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Revision 57 for 'X-linked hydrocephalus with adducted thumb'

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X-linked hydrocephalus

The differential diagnosis of severe ventriculomegaly with kinked brainstem and vermian hypoplasia includes: dystroglycanopathy, tubulinopathy and mutations in the L1CAM gene on the X-chromosome.

The presence of thumb adduction, as well as absence of ocular and basal ganglia abnormalities favors L1CAM mutation.

Although there is some overlap in the conditions and genetic analysis is required, this case illustrates the complementarity of US and MRI in guiding the diagnosis in a case of severe VM.

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