Prenatal MRI plays an essential role in the evaluation of the head and neck. This article overviews technical considerations and both isolated and syndromic anomalies of the fetal calvarium, globes and orbits, ears, maxilla, mandible, and neck.

The skull base (SB) is the osseous foundation of the cranial vault. It contains many openings that allow communication between the extracranial and intracranial structures. This communication is crucial in normal physiologic processes yet may also arrow spread of disease. This article provides a comprehensive review of SB anatomy including important landmarks and anatomic variants relevant to SB surgery. We also illustrate the diverse pathologies affecting the SB.

The combination of Dandy-Walker malformation and occipital cephalocele is a rare autosomal dominant condition, known as ADDWOC, and caused by mutations in NID1 or LAMC1. We present a three-generation family with variable manifestations of Dandy-Walker malformation and occipital cephalocele. They all have normal psychomotor development and lack neurological manifestations. Mutation analysis revealed a likely pathogenic missense variant in NID1 (c.3336T > G, p.Asn1112Lys), affecting an amino acid residue crucial in the nidogen/laminin interaction.

BACKGROUND: Encephaloceles are neural tube defects characterized by herniation of meninges, neural tissue and cerebrospinal fluid, while atretic cephaloceles denote a rudimentary connection to the intracranial space with absence of herniated neural tissue and represent an infrequent dermatopathologic diagnosis. Limited reports of these entities confound the challenge in their histopathologic distinction. Accurate classification is important given associated anomalies and neurologic manifestations that impact prognosis.
METHODS: We describe the clinicopathological and immunohistochemical [glial fibrillary acidic protein (GFAP), S100, epithelial membrane antigen (EMA), and somatostatin receptor subtype 2A (SSTR2A)] features in a retrospective series encountered at a single institution between 1994 and 2020.
RESULTS: We identified 13 cases classified as atretic cephalocele (n = 11) and encephalocele (n = 2). Hamartomatous changes and multinucleated cells were unique to atretic cephaloceles while myxoid areas were unique to encephaloceles. At least focal staining for SSTRA was seen in all atretic cephaloceles with the majority (87.5%) staining for EMA; negative staining for GFAP and S100 confirmed absence of neural tissue. Encephaloceles were GFAP and S100 positive, and negative for SSTR2 and EMA. Atretic cephaloceles had a favorable prognosis compared to encephaloceles, with severe morbidity present in both encephalocele cases.
CONCLUSIONS: Our study raises awareness of atretic cephalocele and encephalocele among dermatopathologists and reveals a mutually exclusive immunophenotype that facilitates their distinction for prognostication and management.

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.