Choroba refluksowa przełyku jako objaw maskujÄ cy chorobę mitochondrialnÄ

Ten-month-old girl, was admitted to hospital with suspicion of respiratory disorders in the course of gastroesophageal reflux. Medical history revealed psychomotor retardation, muscles hypoatrophy and incident of dyspnoe. In laboratory tests metabolic acidosis (pH 7,30; HCO3 9,6 mmo/l; BE - 14,2 mmol/l) was found. In upper gastrointestinal tract endoscopy ulceration local of gastric mucosa 4 mm diameter was observed, in histhopathology I° oesophagitis was found. Proton pump inhibitor was prescribed. In additional laboratory tests high level of lactic acid, in serum and alfa-ketoglutaronic acid and other metabolites of citirc acid cycle in urine were found. In MRI characteristic features of necrotic Leigh encephalopathy were observed. When patient was 14 month old respiratory disorders during upper respiratory tract infection were observed and this incident caused death. Presented case showed that mitochondrial diseases are still insuficiently known and often misdiagnosed in Poland.