BACKGROUND: The structural complexity of terminal myelocystocele (TMC) precludes a recognizable link to spinal cord development and therefore a plausible embryogenetic theory. OBJECTIVE: To demystify TMC using clinical, imaging, surgical, electrophysiological, and histopathological data and to propose a theory of embryogenesis. METHODS: Our series consisted of 4 newborns and 6 older children. All had preoperative magnetic resonance imagings and surgical repair of the myelocystocele with electrophysiological monitoring. RESULTS: TMC can be deconstructed into essential and nonessential features. Essential features are present in all TMCs and constitute the core malformation, comprising an elongated spinal cord extending extraspinally into a cerebrospinal fluid--filled cyst that is broadly adherent to the subcutaneous fat. The functional conus resides in the proximal cyst or within the intraspinal cord, and the caudal myelocystocele wall is nonfunctional fibroneural tissue. Nonessential features include variable measures of hydromyelia, caudal meningocele, and fat, present in only some patients. The core structure of TMC strikingly resembles a transitory stage of late secondary neurulation in chicks in which the cerebrospinal fluid-filled bleblike distal neural tube bulges dorsally to fuse with the surface ectoderm, before focal apoptosis detaches it from the surface and undertakes its final dissolution. We theorize that TMC results from a time-specific paralysis of apoptosis just before the dehiscence of the cystic distal cord from the future skin, thereby preserving the embryonic state. CONCLUSION: Besides tethering, the myelocystocele may show early rapid expansion causing precipitous deterioration. We recommend early repair with resection of the nonfunctional caudal cyst wall, reconstruction of the proximal neural placode, and duraplasty.
BACKGROUND: The structural complexity of terminal myelocystocele (TMC) precludes a recognizable link to spinal cord development and therefore a plausible embryogenetic theory. OBJECTIVE: To demystify TMC using clinical, imaging, surgical, electrophysiological, and histopathological data and to propose a theory of embryogenesis. METHODS: Our series consisted of 4 newborns and 6 older children. All had preoperative magnetic resonance imagings and surgical repair of the myelocystocele with electrophysiological monitoring. RESULTS:TMC can be deconstructed into essential and nonessential features. Essential features are present in all TMCs and constitute the core malformation, comprising an elongated spinal cord extending extraspinally into a cerebrospinal fluid--filled cyst that is broadly adherent to the subcutaneous fat. The functional conus resides in the proximal cyst or within the intraspinal cord, and the caudal myelocystocele wall is nonfunctional fibroneural tissue. Nonessential features include variable measures of hydromyelia, caudal meningocele, and fat, present in only some patients. The core structure of TMC strikingly resembles a transitory stage of late secondary neurulation in chicks in which the cerebrospinal fluid-filled bleblike distal neural tube bulges dorsally to fuse with the surface ectoderm, before focal apoptosis detaches it from the surface and undertakes its final dissolution. We theorize that TMC results from a time-specific paralysis of apoptosis just before the dehiscence of the cystic distal cord from the future skin, thereby preserving the embryonic state. CONCLUSION: Besides tethering, the myelocystocele may show early rapid expansion causing precipitous deterioration. We recommend early repair with resection of the nonfunctional caudal cyst wall, reconstruction of the proximal neural placode, and duraplasty.