Jarcho-Levin Syndrome with Diastematomyelia: Case Report of an Adult Patient and Review of Literature

Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus

“…Anomalies associated with JLS include hydrocephalus, meningomyelocele, Arnold-Chiari malformation, renal and urinary tract anomalies, and neural tube anomalies [ 3 , 4 , 8 , 9 ]. However, JLS cases associated with diastematomyelia are extremely rare [ 4 , 5 ]. Diastematomyelia arises due to the failure of midline axial integration during gastrulation in the embryonic period.…”

“…There are 2 types of diastematomyelia classified based on the presence of a separating septum. In type 1 diastematomyelia, the 2 hemicords are separated by a bony or osteocartilaginous septum, while in type 2 there is no separating septum between the 2 hemicords [ 5 , 6 ]. Our case fits type 2 diastematomyelia, in which the 2 hemicords are seen in a single dural sac with no separating septum between them.…”

“…Our case fits type 2 diastematomyelia, in which the 2 hemicords are seen in a single dural sac with no separating septum between them. To date, only ten cases of JLS with true diastematomyelia have been reported in the English literature and this is the 11th reported case ( Table 1 ) [ [3] , [4] , [5] , [8] , [9] , [10] , [11] , [12] , [13] , [14] ]. In addition, most of the previously reported cases were type I malformations, making the current finding of type 2 split cord interesting [ 4 , 14 ].…”

“… No. Study Age of patient Sex Primary diagnosis a Type of diastematomyelia Level Associated findings Outcome 1 Reyes [11] Newborn F JLS Type 2 Thoracolumbar Club foot Died from pneumonia 2 Giacoia [9] Newborn M SCD Not specified Thoracolumbar Imperforate anus, undescended testes, hydrocephalus, atrial septal defect Respirator dependent with recurrent pneumonia 3 Etus [8] 7 yr F SCD Type 1 Lumbar Spinal lipoma Operated, outcome not stated 4 Kansal [4] 1 and a half yr F JLS Type 1 Lumbar _____ Operated with residual neurologic dysfunction 5 Yilmaz [13] 2 y F SCD Type 1 Lumbar Double nipple on one side Operated with good outcomes 6 Srinivas [12] 8 yr F SCD Type 2 Thoracolumbar _____ Not operated 7 Kim [5] 37 yr F SCD Type 1 Thoracolumbar _____ Not operated 8 Muthukumar [3] 7 mo F SCD Type 1 Lumbosacral <...…”

“…Our patient has an additional dorsal dermal sinus which is a tract with epithelial lining that extends into the underlying structures to varying depths and frequently ends inside the thecal sac. Both diastematomyelia and dorsal dermal sinus can be detected by using spinal ultrasound [ 5 , 6 ]. This case is the first to be reported with JLS, diastematomyelia, and dorsal dermal sinus occurring together.…”