Avoiding the antenatal counselling faux pas: bridging the gap between prenatal prognostication and postnatal outcome of closed spina bifida.

PURPOSE: Closed spina bifida (CSB) is rare in prenatal literature, and various lesions are grouped under this broad nosological entity CSB, leading to confusing and misleading prognostic conclusions. METHODS: This is a retrospective observational cohort study of prenatally detected CSB cases using two-dimensional ultrasound, complemented by three-dimensional ultrasonography and foetal MRI in indicated cases, from October 2014 to October 2021 in a tertiary-level single centre. RESULTS: The most common upper vertebral level of CSB was lumbar in 66.6% (10/15). The sub-classification of lesions based on prenatal ultrasound showed an agreement in 53% of the cases. Sixty percent had associated abnormalities identified postnatally, the most common being anorectal malformation seen in 33.3%. On postnatal follow-up, 46.6% had bowel incontinence and bladder dysfunction, and 33.3% developed lower limb deformities. CONCLUSIONS: All CSBs do not have a uniformly favourable prognosis. The prognosis of CSB depends on the pathological type, the presence of associated abnormalities and the management.

Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review.

Kabuki syndrome (KS) is a congenital disorder characterized by distinctive facial features, skeletal and dermatoglyphic abnormalities, mild-to-moderate intellectual disability, and postnatal growth deficiency. Recently, mutations in the KMT2D and KDM6A genes have been identified as the causative factors in most KS cases. In this study, we present three cases of KS associated with tethered cord syndrome. All cases had a sacral dimple, which is a skin stigmata, and radiological abnormalities, including fatty or thickened filum terminale. Untethering surgery was performed and clinical improvement was achieved. Although in the association between KS and closed neural tube defect (NTD) has rarely been discussed, we emphasize that sacral dimples in KS and tethered cord syndrome are not uncommon. The KS patients with sacral dimple must be carefully investigated by radiological examination and urological study if there is abnormality. Further understanding of the genetic mechanism underlying KS might provide a novel insight on the correlation between the genetics and development of closed NTDs.

Fetal lipomyelomeningocele: A closed neural tube defect diagnosed at second-trimester ultrasound examination.

Fetal lipomyelomeningocele was suspected during the second-trimester ultrasound and confirmed by magnetic resonance imaging. The pregnancy took its course and a term neonate was delivered. At 2 years of age lipomyelomeningocele surgical removal was performed. The patient is now 4 years old and, despite neurogenic bladder, is a healthy boy with normal psychomotor development for his age. This case illustrates the favorable prognosis of this entity and the importance of prompt diagnosis and multidisciplinary counseling.

Ependyma-Lined Canal with Surrounding Neuroglial Tissues in Lumbosacral Lipomatous Malformations: Relationship with Retained Medullary Cord.

BACKGROUND: An ependyma-lined canal with surrounding neuroglial tissues can be present in lumbosacral lipomatous malformations; however, the precise embryological significance is still unclear. METHOD: Six out of 50 patients with lipomatous malformations had ependymal structures. We retrospectively analyzed the clinical, neuroradiological, and histological findings of these patients to demonstrate the relationship with the embryological background of the retained medullary cord (RMC), which normally regresses, but was retained here because of late arrest of secondary neurulation. RESULTS: Five (13.9%) of 36 patients with filar and caudal types and 1 of 3 lipomyelomeningoceles had ependymal structures, while none with dorsal and transitional types had these tissues. Histologically, the ependymal structures surrounded by neuroglial tissue and containing various amounts of adipose tissue bear a striking resemblance to the ependymal structures in RMC. CONCLUSION: The 13.9% incidence of association between the ependymal structures and filar and caudal types is thought to be because of second ary neurulation failure with the same embryological background as that of RMC. Dorsal and transitional types, resulting from primary neurulation failure, therefore, did not have ependymal structures.

A practical clinical classification of spinal neural tube defects.

Current commonly used terminology to describe neural tube defects (NTD) is inconsistent, overlapping, contradictory and, at times, inaccurate making it difficult to convey the nature of the malformation and what needs to be done to optimally treat patients with these congenital abnormalities.NTD can be broadly divided into those that are open with exposed neural tissue and leaking cerebrospinal fluid (CSF) and those that are closed with no exposed neural tissue nor loss of CSF. It appears that the loss of CSF during development is the underlying factor that leads to the entire central nervous system involvement with an open NTD and lack thereof with a closed NTD, wherein only the spinal cord is malformed. There are, however, rare transitional cases that bridge the gap between the two forms.Agreeing on a nomenclature that is used in a standard fashion would be of help in addressing this group of congenital anomalies that have a great deal of variability and, at times, can be quite complex.

Glial fibrillary acidic protein immunopositive neuroglial tissues with or without ependyma-lined canal in spinal lipoma of filar type: Relationship with retained medullary cord.

Background: Retained medullary cord (RMC) and filar lipomas are believed to originate from secondary neurulation failure; filar lipomas are reported to histopathologically contain a central canal-like ependyma-lined lumen with surrounding neuroglial tissue with ependyma-lined central canal (NGT w/E-LC) as a remnant of the medullary cord, which is a characteristic histopathology of RMC. With the addition of glial fibrillary acidic protein (GFAP) immunostaining, we reported the presence of GFAP-positive NGT without E-LCs (NGT w/o E-LCs) in RMC and filar lipomas, and we believe that both have the same embryopathological significance. Methods: We examined the frequency of GFAP-positive NGT, with or without E-LC, in 91 patients with filar lipoma. Results: Eight patients (8.8%) had NGT w/E-LC, 25 patients (27.5%) had NGT w/o E-LC, and 18 patients (19.8%) had tiny NGT w/o E-LC that could only be identified by GFAP immunostaining. Combining these subgroups, 56% of the patients (n = 51) with filar lipoma had GFAP immunopositive NGT. Conclusion: The fact that more than half of filar lipomas have NGT provides further evidence that filar lipoma and RMC can be considered consequences of a continuum of regression failure that occurs during late secondary neurulation.

Intracranial subdural hemorrhage following closed neural tube defect repair: illustrative case.

BACKGROUND: Intracranial subdural hematomas (SDHs) due to intracranial hypotension after pediatric spine surgeries are an uncommon pathology. Such findings have typically been associated with intraoperative durotomies that are complicated by a subsequent cerebrospinal fluid (CSF) leak. OBSERVATIONS: The patient is a 17-year-old boy with a complex past medical history who received an uncomplicated S1-2 laminectomy for repair of his closed neural tube defect (CNTD), cord untethering, and resection of a lipomatous malformation. He returned to the hospital with consistent headaches and a 2-day history of intermittent left-sided weakness. Imaging demonstrated multiple subdural collections without a surgical site pseudomeningocele. LESSONS: The case was unique because there have been no documented cases of acute intracranial SDH after CNTD repair. There was no CSF leak, and spine imaging did not demonstrate any evidence of pseudomeningocele. The authors believed that intraoperative CSF loss may have created enough volume depletion to cause tearing of bridging veins. In younger adolescents, it is possible that an even smaller volume may cause similar effects. Additionally, the authors' case involved resection of the lipomatous malformation and an expansile duraplasty. Hypothetically, both can increase the lumbar cisternal compartment, which can collect a larger amount of CSF with gravity, despite no pseudomeningocele being present.

Do we need to scan the whole neuraxis for coexistent abnormalities in children with surgically treated occult spinal dysraphism?

BACKGROUND: Spina bifida occulta (SBO) is generally known as a benign isolated entity; however, there are ambiguous approaches for neuroaxial screening in cases of symptomatic SBO among institutions. This study aims to demonstrate the infrequency of cranial anomalies associated with symptomatic SBO and inquire the necessity of cranial radiological surveillance in those patients. METHODS: Between 2012 and 2016 pediatric patients who were surgically treated in our clinic due to symptomatic SBO were retrospectively evaluated. All radiological findings in craniospinal evaluation were documented. RESULTS: There were 76 patients with mean age of 5.3 years (range 2 months to 17 years), and female predominance (53 female and 23 male patients). Of those, 64 patients had whole neuroaxis investigation including cranial imaging. Among 64 patients with cranial screening, only two patients had occipital encephalocele and posterior fossa arachnoid cyst. There was neither hydrocephalus nor Chiari malformation in our case series. CONCLUSIONS: We detected high number of additional spinal abnormalities accompanying to symptomatic SBOs, whereas cranial findings rarely coexisted with them. Therefore, we strongly suggest the radiological screening of whole spinal axis in occult spinal dysraphism with significant spinal findings. On the other hand, cranial imaging as a part of neuraxis screening in cases of symptomatic SBOs is not required in all cases; however, it can be done in selected patients where clinically indicated.