Article: Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance

A female with the Brown-Vialetto-Van Laere syndrome is described. The patient's father, a paternal uncle, and possibly a paternal first cousin had neurosensory deafness and a paternal aunt had clinical symptoms indicative of the syndrome. This family raises the possibility that the disorder is genetically heterogeneous with autosomal recessive and autosomal dominant forms. Alternatively, it could be caused by a mutant gene on the X chromosome.

Citing Articles

Altered cytoskeletal arrangement in induced pluripotent stem cells (iPSCs) and motor neurons from patients with riboflavin transporter deficiency.

Niceforo A, Marioli C, Colasuonno F, Petrini S, Massey K, Tartaglia M Dis Model Mech. 2021; .

PMID: 33468503 PMC: 7927654. DOI: 10.1242/dmm.046391.

Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases.

Udhayabanu T, Manole A, Rajeshwari M, Varalakshmi P, Houlden H, Ashokkumar B J Clin Med. 2017; 6(5).

PMID: 28475111 PMC: 5447943. DOI: 10.3390/jcm6050052.

SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.

Udhayabanu T, Subramanian V, Teafatiller T, Gowda V, Raghavan V, Varalakshmi P Clin Chim Acta. 2016; 462:210-214.

PMID: 27702554 PMC: 5521005. DOI: 10.1016/j.cca.2016.09.022.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley A, Menezes M, Pandraud A, Gonzalez M, Al-Odaib A, Abrams A Brain. 2013; 137(Pt 1):44-56.

PMID: 24253200 PMC: 3891447. DOI: 10.1093/brain/awt315.

Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings.

Yadegari S, Ghorbani A, Dezfouli M, Nafissi S Iran J Neurol. 2013; 10(3-4):54-7.

PMID: 24250848 PMC: 3829227.

References

1.

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 (Paris). 1966; 115(2):289-95. View

2.

TRILLET M, GIRARD P, Schott B, RAMEL P, WOEHRLE R . [Chronic progressive bulbo-pontine paralysis with deafness (a clinical case)]. Lyon Med. 1970; 223(3):145-53. View

3.

ARNOULD G, Tridon P, LAXENAIRE M, Picard L, Weber M, Brichet B . [Chronic progressive bulbo-pontine paralysis with deafness: a case of Fio-Londe syndrome]. Rev Otoneuroophtalmol. 1968; 40(3):158-61. View

4.

Gallai V, HOCKADAY J, Hughes J, Lane D, Oppenheimer D, RUSHWORTH G . Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome). J Neurol Sci. 1981; 50(2):259-75. DOI: 10.1016/0022-510x(81)90172-6. View

5.

Serratrice G, Gastaut J . [Degenerative amyotrophies and lesions of the motor neuron (apropos of 32 cases)]. Mars Med. 1972; 109(12):821-40. View

Pontobulbar Palsy and Neurosensory Deafness (Brown-Vialetto-Van Laere Syndrome) with Possible Autosomal Dominant Inheritance