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  • Costovertebral Malformations and Neural Tube Defects: A Case of Jarcho-Levin Syndrome with an Associated Meningocele

    Final Number:
    345

    Authors:
    Jaime L. Martinez Santos MD; Sonia Fermin MD, FACS

    Study Design:
    Other

    Subject Category:

    Meeting: Congress of Neurological Surgeons 2015 Annual Meeting

    Introduction: In 1938, Jarcho and Levin described this rare autosomal recessive syndrome of short-trunk dwarfism and respiratory insufficiency resulting from segmental costovertebral malformations. More recently, two clinical subtypes have been identified: the spondylocostal dysplasias (SCD; characterized by intrinsic rib abnormalities), and the spondylothoracic dysplasias (STD, or Lavy-Moseley syndrome). Although rare, associated Neural Tube Defects (NTDs) have been reported previously. Most frequently in the forms of split cord malformations, myelomeningoceles, or both; and usually located at thoracolumbar segments—where more severe vertebral segmentation defects occur. Therefore, coexisting caudal meningoceles separated from those severely deformed segments are uncommon. Unfortunately, the flawed thoracic anatomy inherent to Jarcho-Levin syndrome (JLS), especially in the STD-subtype, causes serious respiratory insufficiency, anesthetic complications, and early death, precluding neurosurgical repairs of associated defects. We present the successful management of an unusual case of STD with an associated large lumbosacral meningocele. JLS's clinical and radiological pearls are illustrated.

    Methods: This 4-month-old Dominican girl was born prematurely with numerous malformations (Figs. 1-5), which included facial asymmetry, low-implanted left ear, short-neck, short-trunk, barrel-chest, a left pre-axillary thoracic depression, thoracolumbar scoliosis, and an enormous lumbosacral meningocele. Questioning disclosed an unremarkable family history and an adequate maternal folate supplementation. Upon examination, the alert and playful normocephalic infant had an opisthotonos-positioned head and diminished legs movements, without bladder or vowel dysfunctions. A CT-head was clear, and normal developmental milestones were met. Roentgenography (Fig. 2) revealed costovertebral abnormalities unique to JLS, confirming the diagnosis. Subsequently, close respiratory surveillance and chest physiotherapy were initiated, and the meningocele was repaired in the usual fashion (Figs. 4-5).

    Results: Ensuing a well-tolerated surgery, she had an uneventful postoperative course with an improved neurological exam and a stable condition at 6-month follow-up.

    Conclusions: Paients with NTDs should be comprehensively evaluated for associated congenital malformations. The coexistence of JLS, alter management decision-making. In these cases, early diagnosis and aggressive neonatal care with respiratory support and chest physiotherapy—JLS’s mainstay managements— are lifesaving and, therefore, necessary before undertaking any interventional effort to repair associated malformations.

    Patient Care: First, this article summarizes the clinical and radiological features of this rare syndrome, and the effective- lifesaving- initial management. Second, it demonstrates the feasibility of a surgical repair in these patients despite severe respiratory compromise. And lastly, we hoped to clarify the distinction between the two subtypes, and emphasize the association between costovertebral malformations and neural tube defects.

    Learning Objectives: By the conclusion of this session, participants should be able to: 1)Recognize the clinical and radiological features of Jarcho-Levin syndrome. 2)Distinguish between the two subtypes of Jarcho-Levin syndrome. 3)Understand why respiratory support is key in the perioperative management of Jarcho-Levin syndrome.

    References: References 1. Jarcho S LP. Hereditary malformation of the vertebral bodies. Bull John Hopkins Hosp. 1938(62):216-226. 2. Lavy NW, Palmer CG, Merritt AD. A syndrome of bizarre vertebral anomalies. The Journal of pediatrics. Dec 1966;69(6):1121-1125. 3. Moseley JE BR. Spondylothoracic dysplasia—a syndrome of congenital anomalies. AJR. 1969(106):166–169. 4. Giacoia GP, Say B. Spondylocostal dysplasia and neural tube defects. Journal of medical genetics. Jan 1991;28(1):51-53. 5. Reyes MG, Morales A, Harris V, Barreta TM, Goldbarg H. Neural defects in Jarcho-Levin syndrome. Journal of child neurology. Jan 1989;4(1):51-54. 6. Kansal R, Mahore A, Kukreja S. Jarcho-Levin syndrome with diastematomyelia: A case report and review of literature. Journal of pediatric neurosciences. Jul 2011;6(2):141-143. 7. Kutuk MS, Ozgun MT, Tas M, Poyrazoglu HG, Yikilmaz A. Prenatal diagnosis of split cord malformation by ultrasound and fetal magnetic resonance imaging: case report and review of the literature. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. Dec 2012;28(12):2169-2172. 8. Duru S, Ceylan S, Guvenc BH. Segmental costovertebral malformations: association with neural tube defects. Report of 3 cases and review of the literature. Pediatric neurosurgery. May 1999;30(5):272-277. 9. Yi S, Yoon DH, Shin HC, Kim KN, Lee SW. A thoracic myelomeningocele in a patient with spondylocostal dysostosis. Case report. Journal of neurosurgery. Jan 2006;104(1 Suppl):37-40. 10. Berdon WE, Lampl BS, Cornier AS, et al. Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). Pediatric radiology. Mar 2011;41(3):384-388.

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