Surgical considerations in Labrune syndrome

Kobets, Andrew J.; Oriko, David; Groves, Mari L.; Robinson, Shenandoah; Cohen, Alan M.

doi:10.1007/s00381-020-04861-7

Cited by 7 publications

(3 citation statements)

References 28 publications

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“…The main symptomatic treatments are cystic surgical procedures such as cystic puncture, cystic resection, and cysto-ventriculoperitoneal shunting. Up until 2021, two patients were treated with Ommaya reservoir placement in cyst ( 7 , 8 ), where both patients achieved marked improvements in motor function. The limb muscle strength of our patient also improved within one week of the placement of the Ommaya reservoir at low risk, indicating that this approach could be prioritized when motor-associated structures such as pyramidal tracts and basal ganglia, were compressed.…”

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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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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“…No standard treatment paradigm for LCC has yet been described, with currently available options aimed at the symptomatic management of disease complications such as motor impairment, epilepsy, and intracranial hypertension. Thus, as one example, in patients with progressive symptoms and/or growing lesions on imaging studies, cystic surgical procedures (cystic puncture, cystic resection, cysto-ventriculoperitoneal shunting) are used to manage intracranial hypertension ( 8 ).…”

Section: Introductionmentioning

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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“…T-shaped shunts dilute the contents of the cyst with cerebrospinal fluid, which reduces the chance of blockage and may be a good solution [9]. Surgical excision of the cyst is another treatment option, however, cyst drainage is a less invasive procedure and has demonstrated better clinical outcomes [10]. We did not consider cyst excision because, based on anatomical location, the largest cysts were situated close to the sensorimotor and language areas (figure 2A-D).…”

mentioning

confidence: 99%

Leukoencephalopathy with calcifications and cysts: a case study with long‐term follow‐up

Lomidze¹,

Chutkerashvili²,

Tskhvaradze

et al. 2022

Epileptic Disorders

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Surgical considerations in Labrune syndrome

Cited by 7 publications

References 28 publications

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

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

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

Leukoencephalopathy with calcifications and cysts: a case study with long‐term follow‐up

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