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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.