Compliance with riboflavin treatment in a patient with late-diagnosed Brovn-Vialetto-Van Laere syndrome

Brovn-Vialetto-Van Laere syndrome is an autosomal recessive disorder characterized by progressive pontobulbar palsy and sensorineural hearing loss. An 8-year-old patient with Brovn-Vialetto-Van Learre syndrome, who developed inability to walk, speak, swallow, respiratory failure and whose motor functions improved after long-term riboflavin treatment, is presented in this article.

The male patient was admitted to our hospital due to inability to walk, inability to hold his head, and difficulty in swallowing. Three months ago, weakness in the arms and legs and difficulty in swallowing developed. The patient was born at term in the hospital with normal vaginal delivery. It was determined that progressive hearing loss developed when the patient was 4 years old. In examination, conscious, unable to speak, following objects, good eye contact. Head coordination is poor. Muscle strength was 3/5 in the upper extremities and 2/5 in the lower extremities. DTR were absent and pathological reflexes were negative. There was difficulty in swallowing. EMG was consistent with diffuse anterior horn involvement. Cranial and cervical MR were normal. Eye examination revealed bilateral optic atrophy. Bilateral hearing loss was detected. Riboflavin-responsive neuropathy, the SLC52A2 c.1088C>T mutation was found to be homozygous. Heterozygous mutations were detected in the mother, father and siblings. The patient was diagnosed with Brown Vialetto Van Leare syndrome, was started on high-dose riboflavin. In the follow-up of the patient, who was given respiratory support with mechanical ventilator for four months, after treatment of riboflavine, head control was performed, muscle weakness gradually improved, and he was discharged without respiratory support.
Keywords: Riboflavin, Brovn-Vialetto-Van Laere syndrome