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.

Child maltreatment between knowledge, attitude and beliefs among Saudi pediatricians, pediatric residency trainees and medical students.

BACKGROUND: Child maltreatment is not included in Saudi medical schools and pediatric residency curriculums, which might limit knowledge and spread misconceptions. Additionally, physicians might have different attitudes regarding reporting child abuse and neglect. In this study, we hypothesize that medical students and pediatric trainees have limited knowledge, oblivious attitude and misbeliefs regarding child maltreatment in comparison to experienced pediatricians. But, medical students and trainees might hold higher motives and willingness to learn about child maltreatment and their consequences. METHODS: A self reported questionnaire was distributed after a pilot study to include pediatricians, pediatrics trainees and medical students in all main areas of pediatrics services: pediatrics wards, pediatrics outpatient clinics, critical care and pediatrics emergency. RESULTS: In disregard to their level of training, medical students and physicians believed that child maltreatment happens within the kingdom and is common. They were familiar with the child maltreatment definition, although only one third thought it is subject to culture sensitivity. However, experienced physicians were more knowledgeable especially about neglect. Moreover, female participants were more likely to report despite being more skeptical of readiness of Saudi law system to deal with cases of maltreatment. In general, knowledge about reporting was clearly deficit at all levels. Fortunately, all participants requested and were enthusiastic to receive further training. CONCLUSION: Saudi medical students, pediatrics trainees and pediatricians have good basic knowledge, positive attitude and willingness to learn more to provide a safe environment for children in Saudi Arabia. However, knowledge in regards to reporting child maltreatment is a major observed defect. Still, further education and training are needed to combat CAN in Saudi Arabia.