ArticleMetabolic brain disease2017
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Article in Metabolic brain disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 38 citations in OpenAlex.
- Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review.Neuro-ophthalmology (Aeolus Press) · 2025Review
- Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature.Case reports in neurological medicine · 2025Article
- Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking.International journal of molecular sciences · 2023Article
- Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.Neurogenetics · 2022Review
- Article
- Effect of biotin supplementation on neuropathic pain induced by chronic constriction of the sciatic nerve in the rat.Research in pharmaceutical sciences · 2021Article
- Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in theFrontiers in pediatrics · 2021Article
- Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.Neurology. Genetics · 2020Article
- Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood.JAMA neurology · 2020Article
- Pediatric NMOSD: A Review and Position Statement on Approach to Work-Up and Diagnosis.Frontiers in pediatrics · 2020Review
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies.Pediatric health, medicine and therapeutics · 2020Review
- Pediatric Neuromyelitis Optica Spectrum Disorders.Current treatment options in neurology · 2018Review
- Neonatal screening for biotinidase deficiency: A 30-year single center experience.Molecular genetics and metabolism reports · 2017Article
- Treatable Genetic Metabolic Epilepsies.Current treatment options in neurology · 2017Review
- Longitudinally Extensive Transverse Myelitis with Optic Neuritis Related to Profound Biotinidase Deficiency: NMOSD Mimic!Annals of Indian Academy of NeurologyArticle
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9 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, hearing loss, seizures and developmental retardation in its classical form. Late-onset biotinidase deficiency presents distinctly from the classical form such as limb weakness and vision problems. A 14-year-old boy presented with progressive vision loss and upper limb weakness. The patient was initiated steroid therapy with a preliminary diagnosis of neuromyelitis optica spectrum disorder due to the craniospinal imaging findings demonstrating optic nerve, brainstem and longitudinally extensive spinal cord involvement. Although the patient exhibited partial clinical improvement after pulse steroid therapy, craniocervical imaging performed one month after the initiation of steroid therapy did not show any regression. The CSF IgG index was <0.8 (normal: <0.8), oligoclonal band and aquaporin-4 antibodies were negative. Metabolic investigations revealed a low biotinidase enzyme activity 8% (0.58 nmoL/min/mL; normal range: 4.4 to 12). Genetic testing showed c.98-104delinsTCC and p.V457 M mutations in biotinidase (BTD) gene. At the third month of biotin replacement therapy, control craniospinal MRI demonstrated a complete regression of the lesions. The muscle strength of the case returned to normal. His visual acuity was 7/10 in the left eye and 9/10 in the right. The late-onset form of the biotinidase deficiency should be kept in mind in all patients with myelopathy with or without vision loss, particularly in those with inadequate response to steroid therapy. The family screening is important to identify asymptomatic individuals and timely treatment.
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