A patient is presented with a special cause of neonatal cholestasis. The described patient suffered from a disease belonging to the Zellweger spectrum, a hereditary peroxisome biogenesis disorder, caused by the inability to form peroxisomes, which result in a general deficiency of peroxisomal enzymes. Peroxisomes are involved in a variety of cellular functions. Patients suffering from a peroxisome biogenesis disorder (PBD) usually have psychomotor retardation, disorders of the liver, retinopathy and sensorineural hearing loss. The patient suffered from hepatic dysfunction and neurological symptoms and died at the age of six months because of respiratory insufficiency.
|Journal||Tijdschrift voor Kindergeneeskunde|
|Publication status||Published - 2004|