Disordini dello "spettro Zellweger": rara causa di convulsioni e ipotonia nel neonato

The paper describes a case of a newborn suffering from severe hypotonia and drug-resistant seizures, who was diagnosed with a “Zellweger spectrum” disease by means of biochemical and enzymatic tests. The “Zellweger spectrum” disorders are a group of diseases including Zellweger syndrome, Neonatal Adrenoleukodystrophy and Refsum disease which are considered as a “clinical and biochemical continuum”, characterized by the loss of peroxisomal functions, caused by molecular defects in genes coding for peroxins, proteins required for peroxisome biogenesis.