A 2 1/2-year old male with bilateral optic atrophy, multi-system abnormalities, tonic-clonic seizures, spastic paresis, sensorineural hearing loss and ataxia.
Pathology
Biotinidase deficiency
Disease/Diagnosis
Bilateral optic atrophy from biotinidase deficiency
Clinical
VA: 20/60 OD, 20/70 OS (age 5)
Presenting Symptom
Bilateral optic atrophy
Neuroimaging
CT; MRI
Treatment
Vitamin B complex
Date
2007-02
References
None.
Language
eng
Format
video/mp4
Type
Image/MovingImage
Source
39th Annual Frank Walsh Society Meeting
Relation is Part of
NANOS Annual Meeting Frank B. Walsh Sessions; 2007