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
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
Fie;. 1. Schematic representation of the two types of atretic siblings with hydrocephalus and ocular anomalies that,
cephaloceles, a = arachnoid tissue: b = bone: d = dermis: n = in retrospect, we think might represent the same syn-
neuroglial loci; p = brain parenchyma: v = vessels. drome.
The atretie cephalocele in seven patients was located
these vessels represent arteries or veins. The lesion dome in the parietal region and in nine in the occipital re-
is composed of fibrous tissue with normal hair follicles. gion. The lesions ranged in size from 10 to 35 mm and
In a Type 2 cephalocele, the meninges are intermingled were of cystic quality on palpation. They collapsed after
with dermal fibrous tissue. Blood vessels not only exist digital compression and seemed to refill slowly. Only

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 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

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.

FI(;. 5. Computerized tomography scan showing an inter-

hemispheric occipital arachnoid cyst, a frequent finding in
parietal rudimentary cephaloceles. 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-
The presence of an interhemispheric occipital arach-
icapped. Four patients died; three children with cerebro-
noid cyst (Fig. 5) was observed in four of the seven
oculomuscular syndrome succumbed to bronchoaspira-
parietal atretic cephaloceles. In several cases contrast-
tion and one died of pulmonary embolism complicating
enhanced CT scans demonstrated a large vessel within
ventriculoatrial shunting. It is important to note that
the cephalocele.
five of the babies with occipital atretic cephalocele suf-
Magnetic resonance imaging was performed prena-
fered from cerebro-oculomuscular (Walker-Warburg)
tally in one case and demonstrated several cerebral
syndrome. The best prognosis was seen in patients with
anomalies that suggested a diagnosis of cerebro-oculo-
a cephalocele located in the parietal region, with six of
muscular syndrome. Five additional patients under-
these seven children developing normally. On the con-
went MR imaging, which aided in defining the relation-
trary, an occipital location of the cephalocele indicated
ship of the lesion to the sagittal sinus (Fig. 6) and in
the worst outcome, with only two of these nine children
delineating the intracranial anomalies.
showing normal psychomotor development.
Operative Findings
Discussion
Thirteen patients underwent surgical repair of the
cephalocele. The parents refused surgery for two chil- Etiology and Pathogenesis of Atretic Cepha[oceles
dren, and one child with a flattened lesion was not of- The etiology of cephaloceles is obscure, the majority
fered surgical intervention. The operative procedure of cases being sporadic. Nevertheless, some cases have
consisted of an elliptical incision at the base of the a genetic determination and occur in families with other
malformation, followed by dissection and extirpation malformations of the CNS? A complex of cerebral, oc-
of the sac contents. Surgical findings ranged from an ular, and muscular anomalies, including cephalocele in
apparent fibrous stalk to a cystic cavity. In 10 patients 50% of the cases, has been described as Walker-Warburg
the stalk was attached to the dura or to the sagittal (or cerebro-oculomuseular) syndrome, an autosomic
sinus. Three cases had cystic lesions that communicated recessive disorder. 5 Experimentally, several teratogens,
directly with a dilated subarachnoid space. Nine chil- such as trypan blue dye, x-ray exposure, and excessive
dren had richly vascularized lesions with numerous and doses of vitamin A, may induce cephaloceles. 1~ In
engorged vessels in both the dura and the stalk. At the our series, four patients had a history of familial epi-
end of the operation, the margins of the cranial defect lepsy or diabetes. In four additional cases there was a
were rongeured and pieces of bone were placed over history of consanguinity or ethnic isolation, factors that
the dura since, in our experience, congenital bone de- are known to increase the risk of recessive traits, espe-
fects do not ossify spontaneously. A ventriculoperito- cially very rare ones.
neal shunt was placed in the seven children with pro- Regarding the development of cephaloceles, there is
gressive hydrocephalus. a controversy between those who suggest that the lesion
The 13 surgical specimens were submitted to histo- is the result of a failure of the neural tube to close and
logical examination. Six cases corresponded to Type 1 those who support the belief that the neural tube closes
atretic cephalocele and seven to Type 2. normally, reopens, and then proceeds abnormally. 13

J. Neurosurg. / Volume 77/August, 1992 233

 J. F. M a r t i n e z - L a g e , e t a l .

Drapkin '~ suggested that atretic cephalocelcs constitute revealing the vascular component of these cephalo-
neural crest renmants. Based on the lngalls' work on celes.' In our series, the presence of anomalous vessels
embryos, Inoue, et al.] attributed the origin of atretic within the malformation was demonstrated by CT in
cephaloceles to the persistence of the nuchal bleb. Yo- all cases where contrast medium was administered. A
kota, etal., '~' proposed that these lesions come from pattern of primitive vascularization was also histologi-
the involution in utero of larger encephaloceles or cally proven in most cases, suggesting the persistence
meningoceles. McLone and Bondareff ~' showed that of fetal vessels that feed the herniated tissues.
the three layers of the meninges, the membranous bones
of the skull, and the blood vessels originate from a Associated Cerebral Malformations and Prognosis
multipotential primary, mesenchyme that is interposed Parietal cephaloceles have been frequently associated
between the closed neural tube and the superficial one- with severe intracranial malformations that obscure
layered squamous ectoderm after the 9th day of fetal their prognosis. ~9~5 ~7 Yokota, e t a l . , ~' reported five
life. In our view, these abortive cephaloceles (which are cases of the parietal form of cephalocele that were
frequently associated with abnormal arachnoid pouches associated with a dorsal cyst malformation, as opposed
and anomalous vessels) are formed as the consequence to five occipital midline atretic cephaloceles that ap-
of an insult, either genetic or infectious, that involves peared normal on CT scans and resulted in normal
this multipotential primary mesenchyme and the prim- development. In a recent article, Drapkin 6 described a
itive neural tube. good outcome in his three cases of rudimentary ceph-
alocele without associated anomalies. In our experience,
Incidence oJAtretic Cephaloceles occipital atretic cephaloceles carry a very somber prog-
Yokota, el al., ~' reported a 37.5 % incidence of atretic nosis, with only two of nine children developing nor-
cephaloceles in relation to all types of cephaloceles. At mally. In five of our patients, the occipital lesion was
our institution, 16 (50%) of 32 cases of cephaloceles part of the Walker-Warburg syndrome. 5 The different
were atretic. prognosis reported by Yokota, etal., from that in our
series probably depends on the racial and geographic
Hi~tological Features variations described for cephaloceles in general.
McLaurin ~~classified cephaloceles into tbur groups: Di~brential Diagnosis
1) encephaloceles; 2) heterotopic glial rests; 3) menin-
goceles with central connection; and 4) meningoceles The differential diagnosis of atretic cephalocele in
without central connection. Drapkin ~ described two our cases was established with sinus pericranii or der-
varieties of rudimentary cephaloceles: Group A in moid cysts. Clinical findings of sinus pericranii include
which there is no bone defect underlying the malfor- a subscalp soft tumor that empties when the patient is
mation and which corresponds to the heterotopic glial standing and refills when the patient is lying down.
rest group reported by McLaurin '~ and Orkin and Plain skull radiographs show a thinning of the external
Fisher12; and Group B which refers to those lesions that skull table, and needle aspiration demonstrates that the
have an osseous defect and communicate with the mass is filled with venous blood. Sinus pericranii may
central cavity. Schlitt, et al., H suggested that probably be located in the parietal region at or near the midline.
all these malformations contain a neuroglial compo- Dermoid cysts of the scalp and vault tend to present at
nent and that its detection depends on a thorough the occipital midline. They are firmer than cephaloceles
examination of the pathological specimens. The classi- and may be covered by reddened skin. On plain radio-
fication into our proposed Types 1 and 2 relates to the graphs, the shape of the bone defect of the dermoid
presence or absence of abnormal vasculature and neural cyst is rounded with partially sclerosed margins; in
and glial elements within the dome of the lesion. An atretic cephalocele, the osseous defect is oval or elon-
equal number of these two types of the malformation gated. On CT studies, the edges of the dermoid cyst
were located in the parietal and occipital regions. These bone defect narrow from the outside inward; the op-
two varieties of atretic cephaloceles probably represent posite is seen with atretic cephaloceles, in which the
different stages in the development of the lesion. defect margins narrow from the inside outward. Scalp
dermoid cysts do not enhance on CT after contrast
Vascularization of Atrelic Cephaloceles administration, while atretic cephaloceles stain vividly.
To improve the delineation of occipital cephaloceles on
The coexistence of atretic cephalocele with anomalies CT, we tilt the child's head to one side to avoid col-
of the sagittal sinus was described first by McLaurin ~~ lapse of the lesion by the weight of the patient's head.
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 Conclusions
straight sinus, elongation of the vein of Galen, and We suggest that cases of rudimentary cephaloceles
splitting of the sagittal sinus around the cord of the should undergo a complete neuroradiological evalua-
malformation. A relationship between atretic menin- tion, either by CT or MR imaging, as they may be as-
gocele and parietal foramina has also been documented, sociated with several underlying brain malformations.

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

Atretic cephalocele

Obviously, it is the underlying brain malformation that 6. Drapkin AJ: Rudimentary cephalocele or neural crest
determines the prognosis and not the small cephalocele. remnant? Neurosurgery 26:66%674, 1990
In most cases, surgical repair of the lesion is advisable 7. Inoue Y, Hakuba A, Fujitani K, et al: Occult cranium
bifidum. Radiological and surgical findings. Neuroradiol-
for many reasons: 1) cosmetic reasons; 2) to avoid the
ogy 25:217-223, 1983
rupture or ulceration of the lesion due to its prominent 8. James CCM, Lassman LP: Spinal Dysraphisms: Spina
situation; 3) many of these cephaloceles seem to be very Bifida Occulta. London: Butterworths, 1972, pp 89-97
painful when the baby cries or strains, probably due to 9. Lee CM Jr, McLaurin RL: Heterotopic brain tissue as an
the stretching of the dural component; 3 and 4) to obtain isolated embryonic rest. d Neurosurg 12:190-195, 1955
a histological diagnosis. As in other mass lesions of the 10. McLaurin RL: Parietal cephaloceles. Neurology 14:
764-772, 1964
cranial midline, surgical intervention should be per-
11. McLone DG, Bondareff W: Developmental morphology
formed by neurosurgeons to avoid injuring the venous of the subarachnoid space and contiguous structures in
sinuses and because the repair may require intradural the mouse. Am J Anat 142:273-294, 1975
exploration. 12. Orkin M, Fisher I: Heterotopic brain tissue (heterotopic
neural rest). Case report with review of related anomalies.
Acknowledgments Arch Dermatol 94:699-708, 1966
13. Reigel DH: Encephalocele, in Section of Pediatric Neu-
The authors express their appreciation and gratitude to Mr. rosurgery of the American Association of Neurological
Saturnino Espin for photographic work and to Mrs. Mari Surgeons (eds): Pediatric Neurosurgery. Surgery of the
Carmen G. Navarro and Mr. Antonio L. Alarcon for secretar- Developing Nervous System. New York: Grune & Strat-
ial help. ton, 1982, 19p 49-60
14. Schlitt M, Williams JP, Bastian FO, et al: The small
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J. Neurosurg. / Volume 77/August, 1992 235