Myoadenylate deaminase deficiency associated to a liver cirrhosis: A possible cause of neurological dysfunction resembling a hepatic encephalopathy

Marco Fiore, Lorenzo Andreana, Nicola Coppola, Annarosa Floreani


We report a clinical case of a 44-year-old Caucasian male presenting with decompensated HCV-related liver cirrhosis and clinical symptoms involving the central nervous system, particularly muscular spasms and loss of consciousness. Hepatic encephalopathy (HE) was ruled out on the basis of normal levels of ammonia and normal psychometric and neurophysiological tools. A muscle biopsy revealed alterations consistent with homozygosity for myoadenylate deaminase deficiency (MADD). We hypothesize that the liver failure is responsible for an excess of adenosine monophosphate (AMP) which may exert an up-regulation in the expression of glutamine synthetase (GS) in astrocytes, with the consequence of astrocyte swelling, which is one of the steps in the onset of cerebral edema.

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Case Reports in Clinical Pathology

ISSN 2331-2726(Print)  ISSN 2331-2734(Online)

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