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Journal of Pediatric Neurology
DOI: 10.1055/s-0044-1786791
Special Issue Article

Anomalies of the Mesenchyme (Meninges and Skull)—Defects of Neural Tube Closure: Cephalocele and Other Calvarial and Skull Base Defects; Intracranial Lipomas; Arachnoid Cysts; Nonsyndromic and Syndromic Craniosynostoses

Salvatore Carnazzo‡   *
1   Pediatrics Postgraduate Residency Program, University of Catania, Catania, Italy
,
Daria La Cognata‡   *
1   Pediatrics Postgraduate Residency Program, University of Catania, Catania, Italy
,
Antonio Zanghì‡   *
2   Department of Medical and Surgical Sciences and Advanced Technologies, Research Center for Surgery of Complex Malformation Syndromes of Transition and Adulthood, University of Catania, Catania, Italy
,
Francesco Marino
3   Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Stefano Palmucci
4   IPTRA Unit, Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Giuseppe Belfiore
5   Radiology Unit 1, Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Antonio Basile
5   Radiology Unit 1, Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Michele Vecchio
6   Rehabilitation Unit, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy
,
Claudia Di Napoli
7   Division of Genetics, Department of Medicine and Surgery, Kore University, Enna, Italy
,
Agata Polizzi
8   Division of Pediatrics, Department of Educational Sciences, University of Catania, Catania, Italy
,
Andrea D. Praticò
9   Division of Pediatrics, Department of Medicine and Surgery, Kore University, Enna, Italy
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Abstract

Within the embryonic head, a layer of mesenchyme envelops the brain beneath the surface ectoderm. This cranial mesenchyme is responsible for the formation of the meninges, the calvaria (upper portion of the skull), and the scalp's dermis. Irregular development of these structures, particularly the meninges and the calvaria, is associated with notable congenital defects in humans, such as defects in neural tube closure. Anencephaly is the most common neural tube defect (NTD) and one of the most severe malformations of the central nervous system; it consists in the complete or partial absence of the brain, associated with the absence of the bones of the cranial vault. Iniencephaly is an uncommon congenital NTD characterized by abnormalities in the occipital region, including rachischisis of the cervicothoracic spine and a fixed retroflexion deformity of the head. Unlike anencephaly, in iniencephaly, there is a skull cavity and a normal-looking skin that entirely covers the head and the medullary retroflex area. Cephaloceles are congenital abnormalities distinguished by the protrusion of meninges and/or brain tissue through a naturally occurring defect in the skull bone. This anomaly is typically covered by skin or mucous membrane. Intracranial lipoma is a relatively uncommon and generally benign tumor that occurs in an abnormal location within the brain; it probably represents a disturbance of the differentiation of the primordial meninges: for unknown causes, the meningeal mesenchyme can differentiate into adipose tissue. Arachnoid cysts are sacs filled with cerebrospinal fluid (CSF) situated between the brain or spinal cord and the arachnoid membrane. Typically, these cysts originate within CSF cisterns and gradually expand their boundaries. Craniosynostosis is the early fusion of one or more cranial sutures. It can occur spontaneously, be associated with a syndrome, or have a familial connection. It can involve one or multiple cranial sutures. Pfeiffer's, Crouzon's, and Apert's syndromes are among the more prevalent syndromic craniosynostoses.

Keywords

mesenchyme - neural tube closure's defects - anencephaly - iniencephaly - cephalocele - intracranial lipomas - arachnoid cysts - nonsyndromic and syndromic craniosynostoses

* These authors contributed equally to the article.




Publication History

Received: 05 December 2023

Accepted: 04 April 2024

Article published online:
11 May 2024

© 2024. Thieme. All rights reserved.

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