Leukoencephalopathy, Cerebral Calcifications, and Cysts in Two Sisters

Ogles, Richard L.; Joshi, Christopher L.; Miller, Douglas C.; Litofsky, N. Scott; Travis, Mark D.

doi:10.1016/j.pediatrneurol.2014.06.007

Cited by 15 publications

(10 citation statements)

References 8 publications

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“…Previous pathologic studies of brain biopsies of individuals with LCC suggested a constitutional and diffuse cerebral microangiopathy. 1,5 -8 This has been a consistent finding amongst reports, with description of angiomatous-like changes, microcalcifications, and microhemorrhages. 1,5 -8 Neuroimaging modalities, such as magnetic resonance imaging (MRI) with diffusion weighted imaging, confirm that there is breakdown of the blood-brain barrier.…”

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confidence: 84%

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Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description

et al. 2020

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Leukoencephalopathy with calcifications and cysts (LCC) is a neurological syndrome recently associated with pathogenic variants in SNORD118. We report autopsy neuropathological findings from an individual with genetically confirmed LCC. Histologic studies included staining of formalin-fixed paraffin-embedded tissue sections by hematoxylin and eosin, elastic van Gieson, and luxol fast blue. Immunohistochemistry stains against glial fibrillary acidic protein, proteolipid protein, phosphorylated neurofilament, CD31, alpha-interferon, LN3, and inflammatory markers were performed. Gross examination revealed dark tan/gray appearing white matter with widespread calcifications. Microscopy revealed a diffuse destructive process due to a vasculopathy with secondary ischemic lesions and mineralization. The vasculopathy involved clustered small vessels, resembling vascular malformations, and sporadic lymphocytic infiltration of vessel walls. The white matter was also diffusely abnormal, with concurrent loss of myelin and axons, tissue rarefaction with multifocal cystic degeneration, and the presence of foamy macrophages, secondary calcifications, and astrogliosis. The midbrain, pons, and cerebellum were diffusely involved. It is not understood why variants in SNORD118 result in a disorder that predominantly causes neurological disease and significantly disrupts the cerebral vasculature. Clinical and radiological benefit was recently reported in an LCC patient treated with Bevacizumab; it is important that these patients are rapidly diagnosed and trial of this treatment modality is considered in appropriate circumstances.

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confidence: 84%

“…6,10 There is no evidence of amyloid deposition or malignancy. 8,11 Rosenthal fibers, gliosis, and white matter loss are other characteristic features of this disorder. 1,5 -8 Cystic masses often require neurosurgical referral and intervention for symptomatic relief and may affect the cerebrum or the cerebellum.…”

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confidence: 99%

Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description

et al. 2020

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“…Extensive calcifications and absence of any abnormal blood vessels. Seizures, learning disability Y – Ogles et al 2014 [ 4 ] 19 M – Low-density cysts with high-density ring and bilateral calcifications. Extensive leukoencephalopathy.…”

Section: Case Presentationmentioning

confidence: 99%

“… Extensive gliosis with Rosenthal fibers, abnormal thick-walled congo-red negative and acid-Schiff positive blood vessels, rarefied microcystic foci, and a larger cyst with abundant hemosiderin along the wall. Left hemiparesis postpartum and 1 week of headache N Resection of a cyst Ogles et al 2014 [ 4 ] 26 M Normal protein + glucose, slightly increased pyruvate Bilateral symmetric calcifications at basal ganglia, thalamus, cerebellum, triventricular hydrocephalus, cerebral edema. Additionally, cystic peripherally enhancing cerebellar and thalamic masses on the left side; hypointense on T1 and hyperintense on T2; calcified focus near cyst.…”

Section: Case Presentationmentioning

confidence: 99%

“…The disease may be fatal within several years after diagnosis, most often due to intracerebral bleeding, but may also remain stable for years. Regarding the etiology, a recent report on two sisters with histopathologically confirmed LCC indicates that this is a genetic and possibly autosomal recessive disorder [ 4 ]. Here, we present another case of an adult-onset patient with histopathologically confirmed LCC, in which characteristic findings are described and set in relation to the available literature.…”

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confidence: 99%

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Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature

et al. 2016

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BackgroundLeukoencephalopathy with calcifications and cysts (LCC or Labrune disease) is a relatively recently defined and exceptionally rare disease in which parenchymal cysts and calcifications within a widespread leukoencephalopathy can cause a broad spectrum of neurological symptoms. The cause of the disease is unknown. Manifestation is usually in childhood or adolescence, while onset in adulthood has been described in 19 cases.Case presentationHere we report a case of an adult-onset LCC of a Caucasian woman who became symptomatic at age 70 as confirmed by typical neuroimaging and neuropathological findings. After resection of left mesioparietal space-occupying cystic brain tissue the patient has so far remained clinically stable during one year of follow-up with a continuous treatment with glucocorticosteroids.ConclusionTo our knowledge this report of a patient who became symptomatic at age 70 represents the oldest age-at-onset case of LCC described so far.

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Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review

et al. 2021

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Ribosomopathies are rare, recently defined entities. One of these, Labrune syndrome, is recognisable radiologically by its distinctive triad of leukoencephalopathy, intracranial calcifications and cysts (LCC). These cysts may have neurosurgical implications at different ages because of their progressive expansion and local mass effect. The aetiology of LCC is related to a widespread cerebral microangiopathy and is due to a genetic mutation in SNORD118, responsible for stabilisation of the large ribosomal subunit during assembly.

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Leukoencephalopathy, Cerebral Calcifications, and Cysts in Two Sisters

Cited by 15 publications

References 8 publications

Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description

Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description

Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature

Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review

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