Inv dup (15): is the electroclinical phenotype helpful for this challenging clinical diagnosis?
OBJECTIVE
To study the electroclinical phenotype in 5 patients with large supernumerary marker chromosome referred as inv dup (15), in an attempt to analyze the electroclinical spectrum in order to determine if the binomial epilepsy-EEG is stereotyped enough to corroborate this challenging diagnosis.


METHODS
Five patients with large inv dup (15) were submitted to EEG and/or V-EEG, with a minimum duration of 2h. Two certified neurophysiologists analyzed all EEG tracings simultaneously, blinded to clinical and molecular data. Epilepsy was characterized by detailed history and a standard questionnaire according to International League Against Epilepsy guidelines and corroborated by V-EEG findings.


RESULTS
Epilepsy started during infancy in 4 patients, in 3 with spasms. Spasms were easily controlled in one but not in others. Epilepsy evolved with generalized seizures in two patients and, generalized and focal in one. Currently, 3 patients present refractory epilepsy and two are seizure-free. In one patient, only one isolated episode suggestive of a secondary generalized tonic-clonic event occurred at the age of 12 years without recurrence. Regarding the EEG, patients had distinct features, except for two patients with very high amplitude fast activity, resembling recruiting rhythm. Despite good seizure outcome in 3 patients, EEGs remained remarkably abnormal with frequent epileptiform discharges over poorly organized background.


CONCLUSIONS
Our data showed a heterogeneous electroclinical phenotype with generalized and partial epilepsy, presenting distinct degrees of severity and refractoriness.


CONCLUSIONS
Our findings suggest that it is not possible to delineate an electroclinical phenotype in this neurogenetic syndrome. Therefore, inv dup (15) remains as a diagnostic challenge and epilepsy and EEG features are valuable only when inserted in the proper clinical context.
Valente
Kette D
KD
Laboratory of Clinical Neurophysiology, Institute and Department of Psychiatry, University of São Paulo (USP) Medical School, São Paulo-SP, Brazil. kettevalente@msn.com
Freitas
Alessandra
A
Fridman
Cintia
C
Varela
Mônica
M
Silva
Ana Elizabete
AE
Fett
Agnes C
AC
Koiffmann
Célia P
CP
D000293:Adolescent; D000328:Adult; D017204:Angelman Syndrome / Q000235:genetics; D002540:Cerebral Cortex / Q000002:abnormalities / Q000503:physiopathology; D002648:Child; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D009421:Nervous System Malformations / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics; D011237:Predictive Value of Tests; D013577:Syndrome
D005819:Genetic Markers