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Metabolic Stroke; A Rare Clinical Condition of Glycerol Kinase Deficiency

Introduction:Metabolic stroke(MS), begins with metabolic dysfunction and leads to a rapid onset of lasting focal brain lesions in the absence of large vessel rupture or occlusion.MS is routinely reported in glutaric, isovaleric, methylmalonic and propionic acidurias,but it is a rare condition in Glycerol kinase deficiency(GKD). Method:A rare condition; metabolic stroke is presented in GKD. Results:Case:7 years old boy with GKD associated Adrenal insufficiency&Becker Type Muscular Dystrophy, developmental delay and proximal muscle weakness admitted to our hospital with change of consciousness.He has been taking hydrocortisone and fludrocortisone since neonatal period.He had fever and cough 3 days ago, antibiotic was started at the outpatient clinic.On the physical examination; he was unconscious(but reacts to pain), he had neck stiffness and deep tendon reflexes were hypoactive. Because of being brain edema at cranial computed tomography, lumbar puncture couldn’t performed.Acute phase reactants were high, all cultures were negative.We started ceftriaxon, vancomycin, anti-edema treatment and intravenous immunglobulin for encephalitis(infectious/inflamatory).There was brain edema,subfalxian herniation and diffuse cortical cytotoxic edema(occipital area spared) at the left hemisphere in the neuroimaging.Brain arteries&venouses were patent.Involvement of different blood supply areas by preserving the left occipital pole suggested metabolic infarct other than infectious etiologies.At the clinical course he had right central facial paralysis, right hemiplegia,but he started to speak and refered to the physical treatment and rehabilitation department. Conclusion:At the presence of acute onset of encephalopathy and focal lesions in different blood supply areas of brain, metabolic stroke should also be kept in mind in GKD.