Soccer Player With Unusual Presentation of Asymptomatic Lafora Body Disease of Liver

Le résumé fourni par la source

22 year old male from Trinidad presents with elevated liver enzymes. Patient had some crampy abdominal pain otherwise no symptoms. He is a professional soccer player but has not taken any supplements. Serologies negative were for chronic liver disease. Biopsy showed lafora bodies like inclusions in the liver. 22 year old M from Trinidad presents to liver clinic after referral from PMD for elevated liver enzymes. Patient has had this for over a year in Trinidad. Patient is seeking enlistment in the Army, but given elevated liver enzymes he has not been accepted. Patient states he drank heavily with friends about once every 2 weeks for about 5 years but stopped one year ago. Patient had intermittent crampy abdominal pain but ROS otherwise negative. He is a professional soccer player; has not taken vitamins/supplements in the past year. Only significant family history is mom had breast cancer at age 50. Physical exam was negative for any abdominal tenderness or scleral icterus. Labs significant for AST/ALT of 72/121 and then trended upwards to 99/147. Alk phos reached as high as 262; T. bili was high as 1.5. Hepatitis serologies, HIV, ferritin/TIBC for hemochromatosis, auto-immune workup, ceruloplasmin for wilsons disease, and alpha-1 antitrypsin were all negative. RUQ sono was negative for any biliary or liver abnormalities. Liver biopsy was significant for liver with lafora body like inclusions. Patient went back to Trinidad and has not been in for follow-up. Lafora's disease is characterized by neurological deficits (epilepsy), and presents with PAS positive intracellular inclusion bodies that can be found in brain, liver, heart, etc.1 Lafora's disease is an autosomal recessive disease that has a usual onset in late childhood or adolescence with rapid neuro-degeneration with onset.2 It is unclear in our case what a positive liver biopsy indicates in our patient's case. He did not have any neurological symptoms and was actually in top physical form awaiting entry into the army in Trinidad.

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