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Eur J Paediatr Neurol. 2014 Mar;18(2):231-4. doi: 10.1016/j.ejpn.2013.09.006. Epub 2013 Oct 16.

Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.

Author information

1
Neurology Department, Great Ormond Street Hospital for Children, London, UK. Electronic address: carlotta.spagnoli@gmail.com.
2
Neurophysiology Department, Great Ormond Street Hospital for Children, London, UK.
3
Metabolic Department, Great Ormond Street Hospital for Children, London, UK; Mitochondrial Research Group, UCL Institute of Child Health, London, UK.
4
Neurology Department, Great Ormond Street Hospital for Children, London, UK.

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.

KEYWORDS:

Brown-Vialetto-van Laere syndrome; Coarse face; DTI; Kinky hair; Riboflavin; SLC52A3; hRFT2

PMID:
24206674
DOI:
10.1016/j.ejpn.2013.09.006
[Indexed for MEDLINE]

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