Abstracts

Rationale: Most infants with West Syndrome (WS) develop severe epilepsy and intellectual deficiency (ID) over time. However, a small percentage progress to only mild to moderate ID with controlled epilepsy. There is a lack of studies that examine the long-term prognosis of these patients as they transition from infancy to adulthood. This case report aims to contribute to the limited body of literature by providing a comprehensive 60-year follow-up of a patient with WS, highlighting the evolution of his condition, management strategies, and outcomes.

Methods: Review detailed chart from patient’s mother and medical records from 2/1964-5/22/24.


Results: We present a 60-year follow-up of a male patient diagnosed with West Syndrome (WS) in infancy, later transitioning to temporal lobe epilepsy (TLE). Born in 1964, he showed clonic activity during sleep in the first weeks of life and developed infantile spasms at 9 months, leading to a WS diagnosis confirmed by an EEG showing a hypsarrhythmic pattern. He received ACTH therapy in infancy, followed by Phenobarbital and Primidone in childhood. Despite treatment, seizures persisted and evolved: myoclonic jerks between 18 months and 3.5 years, atypical absence seizures and rare grand mal seizures from 3.5 to 5 years, and status epilepticus at 6 years. As the patient got older, his seizures were focal seizures with impaired awareness (FSIA), and rare focal to bilateral tonic-clonic (FTBTC) seizures.

Seizure frequency varied, with daily seizures in childhood, reduced to 3 times a week in adolescence and early adulthood. After VNS implantation at 23, seizure frequency dramatically reduced to 1 seizure per month, with 3-4 seizures per year in his 30s-50s. A 72-hour EEG in 2019 showed epileptic discharges predominantly in the left temporal region. An EMU evaluation in 2023 captured independent electroclinical seizures from both temporal regions. The patient underwent gene testing as a part of the workup which revealed a GLDC gene mutation, potentially indicative of glycine encephalopathy (GE). A lumbar puncture was performed to assess the glycine cerebrospinal fluid/plasma ratio which was normal, ruling out the possibility of GE. MRI findings indicated left hemispheric atrophy and FLAIR signal hyperintensity in the left hippocampus and temporo-occipital regions, suggesting symptomatic WS possibly from post-inflammatory processes.

Psychological evaluations revealed a full IQ score of 77 at age 6 (Verbal IQ - 95; Performance IQ - 61), 88 at age 19, and 86 at age 59, indicating mild ID. His recent QOLIE-89 score is 85.


Conclusions: This case compares the typical presentation of WS with the patient's unique long-term progression to TLE, emphasizing the need for comprehensive and evolving management strategies to improve outcomes in WS. Long-term follow-up is crucial for understanding the full spectrum of WS and its long-term impact on patients. This report contributes valuable insights into the diverse trajectories of WS and emphasizes the necessity for continued research and individualized management strategies to optimize patient outcomes.

Funding: None