Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients

Dev Med Child Neurol. 2009 May;51(5):373-80. doi: 10.1111/j.1469-8749.2008.03233.x.

Abstract

To define the spectrum of epilepsy in Wolf-Hirschhorn syndrome (WHS) better, we studied 87 patients (54 females, 33 males; median age 5.6 years; age range 1-25.6 years) with confirmed 4p16.3 deletion. On the basis of clinical charts, we retrospectively analyzed the evolution of the electroencephalogram (EEG) findings and seizures. Epilepsy occurred in 81 patients (93%) within the first 3 years of life. Sixty out of 81 (74%) had generalized tonic-clonic seizures, which was the only seizure pattern in 32. Tonic spasms occurred in 15 out of 81 (18%), complex partial seizures in 10 out of 81 (12%), and clonic seizures in 6 out of 81 (7%). Seizures were frequently triggered by fever (59 out of 81; 73%), and occurred in clusters in 36 out of 72 (50%). In the same 36 (50%), unilateral or generalized clonic or tonic-clonic status epilepticus occurred during the first 3 years of life. Twenty-seven out of 81 patients (33%) developed atypical absences between 1 and 6 years, accompanied by a myoclonic component involving the eyelids and the hands. Distinctive EEG abnormalities were observed in 73 out of 81 (90%). Epilepsy was well controlled in 65 out of 81 (81%), mainly with valproate and phenobarbital, and improved with age in all. Thirty-two out of 58 (55%) are currently seizure-free. Seizures stopped at a median age of 4 years 6 months. Epilepsy represents a major clinical challenge in WHS; however, it has a good prognosis. Early diagnosis and treatment of atypical absences, subtle and often misdiagnosed, is mandatory.

MeSH terms

  • Adolescent
  • Adult
  • Anticonvulsants / therapeutic use
  • Child
  • Child, Preschool
  • Diagnostic Errors
  • Early Diagnosis
  • Electroencephalography*
  • Epilepsy / diagnosis*
  • Epilepsy / drug therapy
  • Epilepsy / etiology
  • Epilepsy / physiopathology*
  • Epilepsy, Absence / diagnosis
  • Epilepsy, Absence / physiopathology
  • Epilepsy, Complex Partial / diagnosis
  • Epilepsy, Complex Partial / physiopathology
  • Epilepsy, Tonic-Clonic / diagnosis
  • Epilepsy, Tonic-Clonic / physiopathology
  • Female
  • Humans
  • Infant
  • Male
  • Medical Records
  • Myoclonic Epilepsy, Juvenile / diagnosis
  • Myoclonic Epilepsy, Juvenile / physiopathology
  • Prognosis
  • Retrospective Studies
  • Status Epilepticus / diagnosis
  • Status Epilepticus / physiopathology
  • Surveys and Questionnaires
  • Treatment Outcome
  • Wolf-Hirschhorn Syndrome / complications*
  • Wolf-Hirschhorn Syndrome / diagnosis
  • Wolf-Hirschhorn Syndrome / genetics
  • Wolf-Hirschhorn Syndrome / physiopathology*
  • Young Adult

Substances

  • Anticonvulsants