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Zellweger syndrome, retinal involvement.

B Stanesu-Segal¹, P Evrard

¹Service d'Ophtalmologie, Université Catholique de Louvain, Bruxelles 12, Belgium.

Metabolic, Pediatric, and Systemic Ophthalmology (New York, N.Y. : 1985)

|January 1, 1989

Summary

Zellweger Syndrome, a rare genetic disorder, presents with distinct biochemical forms and severe neurological symptoms. This case highlights the critical role of peroxisome deficiency and consistent retinal abnormalities in diagnosis.

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Area of Science:

Biochemistry
Genetics
Ophthalmology

Background:

Zellweger Syndrome (ZS) encompasses three biochemical subtypes: hyperpipecolic acidemia, neonatal adrenoleukodystrophy, and infantile Refsum's disease.
These subtypes share overlapping clinical features, complicating diagnosis.
Biochemical advancements enable differentiation between ZS forms.

Observation:

A seven-month-old male infant diagnosed with Zellweger Syndrome is presented.
The patient exhibited peroxisome absence in the liver, elevated pipecolic acid, and abnormal bile acid levels.
Clinical presentation included neurological manifestations, hepatomegaly, and characteristic ophthalmoscopic findings.

Findings:

Ophthalmoscopy revealed grey optic discs and retinitis pigmentosa.
Electroretinography (ERG) showed extinguished responses.
Visual evoked potentials (VEP) were delayed, indicating significant visual pathway dysfunction.

Implications:

This case underscores the diagnostic importance of peroxisome deficiency and biochemical markers in Zellweger Syndrome.
The consistent presence of retinal involvement, including optic nerve and pigmentary changes, is a key feature.
Early identification of these ocular abnormalities is crucial for managing patients with Zellweger Syndrome.

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