West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?
Salvatore Mangano1, Rosaria Nardello, Gabriele Tripi
1Department of Sciences for Health Promotion and Mother and Child Care G, D'Alessandro, Child Neuropsychiatry Unit, Università di Palermo, Palermo, Italy. manganos@katamail.com
Insights
West syndrome, a severe infant epilepsy, can evolve into juvenile myoclonic epilepsy. This case highlights a potential genetic link between these distinct epilepsy types, suggesting shared pathophysiological processes.
Area of Science:
- Neurology
- Epileptology
- Pediatric Neurology
Background:
- West syndrome (WS) is an age-dependent epilepsy typically beginning in infancy, often with poor long-term outcomes.
- While often symptomatic, cryptogenic WS can have favorable prognoses, with rare cases evolving into other epilepsy forms.
- Previous research noted idiopathic WS progressing to childhood absence epilepsy.
Observation:
- A case study reviewed patients with West syndrome, focusing on infantile spasms' clinical evolution.
- One child with West syndrome, beginning at 8 months, later developed specific seizure patterns at 12 and 14 years.
- These later seizures included bilateral myoclonic jerks and generalized tonic-clonic seizures, responsive to Levetiracetam, suggestive of juvenile myoclonic epilepsy.
Findings:
- The presented case details an unusual evolution from West syndrome to features resembling juvenile myoclonic epilepsy.
- This transition, involving specific electroclinical manifestations, has not been previously reported in medical literature.
- The patient's response to Levetiracetam further supports the diagnosis of juvenile myoclonic epilepsy.
Implications:
- The findings suggest shared, genetically determined pathophysiological processes underlying different age-related epilepsy syndromes.
- This case emphasizes that West syndrome may transition into other epilepsy phenotypes, such as juvenile myoclonic epilepsy.
- Understanding these transitions is crucial for diagnosing and managing epilepsy throughout a patient's lifespan.
Background:
West syndrome is an age-dependent epilepsy with onset peak in the first year of life whose aetiology may be symptomatic or cryptogenic. Long-term cognitive and neurological prognosis is usually poor and seizure outcome is also variable. Over the past two decades a few patients with favourable cognitive outcome and with total recovery from seizures were identified among the cryptogenic group suggesting an idiopathic aetiology. Recent research has described two children with idiopathic WS who later developed a childhood absence epilepsy.
Case Presentation:
We reviewed the medical records of patients with West syndrome admitted to the our Child Neuropsychiatry Unit in the last 15 years in order to know the clinical evolution of infantile spasms.We report a child with West syndrome with onset at 8 months of age followed by some clusters of bilateral, arrhythmic myoclonic jerks of the upper limbs, mainly on awakening, synchronous with the generalized discharges of 4 Hz spike-wave occurring at 12 years of age and by co-occurrence of a later generalized tonic-clonic seizure at 14 years and four months, both sensitive to Levetiracetam suggesting a juvenile myoclonic epilepsy.
Conclusions:
This unusual evolution, never previously reported, suggests that both electroclinical features mentioned above may share some pathophysiological processes genetically determined which produce a susceptibility to seizure and emphasizes that the transition between different age-related epileptic phenotypes may involve also the West syndrome.
Related Concept Videos
Epilepsy ll: Types
Epilepsy and Seizures: Overview
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Seizures: Classification
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Seizures ll: Types
Seizures l: Introduction
Encephalitis ll: Pathophysiology


