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. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83

Table 1.

Demographics, clinical features, long term outcome of the cohort

# 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.

C/F clinical features, GDD global developmental delay, M Male, F female, SAE sub acute encephalopathy.