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This study reports a Chinese family that has suffered from occipital encephalocele over five generations with a pattern of autosomal dominant inheritance. There were 113 family members in this family, and 21 of them had an occipital subscalp encephalocele. The patients with the disease showed normal or nearly normal neurological function.
A congenital intranasal encephalocele is repaired at 23 months of age via a transnasal endoscopic approach. To the best of our knowledge, this is the youngest patient reported in the literature to be treated successfully with this approach. The technique and methods are described. This case highlights the importance of endoscopic approaches to encephaloceles resulting in less morbidity than a traditional craniotomy. Continued advances in technology and skill will increase the feasibility of transnasal endoscopic skull base surgery in younger patients.
PURPOSE: To highlight an apparently unreported association between orbital varices and malformations of the cranial skeleton with or without abnormalities of the underlying cerebral parenchyma. DESIGN: Retrospective, noncomparative review of case notes and radiologic imaging. PARTICIPANTS: Three hundred ten patients attending the Orbital Clinic at Moorfields Eye Hospital, London, with a diagnosis of low-pressure, low-flow orbital venous anomalies. METHODS: All available orbital imaging for patients with orbital venous anomalies was examined. For those with defects of the cranial base, the radiologic characteristics were noted and the clinical details were reviewed. MAIN OUTCOME MEASURES: The presence and type of orbital roof or medial wall defects and associated nasal or other cranial anomalies. RESULTS: Imaging was adequate for review in 222 of 310 patients (72%), and anomalies of the neighboring cranium or cerebral structure were found in 10 of 222 patients (4.5%). In the group with cranial anomalies, the proportion of men (7/10; 70%) did not significantly differ from that in the group with varices but without cranial anomalies (93/212; 44%; P = 0.19, Fisher exact test). Orbital varices were associated with 3 types of cranial anomaly: major midline encephaloceles (type I anomaly; 4 cases), large superomedial defects of the orbital wall (type II; 3 cases), or defects of the greater wing of the sphenoid (type III; 3 cases). CONCLUSIONS: Clinicians should be aware of the possibility of significant cranio-orbital or cranionasal anomalies in patients with orbital venous anomalies; these anomalies can vary from minor defects in the cranial base to large encephalomeningoceles. This rare association should not be overlooked when orbital varices become markedly inflamed, because intranasal encephaloceles are a known predisposition to recurrent meningitis.
A case of basal encephalocele protruding through a defect in the greater wing of the sphenoid bone is presented. The transalar type of encephalocele is uncommon and unclassified. This case, documented by computed tomography and magnetic resonance imaging, is unique in that it presented with trigeminal neuralgia and was associated with an angioma of the soft palate.
This report deals with a 7-wk-old infant with an unusual tamponade empyema of the ventricular system associated with an occipital encephalocele and Arnold-Chiari anomaly. The infection extended from the ruptured encephalocele to the ventricular system. Arnold-Chiari malformation locked the infection within the ventricular system through herniation and occlusion of the ventricular foramina and prevented from spreading into subarachnoid space. The long survival of the infant allowed for the formation of pyocephalus. There was also an extensive coarctation of the ventricular walls and aqueductal occlusion which probably resulted from the infectious process in the early postnatal life.
The fronto-orbitonasal malformations of encephaloceles, dermoid sinus cysts, and gliomas represent a continuum of neuroectodermal anomalies. The differentiation between them and other similar-appearing lesions is essential for effective management to proceed. Obtaining a reliable history, completing a careful physical examination, and obtaining accurate radiographic documentation represent the first steps. Establishing the timing, staging, and specific surgical techniques for management of a fronto-orbitonasal encephalocele remains as much an art as a science.
An unusual case of encephalocele causing obstruction of the upper airway in a neonate is described. The patient presented with a large mass in the neck, which extended from the base of the skull to the level of the larynx. Although there was no evidence of a defect of the skull base, subsequent excision and histological examination confirmed an encephalocele.
A retrospective review of 110 consecutive cases of chronic otitis media surgery was carried out in a large metropolitan public teaching hospital in the United States that serves the inner-city population. The purpose was to identify dural herniations and encephaloceles (DHE) as well as complications associated with these entities. Twenty-nine such patients (26.4%) were identified, 7 of which (6.4%) were encephaloceles. In patients with DHE, cholesteatoma was found in 83%, a labyrinthine fistula in 48%, preoperative facial paralysis in 14% (4 patients), facial nerve involvement by cholesteatoma in 24%, and suppurative intracranial complications in 21%. DHEs were repaired through the mastoid, via a mini-craniotomy or a formal middle cranial fossa approach. The incidence of DHEs in this patient population is very high, which reflects neglected chronic ear disease. The associated complications require extensive surgery for eradication, and the potential for morbidity and mortality is significant.
A 5-day-old neonate with a frontonasal encephalocele is reported. He was referred to our institute with a swelling on the glabella not associated with cerebrospinal fluid (CSF) leak. The baby was the first born of a non-consanguinous marriage. The baby had a swelling over the glabella, 7 cm in diameter. The swelling had healthy covering with a raw area at the centre without any CSF leak. A magnetic resonance imaging scan showed a soft tissue swelling containing tissue iso-intense to normal brain. The internal bony defect was at the junction of the frontal and ethmoid bones, in front of the crista galii, in the floor of the anterior cranial fossa. The baby was operated on the 11th day after birth. A one-stage repair of encephalocele was performed, along with correction of hypertelorism and reconstruction of the nasal bridge. The postoperative period was unremarkable. The baby was discharged from hospital on the 10th postoperative day.
A 19-year-old primigravida was found to have an encephalocele on screening ultrasound study. Amniocentesis indicated cri du chat syndrome, 5p-. Although cri du chat syndrome has been noted in association with central nervous system malformations, encephalocele is a rare finding in this syndrome.
Eleven patients (6 female, 5 male) with unilateral (6) or bilateral (5) (peri)orbital encephaloceles (nasofrontal in 4 cases, naso-orbital in 3, spheno-orbital in 4), were ophthalmologically examined. All had normal anterior segments, but ipsilateral or bilateral anomalies of the optic nerve head such as coloboma, pits, morning glory syndrome, dysplasia, tilted disk syndrome, hypoplasia, or a persistent hyaloid artery. In regard to the pathogenesis of (peri)orbital encephaloceles associated with optic disk malformations a common clefting defect in the neuroectodermal and neurocristal midline structures of the head is postulated, taking place in the fourth to sixth week of development.
Congenital encephaloceles are rare lesions which are often present at the occipital region. Occasionally, they are encountered anteriorly where they may erode through the base of the skull or through a congenital defect in it and appear as a nasal polyp. We describe a case of an anterior basal encephalocele which presented with hypertelorism and was mistaken for a nasal polyp.
A 54-year-old woman was referred with spontaneous cerebrospinal fluid (CSF) rhinorrhoea. CT cisternography revealed a defect in the lateral wall of the left sphenoid sinus, with an anteromedial temperosphenoidal encephalocele associated with contrast leakage into the sinus. Subsequent monitoring showed raised intracranial pressure. Transcranial intradural repair of the encephalocele followed by lumboperitoneal shunt for the high pressure abolished the leakage of cerebrospinal fluid.
This report describes a 6-year-old Mexican boy presenting with inter alia, hitherto unrepaired cervical encephalocele and associated unilateral syndactyly. There was also ipsilateral clinodactyly of the thumb and possible polydactyly of the foot. In addition, there was unilateral fusion of the first and second cervical vertebrae and a Chiari type III malformation. Motor and language skills were grossly normal for age, with the exception of mild left hemiparesis affecting the arm more than the leg. Medical history was significant for incidental drainage from the encephalocele as well as occasional high fevers and possible episodes of central nervous system infection. The clinical findings were not consistent with Meckel-Gruber or any other well-recognized syndrome. It is our contention that this case documents a previously unreported constellation of congenital anomalies and, as such, may suggest a teratological insult or a new syndrome. Surgical repair was carried out with meticulous excision of dysplastic neural tissue, relocation of neural tissue within the thecal sac, and coverage of the repair site with a trapezius muscle flap. Skin was closed directly. Postoperative recovery was largely uneventful, with the exception of a seroma in the donor muscle bed.
Encephaloceles are rare congenital defects in the skull, through which the meninges and brain tissue have herilated. We report a case of an 11-year-old boy with a spheno-orbital encephalocele that presented with pulsatile exophthalmos. A two-stage operation resulted in a good outcome.
This study reports a patient affected by congenital frontoethmoidal encephalocele. The cause of this malformation is unknown. A preoperative selective diagnosis evaluation is necessary. The workup should include an accurate clinical examination associated with radiological study (two- and three-dimensional computed tomography, magnetic resonance imaging, etc). The aim of the surgical treatment is to restore the functional brain tissue in the cranial cavity, perform dural repair, correct bone lack and other associated facial malformations (hypertelorism, orbital dystopia, etc.). A multidisciplinary team approach is necessary to resolve the brain herniation and to correct splanchnocranium malformations frequently associated with encephalocele. Cranial flap with orbital osteotomies has been performed; this operation permits correction of the hypertelorism and of the orbital dystopia associated with this malformation. In bone reconstructions, miniplates have been used as fixation devices. In adults we generally use titanium, but resorbable devices are required in children because of growing tissues. A restoration of craniofacial malformations with good aesthetic and functional results is achieved with early surgery.
Computed tomography (CT) is an accurate diagnostic modality in the evaluation of encephaloceles. The axial and coronal planes, contrast enhancement attenuation measurement of the contents of the encephalocele, and the use of the standard and reverse modes for viewing the CT images are all valuable in this evaluation.
Congenital arteriovenous malformation (AVM) of the scalp is a rare lesion, which usually is easily diagnosed. A case of a newborn infant with a midline occipital soft tissue mass that clinically simulated an encephalocele is reported. Postcontrast CT was useful in ruling out encephalocele and suggesting the diagnosis of AVM.