Multiple site neural tube defects at Zewuditu Memorial Hospital, Addis Ababa, Ethiopia: a case report

Abstract

Background Neural tube defects are common group of central nervous system anomalies of complex etiology and major public health importance worldwide. The occurrence of multiple neural tube defects, however, is an extremely rare event and has never been reported in Ethiopia so far. This study gives an insight into how the embryogenesis, management, and postoperative complications of multiple neural tube defects differ from the ordinary single neural tube defects on the basis of up-to-date existing literature. Case presentation This paper highlights a case of an 8 days old female black race Ethiopian neonate who was brought by her mother with the chief complaint of lower back and lower neck swelling since birth. The findings were a 5 × 4 × 5 cm sized ulcerated placode at the mid-lumbosacral area and a 1.5 × 1.5 × 1 cm sized fluctuant, nontender, transilluminating mass with overlying unruptured defect dysplastic skin at the cervicothoracic junction. With a diagnosis of multiple neural tube defects secondary to unruptured cervicothoracic meningocele and ruptured lumbosacral myelomeningocele, single-stage repair of the defects was done with good outcome. Conclusion There is insufficient evidence as to the exact mechanism of development of multiple neural tube defects. Similarly, whether patients with multiple neural tube defects had increased risk of post repair hydrocephalus compared with patients who have single neural tube defect is unknown. Hence, more research on the embryogenesis, management, and long-term outcome of multiple neural tube defects in particular and single neural tube defects in general should be done to better help patients with this costly and crippling problem. Lastly, the practice of folic acid supplementation is very low in resource-limited countries such as Ethiopia and, hence, should be improved.

Multiple-site neural tube defects complicated by multiple-site split cord malformations and thickened filum terminale: experience at a pediatric neurosurgical teaching hospital in Ethiopia. Illustrative case

“…To date, there exist 57 cases of MNTDs reported in the scientific literature, with its occurrence being extremely rare. 10 Similarly, MSCM is very rare and accounts for only 1% of all cases of SCM. 11 The rarity of multiple noncontiguous SCM is evidenced by the presence of only 8 cases reported in the scientific community as of 2014.…”

“…The repair for our case was done as a single-staged procedure with an uneventful postoperative course, which is consistent with other case reports. 10 , 17 However, the long-term outcome and associated complications (the risk of postdefect-repair hydrocephalus and the need of CSF diversion, the risk of spinal cord tethering, etc.) for patients with MNTD and MSCM compared to single-site NTD and SCM is not known well due to paucity of evidence and requires further study.…”

Hallazgo de doble defecto del tubo neural. Reporte de un caso

“…Analizando la literatura a nivel mundial, únicamente se han descrito 58 casos de múltiples defectos del tubo neural (Shiferaw et al, 2021;Blencowe et al, 2018). En Venezuela no se ha reportado ningún caso.…”

“…Hasta la fecha, existen tres grandes hipótesis al respecto, estas son: la teoría de cierre de "sitio único", también conocida como teoría de cierre tipo cremallera, la teoría de múltiples sitios de cierre y el modelo de iniciación de recierre (Shiferaw et al, 2021).…”

“…Los defectos múltiples del tubo neural (MNTD, por sus siglas en inglés) son anomalías congénitas extremadamente raras, que se definen por la aparición simultánea, en un solo caso, de más de un defecto del tubo neural con tejido normal en el medio (Shiferaw et al, 2021).…”