Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin
-
Ozden O. Horoz
,
Neslihan O. Mungan
Abstract
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare and severe neurometabolic disease. We present two siblings with BVVLS with a novel homozygous mutation in SLC52A3 (formerly C20orf54) gene. The first sibling was admitted with respiratory insufficiency and required mechanical ventilation. After administration of a high dose of riboflavin, all his clinical symptoms were resolved, which also strongly suggested the diagnosis of BVVLS. The second sibling was also found to have the same genetic mutation as her brother. Although she was symptom-free, riboflavin was initiated empirically. On follow-up, she developed no neurologic or metabolic problems with entirely normal growth and development. BVVLS should be considered in the differential diagnosis of unexplained neurologic symptoms such as polyneuropathy and respiratory insufficiency, as BVVLS and multiple acyl-CoA dehydrogenation defect have broadly overlapping symptoms. Furthermore, our cases once again suggest that with proper diagnosis and early high-dose riboflavin treatment, complete reversal of neurologic deficits in BVVLS is possible.
References
1. Dipti S, Childs A, Livingston JH, Aggarwal AK, Miller MN, et al. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain Dev 2005;27:443–6.10.1016/j.braindev.2004.10.003Search in Google Scholar
2. Brown CH. Infantile amyotrophic lateral sclerosis of the familial type. J Nerv Ment Dis 1894;21:707–16.10.1097/00005053-189411000-00003Search in Google Scholar
3. Vialetto E. Contributoalla forma hereditariadellaparalisi bulbar progressive. Riv Sper Freniat 1936;40:1–24.Search in Google Scholar
4. Van Laere J. Familial progressive chronic bulbo-pontine paralysis with deafness. A case of Klippel-Trenaunay syndrome in siblings of the same family. Diagnostic and genetic problems. Rev Neurol 1966;115:289–95.Search in Google Scholar
5. Voudris KA, Skardoutsou A, Vagiakou EA. Infantile progressive bulbar palsy with deafness. Brain Dev 2002;24:732–5.10.1016/S0387-7604(02)00085-2Search in Google Scholar
6. Sathasivam S. Brown-Vialetto-Van Laere syndrome review. Orphanet J Rare Dis 2008;17:3−9.10.1186/1750-1172-3-9Search in Google Scholar PubMed PubMed Central
7. Hawkins SA, Nevin NC, Harding AE. Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. J Med Genet 1990;27:176−9.10.1136/jmg.27.3.176Search in Google Scholar PubMed PubMed Central
8. De Grandis D, Passadore P, Chinaglia M, Brazzo F, Ravenni R, et al. Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome. Neuromusc Disord 2005;15:565–8.10.1016/j.nmd.2005.05.003Search in Google Scholar PubMed
9. Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, et al. Brown-Vialetto-Van Laere Syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20orf54. Am J Hum Genet 2010;86:485–9.10.1016/j.ajhg.2010.02.006Search in Google Scholar PubMed PubMed Central
10. Rhead WJ, Wolff JA, Lipson M, Falace P, Desai N, et al. Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders. Pediatr Res 1987;21:371–6.10.1203/00006450-198704000-00010Search in Google Scholar PubMed
11. Antozzi C, Garavaglia B, Mora M, Rimoldi M, Morandi L, et al. Late-onset riboflavin responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency. Neurology 1994;44:2153–8.10.1212/WNL.44.11.2153Search in Google Scholar PubMed
12. Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, et al. ETFDH mutations as a major cause of riboflavin-responsive multipleacyl-CoA dehydrogenation deficiency. Brain 2007;130:2045−54.10.1093/brain/awm135Search in Google Scholar PubMed
13. Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, et al. Brown-Vialetto-Van Laere and Fazio Londesyndromeis associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis 2011;34:159−64.10.1007/s10545-010-9242-zSearch in Google Scholar PubMed PubMed Central
14. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248−9.10.1038/nmeth0410-248Search in Google Scholar PubMed PubMed Central
15. Reva B, Antipin Y, Sander C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res 2011;39:e118. doi: 10.1093/nar/gkr407.10.1093/nar/gkr407Search in Google Scholar PubMed PubMed Central
16. Sathasivam S, O’Sullivan S, Nicolson A, Tilley PJ, Shaw PJ. Brown-Vialetto-Van Laere syndrome: case report and literature review. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1:277−81.10.1080/14660820050515106Search in Google Scholar PubMed
17. Chiplonkar S, Khadilkar A, Pandit-Agrawal D, Kawade R, Kadam N, et al. Influence of micronutrient status and socioeconomic gradient on growth indices of 2−18-year-old Indian girls. J Pediatr Endocrinol Metab 2013;26:825−32.10.1515/jpem-2013-0106Search in Google Scholar PubMed
18. Moat SJ, Ashfield-Watt PA, Powers HJ, Newcombe RG, McDowell IF. Effect of riboflavin status on the homocysteine-lowering effect of folate in relation to the MTHFR (C677T) genotype. Clin Chem 2003;49:295–302.10.1373/49.2.295Search in Google Scholar PubMed
19. Anand G, Hasan N, Jayapal S, Huma Z, Ali T, et al. Early use of high dose riboflavin in a case of Brown-Vialetto-Van Laere Syndrome. Dev Med Child Neurol 2012;54:187−9.10.1111/j.1469-8749.2011.04142.xSearch in Google Scholar PubMed
©2016 by De Gruyter
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Articles in the same Issue
- Frontmatter
- REVIEW
- Obesity-associated sympathetic overactivity in children and adolescents: the role of catecholamine resistance in lipid metabolism
- MINI REVIEW
- Idiopathic infantile hypercalcemia: case report and review of the literature
- ORIGINAL ARTICLES
- Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment
- Effect of auditory guided imagery on glucose levels and on glycemic control in children with type 1 diabetes mellitus
- Kidney injury molecule-1 and neutrophil gelatinase associated lipocalin in normoalbuminuric diabetic children
- Use of the triglyceride to HDL cholesterol ratio for assessing insulin sensitivity in overweight and obese children in rural Appalachia
- Carotid intima media thickness in obese children: is there an association with hyperlipidemia?
- Schoolchildren born VLBW or VLGA show height-related changes in body composition and muscle function but no evidence of metabolic syndrome risk factors. Results from the NEOLONG study
- Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty – a case series
- Urinary myo-inositol levels in Japanese schoolchildren with normal glucose tolerance
- Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome
- Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant
- Decrease of small dense LDL and lipoprotein-associated phospholipase A2 due to human growth hormone treatment in short children with growth hormone deficiency and small for gestational age status
- Rare and curable renin-mediated hypertension: a series of six cases and a literature review
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- Vulvar fetal rhabdomyoma mimicking 46XX sex differentiation disorder
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- Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin
- Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant
- Thyrotropin-secreting pituitary adenoma in an 11-year-old boy with type 1 autoimmune polyglandular syndrome
- Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations
