Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.
Eur J Paediatr Neurol
; 18(2): 231-4, 2014 Mar.
Article
en En
| MEDLINE
| ID: mdl-24206674
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Parálisis Bulbar Progresiva
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Proteínas de Transporte de Membrana
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Riboflavina
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Pérdida Auditiva Sensorineural
Límite:
Child
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Female
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Humans
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Infant
Idioma:
En
Revista:
Eur J Paediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2014
Tipo del documento:
Article