Zellweger's syndrome and retinal involvement

Abstract

Progress in biochemistry permits to distinguish three biochemical forms of Zellweger's syndrome: (1) hyperpipececolic acidemia, (2) neonatal adrenoleukodystrophy, (3) infantile Refsum's disease, which have similar clinical manifestations.

A seven-month-old male patient with Zellweger's syndrome is presented. He had absence of peroxisomes in the liver and elevated pipecolic acids and abnormal levels of bile acids in the blood. The child had a typical neurological clinical manifestation with hepatomegaly. Ophthalmoscopy revealed grey disks and retinitis pigmentosa with extinguished ERG and low and delayed VEP. The importance of the constant retinal involvement in Zellweger's syndrome is discussed.

Key Words:

• Zellweger's syndrome
• retinitis pigmentosa