{Reference Type}: Case Reports
{Title}: A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression.
{Author}: Horino A;Kawawaki H;Fukuoka M;Tsuji H;Hattori Y;Inoue T;Nukui M;Kuki I;Okazaki S;Tomiwa K;Hirose S;
{Journal}: Brain Dev
{Volume}: 38
{Issue}: 9
{Year}: Oct 2016
{Factor}: 2.272
{DOI}: 10.1016/j.braindev.2016.03.010
{Abstract}: <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.