Brown-Vialetto-Van Laere syndrome

Authors

  • DR MUHAMMAD ASHFAQ
  • DR BADER-U-NISA
  • DR AIJAZ AHMED
  • DR HIRA WASEEM

Abstract

ABSTRACT:

Brown-Vialetto-Van Laere syndrome (BVVLS) is also known as Riboflavin Transporter Deficiency (OMIM 211530) or autosomal recessive neurodegenerative disorder. It is an uncommon disease but a treatable one. The disorder may also be accompanied with progressive pontobulbar palsy. This case report is based on a patient of  twelve years girl with BVVLS. She presented with with hearing loss, facial palsy, generalized body weakness, and recurrent chest infections. Her examination revealed slurred speech with a nasal tone in her voice along with tongue fasciculation. She was also unable to close her left eye, and loss of nasolabial folds was also observed. Management included per oral riboflavin, which showed subsequent improvement in facial paralysis and overall activity.

Keywords: Brown-Vialetto-Van Laere syndrome (BVVLS), Autosomal recessive, Pontobulbar palsy, Riboflavin.

Published

2022-11-02

Issue

Vol. 46 No. 3 (2022)

Section

Case Report