A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma

Abstract

Peroxisomal biogenesis disorders (PBDs) are autosomal recessive diseases caused by mutations in one of the 14 PEX genes described in the scientific literature. All of these syndromes may be associated with different mutations in the PEX genes, the most frequent being PEX1 for patients with Zellweger syndrome (ZS). In this paper, we present the case of a patient with a peculiar clinical history: evisceration of the left eye (LE) at 4 years of age because of a benign ocular teratoid medulloepithelioma and a progressive loss of visual acuity (VA) in the right eye (RE) beginning at 9 years of age, leading to the diagnosis of ZS. In addition, the patient presented a mutation in the PEX14 gene that has not been previously described in the literature. This case broadens the spectrum of clinical expression in ZS patients because of not only the presence of a benign ocular teratoid medulloepithelioma at 4 years of age but also the late clinical expression of ZS (at 9 years of age).

Keywords: Leukodystrophy; Ocular medulloepithelioma; Optic neuropathy; Zellweger syndrome.

Fig. 1

Anatomopathological aspect of the tumor in the LE. (A) Macroscopic aspect of the retrolental mass after LE enucleation. (B) Microscopic cross-sectional view of the tumor (hematoxylin and eosin staining, ×400) showing typical cells and rosettes (arrow) in the benign teratoid medulloepithelioma.

Fig. 2

Funduscopic aspect of the RE, showing temporal pallor of the optic nerve and a normal retina.

Fig. 3

MRI of the brain and orbits, with axial T2 (A) and axial FLAIR (B, C, D) sequences, showing white-matter hyperintensity predominantly in the occipital lobe (with bilateral thalamic involvement) and in the splenium of the corpus callosum. The enucleation of the LE is also visible.