Citation, DOI, disclosures and article data
Citation:
Radswiki T, Nyila T, Gaillard F, et al. Walker-Warburg syndrome. Reference article, Radiopaedia.org (Accessed on 18 Mar 2025) https://doi.org/10.53347/rID-14654
Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterized by:
Additional anomalies include:
Genetics
It is considered by many to be inherited in an autosomal recessive manner.
MRI
Different brain abnormalities can be present, such as:
diffuse cobblestone cortex
complete absence of cerebral and cerebellar myelin
cerebellar polymicrogyria
pontine and cerebellar vermal hypoplasia
hydrocephalus
variable callosal hypogenesis
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Treatment and prognosis
The overall prognosis is poor with most infants dying within the 1st year of life. There is no specific treatment and management is mainly supportive.
History and etymology
It was named after Arthur Earl Walker and Mette Warburg.
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