Diastematomyelia and foot deformity: A case report and literature review

Background: Diastematomyelia is a rare form of spinal dysraphism characterized by a longitudinal split of the spinal cord into two hemicords, typically separated by a fibrous or cartilaginous septum. Although it may remain asymptomatic, it can present with orthopedic abnormalities, particularly foot deformities. Early recognition is important to prevent irreversible neurological sequelae.

Case presentation: We report the case of an 8-year-old patient with a left varus pes cavus and muscle atrophy. Neurological examination showed preserved motor and sensory function. MRI revealed a type I diastematomyelia with low-lying cord and vertebral anomalies. Given the absence of neurological deficits, conservative management was adopted, consisting of orthotics and rehabilitation and periodic clinical follow-up.

Conclusion: This case underscores the importance of considering underlying spinal malformations in children presenting with foot deformities, even in the absence of overt neurological impairment. MRI is the gold standard for diagnosis, and for identifying associated anomalies or risk factors for future deterioration. Long-term surveillance is essential, as neurological deterioration may develop insidiously during growth. 

Keywords: Diastematomyelia; Spinal Dysraphism; Spinal Cord Malformation; Foot Deformity; Pediatric OrthopedicsBackground: Diastematomyelia is a rare form of spinal dysraphism characterized by a longitudinal split of the spinal cord into two hemicords, typically separated by a fibrous or cartilaginous septum. Although it may remain asymptomatic, it can present with orthopedic abnormalities, particularly foot deformities. Early recognition is important to prevent irreversible neurological sequelae.

Case presentation: We report the case of an 8-year-old patient with a left varus pes cavus and muscle atrophy. Neurological examination showed preserved motor and sensory function. MRI revealed a type I diastematomyelia with low-lying cord and vertebral anomalies. Given the absence of neurological deficits, conservative management was adopted, consisting of orthotics and rehabilitation and periodic clinical follow-up.

Conclusion: This case underscores the importance of considering underlying spinal malformations in children presenting with foot deformities, even in the absence of overt neurological impairment. MRI is the gold standard for diagnosis, and for identifying associated anomalies or risk factors for future deterioration. Long-term surveillance is essential, as neurological deterioration may develop insidiously during growth.