Response to the Letter to the Editor

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) is a rare genetic disorder and is one of heterogeneous group of disorders called inherited metabolic diseases (IMDs).¹ It is extremely rare to find a patient with MELAS with pyloric stenosis as a manifestation of the gastrointestinal (GI) dysfunction. Since MELAS patients suffer from multiorgan disease caused by a mutation in mitochondrial DNA (mtDNA), the clinical manifestations are highly variable. Within these rare cases, however, the GI complications are quite common.² These complications are chronic intestinal pseudo-obstruction, pancreatitis, gastroparesis, and hepatopathy to list a few of many GI symptoms.² In the full spectrum of IMDs, feeding difficulties are manifested as the most common GI symptoms.¹ Since MELAS has not been completely understood, and as a spectrum of maternally transmitted mtDNA mutation diseases, we are assuming that this particular patient’s adult onset of pyloric stenosis stems from her previously diagnosed MELAS. Another point that the authors would like to make is that this patient benefitted greatly by the pyloromyotomy, which may help in some other patients with MELAS or IMDs, who are suffering from feeding difficulties with possible pyloric stenosis. We felt compelled to report this case report due to the fact that there was no previous report of pyloric stenosis as a part of MELAS in any other journal’s articles. I hope that this answer clarifies at least one of the unknown factors surrounding MELAS and IMDs in general. We hope that in the future there may be more focused research on the feeding difficulty patients with various GI manifestations as part of the spectrum of MELAS and IMDs and find the exact cause that can be mitigated or cured. The pyloromyotomy was a life-changing fix for this young woman.