Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab

Martínez-Matilla, Marina; Ferre-Fernández, Jesús-José; Aparisi, María José; Marco‐Hernández, Ana Victoria; Cerón, Juan Antonio; Crow, Yanick J.; Martínez-Castellano, F; Tomás‐Vila, Miguel; Pedrola, Laia

doi:10.1016/j.pediatrneurol.2020.07.011

Cited by 9 publications

(7 citation statements)

References 6 publications

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“…Similarly, Martinez-Matilla attempted bevacizumab treatment in a 19-month-old with LCC. Radiological improvement was noted, but there were no clinical improvements [6] . Nevertheless, there is no cure for LCC, but symptoms can at least be managed by controlling mass effect.…”

Section: Discussionmentioning

confidence: 92%

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Leukoencephalopathy, calcifications, and cysts: Labrune syndrome

Waack¹,

Norris²,

Becker³

et al. 2023

Radiology Case Reports

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Section: Discussionmentioning

confidence: 92%

“…Treatments are aimed at providing symptomatic relief, including surgical removal of cysts, antiepileptics, and antipsychotics [4] . Interestingly, vascular endothelial growth factor (VEGF) has been used experimentally with some success in a few cases [ 6 , 7 ].…”

Section: Introductionmentioning

confidence: 99%

Leukoencephalopathy, calcifications, and cysts: Labrune syndrome

Waack¹,

Norris²,

Becker³

et al. 2023

Radiology Case Reports

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“…These observations lead us to suggest that further studies are warranted to determine if there could be a cumulative effect of therapy, or a therapeutic window-dependent effect. We also speculate that genotype could modulate pharmacological response, noting that the patient homozygous for a n.8G > C mutation in SNORD118 , which is rare and can be associated with a more severe clinical phenotype ( 3 ), showed no clinical response to treatment ( 11 ).…”

Section: Discussionmentioning

confidence: 99%

Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab

Scaffei,

Buchignani,

Pasquariello

et al. 2023

Front. Neurol.

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Leukoencephalopathy with Calcifications and Cysts (LCC) is a rare genetic microangiopathy exclusively affecting the central nervous system caused by biallelic mutations in SNORD118. Brain magnetic resonance imaging (MRI) is often diagnostic due to the highly characteristic triad of leukoencephalopathy, intracranial calcifications, and brain cysts. Age at onset, presentation and disease evolution can all vary, ranging from pauci-symptomatic disease to rapid evolution of signs with loss of motor and cognitive abilities. No specific therapies for LCC are currently licensed. According to the literature, bevacizumab might represent an effective modality to improve the clinical and MRI features of the disease. However, uncertainty remains as to the true efficacy of this approach, when to begin therapy, appropriate dosing, and the consequences of drug withdrawal. According to CARE guidelines, we describe the long-term clinical and neuro-radiological follow-up of a 10-year-old child with LCC. We report disease evolution following repeated cycles of treatment with bevacizumab. Our case report suggests that repeated cycles of bevacizumab might effectively modify disease progression, possibly indicating a time-dependent effect.

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“…Additionally, Bevacizumab was discovered to profoundly reduce retinal edema and exudates in CPS ( 9 , 10 ). Inspired by the success in proliferative neovascular eye diseases as well as the common microvascular pathology between LS and CPS, Fay et al ( 3 ) reported that Bevacizumab improved bradykinesia and range of motion in a patient with early-onset LS, and partly reversed cysts and white matter lesions on MR while Martínez-Matilla et al ( 11 ) reported an infant with LS showed apparent radiological improvements with unchanged clinical status after receiving Bevacizumab. By contrast, although our case demonstrated minimal radiological alterations, suggesting irreversibility on imaging for late-onset patients, long-term clinical improvements especially in cognition, even after discontinuation of Bevacizumab, were impressive and encouraging.…”

Section: Discussionmentioning

confidence: 99%

Case report: Moderate therapeutic response to Bevacizumab in late-onset Labrune syndrome

Wang

et al. 2022

Front. Neurol.

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Labrune syndrome (LS) is caused by SNORD118 gene mutations with a particular neuroimaging of white matter disease, intracranial calcification, and cysts. There was no effective treatment until now. An 18-year-old man with infancy-onset LS was first treated with vascular endothelial growth factor (VEGF) inhibitor Bevacizumab for 1 year, resulting in significant clinical and radiological improvements. We adopted a similar regimen in a patient with late-onset LS and demonstrated moderate cognitive improvements but without changes in imaging. As such, Bevacizumab could potentially be clinically effective in adult-onset LS with great safety.

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Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab

Cited by 9 publications

References 6 publications

Leukoencephalopathy, calcifications, and cysts: Labrune syndrome

Leukoencephalopathy, calcifications, and cysts: Labrune syndrome

Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab

Case report: Moderate therapeutic response to Bevacizumab in late-onset Labrune syndrome

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