[Optic neuropathy in biotinidase deficiency].
METHODS
We report a case of a 12 year old male with vision loss (0.1 in both eyes). He also had sensorineural hearing loss (cochlear implant), asthma, dermatitis and alopecia. He was diagnosed with retrobulbar optic neuropathy, and was started on a treatment of intravenous corticosteroids, showing no improvement. A screening for congenital metabolopathies revealed a biotinidase deficiency, and treatment with biotin achieved a rapid clinical improvement.


CONCLUSIONS
When faced with an optic neuropathy in a child, we must always look for a biotinidase deficiency, because biotin therapy is the only treatment that achieves a clinical improvement.
Sección de Estrabología, Hospital Infantil Niño Jesús, Madrid, Spain. dpb@arrakis.es
D
D
Puertas Bordallo
C
C
Martín Reyes
M L
ML
Ruiz-Falcó Rojas
A
A
Duat Rodríguez
M I
MI
Valls Ferrán
D001710:Biotin / Q000627:therapeutic use; D028921:Biotinidase Deficiency / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D002648:Child; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D016896:Treatment Outcome; D014786:Vision Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D014792:Visual Acuity; D058609:Visual Field Tests
D001710:Biotin