Bilateral striatal necrosis and progressive polyneuropathy

Common Name(s)

Bilateral striatal necrosis and progressive polyneuropathy

Thiamine metabolism dysfunction syndrome-4 is an autosomal recessive metabolic disorder characterized by childhood onset of episodic encephalopathy, often associated with a febrile illness, and causing transient neurologic dysfunction. Most patients recover fully, but some may have mild residual weakness. Affected individuals also develop a slowly progressive axonal polyneuropathy beginning in childhood. Brain imaging during the acute episodes shows lesions consistent with bilateral striatal degeneration or necrosis (summary by {1:Spiegel et al., 2009}). For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 ({249270}).
 

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