Journal of Pediatric Neurology 2024; 22(05): 407-418
DOI: 10.1055/s-0044-1788648
Review Article

Malformations of the Spinal Cord: From Genetics to Diagnosis and Rehabilitation

Giovanni Cacciaguerra*
1   Pediatrics Postgraduate Residency Program, University of Catania, Catania, Italy
,
Federica Dierna*
1   Pediatrics Postgraduate Residency Program, University of Catania, Catania, Italy
,
Antonio Zanghì*
2   Research Center for Surgery of Complex Malformation Syndromes of Transition and Adulthood, Department of Medical and Surgical Sciences and Advanced Technologies, University of Catania, Catania, Italy
,
Michele Vecchio
3   Rehabilitation Unit, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy
,
Elena R. Praticò
4   Unit of Pediatrics, Carpi Hospital, Carpi, Italy
,
Giuliana La Rosa
5   Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Stefano Palmucci
6   IPTRA Unit, Department of Medical Surgical Sciences and Advanced Technologies, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Giuseppe Belfiore
7   Unit of Radiology 1, Department of Medical Surgical Sciences and Advanced Technologies “GF Ingrassia,” University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Antonio Basile
7   Unit of Radiology 1, Department of Medical Surgical Sciences and Advanced Technologies “GF Ingrassia,” University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Martino Ruggieri
8   Unit of Pediatric Clinic, AOU “Policlinico”, PO “G. Rodolico”, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
,
Agata Polizzi
9   Chair of Pediatrics, Department of Educational Sciences, University of Catania, Catania, Italy
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Abstract

Spinal cord malformations, known as “spinal dysraphisms” encompass a diverse range of spinal abnormalities characterized by incomplete median closure of mesenchymal, bone, and nervous tissues. They are classified as “open,” involving both the spinal cord and overlying tissues, or “occult,” affecting only nervous system structures. Neurulation abnormalities along the neural tube, from the rostral to the caudal portions, primarily cause these malformations. Clinical presentations vary, including cutaneous manifestations like hemangiomas, dimples, hair tufts, and scoliosis. “Tethered cord syndrome,” often associated with these malformations, manifests as a clinical syndrome rather than a primary anomaly. Newborns are typically asymptomatic, with malformations often identified by associated skin abnormalities. Older children may experience pain, sensory/motor disturbances, urinary/anal sphincter abnormalities, and muscle weakness affecting mobility. Neuroimaging, crucial for diagnosis and treatment planning, includes ultrasound, CT, and MRI. Surgical intervention, tailored to specific malformation subtypes, may involve the repair of myelomeningocele soon after birth or conservative management for asymptomatic occult dysraphism. Rehabilitation encompasses physical, occupational, recreational, and speech therapies. Prevention is paramount, emphasizing the role of health care professionals in prenatal care and education. This review aims to provide a systematic classification of spinal cord malformations to aid clinicians in diagnosis and management.

* These authors contributed equally to the paper.




Publikationsverlauf

Eingereicht: 28. November 2023

Angenommen: 04. April 2024

Artikel online veröffentlicht:
09. August 2024

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