Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases.

Abstract

Spondylocostal dysostosis, also known as Jarcho-Levine syndrome, is a rare disorder characterized by multiple vertebral and rib anomalies at birth. The association of occult spinal dysraphic lesions with this entity is rare. Two patients with spondylocostal dysostosis and occult spinal dysraphic lesions, one with type I split cord malformation and another with spinal dermal sinus are being reported. A 7-month-old female child who was operated at birth for imperforate anus was noted to have a dimple at the low back with altered skin color around the dimple. Examination revealed the right lower extremity was slightly thinner than the left. Plain radiographs showed features of spondylocostal dysostosis with scoliosis. Magnetic resonance imaging (MRI) showed a type I split cord malformation at the lumbosacral junction with low-lying conus and terminal syringomyelia. Patient underwent excision of the bony spur uneventfully. A 14-month-old male child was noted to have a small swelling in the low back along with deformity of the right lower chest since birth. Plain radiographs revealed features of spondylocostal dysostosis. MRI showed a spinal dermal sinus at the lumbosacral junction with a low-lying conus. The patient underwent excision of the spinal dermal sinus and untethering of the cord uneventfully. Although rare, spondylocostal dysostosis can be associated with occult spinal dysraphic lesions like type I split cord malformations or spinal dermal sinus. Physicians should be aware about the possibility of children with spondylocostal dysostosis harboring occult spinal dysraphic lesions so that these patients receive appropriate treatment.