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Table 1 Demographics, clinical features, long term outcome of the cohort

From: Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

# Sex; relative Current age Age of onset Consanguinity Family history C/F at presentatioon Seizure Preceded by history of flu like illness Neurological outcome # of attacks Medications Delayed diagnosis Comments
1 M 5 yrs 3 and 1/2 yrs No No SAE, ataxia, dysarthria, dystonia Yes Yes Normal 1 Biotin 7 mg/kg/day No delay  
Thiamine 200 mg BID
2 F 15 months 4/12 Yes No SAE, Loose mile stones, No Yes Normal 1 Biotin 10 mg/kg/day No delay  
Thiamine 200 mg BID
3 M 4 yrs 1 yr Yes No SAE, loose milestones, dystonia No Yes Normal 1 Biotin 10 mg kg/day Thiamine 200 mg BID No delay  
4 M ; Brother of patients #5 and 6 10 yrs 7 yrs Yes Yes SAE, ataxia, dystonia, dysarthria Yes Yes Moderate motor and speech deficit 3 Biotin 7 mg/kg/day No delay Had recurrence of crises on low dose biotin 2 mg/kg/day. and no recurrence after addition of thiamine and increase the dose of biotin
Thiamine 100 mg TID
5 M 23 yrs 2 yrs Yes Yes SAE, ataxia, dysarthria , dystonia Yes Yes Mild motor and speech deficit , drive the car, finish technology college 3 Biotin 5 mg/kg/day 5 years Had recurrence of crises on Biotin alone and no recurrence after addition of thiamine
Thiamine 100 mg BID
6 M Died at 26 yrs and spastic quadriplegic 4 yrs Yes Yes SAE, ataxia, dysarthria, dystonia Yes Yes Died 6 Biotin 5 mg/kg/day 8 years With age frequent seizure, had recurrence of crises on biotin alone and no thiamin was added to treatment
7 F 11 yrs 4 yrs Yes No SAE, ataxia, dysarthria, dystonia Yes Yes Moderate motor and speech deficit 2 Biotin 5 mg/kg/day 3/12 Had recurrence of crises on Biotin alone and no recurrence after addition of thiamine
Thiamine 100 mg BID
8 F 9 yrs 2 yrs Yes Yes GDD since birth then SAE, ataxia, dysarthria, dystonia Yes Yes Spastic quadriplegic 2 Biotin 5 mg/kg/day 3 years  
Thiamine 100 mg Tid
9 M; brother of patients #10 and 11 14 yrs 14 months Yes Yes SAE, Loose mile stones, Yes Yes Mild motor and speech deficit ; 5th grade primary school 3 Biotin 10 mg/kg/day 3/12 Had recurrence of crises on Biotin alone and no recurrence after addition of thiamine
Thiamine 100 mg TID
10 F 11 yrs 5 months Yes No SAE, loose milestones, dystonia No Yes Spastic quadriplegic 5 Biotin 10 mg/kg/day 1 year Had recurrence of crises on Biotin alone and no recurrence after addition of thiamine
Thiamine 100 mg TID
11 M 4 yrs 3 yrs Yes Yes SAE, ataxia, dysarthria, loose milestones Yes Yes Died >10 No treatment No diagnosis Retrospectively diagnosed based on diagnosis of his younger sibling.
12 F 4 yrs 3 yrs Yes No SAE, ataxia , loose mile stones No Yes Normal 1 Biotin 10 mg/kg/day No delay  
Thiamine 100 mg TID
13 F 4 yrs 3 yrs Yes No SAE, ataxia, dysarthria, loose mile stones No Yes Normal 1 Biotin 10 mg/kg/day No delay  
Thiamine 100 mg TID
14 M 6 yrs 4 yrs Yes No SAE, ataxia, dysarthria, dystonia Yes Yes Mild motor and speech deficit 3 Biotin 10 mg/kg/day 3/12 Started on this regimen once diagnosed
Thiamine 100 mg TID
15 M Died at 3.5 yrs 3 yrs Yes Yes SAE, ataxia, dysarthria, dystonia Yes Yes Died 1 No treatment No diagnosis Retrospectively diagnosed based on diagnosis of his younger sibling.
16 F 13 yrs 11 yrs Yes No SAE, ataxia dysarthria, dystonia Yes Yes Mild speech deficit 3 Biotin 8-10 mg/kg/day 1 and half year Started on this regimen once diagnosed
Thiamine 100 mg TID
17 F; sister of patient #18 2 yrs 2 yrs Yes Yes SAE, ataxia Yes No Normal 1 Biotin 8-10 mg/kg/day No delay  
Thiamine 100 mg TID
18 F 2 yrs and 9 months 2 yrs Yes Yes SAE, ataxia Yes Yes Died 1 No treatment No diagnosis Retrospectively diagnosed based on diagnosis of her younger sibling.
  1. C/F clinical features, GDD global developmental delay, M Male, F female, SAE sub acute encephalopathy.
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