MEGDEL association is a recently reported disease (Morava et al 2006), considered a defect in oxidative phosphorylation, that comprises 3-methylglutaconic aciduria (3-MGA), sensorineural deafness and Leigh encephalopathy as key features. Here, we describe a boy with hepatopathy, as an additional main problem. Family history, pregnancy and delivery were normal. Aminotransferases were mildly elevated (2xN) since birth. At age 3 months further increase of transaminases indicated hospital work-up. We noticed craniotabes, strong tendency to hypoglycemia, high alkaline phosphatase, low phosphate, unmeasurably high alpha-fetoprotein, high gamaGT, low fibrinogen. Organic acids reflected initially liver lesion, therafter 3-MGA (26 to 56 mmol/mol creatinin). Lactate was normal. Liver biopsy revealed strong bile ducts proliferation, mild intrahepatic cholestasis, microvesicular steatosis, portal fibrosis with bridging septa and regeneratory hepatocyte nodules. Mitochondria were polymorphic, abnormally shaped with sparse, abnormal or missing crista. During follow-up hypoglycemia, rickets signs and liver tests gradually ceased, while progressive hypotonia and severe psychomotor retardation take place. At age 16 months severe sensorineural hearing loss became evident. Brain MR revealed symmetrical lesions of caudate and putamen. In some muscle fibers there were fatty vacuoles and enlarged vacuolated mitochondria. In muscle there was mild deficiency of ATP-synthetase and normal other respiratory chain enzymes. mtDNA depletion test, sequencing of DGUOK gene, search for MELAS and NARP mutation were normal. Usual measures for mitochondrial diseases were unsuccessful. This case indicates that MEGDEL association could involve liver, as suggestive by previous reports of some patients with 3-MGA (Broide et al, 1997).

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