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

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.

Factors Associated with Not Breastfeeding and Delaying the Early Initiation of Breastfeeding in Mecca Region, Saudi Arabia.

The objective of the study was to find the determinants related to not breastfeeding (BF) and others related to the delay in the early initiation of BF in the Mecca region, Saudi Arabia. A cross-sectional study in the Maternity and Children Hospital and primary healthcare centers was performed. A questionnaire was filled by dietitians to 814 asymptomatic Saudi mothers. Determinants related to not BF and the delay in the early initiation of BF were determined by binary logistic regression, and the odds ratio (OR) and 95% confidence interval (CI) were determined. Significant factors associated with not BF were not rooming-in infants in the mother's room (OR: 2.37; 95% CI: 1.66-3.41) and using a pacifier (OR: 1.62; 95% CI: 1.13-2.33). The most significant determinant of the early initiation of BF was the initiation of bottle feeding (OR: 18.16; 95% CI: 10.51-31.4), followed by not rooming-in infants in the mother's room (OR: 2.2; 95% CI: 1.52-3.18), initiation of partial feeding (OR: 1.89; 95% CI: 1.3-2.74), uninformed mothers regarding the importance of BF (OR: 1.56; 95% CI: 1.04-2.35), and cesarean sections (OR:1.42; 95% CI: 1.02-1.98). Risk factors affecting BF and the early initiation of BF in Mecca City should be highlighted in national campaigns to increase mothers' awareness and promote BF practice.