Anomalies of Midbrain/Hindbrain Development: Malformations of Cerebellum: Diagnosis, Classification, and Rehabilitative Hypothesis

Emanuele Liotta; Federica Dierna; Antonio Zanghì; Stefania Salafia; Michele Vecchio; Rita Chiaramonte; Giovanna Cancemi; Giuseppe Belfiore; Antonio Basile; Martino Ruggieri; Agata Polizzi

doi:10.1055/s-0044-1786788

Journal of Pediatric Neurology, Inhaltsverzeichnis

Journal of Pediatric Neurology 2024; 22(05): 377-386
DOI: 10.1055/s-0044-1786788

Review Article

Anomalies of Midbrain/Hindbrain Development: Malformations of Cerebellum: Diagnosis, Classification, and Rehabilitative Hypothesis

Emanuele Liotta‡^*

¹Pediatrics Postgraduate Residency Program, University of Catania, Catania, Italy

,

Federica Dierna‡^*

¹Pediatrics Postgraduate Residency Program, University of Catania, Catania, Italy

,

Antonio Zanghì‡^*

²Department 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

,

Stefania Salafia

³Unit of Pediatrics, Lentini Hospital, Lentini, Italy

,

Michele Vecchio

⁴Department of Biomedical and Biotechnological Sciences, Rehabilitation Unit, University of Catania, Catania, Italy

,

Rita Chiaramonte

⁴Department of Biomedical and Biotechnological Sciences, Rehabilitation Unit, University of Catania, Catania, Italy

,

Giovanna Cancemi

⁵Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco”, Catania, Italy

,

Giuseppe Belfiore

⁶Department of Medical Surgical Sciences and Advanced Technologies, Unit of Radiology 1, University Hospital Policlinico “G. Rodolico-San Marco”, Catania, Italy

,

Antonio Basile

⁶Department of Medical Surgical Sciences and Advanced Technologies, Unit of Radiology 1, University Hospital Policlinico “G. Rodolico-San Marco”, Catania, Italy

,

Martino Ruggieri

⁷Department of Clinical and Experimental Medicine, Unit of Clinical Pediatrics, University of Catania, Catania, Italy

,

Agata Polizzi

⁸Department of Educational Sciences, University of Catania, Catania, Italy

› Institutsangaben

Abstract

Extensive research has been conducted on the cerebellum, making it one of the most thoroughly investigated regions of the brain. It plays a fundamental role not only in motor control but also in motor learning and cognition. The development of the cerebellum is a lengthy process, beginning during the embryonic period up to the first years of life. This slow and protracted process makes it a vulnerable organ liable to different insults, responsible for many developmental disorders such as Dandy–Walker syndrome, medulloblastoma, dystroglicanopathy, pontocerebellar hypoplasia, thubulinopathies, and Jubert syndrome. Due to several factors, the true prevalence of cerebellar malformations is not known in most cases. The cerebellum undergoes development through following four fundamental stages:

(1) Identification of the cerebellar region at the boundary between the midbrain and hindbrain.

(2) Establishment of two cell proliferation compartments: firstly, Purkinje cells and deep cerebellar nuclei emerge from the ventricular zone of the metencephalic alar plate; secondly, granule cell precursors are generated from a separate proliferation compartment known as the upper rhombic lip.

(3) Migration of granule cells toward the interior: granule precursor cells constitute the external granular layer (EGL), and during the initial postnatal year, granule cells migrate inward to their final position in the internal granular layer.

(4) Formation of cerebellar circuitry and subsequent differentiation.

Based on different types of involvement of the structures detected in the brain magnetic resonance, the classification of brainstem and cerebellar anomalies is divided into three categories: (1) mainly the cerebellum, (2) mainly the brain stem, and (3) both involved. This review will outline the developmental processes of the cerebellum and delve into common developmental disorders associated with it, including the Dandy–Walker syndrome, cerebellar hypoplasia, rhomboencephalosynapsis, lissencephaly, and gray matter heterotopias.

Keywords

cerebellar malformations - cerebellum - cerebellar region/hypoplasia/Dandy–Walker syndrome

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