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CC BY 4.0 · Arq Neuropsiquiatr 2025; 83(07): s00451809405
DOI: 10.1055/s-0045-1809405
Neuroimaging

The hidden burden of lysosomal dysfunction: visual decline and microphthalmia in Hunter syndrome

Mateen Sheikh 
1   Florida International University, Herbert Wertheim College of Medicine, Department of Medicine, Miami FL, United States.
,
Ibrahim Thein 
1   Florida International University, Herbert Wertheim College of Medicine, Department of Medicine, Miami FL, United States.
,
Kevin J. Abrams 
2   Baptist Health South Florida, Division of Clinical Neuroradiology, Department of Radiology, Miami FL, United States.
3   Florida International University, Herbert Wertheim College of Medicine, Clinical, Miami FL, United States.
,
Leonardo Furtado Freitas 
2   Baptist Health South Florida, Division of Clinical Neuroradiology, Department of Radiology, Miami FL, United States.
3   Florida International University, Herbert Wertheim College of Medicine, Clinical, Miami FL, United States.
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A 43-year-old male patient with Hunter syndrome (also known as mucopolysaccharidosis type II, MPS II) presented with progressive visual impairment and bilateral upper limb weakness. Multimodal imaging revealed posterior scleral thickening, optic disc edema, and photoreceptor loss, indicating a progressive ophthalmopathy associated with lysosomal storage dysfunction.

While glycosaminoglycan accumulation in the ocular structures has been rarely reported,[1] [2] [3] the present is the first report of its progression to chronic ophthalmopathy with microphthalmia. Neuroimaging ([Figures 1] [2] [3]) demonstrated cervical spinal stenosis with potential dynamic myelopathy, likely contributing to limb weakness.[4] [5]

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Figure 1 Computed tomography (CT) scan of the head in bone window (A) and soft tissue window (B–F). Intracranial stigmata of mucopolysaccharidosis with enlarged and partially-empty sella turcica (blue arrows), circumferential thickening of the bilateral sclera and microphthalmia (red arrows), prominent cerebrospinal fluid (CSF) in the middle cranial fossae and mega cisterna magna (orange asterisks), ventriculomegaly, and diffuse white matter abnormalities (yellow dashed circles) with multiple prominent perivascular spaces (PVSs; black arrows), predominantly in the posterior subinsular region, putamina, and thalami. Additionally, there is mild diffuse brain atrophy.
Zoom
Figure 2 Brain magnetic resonance imaging (MRI) scan, axial T2-weighted images (A–F). Increased conspicuity of intracranial stigmata of mucopolysaccharidosis. Notable findings include circumferential scleral thickening and microphthalmia (red arrows), attributed to hypointense material representing glycosaminoglycan accumulation. There was also prominent CSF spaces in the middle cranial fossae (orange asterisks), ventriculomegaly, and diffuse white matter abnormalities (yellow dashed circles) with multiple PVSs (black arrows), predominantly in the posterior subinsular region, putamina, and thalami, extending into the upper midbrain. This microcystic appearance is known as the honeycomb pattern.
Zoom
Figure 3 Brain MRI scan, including sagittal T1-weighted (A), axial T1-weighted (B–C), coronal fluid-attenuated inversion recovery (FLAIR) (D), axial diffusion-weighted imaging (E), and apparent diffusion coefficient (ADC) map (F). Redemonstration of circumferential scleral thickening and microphthalmia (red arrows). Multiple PVSs (black arrows) with a honeycomb pattern exhibiting signal suppression on T1- and FLAIR-weighted images, along with facilitated diffusion. White matter abnormalities show FLAIR hyperintensity, suggesting gliosis and/or demyelination secondary to lysosomal storage dysfunction and neuronal impairment.

The case herein reported highlights the need for early ophthalmologic and neuroradiologic surveillance to prevent irreversible visual and neurological deterioration in Hunter syndrome.


 

Conflict of Interest

The authors have no conflict of interest to declare.

Authors' Contributions

Conceptualization: MS, LFF; Data curation: MS, IT, KJA; Formal analysis: IT; Project administration: LFF; Supervision: KJA; Visualization: IT; Writing - original draft: MS; Writing - review & editing: LFF.


Data Availability Statement

The data used to support the findings of the present study are included in the article.


Editor-in-Chief: Hélio A. G. Teive 0000-0003-2305-1073.


Associate Editor: Luis Filipe de Souza Godoy 0000-0002-6918-6865.



Address for correspondence

Leonardo Furtado Freitas

Publication History

Received: 15 February 2025

Accepted: 13 March 2025

Article published online:
21 June 2025

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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Bibliographical Record
Mateen Sheikh, Ibrahim Thein, Kevin J. Abrams, Leonardo Furtado Freitas. The hidden burden of lysosomal dysfunction: visual decline and microphthalmia in Hunter syndrome. Arq Neuropsiquiatr 2025; 83: s00451809405.
DOI: 10.1055/s-0045-1809405

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Zoom
Figure 1 Computed tomography (CT) scan of the head in bone window (A) and soft tissue window (B–F). Intracranial stigmata of mucopolysaccharidosis with enlarged and partially-empty sella turcica (blue arrows), circumferential thickening of the bilateral sclera and microphthalmia (red arrows), prominent cerebrospinal fluid (CSF) in the middle cranial fossae and mega cisterna magna (orange asterisks), ventriculomegaly, and diffuse white matter abnormalities (yellow dashed circles) with multiple prominent perivascular spaces (PVSs; black arrows), predominantly in the posterior subinsular region, putamina, and thalami. Additionally, there is mild diffuse brain atrophy.
Zoom
Figure 2 Brain magnetic resonance imaging (MRI) scan, axial T2-weighted images (A–F). Increased conspicuity of intracranial stigmata of mucopolysaccharidosis. Notable findings include circumferential scleral thickening and microphthalmia (red arrows), attributed to hypointense material representing glycosaminoglycan accumulation. There was also prominent CSF spaces in the middle cranial fossae (orange asterisks), ventriculomegaly, and diffuse white matter abnormalities (yellow dashed circles) with multiple PVSs (black arrows), predominantly in the posterior subinsular region, putamina, and thalami, extending into the upper midbrain. This microcystic appearance is known as the honeycomb pattern.
Zoom
Figure 3 Brain MRI scan, including sagittal T1-weighted (A), axial T1-weighted (B–C), coronal fluid-attenuated inversion recovery (FLAIR) (D), axial diffusion-weighted imaging (E), and apparent diffusion coefficient (ADC) map (F). Redemonstration of circumferential scleral thickening and microphthalmia (red arrows). Multiple PVSs (black arrows) with a honeycomb pattern exhibiting signal suppression on T1- and FLAIR-weighted images, along with facilitated diffusion. White matter abnormalities show FLAIR hyperintensity, suggesting gliosis and/or demyelination secondary to lysosomal storage dysfunction and neuronal impairment.