Case/sex |
Age at the |
Underlying |
Epilepsy |
Seizure |
Seizure |
Efficacy |
Reasons of |
beta-hydroxy- |
|
start of MAD |
disease |
classification |
phenotype |
frequency |
at 3 months |
discontinuation |
butyrate at 3 months |
1/Male |
1y6m |
leukodystrophy |
SLRE |
complex partial |
weekly |
discontinued |
reject by patient |
- |
2/Female |
1y6m |
Trisomy 21 |
IS |
spasms |
daily |
excellent |
|
4929 umol/L |
3/Male |
1y11m |
|
IS |
spasms, tonic |
daily |
excellent |
|
3986 umol/L |
4/Male |
2y2m |
|
IS |
spasms, tonic |
daily |
unchanged |
|
5470 umol/L |
5/Female |
3y |
|
Doose |
MAS, myoclonic |
daily |
discontinued |
reject by family |
- |
6/Female |
3y |
|
IS |
spasms, tonic |
daily |
unchanged |
|
not done |
7/Female |
3y |
|
IS |
spasms, tonic |
daily |
unchanged |
|
not done |
8/Male |
3y |
|
IS |
spasms, tonic |
daily |
unchanged |
|
6174 umol/L |
9/Female |
3y |
tuberous sclerosis |
LGS |
tonic, atypical absence |
daily |
discontinued |
reject by patient |
- |
10/Female |
5y |
band heterotopia |
unclassified |
NCSE, GTCs, drop |
daily |
excellent |
|
2376 umol/L |
11/Female |
5y |
|
SLRE |
NCSE, tonic, hypermotor |
daily |
good |
|
2795 umol/L |
12/Male |
7y |
|
SLRE |
tonic |
weekly |
discontinued |
reject by family |
- |
13/Female |
11y |
tuberous sclerosis |
LGS |
tonic, atypical absence |
daily |
discontinued |
reject by patient |
- |
14/Female |
17y |
tuberous sclerosis |
LGS |
tonic, atypical absence |
daily |
discontinued |
reject by family |
- |
15/Female |
29y |
15q inv dup syndrome |
SLRE |
|
daily |
discontinued |
reject by family |
- |
16/Female |
32y |
|
SLRE |
complex partial, GTCs |
weekly |
discontinued |
reject by patient |
- |
|
Table 1: Profiles of patients who started the MAD in our hospital and the short-term efficacy and tolerability after 3 months on the diet Abbreviations: SLRE, symptomatic
localization-related epilepsy; IS, infantile spasms; LGS, Lennox-Gastaut syndrome; Doose, Doose syndrome; NCSE, nonconvulsive status epilepticus; GTCs, generalized
tonic clonic seizure; excellent, seizure-free; good, >50% seizure reduction; unchanged; <50% seizure reduction. |