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A 3-year-old boy underwent skull reconstruction in order to reduce a parietal encephalocele. The reduction of the encephalocele was accomplished fully and safely while simultaneously correcting a concomitant turriscaphocephaly skull-shape irregularity. A combination of the modified prone position and cranial reconstruction using barrel stave expansion of the basal vault was employed.
A basal encephalocele is a rare congenital malformation involving a cranial bone defect and cystic-like herniation through the defect. Moyamoya is a rare cerebrovascular disease of unclear etiology involving occlusion of the distal internal carotids and formation of collateral vascular networks. Both diseases have been correlated with optic disc anomalies, hypopituitarism, and midfacial defects. We present a case of a 2-year-old boy with a midline facial cleft who underwent surgical correction of a basal encephalocele. His moyamoya disease may have contributed to a vascular complication. There is growing evidence indicating an overlap in disease profiles for these two rare diseases. In addition, molecular evidence indicates elevated levels of fibroblast growth factor and transforming growth factor in both diseases, suggesting common molecular pathways.
Meckel syndrome, which is diagnosed by 2 of 3 main congenital malformations such as a occipital encephalocele, polycystic kidneys, and polydactyly, is an autosomally inherited recessive disease. We have experienced a case of Meckel syndrome and performed necropsy. Necropsy findings revealed multiple congenital malformations with occipital meningo-encephalocele and agenesis of the cerebellum, 6 digits on the hands and feet, polycystic kidneys. The criteria of Meckel syndrome is still unclear. We propose that the diagnosis of this syndrome may be accompanied by the presence of all triad of main malformations. Ninety four cases satisfying this criteria have been reported in the world literature. Several discussion were made from a review of the literature.
Two new cases are reported of a rare syndrome of malformation consisting of occiptal encephalocele, aplasia of the vermis and deformity of the tectum. Less consistent components are aplasia of mammillary bodies, fusion of thalami, anomalies of cerebral gyral patterns, bifid atlas or bifid occipital squame, elevation of torcular, and cervical hydromyelia. One of the present cases had survived to the age of eight years with a ventricular shunt. This syndrome, of which five cases are known, is thought to be a tandem malformation in which either an occipital dysraphia or an encephalocele induces aplasia of the vermis. A classification of aplasias of the cerebellar vermis is proposed.
In four patients with bacterial meningitis a primary intranasal encephalocele was found as portal of entry. In two of the cases the malformation had been misdiagnosed as a nasal polyp and operated upon. In two patients a cerebrospinal fluid fistula developed spontaneously at the age of 54 years. None of the patients had associated symptoms indicating the presence of a cleft. Encephaloceles can be readily visualized by computed tomography particularly in coronal sections. The treatment of choice is transcranial surgical repair.
Encephaloceles of the basal anterior fossa, though primarily congenital in origin, may be insidious in presentation and remain undetected until adulthood. Conventional plain films and hypocycloidal tomograms show a basal osseous defect with its margins bevelled toward the nasopharynx. Magnification angiography is the diagnostic study of choice and reveals herniation of the anterior inferior frontal artery through the osseous defect. Pneumoencephalography, the classical technique of investigation, was found to be unrewarding in demonstrating the herniated sac or in determining the presence or absence of brain tissue within the sac; however, it is of value in demonstrating a ventricular communication with the encephalocele and evaluating ventricular dilatation.
We report a case of an encephalocele in a dizygotic twin pregnancy, following ovulatory induction. In the involved fetus, an abnormal shadow like an encapsulated-solid tumor located on the occiput was found by routine maternal transabdominal ultrasonography at 17 weeks of gestation. The parents did not accept induced abortion because of the presence of another fetus with no abnormality on ultrasonography. At 35 weeks of gestation, transabdominal ultrasound examination showed a large occipital cyst, composed of protrusive fetal brain and cerebrospinal fluid. Fast-scanning magnetic resonance imaging delineated more clearly the inside of the abnormal lesion and thus allowed confirmation of the putative diagnosis of fetal encephalocele during pregnancy. Surgical report was possible in this case, and the patient had no severe physical or neurological abnormalities 10 months after birth. Since the prognosis appears to depend primarily on how prominent the brain tissue is inside the herniated sac, this approach had benefit for clinical decision making.
A prospective clinical study of 30 patients with frontoethmoidal encephaloceles was performed in order to find support for a proposed theory concerning its pathogenesis, based on a previously performed embryological study and relevant findings in the literature. According to this proposed theory the pathogenesis of frontoethmoidal encephaloceles is primarily based on a disturbance in separation of neural and surface ectoderm at the site of final closure of the rostral neuropore during the final phase of neurulation in the 4th week of gestation. An insufficient occurrence of apoptosis might cause this disturbance in separation. The nonseparation of neural and surface ectoderm will result secondarily in a midline mesodermal defect. This mesodermal defect is reflected in the median skull defect at the site of the foramen caecum. The outgrowth of the nasal septum with the concomitant forward displacement of epidermis (surface ectoderm) and attached brain tissue (neural ectoderm) may act as herniating force. The patient study consisted of a clinical investigation, radiological investigations (X skull and CT scans), and surgical treatment in order to obtain specimens which were examined histologically. Clinical findings supportive of the proposed hypothesis are (1) the consistency in the location of the internal skull defect, (2) the close relationship between epidermal structures and glial tissue in 15 out of 29 specimens, and (3) the presence of a normally developed nose in combination with interorbital hypertelorism in all patients. A discussion of these findings is presented with special reference to the embryological aspects.
Three patients with medically refractory partial complex seizures were shown to have small and initially unsuspected encephaloceles of the middle fossa. All had bitemporal, independent, interictal epileptogenic abnormalities, and the side of origin of the seizures could not be determined by surface EEG alone. The encephaloceles were missed on the initial radiologic studies and were found retrospectively in two patients; the third was found at operation and was not demonstrable radiologically, even in retrospect. One was the sequel of remote mastoid surgery, another was neoplasm-related, and the third, developmental. In all, bony defects of the middle cranial fossa were associated with temporal lobe herniation. The patients were treated surgically and have had no further partial complex seizures since operation.
The authors propose a new operative technique for the intracranial transposition of an encephalocele by using the associated hydrocephalic state. In the first stage, the intracranial pressure buffering effect of the encephalocele sac is reduced by the closing of the dural defect. The repaired dural defect allows intraventricular pulse pressure to produce ventriculomegaly. In the second stage or in infants with hydrocephalus, the extracranially herniated brain is transposed into the intracranial cavity during ventricular shunting with appropriate drainage of cerebrospinal fluid.
OBJECTIVE: This article documents the characteristics and treatment of an infant patient with a sphenoethmoidal encephalocele. An extracranial, transpalatal approach was used to eliminate the encephalocele.
Eighteen cases of anterior encephalocele treated at the University of Malaya Hospital between 1970 and 1980 are discussed, and the literature concerning this defect is reviewed. A detailed analysis of the microscopic abnormalities present in the surgical specimens is included, along with the relevant radiographic and demographic data. Anterior encephalocele is more common in Southeast Asia than elsewhere. The possible ethnographic and geographic implications are presented, as well as a discussion of the relevant embryology, in attempting to define possible etiologies for this malformation. The author's surgical approach to the repair of this defect and reasons for preferring a transcranial, intradural approach are described. Potential complications are enumerated.
OBJECT: Occipital encephaloceles are relatively frequently encountered. Many investigators have addressed the embryogenesis of these formations, but the dural system has never before been studied. In this retrospective analysis the authors sought to gain a better understanding of the origins of these defects. METHODS: The charts and radiological examinations, especially the magnetic resonance venography studies, were reviewed in seven patients. In six patients the straight sinus was absent. Drainage of the galenic system took place through a sinus within the falx, also known as a falcine sinus. The tentorium was not seen in five patients. CONCLUSIONS: The combination of an absent straight sinus and dysplastic tentorium is no coincidence: both develop within the same mesenchyme in the mesencephalic flexure. Distortion of the mesenchyme by a neural tube defect, causing an occipital encephalocele, will lead not only to disorders of the tentorium but also of the straight sinus.
The authors present the case of a 2-year-old boy who was born with a small bulging mass in the middle frontonasal area and hypertelorism. In the neonatal period he suffered from a continuous lacrimal secretion mistaken for recurrent conjunctivitis. Cranial computerized tomography scanning and magnetic resonance imaging revealed a frontoethmoidal encephalocele associated with an ocular leakage of cerebrospinal fluid. One-stage repair of the encephalocele, along with correction of hypertelorism and bone grafting of the forehead, was performed with good result. During a 2-year follow-up period no neurological deficits appeared.
We documented hypothalamic-pituitary dysfunction in three patients with congenital herniation of the brain through the base of the skull (basal encephalocele). All had growth hormone deficiency, although one has attained normal height. One had diabetes insipidus. Two had hypogonadotropic hypogonadism. Prolactin secretion was elevated in one, normal in another, and borderline low in the third. Two patients were euthyroid, but in response to thyrotropin-releasing hormone (TRH) injection, one patient's thyrotropin (TSH) level increased to levels exceeding normal while the other's did not attain normal levels. In the third patient, TSH response to TRH went from subnormal to normal after treatment with growth hormone and thyroxine. No patient had evidence of ACTH deficiency. These heterogeneous findings do not permit assignment of an unequivocal anatomic or functional site to the endocrine defect(s). Pituitary function should be evaluated in all patients with basal encephalocele, and this entity should be considered in the differential diagnosis of central endocrine malfunction.
Most extracranial masses detected prenatally by use of ultrasonography are either encephaloceles or meningoceles. This article describes an extracranial mass detected prenatally that was initially thought to be an encephalocele, but was subsequently found to be a large hemangioma.
Intrasphenoidal encephalocele is a rare clinical entity. In the international literature only 16 cases have been reported up today, with female predominance. Clinically they manifest at middle and advanced ages (40-67 years), when spontaneous CSF rhinorrhoea or recurrent meningitis occurs. We present our case, a 46 years old female, who had CSF rhinorrhoea from the right vestibule for 10 months. The diagnosis was based on the history and the high-resolution brain and skull base CT-scanning in conjunction with opaque fluid injection in the subarachnoidal space through a lumbar puncture. She was successfully treated with an operation, through an endonasal trans-ethmoid microendoscopic approach, using the Draf and Stammberger technique. We discuss the pathogenesis of the intrasphenoidal encephalocele, the existence of small occult defects in the skull base, which cause, at the middle and advanced ages, CSF fistula with spontaneous CSF rhinorrhoea and/or recurrent meningitis. Finally we emphasize the advantages of the endonasal surgical approach for the treatment of this condition.
We report the incidence of epilepsy in 7 patients with occipital encephalocele (meningocele: 6 cases, meningoencephalocystocele: 1 case). Two cases had epilepsy and a case without the history of epileptic seizure had an epileptic pattern on the EEG. All these 3 cases had cortical dysplasia(CD) such as schizencephaly and subcortical gray matter, and two of them were associated with mental retardation. The location of the prominent CD was correlated with the EEG abnormalities and clinical epileptic pattern in each case. Associated hydrocephalus and placement of VP shunt had no significant influence on the occurrence of the epilepsy. Thus, complicated CD is thought to be epileptogenic in patients with occipital encephalocele.