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Metabolic Brain Disease

, Volume 32, Issue 3, pp 675–678 | Cite as

A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency

  • Sanem YilmazEmail author
  • Mine Serin
  • Ebru Canda
  • Cenk Eraslan
  • Hande Tekin
  • Sema Kalkan Ucar
  • Sarenur Gokben
  • Hasan Tekgul
  • Gul Serdaroglu
Short Communication

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.

Keywords

Myelopathy Vision loss Neuromyelitis optica spectrum disorder Late-onset biotinidase deficiency 

Notes

Compliance with ethical standarts

Human and animal rights

For this type of study formal consent is not required.

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from the patient and parents.

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Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  • Sanem Yilmaz
    • 1
    Email author
  • Mine Serin
    • 1
  • Ebru Canda
    • 2
  • Cenk Eraslan
    • 3
  • Hande Tekin
    • 1
  • Sema Kalkan Ucar
    • 2
  • Sarenur Gokben
    • 1
  • Hasan Tekgul
    • 1
  • Gul Serdaroglu
    • 1
  1. 1.Department of Pediatrics, Division of Child NeurologyEge University Medical FacultyIzmirTurkey
  2. 2.Department of Pediatrics, Division of Metabolism and NutritionEge University Medical FacultyIzmirTurkey
  3. 3.Department of Radiology, Division of NeuroradiologyEge University Medical FacultyIzmirTurkey

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