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At least 775 records · Page 43Linked to original sources
PubMed1999

An unusual case of cephalocele associated with lipoma of corpus callosum.

Cephalocele is a part of the family of neural tube defects. Although the frequency has ranged from 1 per 2,400 to 1 per 12,500 live births, the true incidence has been hidden in stillborns, underreferral of massive defects and early pregnancy losses. It has been suggested that the size, the content of the sac and associated hydrocephalus were unfavorable factors for the prognosis. Cephaloceles may occur as isolated malformations or together with other anomalies, and associated abnormalities are present in up to 50% of the cases. We report an unusual case of encephalocele associated with lipoma of corpus callosum, and the features of magnetic resonance imaging are discussed.

Brain Neoplasms↗
PubMedDate not supplied

Nasal chondromesenchymal hamartoma of infancy clinically mimicking meningoencephalocele.

We report a typical case of nasal chondromesenchymal hamartoma (NCMH) of infancy, which extended to the orbit and intracranium through the skull base. The nasal mass was incidentally found in a 5-month-old otherwise healthy boy who had recently developed ptosis of the left eye. On neuroimaging, there were defects in the left ethmoid bone of the anterior cranial fossa and medial orbital wall. A round heterogeneous mass was found in the left nasal cavity. Solid portions were strongly enhanced. The preoperative diagnosis was nasal glioma or encephalocele. After frontal craniotomy, the mass was separated from the cranial basal dura. Through the transnasal approach, the mass was dissected from the left orbital content and removed. NCMH is a rare benign lesion and histopathological analogue of the mesenchymal hamartoma of the chest wall, having unique pathology: islands of hyaline cartilage, somewhat calcified or ossified hyalinized collagenous trabeculae and abundant myxoid stroma. Its occurrence in the nasal cavity was identified in 1998. The recognition of this entity is necessary to avoid misdiagnosis of the frozen section and for appropriate surgery.

Chondroma↗
PubMed2007

Prenatal sonographic diagnosis of a rare Cantrell's pentalogy variant with associated open neural tube defect - a case report.

Cantrell's pentalogy is a very rare congenital anomaly. The hallmark of this condition is the presence of ectopia cordis and an abdominal wall defect. Its association with craniorachischisis is even more infrequent with just a few cases reported in the literature. The authors describe a case of a prenatal ultrasound diagnosis of Cantrell's pentalogy with posterior encephalocele and spinal dysraphism associated.

Abdominal Wall↗
PubMed1979

Klippel-Feil syndrome, iniencephalus, anencephalus, hindbrain hernia and mirror movements: overdistention of the neural tube.

Bony anomalies encountered in the 'no neck' form of Klippel-Feil syndrome (KFS) are a wide, short, fused, bifid, retroflexed spinal canal; craniolacunia, cranium bifidum, and acrania. The only symptom may be mirror movement (MM). The CNS anomalies are hindbrain hernia, hydrocephalus, hydromyelia, syringomyelia, meningocele, myelocele, encephalocele, and anencephalus. In severe KFS, i.e. iniencephalus (IN) and in anencephalus (AN), the inion is in contact with the back. In both there is hindbrain hernia and the left thorax may contain the stomach tethered to an anterior spina bifida. KFS results from distortion of somites by an overdistended neural tube. A neural tube that fails to close cannot overdistend.

Adolescent↗
PubMed1979

Peculiar congenital parieto-occipital head tumor: report of 3 cases.

3 infantile cases of congenital parieto-occipital midline soft tumor, the clinical and pathological findings of which did not correspond precisely to a known congenital head tumor, are reported. One of them probably belongs to McLaurin's type of encephalocele with heterotopic glial rest, and the remaining two to McLaurin's type of meningocele without central connection. The types of anomaly shown by the present cases should generally be called 'atretic cephalocele' or 'rudimentary cephalocele'.

Brain Neoplasms↗
PubMed1994

Selected indications for and applications of magnetic resonance angiography in children.

The purpose of this study was to investigate the efficacy and practicality of magnetic resonance angiography (MRA) in evaluating pediatric cerebrovascular disorders. A retrospective evaluation was performed of MR angiograms in 20 pediatric patients with cerebrovascular pathology. When appropriate, comparisons were made with duplex ultrasonography or conventional catheter angiography. MRA accurately assessed the patency of carotid reanastomoses in 8 babies who had previously undergone extracorporeal membrane oxygenation (ECMO). In 6 patients with moyamoya syndrome, MRA accurately evaluated stenotic intracranial carotid and circle of Willis arteries and progressive enlargement of the superficial temporal and middle cerebral arteries after revascularization procedures, and thus obviated the need for sequential angiograms. Thrombi and emboli were identified in 4 of 5 patients with symptoms and imaging evidence of an acute stroke. Two-dimensional time-of-flight MR venograms, acquired in both axial and coronal planes, were useful for preoperative venous mapping in a patient with an occipital encephalocele and detecting venoocclusive disease. MRA provided diagnostically useful information in a spectrum of pediatric cerebrovascular disorders. It can be used as the initial vascular imaging modality for patients with imaging evidence of acute cerebrovascular event, to evaluate progression of chronic vasoocclusive disease, to evaluate vessel patency following intracranial revascularization surgery, and for visualization of the venous circulation.

Adolescent↗
PubMed1995

Neurosurgical considerations on the anatomy of the medial canthus in children.

Craniofacial surgery and anterior skull base surgical techniques require an intimate knowledge of periorbital structures. The medial orbital anatomy is especially important for midline approaches to nasion encephalocele, midline trauma, surgery for hypertelorism as well as midline approaches to anterior skull base lesions. The medial canthal tendon is of primary importance in anchoring the eyelid medially in a cosmetic and functional fashion. This review will summarize the anatomic features of the medial canthus and its surrounding structures, including vascular and muscular components. The intimate relationship of the three components of the medial canthal tendon to the nasal lacrimal apparatus is emphasized. Techniques to prevent injury as well as to repair abnormalities in this area will be discussed.

Child↗
PubMed1996

Differential diagnosis of scalp trichilemmal cyst on MRI.

The characteristic MRI of scalp trichilemmal cysts is reported. The feature of an iso-intense area on T1-weighted images is unique to trichilemmal cysts. MRI is helpful in diagnosing the trichilemmal cyst and useful in distinguishing cystic tumors on the median scalp from a cranial malformation, meningo- or encephalocele.

Adult↗
PubMed1988

Lower limb movements and urologic function in fetuses with neural tube and other central nervous system defects.

Lower limb movements and urologic systems were evaluated by prenatal ultrasound in 120 fetuses with either neural tube defects or intracranial anomalies. Despite anticipated major lower extremity and bladder dysfunction, lower limb movements were seen in 100% of the fetuses with anencephaly and encephaloceles, 93% with isolated spina bifida, 60% with complex spina bifida and 90% with abnormal intracranial findings. In all the cases except those with cloacal exstrophy, fetal bladder and collecting systems appeared normal. Therefore, fetal lower limb movements and urinary tract integrity appear to have no diagnostic or prognostic value in fetuses with neural tube defects or other central nervous system anomalies. These diagnoses can only be made by direct ultrasound observation of the lesion itself.

Anencephaly↗
PubMed2005

Combined endoscopic transmaxillary-transnasal approach to the pterygoid region, lateral sphenoid sinus, and retrobulbar orbit.

OBJECTIVES: The sublabial transmaxillary approach to the pterygoid region was a popular one during the Caldwell-Luc, pre-endoscopic era. It was the procedure of choice for management of lesions of the pterygopalatine space, for internal maxillary artery ligation, and for vidian neurectomy. With the introduction of endoscopic instrumentation and techniques, the Caldwell-Luc procedure is rarely performed today. Also, because vidian neurectomy is performed less frequently, and because internal maxillary artery ligation for severe epistaxis has been replaced with transnasal endoscopic sphenopalatine artery ligation, the sublabial transmaxillary route is rarely used. We have found that combining the use of endoscopes via the sublabial approach and the transnasal endoscopic approach is very helpful for management of extreme lateral lesions of the sphenoid sinus, as well as the pterygoid region and the posterior orbit. METHODS: The records of patients who underwent a combined endoscopic transmaxillary-transnasal approach between 1994 and 2002 were reviewed. Indications for the procedure included extreme lateral sphenoid and pterygoid encephalocele (3 patients), pterygoid mucocele (2 patients), orbital apex lesion (2 patients), and pterygopalatine tumor (2 patients). RESULTS: Nine patients underwent the above-mentioned procedure. Wide and comfortable exposure of the involved region was achieved in all cases. Compared with the transnasal approach, the working distance, working comfort, and maneuverability of instruments were significantly enhanced. There were no major complications related to the approach. Because the maxillary wall opening is very small, infraorbital hypoesthesia is very limited and of short duration. CONCLUSIONS: Combining the transmaxillary and transnasal approaches for endoscopic management of pterygoid, lateral sphenoid, and retrobulbar orbit lesions provides excellent exposure and avoids the limited working angle and surgical struggle that may be associated with the use of the transnasal approach alone.

Adenoma, Pleomorphic↗
PubMed1990

Three-dimensional x-ray computed tomography of the temporal bone as an aid to surgical planning.

Three-dimensional x-ray computed tomography (3DCT) has been useful in planning surgical procedures involving craniofacial reconstruction, the pelvis, hip, spine, knee and shoulder. The clinical use of 3DCT in temporal bone surgery has not been evaluated. We used 3DCT to assess temporal bone anatomy in 9 patients. These cases evaluated two encephaloceles, two postinflammatory dehiscences, two temporal bone fractures, one glomus jugulare tumor, one acoustic neuroma, and one meningioma. We found 3DCT useful in these temporal bone applications as a supplement to standard two-dimensional CT scanning (2DCT). While 3DCT provided a better preoperative understanding of the underlying anatomy, no treatment was modified solely on the basis of the information derived from the 3-D presentation of data. We conclude that, although 3DCT images have some qualitative advantages over 2DCT techniques, their value in further defining temporal bone morphology must be evaluated against the cost entailed by their use.

Adult↗
PubMed1993

Nasopharyngeal gliomas: diagnostic and treatment considerations.

Nasopharyngeal masses in newborns may produce life-threatening airway obstruction. Distinction between encephaloceles and gliomas is important for surgical planning, but cannot always be accurately assessed on the basis of high-resolution computed tomography or magnetic resonance imaging. Preoperative or intraoperative nuclide imaging or contrast injection studies may assist with selection of appropriate surgical approach.

Choristoma↗
PubMed2025

Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign.

Fetal pleural effusions can arise in various contexts with different prognosis. They have been reported in fetuses presenting with hereditary or acquired conditions. One particularly rare genetic disorder, known as Knobloch syndrome, seems to emerge as a potential new cause of fetal pleural effusions, associated with severe outcomes. Knobloch syndrome 1 can be caused by biallelic variants in COL18A1. It is primarily characterized by its ophthalmic features, including severe vitreoretinal degeneration with retinal detachment and macular abnormalities. Neurological defects such as encephalocele and developmental delay, along with skeletal and renal malformations, are also associated with the syndrome. The Knobloch syndrome 2 is caused by monoallelic variants in the kinase domain of PAK2. It is less described and seems to also be associated with cardiac and respiratory damage in addition to the Knobloch syndrome 1 phenotype. PAK2 is a ubiquitous protein with a major implication in regulation and remodeling of the cytoskeleton and numerous other cellular pathways. Knobloch-associated variants seem to cause a loss of the kinase function of the protein. Even if the ophthalmic defects are almost constant, PAK2-associated Knobloch syndrome has slightly different features from Knobloch syndrome 1 in which pulmonary and lymphatic damages are still unseen. In a prenatal trio exome sequencing, we identified a novel de novo PAK2 missense variant, NM_002577.4:c.836 A > C, p.(Gln279Pro), classified as likely pathogenic in a 24 weeks of gestation fetus whose only sign was severe bilateral pleural effusion. From a literature review of patients, we recognize this sign as an important antenatal indicator of Knobloch syndrome 2, as it was the first sign identifiable in 2 out of 5 patients. This adds new evidence for the implication of this gene in fetal pleural effusions, with potentially severe outcomes.

Female↗
PubMed1989

The small midline occipital encephalomeningocele: definition of a syndrome.

An unusual group of encephalomeningoceles is described. Two children were noted at birth to have a raised area of abnormal skin at the occipital midline. Both of these lesions were found to perforate the superior sagittal sinus and to end between the leaves of the falx cerebri, and to contain a small amount of abnormal cerebral tissue with no connection to either occipital lobe. Previous case reports are reviewed; these lesions are true encephalomeningoceles, rather than glial heterotopias. The embryology of such lesions is considered, and likely differs from the much more common occipital encephalocele arising from one or both occipital lobes.

Brain Diseases↗
PubMed1993

Reconstruction of skull defects in children and adolescents by the use of fixed cranial bone grafts: long-term results.

This article presents the long-term results of skull defect reconstruction in a series of 27 children studied between 1986 and 1990 (mean age, 8.4 yr; range, 1-17 yr). Causes of their defects were encephalocele (six patients), trauma (seven patients), tumor (eight patients), fibrous dysplasia (two patients), postsynostectomy defects (two patients), osteomyelitis (one patient), and Reye's syndrome with bone flap loss (one patient). All patients underwent clinical and computed tomographic scan documentation of their skull defects before and immediately after surgery and at least 1 year later. The average preoperative defect surface area measured 33 cm2 (range, 2.5-114 cm2). Skull defects were reconstructed in all patients with fixed autogenous cranial bone grafts. In the initial five patients, the grafts were fixed with interosseous wires, and in the remainder, they were fixed with a combination of miniplates and microplates and screws. Follow-up ranged from 12 to 66 months (mean, 31.4 mo). Complications were minimal, with no infection, plate or graft exposure, or intracranial injuries. In 24 of 27 patients, clinical examination and computed tomographic scans showed no evidence of skull defect or appreciable irregularity of donor or recipient sites. Two patients had documented small regions of graft resorption. One skull had palpable contour irregularities but without a bony defect. All patients have resumed routine activities and sports without special head protection. Repair of skull defects in children with fixed autogenous cranial grafts is a reliable method of reconstruction with minimal morbidity. Although we prefer miniplates and microplates and screws for fixation, the grafts fixed in place with interosseous wires did equally well.

Adolescent↗
PubMed2000

Bilateral defects of the tegmen tympani associated with brain and dural prolapse in a patient with pulsatile tinnitus.

A pulsating ear drum is a rare otological finding and usually indicates a vascular pathology. We report the case of a woman who presented with pulsatile tinnitus following an upper respiratory tract infection. She was found to have bilateral pulsating tympanic membranes on otological examination, in association with bilateral dehiscence of the tegmen tympani and a spontaneous encephalocele on the right side and a meningocele on the left side, demonstrated on computerized tomography (CT) scan of her temporal bones.

Encephalocele↗
PubMed1987

Cephaloceles.

The meningoceles and encephaloceles of the calvaria and base of the skull are reviewed with regard to origin and local behavior. An additional variant is added to the subgroup of nasopharyngeal cephaloceles, the basioccipital nasopharyngeal cephalocele, which only recently has become recognized. The clinical importance, techniques for its identification, and surgical management are discussed with the aid of a case report.

Encephalocele↗