Leukoencephalopathy, calcifications, and cysts: Labrune syndrome

Waack, Andrew; Norris, Jordan; Becker, Kathryn; Hoyt, Alastair T.; Schroeder, J.

doi:10.1016/j.radcr.2022.11.026

Cited by 4 publications

(6 citation statements)

References 17 publications

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“…Further studies are required to elucidate the course of the disease and enunciate the treatment plan. To date, approximately 9-11 case reports have been published, with about 100 reported cases [ 8 , 9 ]. This disease is the first example of a point mutation in a C/D box snoRNA in human disease.…”

Section: Discussionmentioning

confidence: 99%

Labrune Syndrome: A Rare Leukodystrophy

Nair,

Swamiyappan,

Bathala

et al. 2023

Cureus

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Labrune syndrome is a rare neurological disorder, with less than 100 reported cases since its identification. This disorder causes progressive cerebral degeneration. This case report describes a 21-year-old male patient who presented with tonic-clonic seizures. Upon examination, he was found to have symmetrical dense calcifications in the bilateral basal ganglia, thalami, and dentate nuclei, as well as in the white matter of both hemispheres, accompanied by cysts. MRI brain revealed confluent areas of T2/FLAIR hyperintensities involving the deep periventricular white matter in both cerebral hemispheres with sparing of subcortical U-fibres and two cysts in the left frontal and right posterior temporal region. No serologic evidence of a parasitic infection was found. Treatment was directed at addressing symptoms, and surgery was not required as the cysts were not causing a mass effect. The condition is the result of an autosomal mutation in the SNORD118 gene, a non-protein encoding gene that mediates rRNA synthesis.

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Section: Discussionmentioning

confidence: 99%

Labrune Syndrome: A Rare Leukodystrophy

Nair,

Swamiyappan,

Bathala

et al. 2023

Cureus

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Section: Imaging Presentations: Difference From Childhood Leukodystro...mentioning

confidence: 99%

“…LCC or Labrune syndrome (MIM # 614561) is characterized by the neuroimaging triad of leukoencephalopathy, parenchymal calcifications, and cysts ( 87 ). LCC occurs as a result of cerebral microangiopathy with autosomal recessive inheritance due to biallelic pathogenic variants in the SNORD118 gene ( 87 ). The age at which symptoms appear varies greatly, and symptom onset as late as age 70 has been described, though most affected individuals manifest with some symptoms by adolescence or early adulthood.…”

Section: Imaging Presentations: Difference From Childhood Leukodystro...mentioning

confidence: 99%

“…The age at which symptoms appear varies greatly, and symptom onset as late as age 70 has been described, though most affected individuals manifest with some symptoms by adolescence or early adulthood. Clinical manifestations are seizures, progressive pyramidal, extrapyramidal, cerebellar signs, increased intracranial pressure, ischemic, and hemorrhagic strokes ( 87 , 88 ). Acute or subacute worsening due to hemorrhage and mass effect due to enlargement of cysts can occur rarely, warranting surgical intervention ( 88 ).…”

Section: Imaging Presentations: Difference From Childhood Leukodystro...mentioning

confidence: 99%

“…Typical neuroimaging findings are asymmetric scattered cysts of varying shapes and sizes, calcifications, and white matter changes in subcortical white matter, basal ganglia, thalamus, and cerebellum ( Figure 12 ). Careful review of gradient echo sequences, or a CT scan is warranted to identify the calcifications ( 87 ). Astrocytomas and parasitic infections such as neurocysticercosis are the differentials to be considered in the appropriate clinical scenario.…”

Section: Imaging Presentations: Difference From Childhood Leukodystro...mentioning

confidence: 99%

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Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions

Muthusamy¹,

Sivadasan²,

Dixon³

et al. 2023

Front. Neurol.

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Adult-onset leukodystrophies though individually rare are not uncommon. This group includes several disorders with isolated adult presentations, as well as several childhood leukodystrophies with attenuated phenotypes that present at a later age. Misdiagnoses often occur due to the clinical and radiological overlap with common acquired disorders such as infectious, immune, inflammatory, vascular, metabolic, and toxic etiologies. Increased prevalence of non-specific white matter changes in adult population poses challenges during diagnostic considerations. Clinico-radiological spectrum and molecular landscape of adult-onset leukodystrophies have not been completely elucidated at this time. Diagnostic approach is less well-standardized when compared to the childhood counterpart. Absence of family history and reduced penetrance in certain disorders frequently create a dilemma. Comprehensive evaluation and molecular confirmation when available helps in prognostication, early initiation of treatment in certain disorders, enrollment in clinical trials, and provides valuable information for the family for reproductive counseling. In this review article, we aimed to formulate an approach to adult-onset leukodystrophies that will be useful in routine practice, discuss common adult-onset leukodystrophies with usual and unusual presentations, neuroimaging findings, recent advances in treatment, acquired mimics, and provide an algorithm for comprehensive clinical, radiological, and genetic evaluation that will facilitate early diagnosis and consider active treatment options when available. A high index of suspicion, awareness of the clinico-radiological presentations, and comprehensive genetic evaluation are paramount because treatment options are available for several disorders when diagnosed early in the disease course.

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