Identifier | Title | History | Subject | ||
---|---|---|---|---|---|
1 | walsh_2007_s1_c1_video | A Case of Bilateral Optic Nerve Atrophy (Presentation Video) | A 2 1/2-year old male with bilateral optic atrophy, multi-system abnormalities, tonic-clonic seizures, spastic paresis, sensorineural hearing loss and ataxia. | Biotinidase Deficiency; Optic Atrophy; Vitamin A Deficiency; Vitamin B 12 Deficiency; Thiamine Deficiency; Epilepsy, Tonic-Clonic; Paraparesis, Spastic; Hearing Loss, Sensorineural; Ataxia |