暂无摘要。

A wide range of craniofacial malformations can be diagnosed in utero using ultrasonography. However, even with highly experienced sonographers and diagnostic physicians and optimal conditions of examination, some anatomical structures cannot be properly analyzed by this technique. The aim of this pictorial essay is to show the additional value of fetal magnetic resonance imaging and computed tomography in this setting and to illustrate the role of these modalities in facial clefts; craniosynostosis; ear, eye and nose abnormalities; otomandibular dysplasias; and facial cephaloceles.

UNASSIGNED: Petrous apex cephaloceles are characterized by herniation of Meckel\'s cave into the petrous apex. An extensive review of the literature reveals 20 cases of bilateral petrous apex cephaloceles. This article reports an additional case of bilateral petrous apex cephaloceles and reviews the pertinent literature.
METHODS: A 64-year-old female was referred from a primary care clinic due to longstanding headache. A non-enhanced CT scan of the brain revealed osteolytic bony lesions at the petrous apices and an empty sella. A brain MRI with contrast showed CSF-containing lesions in the petrous apices, communicating with Meckel\'s cave bilaterally. The patient was managed conservatively and is currently followed up in the neurosurgery clinic.
CONCLUSIONS: While the exact etiology remains uncertain, petrous apex cephaloceles are postulated to originate from sustained, chronic elevation of intracranial pressure. On MRI, petrous apex cephaloceles display signal intensities resembling CSF throughout all sequences. They demonstrate well-defined margins continuous with Meckel\'s cave. CT scans allow further characterization, i.e. invasive erosions, of the osseous structures in patients with petrous apex cephaloceles.
CONCLUSIONS: A thorough understanding of the petrous apex anatomy and its pathological lesions is paramount. A brain MRI remains the diagnostic imaging of choice to characterize petrous apex cephaloceles.

Dysraphism refers to neural tube closure abnormalities and midline closure abnormalities of the skin, paravertebral muscles, vertebrae and meninges. Cranial dysraphism (CD) and occult spinal dysraphism (OSD) may be discovered via evocative skin signs present at birth or appearing later in childhood or even in adulthood. This review describes the various types of skin signs associated with CD and OSD. All congenital midline skin lesions, particularly on the frontonasal area, the vertex or the occipitocervical and low back regions, should prompt suspicion of underlying dysraphism. The main evocative midline skin abnormalities are: (i) for underlying DCEO: a nodule, swelling, skin openings and hair collar sign or hair tuft; (ii) for underlying DSO, localized hypertrichosis, an atypical or complex lower back dimple, a dermoid fistula, infantile haemangioma, caudal appendage and lipoma. In the event of suspected DCEO or DSO, spinal or medullary MRI constitutes the reference examination.

A 13-year-old male child was evaluated for headache and visual deterioration; he underwent routine MRI imaging which revealed a large craniopharyngeal canal, divided by an abnormal bony septum giving a bipartite appearance of the canal, with a lipoma and cephalocele on either side of the septum. The child had undergone a previous surgery for cleft palate repair at the age of 7. The child had normal pituitary function inspite of nonvisualization of pituitary gland in MRI. To best our knowledge, this is the first case with such a variation. We have also discussed the possible embryological hypothesis for this previously unreported entity. Knowledge about this rare variant might have surgical relevance in selected cases.

BACKGROUND: Neural tube defects (spina bifidas or cephaloceles) are congenital malformations that can be associated with hydrocephalus. Even if the surgical management of each of these pathologies separately is well established, this is not the case for a combination of these conditions.
OBJECTIVE: To report our results of simultaneous or separate surgery for the association of hydrocephalus with neural tube defect in the same patient.
METHODS: This was a retrospective study of the association of hydrocephalus with neural tube defect (spina bifida or cephalocele) managed over a period of 7 years at the Department of Neurosurgery, Yalgado Ouedraogo University Hospital, Ouagadougou, Burkina Faso.
RESULTS: Thirty-eight cases were included. The mean age was 8.1 months, and the sex ratio was 0.81. There were 27 cases of spina bifida and 11 cases of cephalocele associated with hydrocephalus. A cerebral CT scan was performed in all patients. In 30 cases, the operative management of these pathologies was performed at the same operative time. Eight cases were operated in 2 separate operative stages with a mean time of 30 days between the 2 operations. The course was favorable in 22 patients operated by the simultaneous approach and in 3 patients operated by the separate approach (p = 0.07).
CONCLUSIONS: Surgical management of the association of hydrocephalus with neural tube defect in 1 or 2 operative stages gave similar clinical results. However, the treatment in 1 surgical stage would considerably reduce the charges.

暂无摘要。

To scrutinize the characteristics of all cases with antenatally established diagnosis of cephalocele in two tertiary referral centers.
We retrospectively reviewed 65 cases diagnosed with cephaloceles and tabulated sonographic findings and autopsy recordings as well as medical charts of all survivors in terms of clinical outcome.
The case notes of 65 fetuses were available for final analysis. Gestational age (GA) at diagnosis ranged from 10.4 to 38.1 weeks. Of our cohort, 53/65 cases (80%) had occipital protrusions, 10 (15%) were found to have frontal lesions, and another two had parietal cephaloceles. A total of 52 pregnancies were terminated or resulted in intrauterine fetal demise (78%). In 18 cases (11%), the cephalocele was part of underlying syndromic disorders (e.g., Meckel-Gruber syndrome). Thirteen pregnancies were continued until term, out of which all affected individuals were live-born. Neurosurgical intervention was prompted within the first 7 months postnatally.
In general, the outcome of fetuses with cephaloceles is rather poor as four out of five pregnancies were terminated. Postnatal outcome of all survivors in our cohort was rather determined by localization of the cele and more important by the presence and severity of concomitant malformations than the extent of the lesion.

BACKGROUND: Hair collar sign (HCS) and hair tuft of the scalp (HTS) are cutaneous signs of an underlying neuroectodermal defect, but most available data are based on case reports.
OBJECTIVE: We sought to define the clinical spectrum of HCS and HTS, clarify the risk for underlying neurovascular anomalies, and provide imaging recommendations.
METHODS: A 10-year multicenter retrospective and prospective analysis of clinical, radiologic, and histopathologic features of HCS and HTS in pediatric patients was performed.
RESULTS: Of the 78 patients included in the study, 56 underwent cranial and brain imaging. Twenty-three of the 56 patients (41%) had abnormal findings, including the following: (1) cranial/bone defect (30.4%), with direct communication with the central nervous system in 28.6%; (2) venous malformations (25%); or (3) central nervous system abnormalities (12.5%). Meningeal heterotopia in 34.6% (9/26) was the most common neuroectodermal association. Sinus pericranii, paraganglioma, and combined nevus were also identified.
CONCLUSIONS: The partial retrospective design and predominant recruitment from the dermatology department are limitations of this study.
CONCLUSIONS: Infants with HCS or HTS are at high risk for underlying neurovascular anomalies. Magnetic resonance imaging scans should be performed in order to refer the infant to the appropriate specialist for management.

Meningohydroencephalocele is a herniation of meninges, cerebrospinal fluid, brain parenchyma and a part of the ventricular system through a bony defect in the skull. This bone defect may be congenital, spontaneous or traumatic in origin. The lesions are mostly congenital, discovered generally after birth or in very young infants. We report the first historical case of the entity in this location in a 29-year-old man and discuss the pathogenesis, surgical management and social considerations of this type of neural tube defect in our country.