Summary

46 L1 syndrome is a mild to severe congenital disorder with hydrocephalus of varying degrees of severity, intellectual disability, spasticity of the legs, and adducted thumbs. it includes several conditions, some more severe than others: x-linked hydrocephalus with stenosis of the aqueduct of sylvius (hsas) - the most severe of all; masa syndrome (intellectual disability, aphasia (delayed speech), spastic paraplegia (shuffling gait), adducted thumbs); spg1 (x-linked complicated hereditary spastic paraplegia type 1) x-linked complicated corpus callosum agenesis. it is inherited in an x-linked manner; therefore, it only affects males. it is caused by alterations (mutations) in l1cam gene. the diagnosis is made in males who have the clinical and neurologic findings and a family history consistent with x-linked inheritance and is confirmed by a genetic test showing the l1cam gene mutation. the treatment involves doing a surgery for the hydrocephalus

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