Intestinal pseudo‐obstruction in mitochondrial diseases

we retrospectively analyzed the\udclinical and radiological features of the symptomatic individuals\udharboring the m.3243A>G mutation investigated in our neuromuscular\udcenter between 1 January 2011 and 30 May 2016. All\udpatients were classified according to the clinical phenotypes in\udmitochondrial encephalomyopathy, lactic acidosis, and stroke like episode syndrome (MELAS; n 5 10), maternally inherited\uddiabetes and deafness (n 5 10), chronic progressive external\udophthalmoplegia (n 5 6), and in subjects with atypical clinical\udpresentations (n 5 4).\udSix patients of our cohort (20%) had a history of intestinal\udpseudo-obstruction (6 pedigrees, 3 men; mean age, 37\udyears; range, 16–65; mean body mass index [BMI], 16; range,\ud13–18). Differently from what was reported by Ng et al, all\udpatients manifested MELAS syndrome and only 1 patient\uddeveloped intestinal pseudo-obstruction concomitantly with an\udacute stroke-like episode (SLE). Moreover, we, too, observed 1\udpatient who developed a severe gastrointestinal dysmotility episode\ud14 years before his first SLE. Radiological investigations\udon 5 patients showed a concomitant dilation of small and large\udbowels in 3 patients and an isolated distension of large bowel\udin 2 patients. One patient had clinical evidence of urinary\udretention during an acute presentation of intestinal pseudoobstruction.\udThree patients died concomitantly with the severe\udgastrointestinal event: 2 of aspiration pneumonia and sepsis and\ud1 of aspiration pneumonia and cardiorespiratory failure. All\udpatients with a history of intestinal pseudo-obstruction had at\udleast an SLE. These data confirm that SLE and BMI are strong\udpredictors of the development of intestinal pseudo-obstruction.\udInterestingly, the 3 patients of our cohort who died concurrently\udwith this severe gastrointestinal episode presented a severe\udcortical atrophy and dementia, and we speculate that these clinical\udand radiological conditions increase risk of death during an\udintestinal pseudo-obstruction episode probably attributed to the\udinability to protect their own airways. We suggest to extend the\udgastrointestinal screening to all patients with mitochondrial diseases.\udIn fact, also in our experience, severe gastrointestinal\udevents are associated in other primary mitochondrial DNA and\udnuclear mutations (eg, a TWINKLE-related mitochondrial disease\udand a patient with mutation in the COX3 gene). Finally,\udwe fully agree with Ng et al to avoid surgical intervention for\udthis clinical condition and to begin an adequate medical treatment\udas early as possibl