Epilrp.cin. 40(3):373-376. I999
Lippincott Williams & Wilkins, [nc., Philadelphia
0 International League Against Epilepsy

Brief Communication

Benign Idiopathic Partial Epilepsy and Brain Lesion
U. Stephani and *H. Doose
Neuropediutric Department, University of KieE, Kiel, and *Epilep.ry Center, Raisdurf; Germany

Summary: A 14-year-old girl had severe head trauma from a
dog bite at the age of 9 days. This resulted in extensive brain
damage, tetraplegia, mental retardation, and epilepsy. The seizures were of rolandic type, and the EEG showed multifocal
sharp waves. The course was benign. The initial diagnosis of a
pure symptomatic epilepsy was revised after demonstrating
typical benign focal sharp waves in the EEG of the healthy
sister. Thus a phenocopy of a benign partial epilepsy by the

brain lesion could be excluded with sufficient certainty. This
observation allows the conclusion that the genetic disposition
underlying the sharp-wave trait characteristic of benign partial
epilepsies can be involved also in the pathogenesis of seemingly pure symptomatic epilepsies. EEG studies on siblings of
such patients are needed to exclude possible phenocopies. Key
Words: Benign partial epilepsy-Brain lesions-GeneticsEpilepsy pathogenesis.

In their study of electroclinical correlations of rolandic
sharp waves, Nayrac and Beaussart ( I ) described four
categories: (a) asymptomatic cases; (b) neurologically
symptomatic cases with and (c) without epileptic seizures; and (d) cases with epileptic seizures without any
neurologic deficits. The later literature focused mainly
on the fourth category [i.e. the so-called rolandic epilepsy or benign epilepsy with centrotemporal spikes
(2,3)]. Normal neurologic and mental status are essentials of the diagnosis of this epilepsy for most of the
authors (4-7). The characteristic EEG trait (not the epilepsy itself) could be proven as being genetically determined, probably following an autosomal dominant mode
of inheritance (8,9).
Differing from this rigid definition of rolandic epilepsy as a pure idiopathic disorder, several authors reported on otherwise typical cases with definite lesional
symptoms such as cerebral palsy and other neurologic
deficits (3,lO-15). Regarding pathogenesis, these cases
can be interpreted in two ways: First, the combination of
lesional symptoms and the characteristic EEG pattern is
coincidental, leading to additive effects on the seizure
threshold in the sense of a multifactorial pathogenesis,
or, second, the focal EEG changes represent a phenocopy
of the genetic pattern caused by an acquired or congenital brain lesion. The first hypothesis can be verified,
proving the genetic origin of the EEG pattern in the
patient only by demonstrating a typical sharp-wave focus

in this sibship. We report on such a patient and her family.

CASE REPORT
After normal pregnancy and birth, the girl's head was
bitten by a dog at her ninth day of life. This resulted in
multiple skull fractures and extensive destruction of the
brain parenchyma (Fig. 1). The girl developed a severe
spastic tetraplegia and mental retardation. Not until age
28 months did simple partial seizures occur, with drooling and myoclonias of the right orofacial region. The
EEG was normal but, I year later, exhibited independent
focal sharp waves in both right and left centrotemporal
regions. At age 5 years, the girl developed nocturnal
generalized tonic-clonic seizures with orofacial symptoms. Only combined treatment with carbamazepine
(CBZ) and sulthiame led to seizure control for 9 months.
A relapse with rolandic seizures could be controlled by
addition of clobazam (CLB). At age 10 years, the girl
was severely mentally retarded and not able to walk independently because of spasticity. Language was confined to a few words. There occurred only few simple
partial seizures of rolandic type with drooling and dysarthria. Additionally, the girl had rare frontal seizures
with tonic elevation of the arms and deviation of the head
and the trunk to the right. The EEG showed multifocal
sharp waves with strong activation during sleep. At age
11 years, the girl had some atypical absences, and the
EEG exhibited well-structured sharp waves mainly on
the right side (Fig. 2). At last follow-up, (age 14 years),
the girl was seizure free for 9 months, and the EEG
showed only a few groups of sharp waves in the right
precentrotemporal region.

Accepted September 18, 1998.
Address correspondence and reprint requests to Dr. U. Stephani at
Neuropediatric Department, University of Kiel, Schwanenweg 20, D
24105 Kiel, Germany.

373

U. STEPHANI AN D H. DOOSE

3 74

FIG. 1. Selected, 1,-weighted, axial magnetic resonance (MR) images of the girl‘s head at age 10 years, demonstrating multiple bilateral,
destructive brain lesions.

Family data
The maternal great-grandmother and her brother had
seizures as adults. The mother is left-handed and dyslexic; her EEG is normal. A normally developed 3-yearold sister shows a definite left-sided sharp-wave focus in
the EEG, mainly in the frontal and occipital regions, and
with activation during sleep (Fig. 3). A 12-year-old sister
and a 9-month-old brother are normally developed and
exhibit a normal waking EEG.

DISCUSSION
The epilepsy of our patient can be regarded as a typical
example of a multifactorially determined disorder with
coworking lesional and genetic factors. The assumption

-Epilqxin, Vol. 40, N o . 3. 14199

of a genetic background is based on the demonstration of
a characteristic sharp-wave focus in an otherwise healthy
sister. The probability of a coincidence of focal sharp
waves in the patient and her sister only by chance is very
low [i.e., it corresponds to the incidence of benign focal
sharp waves in the general population (about 2%); 16181. The EEG finding in the sister represents the crucial
difference between our patient and the cases with rolandic epilepsy and brain lesions reported in the literature
(3,lO-15). Well-structured sharp waves are not at all
specific for rolandic epilepsy and related conditions, and
a phenocopy due to a brain lesion can be excluded with
sufficient certainty only by a homologous EEG finding
in a sibling. The occurrence of epilepsies in adult relatives cannot be related to the same genetic disposition

FIG. 2. EEG at age 11 years. Wellstructured multifocal sharp waves over
both hemispheres with right-sided predominance.

IDIOPATHIC PARTIAL EPILEPSY AND BRAIN LESION

3 75

FIG. 3. EEG of the healthy sister of the patient at 2 years, 9 months old. Wellstructured sharp waves appear over the left
hemisphere mainly in the frontal and occipital regions.

but indicates that an additional genetic factor is involved
in the multifactorial pathogenesis of the epilepsy of our
patient, as it is characteristic for benign partial epilepsies
(19).
The real incidence of children with both a genetic
disposition to benign partial epilepsy and a brain lesion is
not known, mainly for two reasons: first, numerous authors (4-6) principally excluded children with brain lesions from their studies on benign partial epilepsy, and
second, the until now single reliable marker of such a
genetic disposition is characteristic EEG foci in siblings.
Sufficient EEG studies, however, are not available in the
literature.
It must be expected that children with a genetic predisposition to benign partial epilepsy are affected by
brain pathology not more rarely than children in the general population. If, moreover, the coincidence of both
exogenous and endogenous pathogenetic factors leads to
a lowering of the seizure threshold, then in collections of
epileptic children, such a pathogenetic constellation must
be overrepresented. Naturally, that must apply also to
severe epilepsies such as West and Lennox-Gastaut syndromes, which include numerous cases with a rather
good outcome (20,21). Detailed EEG studies of siblings
at the appropriate age, including sleeping records, are
needed to detect a possible multifactorial pathogenesis in
such cases.

REFERENCES
1. Nayrac P, Beaussart M. Les pointes-ondes prirolandiques: expression EEG tris particuliere. Rev Neurol 1958;99:210-206.

2. Liiders H, Lesser RP, Dinner DS, Moris HH 111. Benign focal
epilepsy of childhood. In: Liiders H, Lesser RP, eds. Epilepsy:
electroclinical syndromes. London: Springer, I 987:30346.
3. Lerman P. Benign partial epilepsy with centro-temporal spikes. In:
Roger J, Dravet Ch, Dreifuss FE, Perret A, Wolf P, eds. Epikptic
syndromes in infancy, childhood and adolescence. 2nd ed. London:
John Libbey, 1992:189-200.
4. Beaussart M. Benign epilepsy of children with rolandic (centrotemporal) paroxysmal foci. Epilepsia 1972;13:795-811.
5. Loiseau P, Beaussart M. The seizures of benign childhood epilepsy
with rolandic paroxysmal discharges. Epilepsia 1973;14:381-9.
6. Beaumanoir A, Ballis T, Varfis G, Ansari K. Benign epilepsy of
childhood with rolandic spikes. Epilepsia 1974; 15:30 1-1 5.
7.Dalla Bemardina BD, Sgro V, Fontana E, Colamaria V, La Selva
L. Idiopathic partial epilepsies in children. In: Roger J, Bureau M,
Dravet C, Dreifuss FE, Perret A, Wolf P, eds. Epileptic syndromes
in infancy, childhood and adolescence. 2nd ed. London: John
Libbey, 1992: 173-88.
8. Bray PF, Wiser WC. Evidence for a genetic etiology of temporalcentral abnormalities in focal epilepsy. N Engl J Med 1964;27 1 :
926-33.
9. Heijbel J, Blom S, Rasrnuson M. Benign epilepsy of childhood
with centro-temporal EEG foci: a genetic study. Epilepsia 1975;
16~285-93.
10. Ainbrosetto G. Treatable partial epilepsy and unilateral opercular
neuronal migration disorder. Epilepsia 1993;34:604-8.
11. Morikawa T, Osawa T, Ishihara 0, Seino M. A reappraisal of
“benign epilepsy of children with centro-temporal EEG foci.”
Brain Dev 1979;1:257-66.
12. Mambelli M, Moscano FC, Masoni P, Marchio G, Franzoni E.
Epilepsia rolandica: considerazioni su una casuistica di 40 bambini. Boll Lega Ztal Epil 1985;51/52:79-80.
13. Santanelli P, Bureau M, Magaudda A, Gobbi G, Roger J. Benign
partial epilepsy with centrotemporal (or rolandic) spikes and brain
lesion. Epilepsia 1989;30:182-8.
14. Doose H, Baier WK. Benign partial epilepsies and related conditions: multifactorial pathogenesis with hereditary impairment of
brain maturation. Eur J Pediatr 1989;149: 152-8.
15. Lipinski CG. Benigne Epilepsie rnit Rolando-Fokus-schliepen
pathologische klinische und nenropsychologische Befunde die DiEyikpsiu, Vol. 40, No. 3, 1999

3 76

U. STEPHANI AND H. DOOSE

agnose am? In: Hanefeld F, Rating D, Christen HJ, eds. Akruelle
Neuropadiatrie. Berlin: Springer, 1990:3 10-3.
16. Eeg-Olofsson 0, Petersen I, Sellden U. The development of the
electroencephalogram in normal children from the age of 1 through
15 years: paf~xysmalactivity. Neuropadiatrie 1971;2:375404.
17. Gerken H. Uber konstitutionelle EEG-Anomalien bei kindlichen
Epilepsien. Kiel: Habil-Schrift, 1971.
18. Cavazzutti GB, Cappella L, Nalin A. Longitudinal study of epi-

Epilepsia, Vol. 40, N o . 3, 1999

leptiform EEG patterns in normal children. Epilepsia 1980;21:4355.
19. Doose H, Brigger-Heuer B, Neubauer B. Children with focal sharp
waves: clinical and genetic aspects. Epilepsiu 1997;38:788-96.
20. Vigevano F, Fusco L, Cusmai R, Claps D, Ricci ST, Milani L. The
idiopathic form of West syndrome. Epilepsia 1993;34:743-6.
21. Dulac 0, Plouin P, Jambaque I. Predicting favorable outcome in
idiopathic West syndrome. Epilepsia 1993;34:747-56.