Abdominal pain and vomiting as first sign of mitochondrial disease.
We describe a patient in whom abdominal pain and vomiting were the presenting symptoms of Mitochondrial Myopathy Encephalopathy, Lactic Acidosis with Stroke-like episodes syndrome (MELAS). Mitochondrial disorders usually present with neurological symptoms or with myopathic features at any age. Although many patients develop visceral symptoms at a certain moment during the course of the disease, only in a minority of patients these symptoms are the unique presenting ones. The proband was initially diagnosed as having gastro-oesophageal reflux and it was only after detailed clinical history that an underlying metabolic defect was suspected and the molecular defect identified.
Van Biervliet
S
S
Pediatric Gastroenterology, Ghent University hospital, Ghent, Belgium. stephanie.vanbiervliet@ugent.be
Verloo
P
P
Vande Veldel
S
S
Van Winckel
M
M
Smet
J
J
Seneca
S
S
De Meirleir
L
L
Van Coster
R
R
D015746:Abdominal Pain / Q000150:complications*; D002648:Child; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications / Q000175:diagnosis*; D008297:Male; D014839:Vomiting / Q000150:complications*