International Journal of
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Case Report Volume 10 Issue 2
A rare cause of congenital hypotonia and bulbar palsy: a case of brown-vialetto-van laere syndrome type 1 in infancy
Wesley Alfredo Gawlinski de Arruda, Daniela Rigo, Lianna S Facco, Helen Luiza Silvestrini, Leandra de Oliveira Rigo
Received: February 15, 2026 | Published: March 27, 2026
Citation: Arruda WAG, Rigo D, Facco LS, et al. A rare cause of congenital hypotonia and bulbar palsy: a case of brown-vialetto-van laere syndrome type 1 in infancy. Int J Fam Commun Med. 2026;10(2):65-67. DOI: 10.15406/ijfcm.2026.10.00414
Abstract
This report describes the case of a pediatric patient, aged 9 months, presenting with delayed motor development, trunk and limb hypotonia, epileptic seizures, and hypoactive deep tendon reflexes. Genetic investigation identified a homozygous variant in the SLC52A3 gene, associated with Brown-Vialetto-van Laere Syndrome type 1 (BVVL1), a rare condition characterized by motor neuropathy, bulbar palsy, and sensorineural deafness. The patient underwent multiple interventions, including tracheostomy, gastrostomy, and high-dose riboflavin therapy. Despite clinical stabilization, challenges related to intestinal dysmotility and episodes of desaturation persist. The case reinforces the importance of early diagnosis and multidisciplinary management in rare diseases.
Keywords: brown-vialetto-van laere syndrome, congenital hypotonia, bulbar palsy, riboflavin, SLC52A3, case report
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