Labrune syndrome: A unique leukoencephalopathy

Pahuja, Leena; Patraş, E; Sureshbabu, Sachin; Parkhe, Nittin; Khanna, Laxmi

doi:10.4103/0972-2327.192386

Cited by 9 publications

(5 citation statements)

References 6 publications

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“…In the case of probable LCC, differential diagnoses should essentially include Coat's plus disease ( CTC1 gene mutation), for which, similar to Labrune syndrome, brain calcifications and cystic lesions are characteristic features. However, in contrast to LCC, retinal telangiectasia, osteopenia, gastrointestinal haemorrhage, haematological damage, and portal hypertension are typical features of Coat's plus disease [5-7]. In the present case, genetic testing could not be performed because of the patient's refusal.…”

Section: Figurementioning

confidence: 65%

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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Section: Figurementioning

confidence: 65%

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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“…Coats plus syndrome presents with LCC along with bilateral retinal telangiectasis [ 7 ]; however, our patient had a normal ophthalmological evaluation. LCC is characterized by various clinical manifestations such as cognitive decline, convulsive seizures, and pyramidal, extrapyramidal, and cerebellar signs [ 5 ]. These clinical features can appear as early as infancy.…”

Section: Discussionmentioning

confidence: 99%

“…Theories have postulated that obliterative microangiopathy leads to necrosis which in turn leads to the formation of cysts. The calcification seen is dystrophic [ 3 , 5 ]. Inherent alterations in the water content have been hypothesized to cause the changes seen in the white matter tracts rather than a primary pathology involving myelin [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

“…The calcification seen is dystrophic [ 3 , 5 ]. Inherent alterations in the water content have been hypothesized to cause the changes seen in the white matter tracts rather than a primary pathology involving myelin [ 5 ]. We report a case of leukoencephalopathy with brain calcifications and cysts (LCC, also known as Labrune syndrome) and discuss the findings.…”

Section: Introductionmentioning

confidence: 99%

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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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“…Therefore, genetic testing is crucial for the final diagnosis. Next to clinical findings and neuroimaging studies [ 13 , 14 , 15 , 16 ], genetics has significantly contributed to the explanation of the etiology of the syndrome.…”

Section: Discussionmentioning

confidence: 99%

Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome

Machnikowska-Sokołowska

Pilch

Paprocka

et al. 2020

Brain Sciences

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Leukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and histopathological findings. Differential diagnosis included a wide spectrum of diseases. Finally, in 2016, genetic mutation in the SNORD118 gene was confirmed to cause Labrune syndrome. The authors describe a case of a teenage girl with progressive headaches, without developmental delay, presenting with calcifications and white matter abnormality in neuroimaging. Follow-up studies showed the progression of leukoencephalopathy and cyst formation. The first symptoms and initial imaging results posed diagnostic challenges. The final diagnosis was established based on genetic results. The authors discuss the possible therapy of LCC with Bevacizumab.

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Labrune syndrome: A unique leukoencephalopathy

Cited by 9 publications

References 6 publications

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

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

Labrune Syndrome: A Rare Leukodystrophy

Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome

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