Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia.

Autor:	Kentab AY; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Alsalloum Y; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Labani M; Pediatric Intensive Care Unit, Department of Pediatrics, King Khalid University Hospital, King Saud University Medical City, Riyadh, Saudi Arabia., Hudairi A; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Hamad MH; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Jamjoom DZ; Department of Radiology and Medical Imaging, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Alwadei AH; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.; Pediatric Neurology Department, National Neuroscience Institute, King Fahd Medical City, Riyadh, Saudi Arabia., Alhammad RM; Department of Internal Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Bashiri FA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.
Jazyk:	angličtina
Zdroj:	Frontiers in pediatrics [Front Pediatr] 2024 Apr 30; Vol. 12, pp. 1377515. Date of Electronic Publication: 2024 Apr 30 (Print Publication: 2024).
DOI:	10.3389/fped.2024.1377515
Abstrakt:	Background: Brown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin transporter genes SLC52A2 and SLC52A3. BVVL syndrome has a variable age of presentation, and it is characterized by progressive auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise secondary to diaphragmatic and vocal cord paralysis. BVVL syndrome has a poor prognosis in the absence of treatment, including morbidity with quadriparesis and sensorineural hearing loss, with mortality in the younger age group. Early administration of riboflavin is associated with prolonged survival, low morbidity, and reversal of some clinical manifestations. Case Presentation: We describe an 18-month-old male infant with progressive pontobulbar palsy, loss of developmental milestones, and a clinical picture suggestive of chronic inflammatory demyelinating neuropathy. A nerve conduction study revealed axonal neuropathy, while molecular analysis revealed a homozygous mutation in one of the riboflavin transporter genes, SLC52A3, confirming BVVL syndrome. The patient needed long-term respiratory support and a gastrostomy tube to support feeding. With high-dose riboflavin supplementation, he experienced moderate recovery of motor function. Conclusion: This report highlights the importance of considering BVVL syndrome in any patient who presents with the clinical phenotype of pontobulbar palsy and peripheral axonal neuropathy, as early riboflavin treatment may improve or halt disease progression, thus reducing the associated mortality and morbidity. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (© 2024 Kentab, Alsalloum, Labani, Hudairi, Hamad, Jamjoom, Alwadei, Alhammad and Bashiri.)
Databáze:	MEDLINE
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