# | 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. |