Table 1.
# | 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.