Zellweger Spectrum Disorder (ZSD) shows a range of phenotypes depending on the severity of the genetic defect. The most severe forms present during the neonatal or infantile periods and are associated with early death. Less severe forms may present during childhood, adolescence or adulthood.

Pathogenesis: generalized loss of peroxisome function


Inheritance: usually autosomal recessive


Presentation: childhood


Clinical features:

(1) developmental delay

(2) failure to thrive

(3) vision loss with retinitis pigmentosa, cataract and/or glaucoma

(4) sensorineural hearing loss

(5) varying degrees of hepatic dysfunction

(6) adrenal insufficiency

(7) renal calcium oxalate stones

(8) regression of previously attained neurological milestones secondary to progressive leukodystrophy

(9) mild facial dysmorphic features

(10) variable seizures

(11) mild hypotonia

(12) coagulopathy that may respond to vitamin K

(13) ameliogenesis imperfecta of secondary teeth

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