title: Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.
abstract: We report the case of a previously healthy child presenting at 6 months of age with mild feeding difficulties and then developing hypotonia, progressive bulbar palsy with respiratory compromise and lower motor neuron signs, causing her to spend 4 months in the Paediatric Intensive Care Unit. Neurophysiological studies demonstrated a motor neuronopathy involving anterior horn cells and cranial nerve nuclei and abnormal brainstem auditory evoked potentials, leading to a diagnosis of Brown-Vialetto-van Laere Syndrome, confirmed by genetic testing (SLC52A3). Magnetic Resonance Imaging showed signal changes in the dorsal column of the spinal cord. She developed a coarse face and abnormal hair pattern. Sustained clinical improvement has been observed during almost 4 years of high-dose riboflavin therapy.
authors.affiliation: Neurology Department, Great Ormond Street Hospital for Children, London, UK. Electronic address: carlotta.spagnoli@gmail.com.
authors.forename: Carlotta
authors.initials: C
authors.lastname: Spagnoli
authors.affiliation: Neurophysiology Department, Great Ormond Street Hospital for Children, London, UK.
authors.forename: Matthew C
authors.initials: MC
authors.lastname: Pitt
authors.affiliation: Metabolic Department, Great Ormond Street Hospital for Children, London, UK; Mitochondrial Research Group, UCL Institute of Child Health, London, UK.
authors.forename: Shamima
authors.initials: S
authors.lastname: Rahman
authors.affiliation: Neurology Department, Great Ormond Street Hospital for Children, London, UK.
authors.forename: Carlos
authors.initials: C
authors.lastname: de Sousa
mesh_terms: D010244:Bulbar Palsy, Progressive / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics*; D002648:Child; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics*; D006801:Humans; D007223:Infant; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D012256:Riboflavin / Q000627:therapeutic use*
chemical_list: D026901:Membrane Transport Proteins; C548553:SLC52A3 protein, human; D012256:Riboflavin
keywords: Brown-Vialetto-van Laere syndrome; Coarse face; DTI; Kinky hair; Riboflavin; SLC52A3; hRFT2