Metabolicemergenciesinneurology.pptVIP

Summary Individual IEMs are quite rare in general population Combined prevalence, however, is much more significant By the time neurology is consulted, much has been done to rule-out frequent pathologies – or the patient is critically ill Suspect neurological manifestation of IEM in Critically ill neonate without clear evidence in favor of HIE or sepsis, or other evident cause Any other patient with recurrent episodes of acute encephalopathy, ataxia, vomiting, seizure, LOC Suspicious familial history consanguinity, most infantile death, unexplained death later in childhood or adulthood Act fast to rule-in/out treatable disorders, while trying for an effective empirical treatment Involve genetics early, and keep on reading! Tidbits Good references Fernandes, Saudubray, Van den Berghe, Walter, Inborn Metabolic Diseases: Diagnosis and Treatment, 2006, ISBN 座机电话号码33 Good reference, nice revision of involved pathway at the beginning of each chapter, greatest problem is its cost… Joe T. R. Clarke, A Clinical Guide to Inherited Metabolic Diseases, 2006, ISBN 0座机电话号码6 Like the Fenichel for Child Neurology, provides good approach to differential diagnosis according to clinical picture, but not the reference to learn in depth about a particular disease. How to contact… Shebrooke CHUS : urine screening program, some standard tests urine organic acids for example are also done there and can be done faster if you have a reasonnable reason 819-346-1110, dial 0 for operator and ask for genetic lab Quebec CHUQ If you think your patient might have PKU, tyrosinemia or congenital hypothyroidism and is still in the window period where the results might not be in yet 418-654-2103 Medical genetic or 418-525-4444 general # Questions or comments? Metabolic emergenciesin neurology David Dufresne, MD R2, Child neurology Montreal Children’s Hospital September 1st, 2010 Presentation plan Objectives Basic theory and acute clinical presentation of inborn errors of metabolism The u