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Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke

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We report on the second child of unrelated, healthy Caucasian parents, born following an uneventful pregnancy and living in Romania. He attained normal developmental milestones until eleven months when he… Click to show full abstract

We report on the second child of unrelated, healthy Caucasian parents, born following an uneventful pregnancy and living in Romania. He attained normal developmental milestones until eleven months when he was admitted to hospital for a scheduled inguinal hernia surgery, as reported by his parents. Following a preparing drip, he became hypotonic and hyporesponsive and consequently, surgery postponed. Twenty-four hours later, despite fever, diarrhea, and vomiting, the child was discharged following cefotaxime, colistin, and hydrocortisone hemisuccinate treatment; two days later, the child became unconscious, presented a possible seizure with eye rolling and left-sided weakness. After the episode, left hemiparesis installed with psychomotor regression of the developmental milestones. No diagnosis was made before the first MRI, which was performed at the University Hospital in Bucharest at the age of two. The MRI showed T2-weighted hyperintense putaminal signal alteration (right side prominent), which was diagnosed as an ischemic stroke.

Keywords: type hemidystonia; ischemic stroke; glutaric aciduria; atypical glutaric; aciduria type; stroke

Journal Title: Movement Disorders Clinical Practice
Year Published: 2018

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