Publications by authors named "Michel Van Lint"

7 Publications

  • Page 1 of 1

Combined Central Retinal Arterial and Venous Occlusions due to Leukemic Infiltration.

Retin Cases Brief Rep 2021 Sep 19. Epub 2021 Sep 19.

Department of Ophthalmology, Antwerp University Hospital, Edegem, Belgium Department of Pathology, Antwerp University Hospital, Edegem, Belgium Department of Radiology, Antwerp University Hospital, Edegem, Belgium Faculty of Health Sciences, University of Antwerp, Edegem, Belgium Name and address for correspondence: Vincent M. De La Porte, M.D. E-mail: Telephone: +32 3 821 4428, Address: Department of Ophthalmology, Antwerp University Hospital, 2650 Edegem, Belgium.

Purpose: To report combined central arterial and venous occlusions secondary to bilateral leukemic interfascicular optic nerve infiltration in a 56-year-old man. This was the sole presentation of a relapse in T/Myeloid mixed-phenotype acute leukemia after 5 months of remission.

Methods: Case report with clinical photography.

Results: A 56-year-old man reported to be in complete remission of T/Myeloid mixed-phenotype acute leukemia (MPAL) presented with sudden painless loss of vision in his left eye. Fundoscopy showed unilateral severe optic disc swelling with characteristic findings of a central retinal vein occlusion (CRVO), namely, intra- and preretinal haemorrhages and cotton-wool spots, as well as the features of a central retinal artery occlusion (CRAO) resulting in a pale, edematous retina and a characteristic cherry-red spot. Blood, cerebrospinal fluid evaluation and bone marrow analysis were performed in combination with medical imaging. No evidence of leukemic relapse was found. An optic nerve biopsy was indicated, due to decompensation of the contralateral eye, and ultimately confirmed leukemic infiltration.

Discussion: Regardless of no hematological and non-specific imaging findings, optic nerve biopsy may be crucial for clinical decision making in a patient with acute complete vision loss and a history of leukemia.
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September 2021

Long-Read Sequencing to Unravel Complex Structural Variants of Leading to Cone-Rod Dystrophy and Hearing Loss.

Front Cell Dev Biol 2021 21;9:664317. Epub 2021 Apr 21.

Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

Inactivating variants as well as a missense variant in the centrosomal gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome. Apart from this, a complex structural variant (SV) implicating has been reported in CRDHL. Here we aimed to expand the genetic architecture of typical CRDHL by the identification of complex SVs of the region and characterization of their underlying mechanisms. Approaches used for the identification of the SVs are shallow whole-genome sequencing (sWGS) combined with quantitative polymerase chain reaction (PCR) and long-range PCR, or ExomeDepth analysis on whole-exome sequencing (WES) data. Targeted or whole-genome nanopore long-read sequencing (LRS) was used to delineate breakpoint junctions at the nucleotide level. For all SVs cases, the effect of the SVs on expression was assessed using quantitative PCR on patient-derived RNA. Apart from two novel canonical splice variants and a frameshifting single-nucleotide variant (SNV), two SVs affecting were identified in three unrelated individuals with CRDHL: a heterozygous total gene deletion of 235 kb and a partial gene deletion of 15 kb in a heterozygous and homozygous state, respectively. Assessment of the molecular consequences of the SVs on patient's materials displayed a loss-of-function effect. Delineation and characterization of the 15-kb deletion using targeted LRS revealed the previously described complex SV, suggestive of a recurrent genomic rearrangement. A founder haplotype was demonstrated for the latter SV in cases of Belgian and British origin, respectively. The novel 235-kb deletion was delineated using whole-genome LRS. Breakpoint analysis showed microhomology and pointed to a replication-based underlying mechanism. Moreover, data mining of bulk and single-cell human and mouse transcriptional datasets, together with CEP78 immunostaining on human retina, linked the CEP78 expression domain with its phenotypic manifestations. Overall, this study supports that the locus is prone to distinct SVs and that SV analysis should be considered in a genetic workup of CRDHL. Finally, it demonstrated the power of sWGS and both targeted and whole-genome LRS in identifying and characterizing complex SVs in patients with ocular diseases.
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April 2021

Facial Pain: A Comprehensive Review and Proposal for a Pragmatic Diagnostic Approach.

Eur Neurol 2020 27;83(1):5-16. Epub 2020 Mar 27.

Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Headache and Facial Pain Clinic, Brussels, Belgium,

Background: Facial pain, alone or combined with other symptoms, is a frequent complaint. Moreover, it is a symptom situated at, more than any other pain condition, a crosspoint where several disciplines meet, for example, dentists; manual therapists; ophthalmologists; psychologists; and ear-nose-throat, pain, and internal medicine physicians besides neurologists and neurosurgeons. Recently, a new version of the most widely used classification system among neurologists for headache and facial pain, the International Classification of Headache Disorders, has been published.

Objective: The aims of this study were to provide an overview of the most prevalent etiologies of facial pain and to provide a generic framework for the neurologist on how to manage patients presenting with facial pain.

Methods: An overview of the different etiologies of facial pain is provided from the viewpoint of the respective clinical specialties that are confronted with facial pain. Key message: Caregivers should "think outside their own box" and refer to other disciplines when indicated. If not, a correct diagnosis can be delayed and unnecessary treatments might be given. The presented framework is aimed at excluding life- or organ-threatening diseases, providing several clinical clues and indications for technical investigations, and ultimately leading to the correct diagnosis and/or referral to other disciplines.
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November 2020


Retin Cases Brief Rep 2019 Oct 1. Epub 2019 Oct 1.

Faculty Department Head and Skin, Ghent University Hospital, Ghent, Belgium.

Purpose: To report a patient with generalized retinal toxicity to mitogen-activated protein inhibitors.

Methods: Retrospective case report.

Results: Full-field electroretinogram findings indicate a generalized toxicity to the use of the mitogen-activated protein inhibitor trametinib. There was an improved response and resolution of serous detachments after decreasing the dose.

Conclusion: Mitogen-activated protein inhibitors may affect global retinal function, as opposed to the serous detachments that are concentrated in the posterior pole. This may be of importance in further understanding the underlying pathologic mechanisms.
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October 2019

Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes.

Hered Cancer Clin Pract 2018 5;16. Epub 2018 Jan 5.

Department of Neurosurgery, Universitair Ziekenhuis Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.

Background: Patients with hereditary tumor syndromes undergo periodical magnetic resonance imaging (MRI) screening with Gadolinium contrast. Gadolinium accumulation has recently been described in the central nervous system after repeated administrations. The prevalence and rate of accumulation in different subgroups of patients are unknown. Neither are the mechanism nor clinical impact. This may cause uncertainty about the screening. To explore the prevalence and rate of Gadolinium accumulation in different subgroups, we retrospectively analyzed MRIs of patients with von Hippel-Lindau disease (VHL) and Tuberous Sclerosis Complex (TSC).

Methods: We determined the prevalence and rate of accumulation in the dentate nucleus and globus pallidus on unenhanced T1-weighted MRI from VHL and TSC patients. We compared the signal intensities of these regions to the signal intensity of the pons. We evaluated the impact of number of MRIs, kidney function and liver function on Gadolinium accumulation.

Results: Twenty eight VHL patients and 24 TSC patients were included. The prevalence of accumulation in the dentate nucleus and globus pallidus increased linearly according to number of Gadolinium enhanced MRIs and was higher in the VHL group (100%). A significant linear correlation between number of MRIs and increased signal intensity was observed in the VHL group.

Conclusions: Gadolinium accumulation occurs in almost all patients undergoing contrast MRI screening after >5 MRIs. We advocate a screening protocol for patients with hereditary tumor syndromes that minimizes the Gadolinium dose. This can be accomplished by using a single administration to simultaneously screen for brain, spine and/or abdominal lesions, using an MRI protocol focused on either VHL- or TSC-specific lesions. Higher prevalence and rate of accumulation in VHL patients may be explained by the typical vascular leakage accompanying central nervous system hemangioblastomas.
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January 2018

Retinal nerve fiber layer thickening in ARSACS carriers.

J Neurol Sci 2016 Nov 14;370:119-122. Epub 2016 Sep 14.

Department of Ophthalmology, University Hospital Vrije Universiteit Brussel, Brussels, Belgium. Electronic address:

Purpose: Two Caucasian Belgian families were diagnosed with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The ophthalmological findings in both ARSACS disease and carriers are described.

Methods: In addition to a complete ophthalmological assessment, in both patients and carriers, spectral-domain Optical Coherence Tomography scans of the peri-papillary retinal nerve fiber layer were performed.

Results: Molecular analysis revealed a missense mutation which has not been reported before. Besides patients with ARSACS, who also presented additional ophthalmological abnormalities i.e. eye movement problems, ARSACS carriers demonstrated thickening of the retinal nerve fiber layer.

Conclusion: The most conspicuous ophthalmological feature of ARSACS is an increased thickness of the peri-papillary retinal nerve fiber layer. Retinal striation and thickening of the nerve fiber layer on spectral-domain Optical Coherence Tomography appeared also in carriers of the ARSACS-gene. Other ophthalmological features encountered, were gaze-evoked nystagmus and rebound nystagmus.
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November 2016

Do not turn a blind eye to alkyl nitrite (poppers)!

Acta Ophthalmol 2016 Feb 14;94(1):e82-3. Epub 2015 May 14.

Department of Ophthalmology, University Hospital Vrije Universiteit Brussel, Brussels, Belgium.

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February 2016