Endoscopic Endonasal Repair of Congenital Defects of the Anterior Skull Base: Developmental Considerations and Surgical Outcomes

Gump, William

doi:10.1055/s-0035-1546664

Cited by 9 publications

(2 citation statements)

References 5 publications

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“…Congenital anterior meningoencephaloceles (MECs) are rare in Western countries (1:35 000 live births). The majority of cases are not attributable to a classical NTD but rather represent a herniation through a defect or focal structural instability of the skull base [25]. The site of the larger intrapharyngeal MEC in case 2 represented fused and at the bottom cleaved pituitary fossae between duplicated sphenoid bones, and pituitary fossae fusion was facilitated by frontal angling of the medial sphenoid wings (Fig.…”

Section: Discussionmentioning

confidence: 99%

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

Rehder

Kircher

Schoner

et al. 2023

Orphanet J Rare Dis

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Background Diprosopus is a rare malformation of still unclear aetiology. It describes a laterally double faced monocephalic and single-trunk individual and has to be distinguished from the variant Janus type diprosopus. Results We examined seven double-faced foetuses, five showing true diprosopus, and one each presenting as monocephalic Janiceps and parasitic conjoined twins. Four of the foetuses presented with (cranio)rachischisis, and two had secondary hydrocephaly. Three foetuses showed cerebral duplication with concordant holoprosencephaly, Dandy-Walker cyst and/or intracranial anterior encephalocele. In the Janiceps twins, cerebral duplication was accompanied by cerebral di-symmetry. In the parasitic twins the cyclopic facial aspects were suggestive of concordant holoprosencephaly. In one of the true diprosopus cases, pregnancy was achieved after intracytoplasmic sperm injection. Whole-exome sequencing, perfomed in one case, did not reveal any possible causative variants.The comparison of our double-faced foetuses to corresponding artistic representations from the Tlatilco culture allowed retrospective assignment of hairstyles to brain malformations. Conclusion Brain malformations in patients with diprosopus may not be regarded as an independent event but rather as a sequel closely related to the duplication of the notochord and neural plate and as a consequence of the cerebral and associated craniospinal structural instabilities.

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Section: Discussionmentioning

confidence: 99%

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

Rehder

Kircher

Schoner

et al. 2023

Orphanet J Rare Dis

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“…Several types of frontal encephalocele have been identified based on the location of the defect (Suwanwela & Suwanwela, 1972), but the etiopathogenesis remains unknown, although a combination of genetic and environmental causes has been suggested (Hoving & Vermeij‐Keers, 1997). Frontal encephalocele has rarely been reported in the western world (1/35,000 live births), where the occipital defect is more common, whereas it is more frequent in Southeast Asia, Africa and Russia (1/3,500–6,000 live births) (Gump, 2015). However, the reasons for this geographical distribution are still not understood (Arifin, Suryaningtyas, & Bajamal, 2018; Mahapatra & Agrawal, 2006).…”

Section: Introductionmentioning

confidence: 99%

The challenging diagnosis of cranial congenital anomalies in a newborn from an Italian 20th century documented skeletal collection

Palamenghi

Biehler‐Gomez

Mattia

et al. 2021

Intl J of Osteoarchaeology

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Microcephaly and encephalocele are congenital conditions that are rarely observed in perinatal skeletal remains. This case report investigates the craniofacial features of an individual of 38 gestational weeks from the Collezione Antropologica LABANOF (CAL) skeletal collection for which the death certificate indicates microcephaly and encephalocele as the cause of death. Loss of normal morphology of the sphenoid, temporal, and maxillary bones was noted and described. The state of preservation of the skeleton hindered direct observation of the anomalies related to microcephaly, but features that can be ascribed to an encephalocele were found. However, the lesions observed could not be reliably related to the conditions reported in the death certificate, so an additional interpretation of the observed pathological signs was suggested, even though the bone changes are not specific enough to draw a definite diagnosis. Although the skeleton was not fully recovered, the remaining osseous elements provide relevant insights to the appearance of cranial anomalies in perinatal individuals. Moreover, these findings are helpful to bioarcheologists because of the dearth of reports that describe the skeletal changes that accompany these pathological conditions.

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Endoscopic endonasal repair of anterior cranial base encephaloceles: A lower cost alternative to open craniofacial approaches

Baroody

Roxbury

2022

Int Forum Allergy Rhinol

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Congenital anterior cranial base encephaloceles (ACBEs) are rare anomalies where brain tissue, leptomeninges, and cerebrospinal fluid (CSF) exist outside the skull's normal limits 1,2 and may arise from a patent foramen cecum. 2 The mainstay of treatment is surgical repair, 1 which is traditionally performed through open craniofacial approaches (OCAs). 1 Recent reports suggest endoscopic endonasal approaches (EEAs) for pediatric ACBEs demonstrate low complication rates 3 and may reduce health-care resource utilization (HRU) for anterior cranial base pathologies. 4 Optimal management of ACBEs remains unclear as few studies have directly compared outcomes 3 and none have compared cost differences for OCAs and EEAs. Given the rarity of ACBEs, we sought to utilize nationally representative data from the Kids' Inpatient Database (KID), 5 to compare the HRU of EEAs and the OCAs of ACBE repair. PATIENTS AND METHODS Data sourceGiven that these data are publicly available, this research was exempt from review by the institutional review board of the University of Chicago. A weighted cross-sectional analysis of 4 KID releases (2006, 2009, 2012, and 2016) was performed. National analyses can be performed using the KID, which is the largest publicly available database of pediatric hospitalizations in the United States, 5 and provides information including diagnoses, procedures, and HRU.

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Endoscopic Endonasal Repair of Congenital Defects of the Anterior Skull Base: Developmental Considerations and Surgical Outcomes

Cited by 9 publications

References 5 publications

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

The challenging diagnosis of cranial congenital anomalies in a newborn from an Italian 20th century documented skeletal collection

Endoscopic endonasal repair of anterior cranial base encephaloceles: A lower cost alternative to open craniofacial approaches

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