Correlation between development of terminal rectal ganglion and spinal cord/sacral abnormalities in boys with complex anorectal malformations / 陆军军医大学学报

Objective To investigate the relationship between the development of terminal rectal ganglion and spinal cord/sacral abnormalities in boys with complex anorectal malformations(ARMs)in order to improve the understanding of rectal ganglion development abnormalities in ARMs patients.Methods A retrospective trial was conducted on the male patients with complex ARMs admitted to our hospital from 2015 to 2021.The terminal rectal specimens were taken from them during anoplasty.According to the findings on development of terminal rectal ganglion after HE staining,the patients were classified into G1 group(ganglion cells observed)and G2 group(no ganglion cells observed).Imaging techniques were used to evaluate whether there were abnormalities in the spinal cord and sacrum,and their correlation with the terminal rectal ganglion development was analyzed.Results A total of 139 patients were enrolled,and their median age at anoplasty was 5.77(4.57,6.97)months.There were no significant differences between the G1(n=80,57.6％)and G2(n=59,42.4％)groups in ARMs pathological type(P=0.706)and age at surgery(P=0.140).Radiological findings showed there were 48 cases(34.5％)of spinal cord anomalies(SCA),25 cases(18.0％)of sacral abnormalities and 18 cases(12.9％)of coccyx abnormalities.No significant differences were observed in the incidences of SCA and sacral abnormalities between the G1 and G2 groups(P＜0.05).Moreover,the differences of fatty filum terminale and syrinx were statistically significant(P＜0.05).In addition,the ratio of sacrum to coccyx between the G1 and G2 groups were 0.72±0.10 vs 0.67±0.12(P＜0.05)of the anteroposterior position and 0.77±0.09 vs 0.72±0.09(P＜0.05)of the lateral position.Multivariate logistic regression analysis showed that sacral abnormalities,fatty filum terminale and syrinx were independent predictors of rectal terminal ganglion absence in male patients with complex ARMs.Conclusion The development of terminal rectal ganglia in male patients with ARMs is closely associated with the abnormalities of spinal cord and sacrum.Sacral abnormalities,fatty filum terminale and syrinx are independent predictors of rectal terminal ganglion absence in male patients with complex ARMs.

Spinal cord anomalies in children with anorectal malformations: a retrospective cohort study.

PURPOSE: First, to assess the number of spinal cord anomalies (SCA), specifically tethered spinal cord (TSC) in patients with anorectal malformations (ARM), identified with spinal cord imaging (i.e. spinal cord US and/or MRI). Second, to report outcomes after TSC treatment. METHODS: A retrospective mono-center study was performed. All ARM patients born between January 2000 and December 2021 were included. Screening for SCA consisted of spinal cord US and/or MRI. Radiology reports were scored on presence of SCA. Data were presented with descriptive statistics. RESULTS: In total, 254 patients were eligible for inclusion, of whom 234 (92.1%) underwent spinal cord imaging. In total, 52 (22.2%) patients had a SCA, diagnosed with US (n = 20, 38.5%), MRI (n = 10, 19.2%), or both US and MRI (n = 22, 42.3%), of whom 12 (23.5%) with simple, 27 (52.7%) intermediate, and 12 (23.5%) complex ARM types. TSC was identified in 19 patients (8.1%), of whom 4 (21.1%) underwent uncomplicated neurosurgical intervention. CONCLUSIONS: SCA were present in 22% of ARM patients both in simple, as well as more complex ARM types. TSC was present in 19 patients with SCA, of whom 4 underwent uncomplicated neurosurgical intervention. Therefore, screening for SCA seems to be important for all ARM patients, regardless of ARM type. LEVEL OF EVIDENCE: Level III.

Spinal cord anomalies in children with anorectal malformations: Ultrasound is a good screening test.

PURPOSE: The purpose of this study is to correlate spinal ultrasound (US) and magnetic resonance imaging (MRI) findings in patients with anorectal malformations (ARMs). METHODS: A retrospective analysis of records was performed for children with ARM presenting to two major pediatric hospitals between 2009 and 2017. The primary outcome analyzed was detection of spinal cord anomalies. Spinal US was performed up to 4 months and MRI within the first year of life. The conus medullaris was considered normal if it had a tapering contour and terminated at or above the Lumbar 2-3 disk space. RESULTS: One hundred ninety-three patients with ARM presented during the study period with a slight male preponderance (108, 56%). Spinal imaging was performed in 157(82%) - 137(87%) had US, 64(41%) had MRI and 44 (28%) had both. Of the 44 who had both; US was abnormal in 25 children-confirmed by MRI in 20 (80%). US was normal in 17 children- MRI showed a filum cyst in 1 and a lipoma in 2 children and was inconclusive in 2 children (p<0.001). All who required surgery except one child, were reported on spinal US to have a low lying cord, borderline low cord or tethered cord (p<.05). No child who was reported to have a normal spinal US required de-tethering at a later stage. Spinal US had an overall sensitivity of 91% and specificity of 75% compared to MRI for detecting spinal cord anomalies in children with ARM CONCLUSIONS: Spinal US performed in a tertiary pediatric imaging department was a good screening test for spinal cord anomalies in children with ARM. The finding of a low, borderline low or tethered cord on US mandates an MRI to confirm the findings and correlates with the need for operative correction of spinal cord tethering. STUDY TYPE: Clinical research paper. LEVEL OF EVIDENCE: 2.

Misdiagnosed adult presentation of diastematomyelia and tethered cord.

Diastematomyelia with tethered cord is an uncommon congenital anomaly that is generally diagnosed in childhood but may rarely present in adulthood, we present the case of a 48-year-old man with diastematomyelia and tethered cord whose diagnosis was initially missed, leading to unnecessary spine surgery. The correct diagnosis was made from follow-up imaging. Because common clinical complaints such as back pain may be caused by unusual conditions, the authors suggest that radiologists and treating physicians should remain vigilant for unusual presentations of rare diseases.

Anorectal malformations associated spinal cord anomalies.

PURPOSE: The present study aims to identify clinical and pathological factors that can predict the risk of spinal cord anomalies (SCA) in patients with anorectal malformations (ARM), the need for neurosurgery, and to define the impact of SCA on the outcome of patients with ARM. METHODS: A 16-year retrospective analysis of all patients treated at a single tertiary children's Hospital with diagnosis of ARM. Data were collected to assess the impact of defined clinical characteristics on prevalence of SCA (detected at MRI). Children surgically treated or not for SCA were compared for age, clinical symptoms and type of anomalies at surgery or at last follow-up, respectively. Moreover, patients with intermediate/high ARMs, with or without SCA were compared for neurogenic bladder (NB), constipation, soiling and need for bowel management (BM). RESULTS: Two hundred and seventy-five children were treated for ARM in the study period, 142 had spinal MRI that showed SCA in 85. Patients with SCA had significantly higher prevalence of preterm birth (p < 0.05), cardiac anomalies (p = 0.02), vertebral anomalies (p = 0.0075), abnormal sacrum (p < 0.0001), and VACTERL association (p = 0.0233). Ten patients were surgically treated for SCA. The prevalence of neurological bladder and neuro-motor deficits, of vertebral and genital anomalies, particularly cryptorchidism, was significantly higher in the operated group (p < 0.01, for each analysis). In patients with intermediate/high ARMs, no significant difference was observed between those with or without SCA, in terms of prevalence of NB, intestinal function and need for BM. CONCLUSIONS: In patients with ARM, factors that can predict a higher prevalence of SCA and also determine an increased indication to neurosurgery may be identified. SCA by itself does not seem to affect the functional prognosis of children with intermediate/high ARM. These data may help physicians in stratifying the clinical and diagnostic pathway of patients with ARM.