- CASE FILE
Encephalopathy type “episodes”. It is a genetic condition. Has affected at least two generations possibly starting on the third.
ABOUT THIS CASE FILE
Age of onset is most likely the fourth decade. Encephalopathy ( delirium ) type events. Confusion, loss of cognitive skills, and ability to process information, no working memory ,Hemianopsia. During episodes pupils sometimes are nonresponsive to light. Walks like a drunken sailor although no alcohol has been consumed. These all occur during these episodes. Summer milder than others. May last anywhere from a few hours to several days. After the event recovery is not 100%. Has had two other brothers but identical symptoms. Mildly low red blood cells, elevated Adamts13. Mildly elevated D-dimer. Minimal damage on CAT scan MRIs show chronic small vessel disease. Not enough to cause the episode we are seeing. Pet scan shows small glucose uptake in the left frontal lobe. CFS fluid clear has not shown any possibilities of a direction. Whole Exome sequencing does not give a clear genetic route. Purpura spots on arms. Urine does change color when exposed to sunlight but no Porphyria is found in urine or stool samples. Low citrulline(mildly) elevated B-7 and L-arginine (mildly). Low CO2.