mental retardation-aphasia-shuffling gait-adducted thumbs syndrome; corpus callosum hypoplasia, psychomotor retardation, adducted thumbs, spastic paraparesis, & hydrocephalus (MASA syndrome, CRASH syndrome)
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Pathology
- some patients manifest corpus callosum hypoplasia & hydrocephalus
Genetics
- X-linked recessive
- inter- & intrafamilial variability is very wide
- associated with defects in L1CAM
Clinical manifestations
- highly variable clinical spectrum
- spasticity & hyperreflexia of lower limbs
- shuffling gait
- mental retardation
- aphasia
- adducted thumbs
- features of spasticity have been referred to as complicated spastic paraplegia type 1