Open Access Case report

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

Salvatore Mangano1*, Rosaria Nardello1, Gabriele Tripi1, Giuliana Giordano1, Chiara Spitaleri1, Giuseppa Renata Mangano2 and Antonina Fontana1

Author Affiliations

1 Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", Child Neuropsychiatry Unit, Università di Palermo, Palermo, Italy

2 Psychology Department, Università di Palermo, Palermo, Italy

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BMC Neurology 2013, 13:48  doi:10.1186/1471-2377-13-48

Published: 24 May 2013

Abstract

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.

Keywords:
West syndrome; Juvenile myoclonic epilepsy; Epilepsy evolution; Genetic predisposition; Hairy elbows syndrome