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Original Article

Sulfite oxidase deficiency in a newborn

Authors:

H Westerlinck ,

Department of Radiology, G. Gaslini Childrens Hospital, Genoa, Italy, IT
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L Meylaerts,

Department of Radiology, G. Gaslini Childrens Hospital, Genoa, Italy, IT
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MR Van Hoestenberghe,

Department of Neonatology, Ziekenhuis Oost-Limburg, Genk, Belgium, G. Gaslini Childrens Hospital, Genoa, Italy, IT
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A Rossi

Department of Pediatric Neuroradiology, G. Gaslini Childrens Hospital, Genoa, Italy, IT
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Abstract

Isolated sulfite oxidase deficiency is a rare, autosomal recessive disease with a very poor prognosis. This condition usually presents in the neonatal period and is mainly characterized by neurological abnormalities, including refractory seizures, abnormal muscle tone, abnormal movements, and marked developmental delay. The differentiation from hypoxic-ischemic encephalopathy is difficult based on clinical findings alone. We present a neonatal case

How to Cite: Westerlinck, H. et al., (2014). Sulfite oxidase deficiency in a newborn. Journal of the Belgian Society of Radiology. 97(2), pp.113–114. DOI: http://doi.org/10.5334/jbr-btr.40
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Published on 01 Mar 2014.
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