial presentation and follow-up 3 year later were normal. No symptoms of stroke-like episodes or migraine were provided. Brain MRI follow-up 3 year later showed bilateral basal ganglia and thalamus calcifications and cerebral atrophy compared to the MRI at first hospitalization (Fig. 1). Formal neuropsychologic test by mini-mental status examination was 27/30 (normal cutoff is above 24 for this patient).

…