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.
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