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Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease

  • Cobalamin C (cblC) defect, the most common inborn error of cobalamin metabolism, is a multisystem disorder usually presenting with progressive neurological, haematological and ophthalmological signs. We report on a cblC patient diagnosed in the newborn age who developed nearly normal during the first year of life. During an upper respiratory tract infection with severe hyperpyrexia at the age of 14months he developed an acute encephalopathic crisis resulting in severe mental retardation and marked internal and external cerebral atrophy. Hyperacute encephalopathic crises have not been observed so far in patients with cblC defect. It remains unclear, if this association is incidental or if the underlying metabolic defect may have predisposed the brain tissue to hyperpyrexia-induced damage.

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Document Type:Article
Author:Sarah Catharina Grünert, Brian Fowler, Andrea Superti-Furga, Jörn Oliver Sass, Karl Otfried Schwab
Parent Title (English):Brain Dev. (Brain & Development)
First Page:432
Last Page:436
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=20926213
Publisher:Elsevier Science
Publication year:2011
Departments, institutes and facilities:Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2018/08/18