Neuroimaging findings can be significant for making the diagnosis of the L1 Syndrome.

Some patients will have normal MRI of the brain, including those with the X-linked complicated hereditary spastic paraplegia type 1.


Abnormal findings may include:

(1) hydrocephalus with or without stenosis of the aqueduct of Sylvius

(2) dysplasia, hypoplasia or aplasia of the corpus callosum

(3) hypoplasia of the cerebellum (vermis or white matter)

(4) small brain stem

(5) bilateral agenesis of the pyramids (affecting the corticospinal tracts)

(6) enlarged massa intermedia

(7) abnormal quadrigeminal plate

(8) rippled ventricular wall following shunt placement

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