J Neurosurg Pediatrics 14:200–202, 2014

©AANS, 2014

Acalvaria

Case report

Ammar H. Hawasli, M.D., Ph.D.,1 Thomas L. Beaumont, M.D., Ph.D.,1

Timothy W. Vogel, M.D., 3 Albert S. Woo, M.D., 2 and Jeffrey R. Leonard, M.D.1
1
Department of Neurosurgery and 2Division of Plastic and Reconstructive Surgery, Washington University
School of Medicine, St. Louis, Missouri; and 3Division of Pediatric Neurosurgery, University of Cincinnati,
Ohio

Acalvaria is a rare congenital malformation characterized by an absence of skin and skull. The authors describe a
newborn at an estimated 38 weeks gestational age who was delivered via cesarean section from a 32-year-old mother.
Upon delivery, the child was noted to have a frontal encephalocele and an absence of calvaria including skull and
skin overlying the brain. A thin membrane representing dura mater was overlying the cortical tissue. After multiple
craniofacial operations, including repair of the encephalocele and application of cultured keratinocytes over the ros-
tral defect, the patient demonstrated significant closure of the calvarial defect and was alive at an age of more than 17
months with near-average development.
(http://thejns.org/doi/abs/10.3171/2014.5.PEDS13688)

Key Words      •      acalvaria      •      congenital malformation      •      spina bifida      •     

acrania

A
calvaria is an extremely rare congenital mal-
formation characterized by an absence of scalp,
skull, and sometimes dura mater.2,3,5,6 Although its
etiology is not clear, it is postulated to represent a post-
neurulation defect. The disorder is usually fatal and may
be associated with other abnormalities. In this report we
describe the presentation and successful management of
a child with antenatally diagnosed acalvaria.
Case Report
History. This female infant of an estimated 37 and
6/7 weeks gestational age was delivered from a 32-year-
old gravida 2, para 0-0-1-0 mother who had received
excellent prenatal care. The prenatal course was compli-
cated by elevated alpha-fetoprotein and weakly positive
acetylcholine esterase, and a fetal nasal encephalocele
was diagnosed at 20 weeks’ gestation. The mother had
undergone two fetal MRI studies, which revealed a soft
tissue mass in the region of the fetal glabella consistent
with an encephalocele. Amniocentesis showed normal
karyotype. The child was delivered via scheduled cesar-
ean section. Delivery was noteworthy for bradycardia and
hypoxia requiring chest compressions, epinephrine thera-
py, and intubation.
Examination. Apgar scores at 0, 5, 10, and 15 min-
utes from delivery were 0, 2, 4, and 5, respectively. The
neonate’s weight was 2.5 kg (< 10th percentile), length
was 47.2 cm (15th percentile), head circumference was
31.9 cm (10th percentile), temperature was 36.8°C, pulse
was 162 bpm, respiratory rate was 78 breaths per minute,
and mean arterial blood pressure was 40 mm Hg. The
prenatally diagnosed 4 × 4 × 4–cm fonticulus frontalis
encephalocele was noted at the glabella. The rostral por-
tion of the head was notable for a large scalp and skull
defect with exposed thin dura (Fig. 1A). Bilateral epican-
thal folds, hypertelorism, and bilateral red reflexes were
present. The nares were patent, the palate was intact, neck
supple, and chest symmetric, and there were bilateral lung
breath sounds. Cardiovascular exam revealed regular
rhythm, normal heart rate, and prominent S2 but no mur-
mur. The abdomen was soft and nondistended, without
organomegaly or masses. No overt stigmata for cervical
or thoracolumbar spinal dysraphisms were noted, and the
anus appeared to be patent and normally placed. Neuro-
logical exam revealed spontaneous eye opening, move-
ment of all extremities, multiple beats of clonus upon heel
This article contains some figures that are displayed in color
on­line but in black-and-white in the print edition.

200 J Neurosurg: Pediatrics / Volume 14 / August 2014

Acalvaria
Fig. 1. Acalvaria.  A: Photograph of acalvaria in a newborn. B: MR image of the brain demonstrating acalvaria and en-
cephalocele.  C and D: Postoperative photographs after repair of acalvaria and encephalocele.
dorsiflexion, normal muscle tone, and intact grasp and
suck reflexes. Postnatal chromosomal microarray analy-
ses revealed no genomic imbalance.
Treatment. Broad-spectrum antibiotics were initiated,
and the defect was immediately covered with a sterile, wet
nonstick dressing. Magnetic resonance imaging of the brain
confirmed the absence of calvaria and skin as well as the
presence of a fonticulus frontalis encephalocele (Fig. 1B).
On Day 2 of life, the exposed dura was gently debrided,
and an Integra dermal regeneration template was applied
at the bedside in the neonatal intensive care unit. Small
wedge-type closing incisions were fashioned in the graft to
improve the contour, and the graft was sutured to the scalp.
The dermal regeneration template was intended to create a
soft tissue layer between the dura and developing skin. If
skin were directly grafted onto the dura, future procedures
on the scalp could threaten dural competency. In addition
to soft tissue augmentation, the Integra graft protected the
wound from infection and moisture loss and served as
scaffolding for the generation of skin cells. On Days 25 and
40 the defect was explored, and new skin generation was
observed over many regions of the exposed dura. During
each of these subsequent procedures, the Integra graft was
reapplied to further augment the soft tissues. By 2 months
of age, the defect had closed significantly. The Integra graft
was removed, and the remaining defect was reconstructed
J Neurosurg: Pediatrics / Volume 14 / August 2014
with the transposition of a small flap of redundant skin on
the occiput and the application of cultured keratinocytes.
After spending the initial 4 months of her life in the hos-
pital, the patient was discharged to her parents’ care. At 6
months of age, the patient underwent resection of the fron-
tonasal encephalocele defect and reconstruction with a pa-
rietal bone graft. Pathology of the lesion showed complex
cortical malformation consistent with encephalocele.
Posttreatment Course. At the time of her last follow-
up clinic visit, the child was 17 months of age and had
experienced no major complications. The encephalocele
was repaired, and the acalvaria skin defect was complete-
ly healed with partial skin pigmentation (Fig. 1C and D).
Palpation and CT studies of the head (Fig. 2) provided ev-
idence of osteogenesis and reduction of the skull defect.
Developmental evaluation using Bayley Scales of Infant
and Toddler Development revealed average age-adjusted
performance in cognitive, language, and motor skills;
however, the child demonstrated developmental delay for
expression, performing at the 9-month-old level. She was
therefore referred for speech therapy.
Discussion
Acalvaria is a rare congenital disorder reported to be
fatal in most neonates. Although three surviving cases
201

Fig. 2.  3D reconstruction of postoperative CT scan showing pro-
gressive closure of the skull defect.
have been reported, there is no consensus on the manage-
ment of this disease. Some authors have reported success
with conservative nonsurgical management.2,5 However,
the children in these cases had scalp overlying their skull
defect, providing protection from meningeal infection.
The child featured in the present report lacked scalp and
skull, leaving a thin dural layer exposed to the outside
elements and prone to physical damage and infection. For
this case, a multidisciplinary approach among pediatric
neurosurgery, plastic surgery, and neonatal intensivists
allowed correction of the patient’s encephalocele and
acalvaria. In addition to closure of the soft tissue defect,
spontaneous bone growth over some of the defect and
near-average neurodevelopment were revealed at the fol-
low-up evaluations. Modern reconstructive technologies
were used to protect underlying tissue and facilitate skin
growth. Although skin substitutes and adjuvants are used
in both neurosurgery and plastic surgery,1,4,7 the present
case represents the first application of these methods for
202
A. H. Hawasli et al.
acalvaria. In summary, the present case is among the few
instances of surviving acrania and demonstrates the pre-
sentation and successful operative management of an in-
fant with the congenital absence of a calavarial vault and
overlying scalp.
Disclosure
The authors report no conflict of interest concerning the mate-
rials or methods used in this study or the findings specified in this
paper.
Author contributions to the study and manuscript preparation
include the following. Conception and design: Hawasli, Leonard.
Acquisition of data: Hawasli, Beaumont, Woo, Leonard. Analysis
and interpretation of data: Hawasli. Drafting the article: Hawasli.
Critically revising the article: all authors. Reviewed submitted ver-
sion of manuscript: all authors. Approved the final version of the
manuscript on behalf of all authors: Hawasli.
References
 1. Gaynor BG, Benveniste RJ, Lieberman S, Casiano R, Mor-
cos JJ: Acellular dermal allograft for sellar repair after trans-
sphenoidal approach to pituitary adenomas. J Neurol Surg B
Skull Base 74:155–159, 2013
  2.  Gupta V, Kumar S: Acalvaria: a rare congenital malformation.
J Pediatr Neurosci 7:185–187, 2012
  3.  Harris CP, Townsend JJ, Carey JC: Acalvaria: a unique con-
genital anomaly. Am J Med Genet 46:694–699, 1993
  4.  Kamel RA, Ong JF, Eriksson E, Junker JP, Caterson EJ: Tis-
sue engineering of skin. J Am Coll Surg 217:533–555, 2013
  5.  Khadilkar VV, Khadilkar AV, Nimbalkar AA, Kinnare AS:
Acalvaria. Indian Pediatr 41:618–620, 2004
  6.  Kurata H, Tamaki N, Sawa H, Oi S, Katayama K, Mochizuki
M, et al: Acrania: report of the first surviving case. Pediatr
Neurosurg 24:52–54, 1996
  7.  Sittitavornwong S, Morlandt AB: Reconstruction of the scalp,
calvarium, and frontal sinus. Oral Maxillofac Surg Clin
North Am 25:105–129, 2013
Manuscript submitted January 6, 2014.
Accepted May 19, 2014.
Please include this information when citing this paper: pub-
lished online June 13, 2014; DOI: 10.3171/2014.5.PEDS13688.
Address correspondence to: Ammar H. Hawasli, M.D., Ph.D.,
Washington University School of Medicine, Department of Neuro-
logical Surgery, 660 S. Euclid Ave., Campus Box 8057, St. Louis,
MO 63110. email: hawaslia@wudosis.wustl.edu.
J Neurosurg: Pediatrics / Volume 14 / August 2014