J Neurosurg 77:230-235, 1992

Atretic cephalocele: the tip of the iceberg

JUAN F. MARTINEZoLAGE, M.D., JOAQUiN SOLA, M.D., CARLOS CASAS, M.D.,

MAXIMO POZA, M.D., MARIA J. ALMAGRO,M.D., AND DIEGO G. GIRONA, M.D.
Regional Service of Neurosurgery and Sections of Neuropathology and Neuropediatrics, University
Hospital Virgen de Arrixaca, El Palmar, Murcia, Spain

Atretic cephalocele appears as an unimportant and benign lesion. This malformation consists of meningeal
and vestigial tissues (arachnoid, glial, or central nervous system rests). The authors report the findings in 16
cases (seven parietal and nine occipital) of rudimentary cephaloceles. Twelve patients presented with associated
brain abnormalities detected by either computerized tomography (CT) or magnetic resonance imaging (MR).
Nine lesions also exhibited an anomalous vascular component demonstrated by CT or MR imaging or at sur-
gery. The existence of this tiny malformation in five cases was the main diagnostic clue to a severe complex
of cerebral anomalies, namely cerebro-oculomuscular (Walker-Warburg) syndrome. An occipital location of
the atretic cephalocele was associated with the worst prognosis, with only two children developing normally.
However, a parietal location carried a better prognosis, which is contrary to the outcome reported in the
current literature.
The authors classify atretic cephaloceles into two types based on histological examination of the surgical
specimens, and suggest that these types represent different stages in the development of this malformation. It
is concluded that, in the evaluation of the atretic cephalocele, the neurosurgeon is obliged to proceed to a
detailed neuroradiological study of the patient and that the prognosis does not depend on the existence of the
cephalocele itself, but rather on associated "occult" brain anomalies.

KEY WORDS atretic cephalocele cerebro-oculomuscular syndrome

encephalocele 9 cranial meningoeele 9 hydrocephalus 9 Walker-Warburg syndrome

EPHALOCELESare congenital herniations of intra- Clinical Material and Methods

C cranial structures through a skull defect. ~3 In

the case of cranial meningocele, the sac contains
meninges and cerebrospinal fluid (CSF). If the sac also
Patient Population
The clinical records of 32 pediatric patients with
cephaloceles who were admitted to our hospital from
contains central nervous system (CNS) tissue, then the
1976 to October, 1991, were reviewed. Sixteen of these
term "encephalocele" is used. James and Lassman ~ in-
cases corresponded to previous descriptions of atretic
troduced the concept of an abortive form of meningo-
cephaloeele. The clinical data were analyzed, including
myelocele in 1972 with the term "meningocele man-
patient's age, sex, antenatal and family history, presen-
qu6," meaning spontaneous arrest in the development
tation, localization of the lesion, and the results of
of that malformation. Several authors have used the
neurological and general examinations. Plain skull ra-
expression "atretic," "abortive," "occult," and "rudi-
diographs and computerized tomography (CT) scans
mentary cephalocele," 2,6,7.16referring to a skin-covered
were obtained for all patients. Contrast-enhanced CT
subsealp lesion that consists of meninges and rests of
was performed in eight children. Magnetic resonance
glial and/or CNS tissues.
(MR) imaging was obtained for only six patients. The
The gross appearance of this malformation is that of
surgical records were also investigated.
an unimportant and benign lesion. McLaurin j~ and
Yokota, et al., ~6 have stressed the high frequency of
associated cerebral malformations with atretic enceph- Pathological Classification
aloceles. Recently, Drapkin" described a more favorable Atretic cephalocele was classified into two categories
prognosis for this anomaly, distinct from the true en- depending on the pathological features (Fig. 1). In a
cephalocele. We report our experience with 16 cases of Type 1 cephalocele, the dural covering consists mainly
this "inoffensive" congenital defect. To our knowledge, of arachnoid tissue found almost exclusively at the
this report constitutes the largest published series of lesion stalk and accompanied by a cluster of anomalous
atretic cephalocele cases with a long follow-up period. blood vessels (Fig. 2 left). It is difficult to ascertain if

230 J. Neurosurg. / Volume 77/August, 1992

Atretic cephalocele
Fie;. 1. Schematic representation of the two types of atretic
cephaloceles, a = arachnoid tissue: b = bone: d = dermis: n =
neuroglial loci; p = brain parenchyma: v = vessels.
these vessels represent arteries or veins. The lesion dome
is composed of fibrous tissue with normal hair follicles.
In a Type 2 cephalocele, the meninges are intermingled
with dermal fibrous tissue. Blood vessels not only exist
FIG. 2. Left: Photomicrograph of a specimen from the dome of a Type 1 atretic cephalocele showing
atrophic squamous epithelium and the underlying rich capillary network that intermingles with fibrous hyaline
tissue. H & E, x 68. Right; Photomicrograph of the stalk of a Type 2 atretic cephalocele. Note the dilated
net of dysplastic vessels, foci of neuroglial elements, and clusters of meningeal cells. H & E, x 170.
J. Neurosurg. / Volume 77 / August, 1992
at the stalk of the malformation but they extend, as a
nel, toward the lesion dome. It was only in this second
type that we encountered ectopic foci of neural or glial
elements (Fig. 2 righl).
Follow- Up Evaluation
Outcomes were determined by reviewing the outpa-
tient records of the children or by direct-mail or tele-
phone inquiry of their parents. Functional results were
evaluated in terms of psychomotor development and
neurological examination.
Results
CWnical k)ndings
There were eight boys and eight girls in the study
group. Fifteen patients were diagnosed after birth, either
during evaluation of congenital hydrocephalus (seven
cases) or directly because of a scalp lesion. The remain-
ing patient was a baby with intrauterine hydrocephalus
who was diagnosed prenatally via MR imaging. The
ages of the patients at the time of consultation or hos-
pitalization ranged from 1 day to 8 months. Six chil-
dren had lesions that were painful during ordinary
care, such as bathing or combing their hair. Two babies
were the product of twin pregnancies. There was a fam-
ily history of epilepsy in two cases and of diabetes in
two others. In three additional cases there was first- or
second-degree consanguinity. Two children with cere-
bro-oculomuscular (Walker-Warburg) syndrome had
siblings with hydrocephalus and ocular anomalies that,
in retrospect, we think might represent the same syn-
drome.
The atretie cephalocele in seven patients was located
in the parietal region and in nine in the occipital re-
gion. The lesions ranged in size from 10 to 35 mm and
were of cystic quality on palpation. They collapsed after
digital compression and seemed to refill slowly. Only
231
 J. F. Martinez-Lage, et al.

FIG. 4. Contrast-enhanced compulerized tomography

FIG. 3. Photograph of a child with an occipital atretic scan in a patient with Walker-Warburg syndrome. Note
cephalocele showing an alopecic lesion surrounded by a hairy marked hydrocephalus, the occipital cephalocele, and the
collar. bright enhancement of the lesion.

three cases exhibited changes in tension with variations Eight patients had macrocephaly. Table 1 summarizes
of intracranial pressure. The cephaloceles were invari- the clinical details of the neurological and general ex-
ably covered by skin, although the surface of the lesions amination and the associated anomalies.
varied. Seven children had alopecic lesions (Fig. 3)
surrounded by a hairy cellar, and in eight cases there Neuroradiological Investigations
was excessive growth of hair over the cyst. Only one In all cases there was a bone defect in the area of the
lesion had the appearance of a "congenital scar" of the cephalocele demonstrated by plain skull radiographs;
scalp. Several cephaloceles presented with angiomatous these were approximately 0.5 to 1.5 cm in diameter and
or discolored skin, and all patients had a palpable had well-defined margins. The cranial gap was oval or
cranial defect. elongated in shape, and the margins were on occasion
The results of neurological examination were normal partially sclerosed. The cephalocele was easily deline-
in eight children; the others showed some abnormality, ated by CT and in most cases had a density close to
such as decreased tone and reflexes or hyperreflexia. that of CSF or was slightly hyperdense in relation to
brain parenchyma. Computerized tomography also
showed the bone defect. In older children the edges of
the cranial gap narrowed from the inside outward. In
TABLE 1 the cases studied after contrast medium infusion the
Neurological examination and associated anomalies in 16 lesion enhanced brightly (Fig. 4). Only four children
patients with atretic cephalocele had a completely normal brain on CT. The findings on
CT and/or M R imaging are summarized in Table 2.
Case Location Neurological Type/Site of
No. of Lesion Findings Associated
Anomalies
1 parietal normal none
2 parietal normal none
3 parietal hydrocephalus, none
hypotonic TABLE 2
4 parietal normal congenital lobar emphysema Computerized tomography and/or magnetic resonance imaging
5 parietal normal Fallot's tetralogy findings in 16 patients with atretic eephalocele
6 parietal normal none
7 parietal normal sacrococcygealdermal sinus Location of Lesion
8 occipital hydrocephalus, none Finding
hypotonic Parietal Occipital
9 occipital normal none normal 3 1
10 occipital hydrocephalus none atretic cephalocele 6 9
11 occipital hydrocephalus, eyes, muscle,hands triveniricularhydrocephalus 1 7
hypotonic dilated lateral ventricles 2 1
12 occipital hydrocephalus, eyes, muscle partial agenesisof corpus callosum 0 6
hypotonic interhemisphericoccipitalcyst 4 0
13 occipital hydrocephalus,
eyes, muscle, hands, heart porencephalicoccipitalcyst 0 1
hypotonic (interventricularcommuni- septnm pellucidumcyst 1 0
cation) agenesisof cerebellarvermis 1 5
14 occipital hydrocephalus, eyes, muscle? posterior fossa cyst 0 6
hypotonic agyria 0 5
15 occipital normal occipitaldermal sinus hypodensityof white matter 0 5
16 occipital hydrocephalus, eyes, muscle interhemisphericfrontal fusion 0 2
hypotonic anomalous draining vein 4 5

232 J. Neurosurg. / Volume 77/August, 1992

Atretic c e p h a l o c e l e
FI(;. 5. Computerized tomography scan showing an inter-
hemispheric occipital arachnoid cyst, a frequent finding in
parietal rudimentary cephaloceles.
The presence of an interhemispheric occipital arach-
noid cyst (Fig. 5) was observed in four of the seven
parietal atretic cephaloceles. In several cases contrast-
enhanced CT scans demonstrated a large vessel within
the cephalocele.
Magnetic resonance imaging was performed prena-
tally in one case and demonstrated several cerebral
anomalies that suggested a diagnosis of cerebro-oculo-
muscular syndrome. Five additional patients under-
went MR imaging, which aided in defining the relation-
ship of the lesion to the sagittal sinus (Fig. 6) and in
delineating the intracranial anomalies.
Operative Findings
Thirteen patients underwent surgical repair of the
cephalocele. The parents refused surgery for two chil-
dren, and one child with a flattened lesion was not of-
fered surgical intervention. The operative procedure
consisted of an elliptical incision at the base of the
malformation, followed by dissection and extirpation
of the sac contents. Surgical findings ranged from an
apparent fibrous stalk to a cystic cavity. In 10 patients
the stalk was attached to the dura or to the sagittal
sinus. Three cases had cystic lesions that communicated
directly with a dilated subarachnoid space. Nine chil-
dren had richly vascularized lesions with numerous and
engorged vessels in both the dura and the stalk. At the
end of the operation, the margins of the cranial defect
were rongeured and pieces of bone were placed over
the dura since, in our experience, congenital bone de-
fects do not ossify spontaneously. A ventriculoperito-
neal shunt was placed in the seven children with pro-
gressive hydrocephalus.
The 13 surgical specimens were submitted to histo-
logical examination. Six cases corresponded to Type 1
atretic cephalocele and seven to Type 2.
J. Neurosurg. / Volume 77/August, 1992
FIG. 6. Magnetic resonance image of a child with a parietal
atretic cephaloceledemonstrating the relationship of the lesion
with the bone defect and the underlying sagittal sinus.
OlllCottle
After a mean follow-up period of 5.6 years, eight
children showed normal psychomotor development,
two were mildly retarded, and two were severely hand-
icapped. Four patients died; three children with cerebro-
oculomuscular syndrome succumbed to bronchoaspira-
tion and one died of pulmonary embolism complicating
ventriculoatrial shunting. It is important to note that
five of the babies with occipital atretic cephalocele suf-
fered from cerebro-oculomuscular (Walker-Warburg)
syndrome. The best prognosis was seen in patients with
a cephalocele located in the parietal region, with six of
these seven children developing normally. On the con-
trary, an occipital location of the cephalocele indicated
the worst outcome, with only two of these nine children
showing normal psychomotor development.
Discussion
Etiology and Pathogenesis of Atretic Cepha[oceles
The etiology of cephaloceles is obscure, the majority
of cases being sporadic. Nevertheless, some cases have
a genetic determination and occur in families with other
malformations of the CNS? A complex of cerebral, oc-
ular, and muscular anomalies, including cephalocele in
50% of the cases, has been described as Walker-Warburg
(or cerebro-oculomuseular) syndrome, an autosomic
recessive disorder. 5 Experimentally, several teratogens,
such as trypan blue dye, x-ray exposure, and excessive
doses of vitamin A, may induce cephaloceles. 1~ In
our series, four patients had a history of familial epi-
lepsy or diabetes. In four additional cases there was a
history of consanguinity or ethnic isolation, factors that
are known to increase the risk of recessive traits, espe-
cially very rare ones.
Regarding the development of cephaloceles, there is
a controversy between those who suggest that the lesion
is the result of a failure of the neural tube to close and
those who support the belief that the neural tube closes
normally, reopens, and then proceeds abnormally. 13
233

Drapkin '~ suggested that atretic cephalocelcs constitute
neural crest renmants. Based on the lngalls' work on
embryos, Inoue, et al.] attributed the origin of atretic
cephaloceles to the persistence of the nuchal bleb. Yo-
kota, etal., '~' proposed that these lesions come from
the involution in utero of larger encephaloceles or
meningoceles. McLone and Bondareff ~' showed that
the three layers of the meninges, the membranous bones
of the skull, and the blood vessels originate from a
multipotential primary, mesenchyme that is interposed
between the closed neural tube and the superficial one-
layered squamous ectoderm after the 9th day of fetal
life. In our view, these abortive cephaloceles (which are
frequently associated with abnormal arachnoid pouches
and anomalous vessels) are formed as the consequence
of an insult, either genetic or infectious, that involves
this multipotential primary mesenchyme and the prim-
itive neural tube.
Incidence oJAtretic Cephaloceles
Yokota, el al., ~' reported a 37.5 % incidence of atretic
cephaloceles in relation to all types of cephaloceles. At
our institution, 16 (50%) of 32 cases of cephaloceles
were atretic.
Hi~tological Features
McLaurin ~~classified cephaloceles into tbur groups:
1) encephaloceles; 2) heterotopic glial rests; 3) menin-
goceles with central connection; and 4) meningoceles
without central connection. Drapkin ~ described two
varieties of rudimentary cephaloceles: Group A in
which there is no bone defect underlying the malfor-
mation and which corresponds to the heterotopic glial
rest group reported by McLaurin '~ and Orkin and
Fisher12; and Group B which refers to those lesions that
have an osseous defect and communicate with the
central cavity. Schlitt, et al., H suggested that probably
all these malformations contain a neuroglial compo-
nent and that its detection depends on a thorough
examination of the pathological specimens. The classi-
fication into our proposed Types 1 and 2 relates to the
presence or absence of abnormal vasculature and neural
and glial elements within the dome of the lesion. An
equal number of these two types of the malformation
were located in the parietal and occipital regions. These
two varieties of atretic cephaloceles probably represent
different stages in the development of the lesion.
Vascularization of Atrelic Cephaloceles
The coexistence of atretic cephalocele with anomalies
of the sagittal sinus was described first by McLaurin ~~
in 1964, and again in 1983 by Inoue, et a[. 7 The latter
group reported six cases studied by angiography, in
which they found an anomalous upward course of the
straight sinus, elongation of the vein of Galen, and
splitting of the sagittal sinus around the cord of the
malformation. A relationship between atretic menin-
gocele and parietal foramina has also been documented,
934
J. F. M a r t i n e z - L a g e , e t a l .
revealing the vascular component of these cephalo-
celes.' In our series, the presence of anomalous vessels
within the malformation was demonstrated by CT in
all cases where contrast medium was administered. A
pattern of primitive vascularization was also histologi-
cally proven in most cases, suggesting the persistence
of fetal vessels that feed the herniated tissues.
Associated Cerebral Malformations and Prognosis
Parietal cephaloceles have been frequently associated
with severe intracranial malformations that obscure
their prognosis. ~9~5 ~7 Yokota, e t a l . , ~' reported five
cases of the parietal form of cephalocele that were
associated with a dorsal cyst malformation, as opposed
to five occipital midline atretic cephaloceles that ap-
peared normal on CT scans and resulted in normal
development. In a recent article, Drapkin 6 described a
good outcome in his three cases of rudimentary ceph-
alocele without associated anomalies. In our experience,
occipital atretic cephaloceles carry a very somber prog-
nosis, with only two of nine children developing nor-
mally. In five of our patients, the occipital lesion was
part of the Walker-Warburg syndrome. 5 The different
prognosis reported by Yokota, etal., from that in our
series probably depends on the racial and geographic
variations described for cephaloceles in general.
Di~brential Diagnosis
The differential diagnosis of atretic cephalocele in
our cases was established with sinus pericranii or der-
moid cysts. Clinical findings of sinus pericranii include
a subscalp soft tumor that empties when the patient is
standing and refills when the patient is lying down.
Plain skull radiographs show a thinning of the external
skull table, and needle aspiration demonstrates that the
mass is filled with venous blood. Sinus pericranii may
be located in the parietal region at or near the midline.
Dermoid cysts of the scalp and vault tend to present at
the occipital midline. They are firmer than cephaloceles
and may be covered by reddened skin. On plain radio-
graphs, the shape of the bone defect of the dermoid
cyst is rounded with partially sclerosed margins; in
atretic cephalocele, the osseous defect is oval or elon-
gated. On CT studies, the edges of the dermoid cyst
bone defect narrow from the outside inward; the op-
posite is seen with atretic cephaloceles, in which the
defect margins narrow from the inside outward. Scalp
dermoid cysts do not enhance on CT after contrast
administration, while atretic cephaloceles stain vividly.
To improve the delineation of occipital cephaloceles on
CT, we tilt the child's head to one side to avoid col-
lapse of the lesion by the weight of the patient's head.
Conclusions
We suggest that cases of rudimentary cephaloceles
should undergo a complete neuroradiological evalua-
tion, either by CT or MR imaging, as they may be as-
sociated with several underlying brain malformations.
J. Neurosurg. / Volume 77/August, 1992
Atretic cephalocele
Obviously, it is the underlying brain malformation that
determines the prognosis and not the small cephalocele.
In most cases, surgical repair of the lesion is advisable
for many reasons: 1) cosmetic reasons; 2) to avoid the
rupture or ulceration of the lesion due to its prominent
situation; 3) many of these cephaloceles seem to be very
painful when the baby cries or strains, probably due to
the stretching of the dural component; 3 and 4) to obtain
a histological diagnosis. As in other mass lesions of the
cranial midline, surgical intervention should be per-
formed by neurosurgeons to avoid injuring the venous
sinuses and because the repair may require intradural
exploration.
Acknowledgments
The authors express their appreciation and gratitude to Mr.
Saturnino Espin for photographic work and to Mrs. Mari
Carmen G. Navarro and Mr. Antonio L. Alarcon for secretar-
ial help.
References
1. Aoyagi M, Matsuhima Y, Takei H, et al: Parietal foram-
ina complicated by meningocele. Childs Nerv Syst l:
234-237, 1985
2. Commens C, Rogers M, Klan A: Heterotropic brain tissue
presenting as bald cysts with a collar of hypertrophic hair.
The "hair collar" sign. Arch Dermatol 125:1253-1256,
1989
3. Curnes JT, Oakes WJ: Parietal cephaloceles: radiographic
and magnetic resonance imaging evaluation. Pediatr Neu-
rosci 14:71-76, 1988
4. DieblerC, Dulac O: Cephaloceles: clinical and neuroradio-
logical appearance. Associated cerebral malformations.
Neuroradiology 25:199-216, 1983
5. Dobyns WB, Pagon RA, Armstrong D, eta]: Diagnostic
criteria for Walker-Warburg syndrome. Am J Med Genet
32:195-210, 1989
J. Neurosurg. / Volume 77/August, 1992
6. Drapkin AJ: Rudimentary cephalocele or neural crest
remnant? Neurosurgery 26:66%674, 1990
7. Inoue Y, Hakuba A, Fujitani K, et al: Occult cranium
bifidum. Radiological and surgical findings. Neuroradiol-
ogy 25:217-223, 1983
8. James CCM, Lassman LP: Spinal Dysraphisms: Spina
Bifida Occulta. London: Butterworths, 1972, pp 89-97
9. Lee CM Jr, McLaurin RL: Heterotopic brain tissue as an
isolated embryonic rest. d Neurosurg 12:190-195, 1955
10. McLaurin RL: Parietal cephaloceles. Neurology 14:
764-772, 1964
11. McLone DG, Bondareff W: Developmental morphology
of the subarachnoid space and contiguous structures in
the mouse. Am J Anat 142:273-294, 1975
12. Orkin M, Fisher I: Heterotopic brain tissue (heterotopic
neural rest). Case report with review of related anomalies.
Arch Dermatol 94:699-708, 1966
13. Reigel DH: Encephalocele, in Section of Pediatric Neu-
rosurgery of the American Association of Neurological
Surgeons (eds): Pediatric Neurosurgery. Surgery of the
Developing Nervous System. New York: Grune & Strat-
ton, 1982, 19p 49-60
14. Schlitt M, Williams JP, Bastian FO, et al: The small
midline occipital encephalomeningocele: definition of a
syndrome. Neurosurgery 24:613-616, 1989
15. Yamada H, Sakata K, Kashiki Y, et al: Peculiar congenital
parieto-occipital head tumor: report of 3 cases. Childs
Brain 5:426-432, 1979
16. Yokota A, Kajiwara H, Kohehi M, et al: Parietal cepha-
locele: clinical importance of its atretic form and associ-
ated malformations. J Neurosurg 69:545-551, 1988
17. Yokota A, Matsukado Y: Congenital midline porenceph-
aly: a new brain malformation associated with scalp anom-
aly. Childs Brain 5:380-397, 1979
Manuscript received August 16, 1991.
Accepted in final form January 8, 1992.
Address reprint requests to: Juan F. Martinez-Lage, M.D.,
Regional Service of Neurosurgery, University Hospital Virgen
de Arrixaca, El Palmar, E-30120 Murcia, Spain.
235