Full text of DOI:10.1177/088307380001501003

Article
Original
of
Usefulness
Sclerosis
Tuberous
Pediatric Patients
Criteria of
Diagnostic
in
Complex
RobertA.
Józwiak
Camila
Sergiusz
Jolanta
MD, PhD;
Schwartz, MD, MPH;
Krysicka
MD;
Janniger,
PhD
MD,
Bielicka-Cymerman,
ABSTRACT
The
Sclerosis
1998ConsensusConferenceclinical criteria
as
an
in
the
Tuberous
advance
fortuberous
sclerosis
Complex
represent
important
diag-
are
tuberous
complex. Since manyfindings regarded
highly specific
complex
nosis of
not
sclerosis
until late childhood or
refinements
ofvalue. Wehave stratified 106 children
adulthood,
by
mayprove
apparent
age
into five
to
2
of
above
2
to
5
above
5
to
9
above
9
to 14
andabove 14
to 18
(0
years
years,
of
years,
in
years,
ofchildren.
age groups
age,
should be
the
alerted as to
the criteria
different
Child
Neurol
years). Physicians
2000;15:652-659).
frequency
stages
(J
Tuberous sclerosis
inherited
is an
in one
all three features of
in6%of
29%of
patients;
complex
multisystem
autosomal-dominantly
representative series,
Vogt’s
none
disorder
were
in
found
characterized
triad
bywidespread
in
only
them,
in
introduc-
hamartomas
almost
but
ofthese
wereobserved.8Thesuccessive
every
mainly
brain,
organ
findings
and heart. The estimated fre-
tion of newer
such as
skin, kidneys,
quency
eyes,
ultrasound,
and
liver,
diagnostic technology,
of
in
the
tuberoussclerosis
popu-
complex
general
computedtomography (CT), echocardiography,
neticresonance
mag-
ofnew
lation is said to be about
1
in
hasledto
discovery
10,000. However, mildly
imaging(MRI),
affected or
in
cases are
and
the
criteria oftuberousscle-
asymptomatic
rarely diagnosed
signs
rosis
changed
diagnostic
thetrue
of
com-
Inthe ofthe
CriteriaCom-
Diagnostic
tuberoussclerosis
childhood’;
complex.
report
prevalence
beas
1
in
Sclerosis
mittee ofthe National Tuberous
the
as
6800.~
plexmay
high
patients
complex; they
Association,
no
of
to
sclerosis
were clas-
About60%of
have
are
oftuber-
clinical features
tuberous
their
complex
importance
familyhistory
to
sclerosis
as
ous
sified
thought
represent spo-
according
primary
diagnostic
mutations.3
or
this for-
radic
Molecularstudieshaveshown
unequivocal
(pathognomonic), secondary,
mulation,
be made
tertiary.9 Using
for loci on
and on
the
could
evidence
these
oftuberoussclerosis
when one
16p13 (TSC2)
wereclonedin 1993and1997,
9q34
diagnosis
complex
(TSC1);
criterion or two
respectively 4e So
definitively
primary
and two
genes
differenceshavebeendemon-
or one
no
phenotypical
significant
secondary ones,
were
These
secondary
tertiary ones,
complicated,
far,
6
strated in
withalterations at TSCandTSC2.6
the classic
astoo
present.
criteria,
regarded
patients
modificationin
In
received
1998. 11 This
thecriteriawere
1908,
emphasized
obligatory
seizures,
time,
Vogt7
diag-
men-
two
tuberous sclerosis
divided into
and minor
The
nostic triad of
complex:
major
oftuberoussclerosis
groups:
(Table 1).
talretardation, andadenomasebaceum
defmitive
is estab-
Yet,
diagnosis
complex
(angiofibromas).
lished when two
features or
one
major
are demonstrated.
two
major plus
minorfeatures
In
ofthis
of
spite
longlist
diagnostic criteria,
the
diag-
be
ReceivedOct
1999. ReceivedrevisedMarch
2000.
for
Accepted
4,
21,
pub-
nosis of tuberous sclerosis
in children
may
complex
lication March22, 2000.
The fact that
challenging.
many
mostspecific
traditionally
findings
Fromthe
of Pediatric
Children’sMemorial
Department
Poland
Neurology,
of and
Dermatology
Hospital,
Pediatrics,
Janniger);
regardedasamongthe
become
fortuberoussclerosis
Warsaw,
(Dr Józwiak); Departments
in
or
late childhood
adulthood
New
Medical
NJ
Schwartz and
Jersey
School,
complex
apparent
limits their usefulness for
Newark,
(Drs
ofPediatric
District
Poland
(Dr
Department
Bielicka-Cymerman).
Hospital, Warsaw,
Neurology,
Themain aim
early diagnosis.11
wasto assess the value of
ofthe
study
existing diagnostic
in
A
Address
to DrRobert
ofDerma-
NJ
Avenue, Newark,
correspondence
Schwartz, Department
criteria of
different
age
tuberous sclerosis
complex
New
Medical
185 South
School,
Jersey
tology,
Orange
07103-2714.
groups.
652
Downloaded from jcn.sagepub.com at The University of Auckland Library on May 18, 2015

653
1.
Table
Revised
Criteria
14
above 14to 18
and
years
above
of
5
to
9
above
9
to
Diagnostic
Sclerosis
years,
years,
for Tuberous
Complex*
age.
RESULTS
Skin Lesions
maculeswereevidentin 103of106 children
Hypomelanotic
In 66
wereobservedat
andin
children, they
birth,
(97.2%).
20
their
was
until the first
others,
monthsoflife
presentation
In
delayed
maculeswere
total,
3).
hypomelanotic
(Table
95 children
in
2
<
seen
below
of
years
(89.6%)
the
age (P
.001).
In
8
another
ofthese lesions took
patients,
children, theyappeared
appearance
between
in
6
2
and
5
andin
asym-
longer:
2
between
5 and9
were
patients
years. Usually, they
onthetrunkandbuttocks.
metricallydistributed, especially
Thenumberofmaculesvariedfrom to morethan 20.
2
&dquo;Confetti-like&dquo;
smallwhitemacules
lesions, very
were observedinthree children
(usu-
1-3 mmin
ally
diameter),
to
distributed overthe forearms andlower
(2.8%), two
5
9
andone 17
old.
year
were
aged
years
They
characteristically
legs.
in
79
Facial
wereevident
patients
before
angiofibromas
(74.5%).
years
*From Roach
Gomez
H: Tuberous Sclerosis
Consensus
Complex
1998;13:624-628.
ES,
MR,
diagnostic
Northrup
In
of
2
8
thefirst
Conference: Revised clinical
criteria.
J
Child Neurol
children,
appeared
angiofibromas
none
the first
of
but in the
year
age (in
during
patients-in
evidentbetweenthe 2ndand5th
age),
56children
became
of
majority
(52.8%)-they
MATERIALSANDMETHODS
oflife. Inthe rest of
year
in
the
11
children
5
to
9
in
years
patients, theyappeared
to
aged
of 106
14
in
4
The
was
childrenwithtuber-
andbetween9
children. In the
composed
studypopulation
patients
years
and59
1
to 18
month
oussclerosis
ofchildren morethan
5
of
6
ofthem
boys
complex(47
girls) aged
NeurologyClinic,
from1984to 1995.
years
only
age,
group
hadnofacial
yearswhowereexaminedatthe Child
Children’s
angiofibromas.
were found in 51 children
in Warsaw, Poland,
patches
MemorialHealthInstitute
Shagreen
(48.1%).
with
of
is
in Table 2.
or
at onset
evaluation shown
The
of
Thesedistinctive
flattened
Age
diagnosis
lesions,
yellowish-red
that of an
pink
were
tuberoussclerosis wasestablishedbasedontheNational
a
surface texture
usu-
complex
resembling
asymmetrically
patients, they
orange,
TuberousSclerosis Association criteria set in 1992.9 All
distributed
ondorsal
surfaces. In
patients
also fulfilled the modified National TuberousSclerosisAssocia-
of
ally
the
body
of
from few
a
were
multiple,
majority
in
tion
criteria
1998.1°Data
medical
millimeters to
1
centimeter
size. In
a
few
con-
history,
diagnostic
regarding
patients,
morethan
at onset of skin lesions and
were col-
fluentclusterscoalescedinto
cen-
10
epilepsy,
including age
lectedin each
largeplaques
atthe
ofthe
Careful
in
noted in
timeters
diameter.
were
patient
study.
pedi-
beginning
and
patches
aged
childover 14
Shagreen
examinationswere
6
5
2
9
of
in
2
in 15
aged
childrenbelow
16
to
atric, neurodevelopmental,
carried outat
dermatologic
years
age,
5,
years
in
once
a
to
in 13
to
and
1
of
everyvisit duringfollow-up (usually
year).
9,
14,
aged
age.
examinationwas
Molluscum fibrosum
Additionally,
performedin 101,
ophthalmologic
pendulum-multiple peduncu-
onthe
in
CT
thebrainin
andbrainMRIin
in
of
latednodulesortumors
in24
neckand
axillae and
78,
102,
echocardiography
rarely
11
children. Visceral
andrenal
evident
childrenwithtuberoussclerosis
organneoplasms, mainlyhepatic
abdominal
groins-was
wereevaluated
It wasobservedin
4
children
2
to 5
angiomyolipomas,
by
ultrasonography
someexaminations
complex
years,
(22.6%).
aged
9
to
in 91
were
were
In
5
children
5
to
10
the
of
and
subjects.
large group
patients,
9,
years
patients
14,
aged
above 14
aged
results
5
of
carriedoutseveraltimes
andtheir
individuals
Anothercutaneous
follow-up,
The
during
age groups.
age.
the
in
of
reassessed
different
foreheadfibrous
Insome
presence
diag-
plaque,
finding,
20children
in
nostic
wasobserved
cededthe
it
criteria oftuberous sclerosis
hasbeen
analyzed
complex
(18.9%).
offacial
patients,
These
pre-
in
different
0
to
2
of
above
2
to
5
age groups:
years
age,
years,
appearance
angiofibromas.
or flesh-colored
slightly
elevated
yellowish-brown
the
plaques
grew
several millimeters above
slowly
the skin surface.
years,
through
rising
2.
Table
the
of Children
in
Age
Participating
in
6
children under
to9,
patients aged5
were evident
2
They
children
at the
of Evaluation
Study
Beginning
2
of
4
to
5, 7
years
age,
aged
JI
J
,
9
to 14
years.
and
3
patients
or
aged
as character-
periungualfibromas,
Ungual
regarded
were seen
in
istic for tuberous sclerosis
16 chil-
complex,
arosefromthenailbedbeneath
dren
Usually,
they
(15.1%).
the nail
orfromthe
nail
skin ofthe
groove
andwere
plate
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654
Table 3.
Skin Lesions in Patients WithTuberous
Ageat Appearanceof
Sclerosis Complex
oftenfoundaroundorunderthetoenails.
fibro-
in 102 children
Inthe of 35chil-
group
Periungual
repetitively,
(Table4).
child
2
to
14
5
in
3
dren
2
below
of
calcified
maswerenotedin one
years,
patients
years
multiple
age,
subependymal
aged
5
to
in
8
children
9
to
andin
4
chil-
nodules were demonstrated in 29
in two of
Addi-
years,
patients
9,
aged
(82.8%).
aged
14
cell
drenmorethan
tionally,
tomas,
found.
them, subependymal
astrocy-
years.
giant
intervention,
hypodense
frontal andparietal lobes
both
were
requiring neurosurgical
Eleven
in
children
had
areas
both
Infantile
Spasms
(31.4%)
ofthe most
andwhite matter of
seizures are one
gray
mainly
Epileptic
frequentlyreported
to
Brain
CT
in tuberous sclerosis
cortical andsubcorticaltubers.
complex patients. They
corresponding
symptoms
were observed
2
in
106
In the
in37
to
5
showed
102 of
vast
performed
patients
years
and
periven-
tubers
patients (96.2%).
seizure
aged
36
in
of
the first
88
tricular calcifications
hypodense
majority
subjects,
of
epileptic
appeared
as infantile
onset
(97.3%)
2
in
9
ofthem.
before
years
age (in
children), mainly
9
(24.3%)
children
5
to
9 underwentbrain
years
66
had
Twenty-nine
aged
noduleswere
spasms
patients). Only patients
delayed
(in
in
28
ofseizures until the
between
2
and
5
and
5
chil-
CTstudies.
noted
years
subependymal
decreased attenuation
(J6.6%)
(37.9%).
age
and
of
in 11
ofthem
dren
in
9
and areas
untilbetween
above
5
of
Seizuresobserved
age.
years
of
Two
children had
5
were classified as
patients
subependymalastrocytomas
years
partial,
demon-
protruding
One ofthese tumors
wasdocu-
age
None ofthese
into the
or
lateral ventricles.
absences,
patients
the
generalized.
mentedasarisingfrom
the
a
noduleoritsvicin-
stratedinfantile
With
subependymal
spasms.
morphol-
advancingage,
ofseizures
ogy
Somechildren hadseveral
ity
2-yearfollow-up period.
types
during
changed.
of
noduleswereseenon
CTscansin
alsohad
seizures.
brain
Subependymal
aged
hypodensetubers;
all 24children
9
to 14
Six
years.
patients
(25%)
in two of
Examination
Ophthalmologic
Characteristicretinal
them, subependymalastrocy-
Inthe adolescent
14to
in
tomaswereidentified.
hamartomasweredocumented
19
group, ages
in
all
scans,
of
18
nodules were seen
101
These
smooth-
patients
usually
flat,
single,
years, subependymal
(18.8%).
tubersin
1
child, and
surfaced
found
lesionswerethemost
hypodense
in another
subependymalastrocytomas
semitransparent
frequently
2
ofretinal hamartomas.
both
children.
type
number
They
slowly
grew
in
MRIofthe
outin 11
whohad
andsize overan
oftime.
brainwascarried
children
to
extended
period
4
CT
2
children
9
and8
Retinal hamartomas were found in
of 49 children
a
previous
(1 8 year old,
In
aged
14,
8-year-oldchild,
41
2
14
to 18
below
2
of
in
7
of
to
all
except
the one
years
patients aged
aged
the
years).
revealed
age (8.2%),
in
MRI
BrainCTscans
per-
5
7
of34children
5
to
9
nodules.
of
years
years
years
subependymal
(17.1%),
patients
aged
(17.2%),
(20.6%),
5of16exam-
in
formedonthat
at
4
hadnotshown
agestill
in
nodule. MRI is better than a CT scan
in
5
of 29
9
to 14
and
patient
aged
14
ined children
to 18
subependymal
demonstrating
contrary,
aged
(31.3%).
noncalcified
nodule. Onthe
subependymal
Studies
calcified
onCTscans.
nodules werevisualized
Neuroimaging
CTwasthe mainmethodofcentral nervous
subependymal
better
system
sometimes
imag-
It
In all 11
MRI
revealed multifocal areas of
in examined
was carried
out,
patients,
patients.
ing
increased
thatinvolvedboththe
subcorticalwhite
theselesions cor-
signal
T~
In
matterandcortex.
6 ofthese
patients,
Table 4.
in
Results of
Studies
Brain ComputedTomography
102 Patients withTuberous
related with
areas seen onCTscans.
hypodense
Sclerosis Complex
Cardiac
Rhabdomyomas
In orderto assess the incidence ofcardiac
rhabdomyomas
in
tuberous sclerosis
complexpatients,
echocardiography
in 78ofthesechildren. Cardiactumors
wascarriedout
were
in
examinedchildren,
8
in
demonstrated
neonatal
37of78
the
(47.4%)
In
thetumorswere
In
17
children,
multiple.
period.
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655
2
of in
age,
1
of24
2
to
5
in
years,
thetumorsdidnot
below
36
2
hemo-
all
years
(11.1%) aged
in of 13
and
(4.2%) aged
in 8 of34
children,
disturbances.
produceany
except
4
5
to
9
9
of
years,
(23.5%) aged
dynamic
6
ofthe children 14 to 18
years
cardiac
24
tumorsin 20of
to
of
revealed
14,
(46.2%)
Echocardiography
4
in
diameter. Liver
2
in
14
The
lesion was cm
childrenunder
of
3
of
chil-
years
biggest
age,
(21.3°l0)
age.
(83.3%)
dren
2
4
werefoundin totalof13of91 examined
a
to
in of19
5
in
7
to
5,
aged
(21.1%)patientsaged
9,
angiomyolipomas
In
to in
3 4
of
9
the tumors were
None of
17
children
9
and
of
14
aged
14,
patients
patients.
patients,
multiple.
or
of
(41.2%)
aged
to 18.
the childrenhad
anyclinical symptoms
hepatic
signs
Inall
3
liver angiomyolipomas
dysfunction.
except children,
angiomyolipomas. Only
hyperechogenic
with
2
coexisted
ined
renal
of91 exam-
in
the
Involvement
Renal
Renal
had
lesions
patients
pancreas;
did
and renal
neoplasms-multiple angiomyolipomas
2
another had themin
the
These
not
spleen.
changes
theyproduceany
noted
routine
cysts-arefrequently
during
ultrasonography
inthe
nordid
progress
follow-upperiod,
of the abdomen in tuberous sclerosis
areasofincreased
complex patients.
symptoms.
3
to 10
millimeters
Multiple
in
echogenicity,
tosmall
were
diameter,
identified in
corresponding
of24
angiomyolipomas,
Lymphangiomyomatosis
patients,
to show
4
children below
2
of
age.
werefound.
years
(16.7%)
Inall
careful
examinationwas
pediatric
performed
In
2
ofthese
In the
renal
patients, multiple
cysts
to
Initial
involvement.
chest roent-
any pulmonary
at the
of
2
5
group
patients aged
years, multiple
andrenal
in
of this
were done
study
genograms
32 children
beginning
different
werenotedin 10 of24
angiomyolipomas
(41.7%)
renal
from
ofthe
examined
None
agegroups.
or
in
3
children
cysts
olipomas
to
Multiple, bilateral,
(63.9%) patients aged
corticalandsubcortical
(12.5%).
angiomy-
children
of
developed symptoms
pulmonary
signs
in 23
were evident
of36
5
lymphangiomyomatosis.
9
In
4
were
cysts
years.
children,
of
Criteria in Different
apparent.
Renal
Diagnostic
Analysis
AgeGroups
out in 34
presence
to
children 9
carried
ultrasonography
age
14
of
demonstratedthe
ofsubcortical
In
Below
2Years
Children
years
of Age
maculeswerethemost
in
22
ofthem.
and
observed
subcapsular
angiomyolipomas
(64.7%)
frequently
Hypomelanotic
feature oftuberoussclerosis
ofthese
with
4
5
2
the diameter
tumorsreached to cen-
in
the
chil-
children,
complex
youngest
A
timeters.
seen in 89.6%
often
at
dren
were
of
10-year-old
multiple
girl
angiomyolipomas
them,
(Table 5). They
large tumor
6 x 6 x 9 cmin
the
had
a
kid-
birth orin
the
of
measuring
right
earlyinfancy. Theypreceded
appearance
as
aclear cell sarcoma. Rad-
other
signs
and
oftuberous sclerosis
ney,
ical
diagnosed histologically
nephrectomy
symptoms
complex,
was
butthechild
1
died month
such
or
fea-
as
facial
Three other
performed,
epilepsy
turesoftuberoussclerosis
angiofibromas.
complex -
3
later.ll Renal
some
to to 4cmin
were
infantile
spasms,
car-
up
cysts,
diameter,
seenin
In
4
children
diac
and
nodules -were
(11.8%).
13
rhabdomyomas,
found with
subependymal
1
14
to 18
all
of
examined
similar
the
of
combination
Often
except
patients
years
In 4
frequency.
of
there were renal
wereas
macules and
to seek
as
age,
angiomyolipomas (92.3%).
hypomelanotic
encouraged
examinations,
epilepsy
(infantile spasms)
4
as to
5
cm.
intherenal
Further
to
medical attention.
patients, they
Cysts
large
parents
such
in
4
of
werenoted
these children. In
brain CT or
parenchyma
(30.8%)
with the clear cell
asymptomatic.
echocardiography
all
the one
renal
sarcoma,
otherfeaturesoftuberous
sclerosis
were
except
girl
were
identify
of
complex,
in
limitedvalue
could
this
since
these
agegroup,
bedocumented.
angiomyolipomas
other fmdings
only
rarely
OtherVisceral Lesions
oftheabdomenallowedthe
Children
2
to
5
Years
examination
Aged
Ultrasonographic
assessmentnot
of
butalsoofthe
liver, pancreas,
Areas ofincreased
nodules werethe most
initial fea-
only
kidneys
Subependymal
tureoftuberous
frequent
of
group
and
as
this
compared
spleen.
echogenicity,
sclerosis complexin
patients
withthe
toliver
even more commonthan
A
hepatic parenchyma,
weredocumented
(97.3%), being
macules
hypomelanotic
was
surrounding
angiomyolipomas
corresponding
in
1
of24
of
history
present
(4.2%)
(95.3%) (Table6).
epilepsy
in 2
Children Below Years of
Age
ofTuberousSclerosis
Criteria
to Their
Table 5.
ComplexAccording
Frequency
Diagnostic
infantile spasms, when
*Whenthree or
more, ’only
Sclerosis Association.
NTSA National Tuberous
multiple.
Downloaded from jcn.sagepub.com at The University of Auckland Library on May 18, 2015

656
6.
Criteria of Tuberous
to Their
in Children
2to 5 Years
Sclerosis ComplexAccording
Aged
Table
Frequency
Diagnostic
*Whenthree or
infantile
’when
spasms, multiple.
more,’only
NTSA National Tuberous Sclerosis Association.
Facial
and
ascommon
ina
ofthesechildren
werealmost
epilepsy
highpercentage
bromas were observed
(J 1.5%).
angiofi-
in
(97.2%)
8).
(96.2%)
angiofibromas
(Table
in
more
facial
wereseen
77.4%ofchil-
Multiple
often, being
age group.
significantly
in the under
2
Renal
dren. Abdominalultrasoundwasof
not
than
old
63.2%,
angiomyolipomas
being
nificance ofcardiac
years
value, demonstrating
ofthose
examinedbut
in
werealsoseenwithincreased
renal
64.%
only
incidence,
angiomyolipomas
angiomyolipomas
in
of
them. In one
in41.7%ofthese children.
the
also liver
23.5%
However,
diagnosticsig-
age group
child,
in this
was
renalultrasoundrevealed
a
tumor. 12 Inter-
rhabdomyomas
large, malignant
muchlowerthaninthe
were evident
there is also an increased incidence of cardiac
They
youngergroup.
estingly,
in
21.4%ofthose
whichcouldbe
whichwe
asso-
be
only
mainlyby
examined,
explained
other
rhabdomyomas(41.2%),
speculate may
puberty.
thetumors. Insome
the
withhormonal
at
The
of
number
of
ciated
alterations
for
children,
regression
cutaneousorocular
cutaneous
increasedtoo. The
shagreenpatch
helpful
was
findings
(J.3%),
(20.8%),
findings
diagnosis
in
documented
forehead
orretinal
forehead
hamartoma
plaque
in
may
patch
47.2%,
(17.1%)
shagreen
plaque
The
be of
in
and
fibromain 11.3%of
help
diagnosis.
18.9%,
patients.
periungual
ofretinal
was
in
incidence
hamartomas
lowerthan
slightly
to
Children
5 9 Years
the
Aged
previous
age group (17.2%).
themost
and
symptoms
were
frequent
hypome-
Among
lanotic macules
signs
nodules
Children
This
to 18 Years
1 ~
Aged
(97.2%), subependymal
(96.6%),
facial
and
The
of
in
had
a
of
incidence
as
epilepsy (94.3%) (Table
adults,
higher frequency
7).
age group,
increasedto 73.6%. Renal
and
oftuberous sclerosis
many
symptoms
complex
nod-
angiofibromas
weredetectedon
angiomyolipomas
in63.9%
signs
All or
had
abdominalultrasound
liver
of
almostall
subependymal
children;
(Table9).
ules
patients
in someof
them,
apparent.
ingnumberof
head
werealso
macules
or
hypomelanotic
(100%),
(97.2%),
group
cortical andsubcorticaltubers
epilepsy
angiomyolipomas (11.1%)
MRI
examinedwith
Othercutaneousfeatureswereseeninanincreas-
All
8
adolescentsinthis
(96.2%).
the
in34.9%andfore-
and
Renal
were
had
patients:
in 16.0%. Cardiac
multiple
shagreenpatch
(100%).
ultrasound,
detected
abdominal
plaque
rhabdomyomas
angiomyolipomas,
by
(21.1%)
retinal hamartomas
were also
more
facial
than
evident.
common
(20.6%)
(92.3%)
angiofibromas (77.4%).
The incidence of cardiac
butthesmall
was
rhabdomyomas
again high
9
to
makesinterpretationdifficult.
were identified in 46.2% ofthose
Children
Years
1 ~
Aged
(75%),
Liver
sampling
noduleson
in this
CTwereidentifiedinall chil-
brain
Subependymal
dren examined
angiomyolipomas
examined.Amongskin
a
wasnoted
macules
Hypomelanotic
lesions,
patch
shagreen
age group.
7.
Criteria of
to Their
in
Aged5
Children
to 9 Years
Table
TuberousSclerosis
Complex
Diagnostic
According
Frequency
n___..~:_~.._
£’:.........:.&:_--_.....
&dquo;---~-1:_- ¿- +1-
infantile
*Whenthree or
=
’when
multiple.
more, ’only
spasms,
Sclerosis Association.
NTSA National Tuberous
Downloaded from jcn.sagepub.com at The University of Auckland Library on May 18, 2015

657
in
Children
Aged
9
to 14 Years
Table 8.
Criteria of Tuberous Sclerosis
to Their
Diagnostic
ComplexAccording
Frequency
&dquo;When three or
*when
multiple.
infantile
more,’only
National Tuberous
spasms,
NTSA
Sclerosis Association.
2nd
oflife; thelatter
inado-
in 48.1% of
a
forehead
in
and
and5th
tendto
year
patients,
plaque
18.9%,
peri-
firstappear
fibromas in 15.1%. Retinal hamartomas were
lescents andadults
ungual
detectedin 31.3%.
It shouldbestressedthat
oftuberoussclero-
diagnosis
in
sis
difficult
newbornsand
complexis especially
infants,
are unde-
and
DISCUSSION
whenthe
of skin
visceral lesions
majority
In of their low
tectable.
spite
specificity, hypomelanotic
of
remain in
useful
oftuberoussclero-
The
criteriaoftuberoussclerosis
in the affected
maculesstill
importance
complexdepends
diagnostic
ontheir
diagnosis
infantsandsmallchildren.
Multiplehypome-
frequency
popu-
sis complexin
lanoticmaculesareseen
in
of
their
89.6%ofaffectedchildrenunder
lation and
The
for tuberous
specificity.
ofcertain
specificity
2
of
in4-to 6-month-
sclerosis
and
Theonset
age.
infantile
complex
physical
Nevertheless,
years
oldinfantswith
spasms
maculeswas
radiographicsigns
it needs to be
has also been established.
a
sce-
the
frequent
strongly suggest
the
hypomelanotic
studied children and should
in
understoodthatthe
criteriafortuberoussclerosis
nario
diagnostic
andother
init are
Thisfea-
pediatric
oftuberoussclerosis
complex. Usually,
epilep-
complex
dependent.
findings
age
diagnosis
tic fits led
of
ture
restrictstheirusefulnessinsome
to
deteriorationandloss
rapidly
psychomotor
significantly
motorfunction. 16,17 Furtherstudies with echocar-
acquired
diography
the brain
of demonstrated
patients.l3
A
careful skin examination of individuals at risk for
revealedcardiactumorsin83.3%ofchildrenorCT
still
easiest
tuberous sclerosis
the
is
the
method of
complex
diagnosis. 14
sclerosis complexpatients,
periunqual
the oldNationalTuberousSclerosisAsso-
periventricular subependymal
82.9%ofthe children
in
in
cutaneouslesions
facial
nodules
this
age group.
many
establishing
Among
intuberous
Inolder
the
becomeseasier, asmost
canbevisualized
observed
only
children,
diagnosis
fibromas were classified as
ofthe cutaneousandvisceral
and
by
angiofibromas
pathognomonicin
findings
direct
or
stud-
examination,
ultrasonographic
neuroimaging,
criteriaof
are
labeled
to be
ies. The
the cardiac
asits
ciation
19929; they
presently
are
onlyexceptionis
rhabdomyoma,
diagnostic
2
incidence
diminished in children
to
5
and
hormonal
themostdiag-
5
as
features.l°
Unfortunately,
neither
likely
rapidly
years, only
major
aged
due to
to
9
useful in the
ofsmall
as facial
to rise
children,
of
angiofi-
between the
again, perhaps
Inthesetwo
diagnosis
in the
bromas
in
patients
puberty.
develop
majority
changes
agegroups,
to
Their
Frequency
in Children
14to 18 Years
Table 9.
Criteria ofTuberousSclerosis
According
Diagnostic
Complex
Aged
*Small
of examined.
group
’When three or
’when
spasms,
infantile
more,’only
NTSA National Tuberous Sclerosis
multiple.
Association.
Downloaded from jcn.sagepub.com at The University of Auckland Library on May 18, 2015

658
feature was brain
which
The oldest
observed
group
cutaneous
nostic
revealed
tion.
had other
CT,
subependy-
age
malnodulesin
to
of
97.3% children.
96.6%
less
forehead
spe-
findings: shagreenpatches(48.1%),
plaques(18.9%),
Although
wasnotedin
maculesor
a
and
fibromas
hypomelanotic
ofthese
cific,
epilepsy
It shouldbestressedthatthere
periungual
(15.1%).
importance
large
The
of retinal
proportion
wasan
patients.
incidence offacial
diagnostic
regarded
complex
hamartomas,
lesionsoftuberous
is difficulttoassess.
to
as
whichwere
increasing
and renal
angiofibromas (up
pathognomonic
to
lat-
in
The
sclerosis
the 1992
73.6%)
angiomyolipomas (up
63.9%).
criteria,9
ter are more
to
thanto remain
do
Inour
in
of
31.3%
wereseen
the
selectedcases
smallchildrenwhenother
likely
grow
stable; they
studypopulation, they
oldestexamined
only
not
Aninitialnormalrenalultrasounddoesnot
infew
disappear
rule outtheir
group. Nevertheless,
in
bedetected
future
and
development.
theymay
signs
of
inour
viscerallesions are undetectable.23
Wehave omitted some
Theincidence
all
of
epilepsy
The
population
types
was
106
of
96.2%
of
incidence
criteria that in our
(102
patients).
highest
diagnostic
inthe
in
wasobserved
are not
in
infantile spasms
youngestpatients,
of 61 with
experience
diagnosis
include
particularly helpful
oftuberoussclerosis in children.
These
the
establishing
life
in 12 of
the first
6
monthsof
epilepsy),
half of
complex
lymphangiomatosis (due
(52
in the
first
19 children with
second
the
incidence
was66 of 102
to their
low
and
epilepsy
in
pulmonary
in
2
In
the
in
year, and
of
8
the secondyear.
rectal
to
total,
polyps
difficulty
incidence),
(due
unnecessary
sincewe
detection),
in
of infantile
all of our
bone
avoid
childhood
x-ray
expo-
spasms
population
one should
cysts
(to
children with
a
chest
rather
than
x-rays
epilepsy. However,
in these
However,
chestCTscansfor
recognize
sure).
employed
as most
bias
ofthe
were
the
lat-
data,
patients
potential
pulmonarylymphangiomatosis,
collected
referral
we cannot
ter considered
comment authorita-
specialized
our child
through
outpa-
Never-
superior,
neurologic
neurology clinic).
tient clinics
on
of
theincidence
in
(mainly
tively
pulmonary
lymphangiomatosis
it
bestressed
we
for
should
that
ourseries. Theincidence ofenamel
in our
theless,
probed
pits
carefully
population
the onset of
solicited
historical data often not
wasabout30%. Butbecauseoftheiruncertain
for
seizures,
routinely
mayalso
specificity
(especiallyamongadultpatients).
complex,
That
tuberoussclerosis
wehavenotincludedthemin
the
than
incidence ofinfantile
The
truefor
this
sameis
similar
whichwere
explain
anticipated
study.
also seenin
higher
gingivalfibromas,
our
spasmsin
patients.
proportion
with
patients.
may
a
ofour
They
in
CTor
are
also be noted in
oral
or with
brain
poor
studies,
subependymal
complex.
patients
MRI,
helpful
people
hygiene
of
clinicalfeatures tuberoussclerosis
Neuroimaging
visualizationof
nodulesinadolescentswith
These lesions were seen in
use.
phenytoin
tuberous sclerosis
The
of
incidence
almostall ofour
in
WefoundMRI
this
is
in
stud-
group.
complex
usually analyzed separately
age
published
tobe
toCTinthedemonstrationofcorticalandsub-
such as for
cardiac
or renal
superior
cortical
ies,
only
rhabdomyomas
as was described
Sometimes
a
fewstudies
into
take
tubers,
previously
arisefrom
angiomyolipomas.l8Moreover, only
cell
accountthe
ofexamined
Ourarticle
subependymalgiant
malnodules
astrocytomas
subependy-
patients.
represents
age
the
located on
caudate nucleus and
inferior
ofthe headofthe
the
ana-
results of
a
clinical
part
unique
lyzing
rosis
study
comprehensive
into the ventricular
the of
presence
criteria oftuberous scle-
may
grow
cavity
observedthe
diagnostic
in
different
tooccludeoneorbothforaminaof Monro. We
complex
age
groups.
of
cell
on
so
resultsare
Thereare atleasttworeasons
whythese
withtuberoussclerosis
in
development
subsequent
subependymalgiant
astrocytomas
several of
CT scans in
our
for
patients. Despite
cell
important
patients
complex: (1)
children
younger
the
criteria maynotbeas helpful
subependymal
astrocytomas
being benign,
giant
intracranial tumor
existing
as in older
behaves as
a
that can
the
needto be
space-occupying
considerable
ones; therefore,
may
diagnosis
to
and
in
reconsideredfromtimeto timein
this
and
produce
morbidity
complex. 20
macules or
enlarge
mortality
questionable cases;
approach may
diagnosis
sclerosis
withtuberous
shorten the
patients
(2)
suggested diagnostic
to makethe
was
epilepsy
Facial
time
andreduce costs.
hypomelanotic
96%to 97%
Nonspecific
in
required
of our
adolescent
reported
patients.
children.
were seenin 77.4%of
Oneshould
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