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Central Nervous System

Anomalies

Name:

Meningocele, cranial - occipital

Description:

Cephalocele is the protrusion of intracranial contents through a bony defect in the skull or through one of the parietal foramina. Cranial meningocele refers to herniation of meninges only, while encephalocele implies that brain tissue lies within the herniated sac. Larger defects may extend caudally to involve and disrupt the cervical spine, a condition then known as craniorachischisis. The defect is thought to be a consequence of defective rostral neurulation, unlike the frontoethmoidal cephalocele. Occipital cephaloceles have also been associated with rubella, diabetes, genetic syndromes, and amniotic band syndrome.

Diagnosis:

Most cephaloceles are occipital; the presence of a posterior midline extracranial mass is characteristic. An underlying cranial bony defect is the rule but may be difficult to demonstrate if small. The mass is seen to derive from and move with the fetal head, and may be cystic, solid or both, representing meningocele, cephalocele, or meningoencephalocele respectively. This distinction is important as the prognosis will depend on the contents; demonstration of brain tissue in the herniated sac confers significant mortality (44%) and impaired cognitive development (91%). Cranial meningoceles, in contrast, have a very low mortality, and 40% will demonstrate impaired cognitive function later. Transvaginal ultrasound provides the enhanced resolution required to make an accurate diagnosis at an early stage, and is recommended in the evaluation of this condition. Hydrocephalus is often evident, being present in 80% of meningoceles and 65% of encephaloceles. Microcephaly is observed in 20%; agenesis of the corpus callosum, Dandy-Walker malformation, and spina bifida have been reported. Other abnormalities include omphalocele, cleft lip and palate. The presence of occipital meningocele in combination with renal cystic dysplasia will prompt the diagnosis of the Meckel-Gruber syndrome. Chromosomal abnormalities have been reported in 13-50% and include trisomy 13, trisomy 18, mosaic trisomy 20, triploidy, mosaic Turner syndrome, balanced pericentric inversions, reciprocal and balanced translocations, and an enlarged proximal portion of the long arm of chromosome 1.

Differential Diagnosis:

The identification of an extracranial mass will prompt consideration of the following: In exencephaly, no cranium will be evident at all. Scalp oedema due to fetal hydrops may be seen in association with pleural effusions and ascites. Cystic hygroma is usually a bilateral cystic mass which may contain septations. Tumours such as cranial teratomas and mesenchymal sarcomas are likely to have a solid or complex appearance. In iniencephaly the fetal head is held in fixed retroversion, and cervical dysraphism is evident. Occipital haemangiomas have been reported, and Doppler flow studies may help confirm the diagnosis. Branchial cleft cysts are generally found inferior, anterior and lateral to the occipitocervical region.

Sonographic Features:

Cranial bony defect in occipital or parietal region which may be difficult or even impossible to find if very small If cystic, meningocele is likely; ascertain if solid components are present within the herniated sac, as this will alter the prognosis May be associated hydrocephaly or microcephaly Polyhydramnios, neural tube defects or cystic renal dysplasia (Meckel-Gruber syndrome) may co-exist

Video


2 Cephalocele occipital

Images


2 Cephalocele - occipital

Associated Syndromes


Anophthalmia-NTD
Carbamazepine
Cerebro-costo-mandibular mandibular
CHILD
Chromosomal
Czeizel-Losonci
Focal dermal hypoplasia
Fullana
Goldberg
Kousseff
Laterality sequence
Lehman
Maternal diabetes
Maternal hyperthermia
Melanocytosis-myelomeningocele
OEIS association
PHAVER
Renal-Mullerian agenesis
Scalp defect-craniostenosis
Thoracoabdominal eventration
Valproate
Waardenberg Type I
X-linked midline defects
X-linked neural tube defects

References


Cephalocele detection in utero: sonographic and clinical features
Budorick NE, Pretorius DH, McGahan JP, Grafe MR, James HE, Slivka J
Ultrasound Obstet Gynecol 5: 77-85

Syndromes identified in fetuses with prenatally diagnosed cephaloceles
Wininger SJ, Donnenfeld AE
Prenat Diagn 14: 839-843

Prenatal sonographic diagnosis of scalp edema/cephalohematoma mimicking an encephalocele
Winter TC, Mack LA, Cyr DR
AJR 161: 1247-1248

Fetal cephaloceles: diagnosis with US
Goldstein RB, LaPidus AS, Filly RA
Radiology 180: 803-808

Prenatal diagnosis of occipital encephalocele with transvaginal sonography
Fleming AD, Vintzileos AM, Scorza WE
J Ultrasound Med 10: 285-286

Early second-trimester sonographic appearance of occipital haemangioma simulating encephalocele
Bronshtein M, Bar-Hava I, Blumenfeld Z
Prenat Diagn 12: 695-698

The role of sonography in the prenatal diagnosis and management of encephalocele
Graham D, Johnson TR, Winn K, Sanders RC
J Ultrasound Med 1: 111-115

A case of occipital encephalocele combined with the right lung aplasia in a twin pregnancy
Becker R, Novak A, Rudolph K-H
J Perinat Med 21: 253-258

Fetal hemangioma overlying the temporal occipital structure, initially diagnosed by ultrasonography as an encephalocele
Sherer DM, Perillo AM, Abramowicz JS
J Ultrasound Med 12: 691-693

Prenatal sonographic detection of giant parietal foramina
Fernandez G, Hertzberg BS
J Ultrasound Med 11: 155-157

Hemangioma presenting as a cystic mass in the fetal neck
Grundy H, Glasmann A, Burlbaw J, Walton S, Dannar C, Doan L
J Ultrasound Med 4; 147-150

Prenatal diagnosis of fetal cephalocele: a sonographic spectrum
Jeanty P, Shah D, Zaleski W, Ulm J, Fleischer A
Am J Perinatol 8: 144-149

A ten-year review of encephalocele in a teaching hospital
Adetiloye VA, Dare FO, Oyelami OA
Int J Gynecol Obstet 41: 241-249

Fetal Hemangioma: sonogrphic and color flow doppler findings
Bulas DI, Johnson D, Fonda Allen J, Kapur S
J Ultrasound Med 11: 499-501

Prenatal diagnosis and pediatric neurosurgery.
Bell WO; Nelson LH; Block SM; Rhoney JC
Pediatr Neurosurg;24(3):134-7; discussion 138

Neural tube defects in chromosomally normal and abnormal human embryos.
Coerdt W; Miller K; Holzgreve W; Rauskolb R; Schwinger E; Rehder H
Ultrasound Obstet Gynecol Dec;10(6):410-5

Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases.
Kennedy D; Chitayat D; Winsor EJ; Silver M; Toi A
Am J Med Genet May 26;77(4):317-21

Prenatal diagnosis of an epidermal scalp cyst simulating an encephalocoele.
Shahabi S; Busine A
Prenat Diagn Apr;18(4):373-7