Cyclic vomiting syndrome in multisystem mitochondrial disorder.

BACKGROUND: Cyclic vomiting syndrome (CVS) is characterized by recurrent episodes of incapacitating nausea or vomiting accompanied by abdominal pain, interspersed with relatively symptom-free intervals that might last from a few weeks to months. There are a number of indications that CVS could be a manifestation of a mitochondrial disorder (MID).

AIM: To illustrate how a MID may present with symptoms typical of CVS.

CASE: A 31 year old female diagnosed as having CVS since birth had additional features of short stature, deafness, irritable bowel syndrome, cardiomyopathy with myocardial thickening in the absence of arterial hypertension, hepatopathy with steatosis hepatis, myopathy, and polyarthrosis. Her family history was positive for diabetes, short stature, and migraine with a maternal mode of inheritance, frequently found in patients with MIDs. Frequency of CVS episodes decreased with age but other manifestations of the MID became worse over time. Due to the multisystem nature of the disease and the positive family history, a MID was assumed.

CONCLUSIONS: Early-onset CVS often improves in adulthood. CVS may be associated with multisystem disease, suggesting the presence of a MID. CVS should be regarded as a manifestation of a MID if typical clinical manifestations of a MID, which cannot be explained by other causes, are present.