Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature
| Autor: | Inés Roncero, Keith A. Coffman, Rob Forsyth, Jean-Baptiste Le Pichon, Tyler Allison |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Adolescent Hearing Loss Sensorineural Bulbar Palsy Progressive Chronic inflammatory demyelinating polyneuropathy Disease 03 medical and health sciences Autoimmune Diseases of the Nervous System 0302 clinical medicine Brown–Vialetto–Van Laere syndrome Humans Medicine Confusion business.industry Disease progression Membrane Transport Proteins medicine.disease Fazio–Londe disease Dermatology 030104 developmental biology Child Preschool Mutation Pediatrics Perinatology and Child Health Disease Progression Sensory neuropathy Demyelinating neuropathy Female Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Child Neurology. 32:528-532 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/0883073816689517 |
| Popis: | We present 3 patients identified at 2 different institutions with Brown-Vialetto-Van Laere syndrome. Each patient was initially diagnosed with a neuroimmune disorder for a period of a few weeks to a few months. In each case, genetic analysis revealed mutations in one of the riboflavin transporters, confirming Brown-Vialetto-Van Laere syndrome. It is likely that Brown-Vialetto-Van Laere syndrome is more common than previously reported, and because it mimics neuroimmune disorders, it may be misdiagnosed as such. It shares many features with diseases such as chronic inflammatory demyelinating neuropathy, may present with positive cerebrospinal fluid antibody titers, and may transiently respond to intravenous immunoglobulin. We review the literature on Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome, 2 riboflavin transporter disorders, looking for clinical presentations that may lead to confusion with neuroimmune disorders. We emphasize the importance of correctly diagnosing the disease, as its treatment is relatively benign and will stop progression of the disease and may even reverse it. |
| Databáze: | OpenAIRE |
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