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

Grünert, Sarah Catharina and Fowler, Brian and Superti-Furga, Andrea and Sass, Jörn Oliver and Schwab, Karl Otfried. (2011) Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease. Brain & development, Vol. 33, H. 5. pp. 432-436.

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Official URL: http://edoc.unibas.ch/dok/A6006519

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Abstract

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.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrie (Frey)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrie (Frey)
UniBasel Contributors:Fowler, Brian
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Elsevier
ISSN:0387-7604
Note:Publication type according to Uni Basel Research Database: Journal article
Identification Number:
Last Modified:25 Oct 2013 08:32
Deposited On:25 Oct 2013 08:32

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