Cor pulmonale in a patient with Brown–Vialetto–Van Laere syndrome: A case report

Silva‐Júnior, Francisco Pereira da; Moura, Rafael de Deus; Rosemberg, Sérgio; Marchiori, Paulo Eurípedes; Castro, Luiz Henrique Martins

doi:10.1016/j.jns.2010.10.010

Cited by 4 publications

(2 citation statements)

References 14 publications

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“…Several cardiac complications have been reported due to the hypoxia caused by respiratory insufficiency, diaphragmatic weakness or prolonged seizures. 14 The cardiac finding of our patient, non-compaction of the left ventricle, has not been previously reported among patients with BVVLS. Left ventricular non-compaction is a rare manifestation of mitochondrial disorders mostly related with mitochondrial complex II deficiencies and Barth syndrome.…”

Section: Discussioncontrasting

confidence: 42%

Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders

Yılmaz¹,

Ceylaner²,

Mungan³

2021

Turk J Pediatr

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Background. Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with a variable clinical presentation, caused by mutations in three different riboflavin transporter genes.Case. An 11-year-old-boy presented with respiratory insufficiency and a rapidly progressive muscle weakness. He was the fifth child of a consanguineous marriage with a medical history of hearing loss. He was peripherally week with a reduced muscle tone. Upper extremity muscles were effected more than lower limbs. He deteriorated rapidly and became quadriplegic. Brain magnetic resonance imaging and magnetic resonance spectroscopy were normal. Echocardiography revealed left ventricular non-compaction. A homozygous c.1088C>T (p.363L) missense mutation was identified in SLC52A2 gene. Significant clinical improvement was seen with high dose riboflavin.Conclusion. This is the first reported BVVLS case presented with left ventricle-non compaction which may be caused by a secondary respiratory chain deficiency. Riboflavin transporter deficiencies should be considered in the differential diagnosis of mitochondrial disorders and secondary respiratory chain deficiencies should be thought during the follow-up of BVVLS.

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Section: Discussioncontrasting

confidence: 42%

Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders

Yılmaz¹,

Ceylaner²,

Mungan³

2021

Turk J Pediatr

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“…Group 2 contains 21 patients with a presenting age range of 4 through 10 years and group 3 contains 28 patients with a presenting age range of 11 through 17 years. Because four other patients were reported as “presenting in childhood”, they could not be included in one particular group, but were included when we report on data of the complete patient group [14,20,24,30]. …”

Section: Resultsmentioning

confidence: 99%

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Bosch

Stroek

Abeling

et al. 2012

Orphanet J Rare Dis

122

141

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The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity. Recently it was demonstrated that in some patients the disease is caused by mutations in the SLC52A3 gene which encodes the intestinal (hRFT2) riboflavin transporter. In these patients riboflavin deficiency is the cause of the BVVL/FL syndrome and supplementation of riboflavin proved a life saving treatment. Mutations in the SLC52A2 gene and the SLC52A1 (GPR172B) gene, coding for human riboflavin transporters hRFT3 and hRFT1 have been associated with the BVVL syndrome as well. We performed a review of the literature, with emphasis on the natural history and the effects of treatment in these patients. A total of 35 publications were traced reporting on the clinical presentation of 74 patients who presented before age 18. The most prevalent symptoms were bulbar palsy, hearing loss, facial weakness and respiratory compromise. Death was reported in 28 of the 61 untreated patients, with a very low survival in patients presenting before age 4. All 13 patients who were treated with riboflavin survived, with a strong clinical improvement after days to months of treatment in eight patients. Three patients demonstrated a stable clinical course and treatment was stopped early in two patients. Abnormalities in plasma flavin levels and/or plasma acylcarnitine profiles were observed in some but not in all patients, and also patients with normal plasma flavin levels and acylcarnitine profiles demonstrated a striking clinical improvement on riboflavin supplementation. It is now clear that proper diagnosis requires mutation analysis of all three transporter genes and treatment should be started immediately without first awaiting results of molecular analysis. Clinical improvement may be rapid or gradual over a period of more than 12 months.

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Large-scale whole-genome sequencing of the Icelandic population

et al. 2015

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Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels). We describe the density and frequency spectra of sequence variants in relation to their functional annotation, gene position, pathway and conservation score. We demonstrate an excess of homozygosity and rare protein-coding variants in Iceland. We imputed these variants into 104,220 individuals down to a minor allele frequency of 0.1% and found a recessive frameshift mutation in MYL4 that causes early-onset atrial fibrillation, several mutations in ABCB4 that increase risk of liver diseases and an intronic variant in GNAS associating with increased thyroid-stimulating hormone levels when maternally inherited. These data provide a study design that can be used to determine how variation in the sequence of the human genome gives rise to human diversity.

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Cor pulmonale in a patient with Brown–Vialetto–Van Laere syndrome: A case report

Cited by 4 publications

References 14 publications

Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders

Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Large-scale whole-genome sequencing of the Icelandic population

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