%0 Case Reports
%T A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression.
%A Horino A
%A Kawawaki H
%A Fukuoka M
%A Tsuji H
%A Hattori Y
%A Inoue T
%A Nukui M
%A Kuki I
%A Okazaki S
%A Tomiwa K
%A Hirose S
%J Brain Dev
%V 38
%N 9
%D Oct 2016
%M 27117035
%F 2.272
%R 10.1016/j.braindev.2016.03.010
%X <B>BACKGROUND: </B>Clinical phenotypic expression of SSADH deficiency is highly heterogeneous, and some infants may develop refractory secondary generalized seizures.<BR><B>METHODS: </B>A 9-month-old boy manifested partial seizures, developing severe status epilepticus, and conventional antiepileptic drugs were ineffective. Use of ketamine contributed to the control of status epilepticus, achieving a reduction in frequency of partial seizures, and improving EEG findings without apparent complications. Diffusion-weighted images showed hyperintensities in the bilateral basal ganglia and fornix, and multiple T2 hyperintensity lesions were detected. (123)I-iomazenil (IMZ) SPECT revealed a decrease in binding of (123)I-iomazenil predominantly in the left temporal region by the 18th day of hospitalization. However, repeated IMZ-SPECT on the 46th day of hospitalization demonstrated almost no accumulation across a broad region, sparing the left temporal region. The patient showed rapid regression, refractory myoclonus, and severe progressive brain atrophy.<BR><B>CONCLUSIONS: </B>IMZ-SPECT findings demonstrated reduced benzodiazepine receptor binding and its dynamic changes in an SSADH-deficient patient. Considering the down regulation of the GABAA receptor, ketamine should be included in pharmacotherapeutic strategies for treatment of refractory status epilepticus in SSADH-deficient patients.