Abstract Details

Title Refractory Status Epilepticus in an Infant with Succinic Semialdehyde Dehydrogenase Deficiency: A Case Report and Therapeutic Challenges

Topic Child Neurology and Developmental Neurology

Presentation(s) P2 - Poster Session 2 (11:45 AM-12:45 PM)

Poster/Presentation
Number 8-004

Objective We describe an infant with SSDAHD complicated by refractory status epilepticus in the setting of COVID.

Background Succinate semi-aldehyde dehydrogenase deficiency (SSADHD) is a gamma-amino butyric acid degradation defect. It is associated with seizures in 50% of patients. Various types of seizures including myoclonic, tonic-clonic, absence seizures and status epilepticus have been reported. Accumulation and persistently elevated levels of GABA can lead to downregulation of GABA receptors, resulting in decreased inhibitory tone and increased seizure susceptibility.

Design/Methods Medical chart and literature review.

Results An 11-month-old female with SSADHD was admitted with COVID-19 infection. On day 9, she developed facial twitching, right arm jerking, and rightward eye deviation. EEG confirmed focal status epilepticus. Despite treatment with lorazepam, levetiracetam, fosphenytoin, and phenobarbital, seizures persisted, evolving into refractory status epilepticus. Ketamine infusion was started and escalated to 100 mcg/kg/min without resolution. Pentobarbital was then initiated and titrated to 5 mg/kg/hr, achieving burst suppression and seizure cessation approximately 36 hours after onset. Both anesthetic infusions were weaned over 20 days, during which levetiracetam, topiramate, clobazam, perampanel, and phenobarbital were uptitrated. At discharge, seizures were well controlled, and the patient had returned near her neurological baseline. At one-year follow-up, phenobarbital was weaned, and the remaining antiseizure medications were continued with adequate seizure control.

Conclusions Epilepsy is a recognized feature of SSADHD, though its pathophysiology and optimal management remain poorly defined. Seizure type, frequency, and treatment response are highly variable, making therapy challenging. Status epilepticus in this setting presents unique therapeutic challenges, as many conventional antiseizure agents may exacerbate GABAergic imbalance; thus, management must balance seizure control while avoiding agents that impair GABA metabolism. There are no evidence-based, standardized protocols for managing seizures in SSADHD or many other metabolic epilepsies. This case underscores the complexity of treating metabolic epilepsies and the ongoing need for targeted, mechanism-based therapies.

Authors/Disclosures
Maria Gonzalez, MD PRESENTER	Dr. Gonzalez has nothing to disclose.
Manasa Sudheendra, MBBS (Texas Children's Hospital/ Baylor College of Medicine)	Dr. Sudheendra has nothing to disclose.
Lin Yao, MD, PhD (Texas Children's Hospital Baylor Medical School)	Dr. Yao has nothing to disclose.
Brooke Evans, MD (Baylor College of Medicine)	Dr. Evans has nothing to disclose.
Samantha Quintero	Samantha Quintero has nothing to disclose.
shrenevas Nandam	shrenevas Nandam has nothing to disclose.
Carla Cardona Valle, MD	Carla Cardona Valle has nothing to disclose.
Grace Reynolds, MD	Grace Reynolds has nothing to disclose.
Daniel Davila-Williams, MD (Texas Children's Hospital)	Dr. Davila-Williams has nothing to disclose.

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