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Seizures, scoliosis, macrocephaly syndrome — Clinical Guidelines

Overview

A syndrome characterized by seizures, scoliosis, and macrocephaly, often requiring multidisciplinary management involving orthopedic, neurological, and potentially metabolic evaluations. 14 44

Diagnosis

Clinical Presentation: Presence of seizures, scoliosis (typically idiopathic or congenital), and macrocephaly. 14 44

Imaging: MRI and CT scans to assess spinal deformities and brain structure, particularly focusing on multifidus muscle degeneration and intervertebral disc changes. 1 2 14

Neurological Evaluation: EEG to evaluate seizure activity and rule out other causes; neurological examination to assess motor function and developmental milestones. 11 56

Genetic Testing: Consideration for genetic analysis, especially in cases with associated syndromes like M-CMTC. 44

Management

Orthopedic Intervention: Spinal fusion or other surgical interventions for severe scoliosis deformities. 22 26 30

Antiepileptic Drugs (AEDs): First-line treatment with drugs like valproate, levetiracetam, or lamotrigine, tailored to seizure type and patient-specific factors. 5 11 39

Metabolic Evaluation: Investigate and treat underlying metabolic disorders, such as vitamin B6 deficiency, if identified. 36

Pain Management: Multimodal analgesia including regional anesthesia (epidural catheters) and adjuncts like dexmedetomidine for postoperative pain control. 48 10

Special Populations

Pediatrics: Tailored AED dosing and close monitoring for developmental impacts; consider fusionless surgical techniques to preserve spinal motion. 11 38

Elderly: Focus on minimizing complications from surgery and managing comorbidities that may affect recovery and seizure control. 22 30

Comorbidities: Special attention to metabolic disorders (e.g., vitamin D deficiency) and their impact on seizure management and bone health. 17 36

Key Recommendations

Multidisciplinary Approach: Integrate orthopedic, neurological, and metabolic specialists for comprehensive care. (Evidence: Expert opinion 14)

Genetic and Metabolic Screening: Perform genetic testing and metabolic evaluations to identify underlying causes and guide specific treatments. (Evidence: Moderate 44 36)

Tailored Antiepileptic Therapy: Select AEDs based on seizure type and patient-specific factors, considering potential drug interactions and side effects. (Evidence: Moderate 5 11)

Optimized Surgical Techniques: Utilize advanced surgical methods that minimize spinal fusion extent to preserve spinal function, particularly in pediatric patients. (Evidence: Expert opinion 38)

Postoperative Pain Control: Employ multimodal analgesia strategies including regional anesthesia to enhance recovery and reduce complications. (Evidence: Moderate 48 10)

References

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Comparison of Remimazolam and Dexmedetomidine for Sedation in Awake Endotracheal Intubation in Scoliosis Surgery: A Retrospective Analysis. Medical science monitor : international medical journal of experimental and clinical research 2024. link 11 Pressler RM, Abend NS, Auvin S, Boylan G, Brigo F, Cilio MR et al.. Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures. Epilepsia 2023. link 12 Ramgopal S, Martin-Gill C. Deviation From National Dosing Recommendations for Children Having Out-of-Hospital Emergencies. Pediatrics 2023. link 13 Zou D, Zhang R, Yu L, Hu T, Wu B. Seizures associated with antibiotics: a real-world disproportionality analysis of FAERS database. Expert opinion on drug safety 2023. link 14 Wang X, Liu H, Wang W, Sun Y, Zhang F, Guo L et al.. Comparison of multifidus degeneration between scoliosis and lumbar disc herniation. 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The preoperative predictors for subsequent degeneration in L5-S1 disc after long fusion arthrodesis terminating at L5 in patients with adult scoliosis: focus on spinopelvic parameters. Journal of orthopaedic surgery and research 2018. link 25 Gao X, Wang L, Yan C, Gao Y, Shen Y. Predictors of Deterioration in Sagittal Balance Following Long Fusion Arthrodesis to L5 in Patients with Adult Scoliosis. Medical science monitor : international medical journal of experimental and clinical research 2018. link 26 Gao X, Wang L, Zhang J, Wang P, Shen Y. Long Fusion Arthrodesis Stopping at L5 for Adult Scoliosis: Fate of L5-S1 Disk and Risk Factors for Subsequent Disk Degeneration. Clinical spine surgery 2018. link 27 Sherratt FC, Snape D, Goodacre S, Jackson M, Pearson M, Marson AG et al.. Paramedics' views on their seizure management learning needs: a qualitative study in England. BMJ open 2017. link 28 Webb J, Long B, Koyfman A. An Emergency Medicine-Focused Review of Seizure Mimics. The Journal of emergency medicine 2017. link 29 Hart AR, Pilling EL, Alix JJ. Neonatal seizures-part 2: Aetiology of acute symptomatic seizures, treatments and the neonatal epilepsy syndromes. Archives of disease in childhood. Education and practice edition 2015. link 30 Yagi M, Patel R, Boachie-Adjei O. Complications and Unfavorable Clinical Outcomes in Obese and Overweight Patients Treated for Adult Lumbar or Thoracolumbar Scoliosis With Combined Anterior/Posterior Surgery. Journal of spinal disorders & techniques 2015. link 31 Bernstein P, Hentschel S, Platzek I, Hühne S, Ettrich U, Hartmann A et al.. Thoracal flat back is a risk factor for lumbar disc degeneration after scoliosis surgery. The spine journal : official journal of the North American Spine Society 2014. link 32 Aydogan MS, Korkmaz MF, Ozgül U, Erdogan MA, Yucel A, Karaman A et al.. Pain, fentanyl consumption, and delirium in adolescents after scoliosis surgery: dexmedetomidine vs midazolam. 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Seizures, scoliosis, macrocephaly syndrome