Neurosurgical management of a large meningocele in Jarcho-Levin syndrome: clinical and radiological pearls.

To cite: Martinez Santos JL, Dmytriw AA, Fermin S. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015210240 DESCRIPTION A 4-month-old Dominican girl was born prematurely with numerous malformations (figures 1–4) including facial asymmetry, low-implanted left ear, short neck, short trunk, barrel chest, a left preaxillary thoracic depression, thoracolumbar scoliosis and an enormous lumbosacral meningocele. Family history was non-contributory and prenatal maternal folate supplementation was adequate. On examination, the alert and playful normocephalic infant had an opisthotonos-positioned head and diminished leg movements, without bladder or bowel dysfunction. A CT of the head was clear (figure 3B), and normal developmental milestones were met. Roentgenography (figure 2A) revealed costovertebral abnormalities unique to Jarcho-Levin syndrome ( JLS), confirmed on three-dimensional CT reconstruction (figure 2B). Subsequently, close respiratory surveillance and chest physiotherapy was initiated, and the meningocele was repaired surgically in the usual fashion (figure 4). Intraoperatively, a myelomeningocele was definitively ruled out as no nerve roots were contained within the herniation. However, nerve roots were found to be adhered to the neck of the sac internally. We theorise that this finding, in addition to arachnoid septations, were responsible for the lower extremity weakness. The infant had an uneventful postoperative course, with an improved neurological examination and stable condition at 6-month follow-up. Specifically, our patient exhibited a greater degree of spontaneous active movement of her lower extremities. In addition, she demonstrated increased strength against resistance of the muscles innervated by L5-S1 by means of plantar and dorsiflexion as well as hallux extension, especially during stimulation of Babinski reflex. In 1938, Jarcho and Levin described this rare autosomal recessive syndrome of short-trunk dwarfism and respiratory insufficiency resulting from segmental costovertebral malformations. Mutations in the genes DLL3 and MESP2 on chromosomes 19 and 15, respectively, are the most Figure 1 Patient’s phenotype and marked thoracic depression (arrowheads).