Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterized by:
- fetal hydrocephalus: almost always present
- neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly type II)
- distinctive dorsal "kink" at the mesencephalic-pontine junction7
- Dandy Walker continuum
- retinal dysplasia
- encephalocoele
- cerebellar malformations
- congenital muscular dystrophy
Additional anomalies include:
- agenesis of the corpus callosum
- microphthalmia or unilateral buphthalmos 8
- ocular colobomas
- microtia
- congenital cataracts
- genital anomalies in males
- cleft lip +/- palate
On this page:
Pathology
Genetics
It is considered by many to be inherited in an autosomal recessive manner.
Radiographic features
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
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.