Cervical saccular limited dorsal myeloschisis, so-called "cervical myelomeningocele": long-term follow-up of a single-center series and systematic review.

OBJECTIVE: Cervical saccular limited dorsal myeloschisis (LDM), previously so-called "cervical myelomeningocele," is a rare spinal dysraphism. Although the pathogenesis of true myelomeningocele is primary neurulation failure, LDM results from a delayed abnormality during the final stages of neurulation. The aim of the study was to evaluate the outcome of these patients and to assess the correlation of outcomes with the level and type of lesion. Also, pooled data from the literature on similar lesions were systematically reviewed. METHODS: A retrospective study was conducted at Children's Medical Center (CMC), Tehran, Iran. Information of patients who underwent surgery between 2004 and 2020 (i.e., the recent series) was extracted and combined with data from a previously published series from the same center that were obtained between 2000 and 2003 (CMC series). The literature was reviewed for all published cases, to be combined with the CMC series for further analyses. RESULTS: Twenty-two patients were included in the recent series. Combined with 16 previously published cases, 38 patients with a mean ± SD age at surgery of 11.75 ± 28.64 months were included in the CMC series. The rates of neurological deficit, hydrocephalus, and Chiari malformation type II in the CMC series were 26.32%, 39.47%, and 28.95%, respectively. The lesions were at the upper levels in 17 (44.7%) and lower cervical levels in 21 (55.3%) patients, with 31 cases (81.58%) diagnosed with stalk-type lesions and 7 cases (18.42%) with myelocystocele-type lesions. At final follow-up, 31 patients (81.57%) achieved sphincter continence, and all 36 accessible patients were ambulated, consisting of 28 (73.68%) independent and 8 (21.05%) dependent ambulation patients. The rates of Chiari malformation type II and hydrocephalus were insignificantly higher in patients with upper-level lesions, but those of neurological deficit, ambulation, and sphincter continence were not associated with level. The rates of hydrocephalus (p < 0.01), Chiari type II malformation (p < 0.01), and neurological deficit (p = 0.04) were significantly higher in the myelocystocele group. In the systematic review, 24.77% of patients had neurological deficit. Binary logistic regression showed that older age at surgery (p = 0.03) and associated spinal anomalies (p = 0.04) were significant predictors of deficits. Chiari type II malformation was significantly (p < 0.001) and hydrocephalus was marginally (p = 0.06) more common in patients with myelocystocele-type lesions. The rate of Chiari malformation type II was higher in patients with upper-level lesions (p = 0.02). CONCLUSIONS: Patients with cervical saccular LDM had better outcome compared with those patients with true myelomeningocele in more distal areas. According to the current series, most patients obtained ambulation and voiding continence, regardless of the level or type of lesion. Hydrocephalus, Chiari type II malformation, and neurological deficit were more common in patients with myelocystocele-type lesions.

Management of post-surgical faecal incontinence due to anorectal malformations by pelvic floor rehabilitation.

AIM: Many patients with anorectal malformations (ARM) experience a long-lasting problem with faecal incontinence (FI). We assessed the effectiveness of a pelvic floor rehabilitation program including transcutaneous functional electrical stimulation (TFES) in combination with pelvic floor muscle (PFM) exercises on post-surgical FI in children with ARM. METHODS: Data of 40 children at the age of 4 years or older who had undergone surgical correction for ARM and suffered from persistent FI referring for pelvic floor rehabilitation were analysed respectively. Patients underwent TFES and PFM exercises for 20 sessions. TFES was applied for 20-min during each session, two times a week. A paediatric FI score questionnaire and a bowel habit diary were completed both before and after the treatment for all children. We completed a FI quality of life questionnaire before the therapy and again after treatment for all patients. RESULTS: Twenty-two out of 40 (55%) patients responded completely to the treatment (100% reduction in FI episodes) after the completion of treatment sessions, sustained in 19/40 (47.5%) patients after 6 months. Mean ± SD of FI score was 4.9 ± 3.6 at baseline that significantly reduced to 2.4 ± 1.3 and 2.4 ± 1.8 after completion of treatment sessions and 6 months later, respectively (P < 0.05). CONCLUSIONS: Our results show that TFES and PFM exercises have a considerable beneficial impact on post-surgical FI in children with ARM.

Evaluating the value of different sonographic findings in diagnosis of acute appendicitis in children.

INTRODUCTION: Appendicitis is one of the most common paediatric surgical emergencies occurring in about 7% of healthy children. To make a definitive diagnosis preferably avoiding unnecessary X-ray radiation exposure, ultrasound is the ideal modality. The aim of this study is to evaluate the diagnostic value of sonographic findings in children with acute appendicitis and comparing them with surgical findings to demonstrate the safety, simplicity and accuracy of this procedure in emergency departments as the first diagnostic procedure. MATERIALS AND METHODS: One hundred and eight children aged 1-15 years suspected of acute appendicitis in our tertiary hospital emergency department enrolled the study. Patients presenting as acute abdomen suspected as having acute appendicitis underwent abdominal ultrasonography (US) at first. Sonographic findings were compared to surgical and pathologic results, and sensitivity and specificity of each sonographic parameter in paediatric appendicitis were evaluated. RESULTS: The analysis of sonographic results showed that 67.6% of patients had acute appendicitis, 13.9% had perforated appendicitis and 18.5% had normal appendix. On the other hand, there were acute appendicitis in 63.9% of patients, perforated appendicitis in 12% and normal appendix in 8.3% in surgical reports. Sensitivity of uncompressible appendicitis, appendicitis, maximal outer diameter (MOD) above 6 mm, maximal mural thickness (MMT) above 3 mm, round appendix was 98.68%, 28.04%, 94.74%, 61.84% and 68.42%, respectively. Specificity of incompressible appendicitis, appendicitis, MOD above 6 mm, MMT above 3 mm, round appendix was 64.71%, 96.15%, 64.71%, 82.35% and 94.12%, respectively. Overall sensitivity and specificity of US in appendicitis were 97.56% and 69.23%, respectively. CONCLUSION: According to the findings of this study, sensitivity of US in diagnosing appendicitis is higher than other studies, but its specificity was lower. Ultrasonographic accuracy and efficacy to diagnose acute appendicitis in children are high enough to allow clinicians to do it as an imaging modality of first choice, and also, in problematic cases to assist correct clinical diagnosis avoiding unnecessary X-ray exposure, decreasing negative appendectomies, decreasing perforation rate and lowering the cost of patients. Furthermore, negative US do not justify immediate computed tomography because clinical re-evaluation and a second US can help greatly the clinicians in the correct diagnosis.

Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance.

IMPORTANCE: Pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND) is a monogenic autoinflammatory disorder with autosomal dominant inheritance and has been associated with monoallelic p.Ser242Arg and p.Glu244Lys variations in the MEFV gene. This dermatosis shares clinical features and pathogenesis with familial Mediterranean fever, although it is a clinically distinct entity. OBJECTIVE: To identify the genetic basis of PAAND in a consanguineous family with 2 affected children and to prescribe an effective genotype-guided treatment. DESIGN, SETTING, AND PARTICIPANTS: This case series study examined 2 siblings who presented with clinical features of PAAND. We sought the genetic basis of this disease with trio whole exome sequencing (trio-WES). Genome-wide homozygosity mapping provided additional evidence for causality of a sequence variant identified by trio-WES. MAIN OUTCOMES AND MEASURES: Association of a biallelic MEFV variation with a new form of autosomal recessive PAAND was documented by genetic analysis. Response to treatment with colchicine and a low-dose steroid was assessed clinically and experimentally. RESULTS: Two siblings, a girl (proband; age 5 years) and a boy (age 2.5 years) of Iranian-Azeri ancestry born to first-cousin consanguineous parents presented with clinical features of PAAND-recurrent episodes of maculopapular and pustular rash, gastrointestinal involvement resembling inflammatory bowel disease, and intussusception with generalized mesenteric lymphadenitis. A trio-WES test detected a previously unreported homozygous missense variation, p.Ser242Gly, in both patients' MEFV gene. Genome-wide homozygosity mapping revealed shared regions of homozygosity in the patients' DNA, including 1 on chromosome 16 harboring MEFV. Whole transcriptome sequencing by RNA-sequencing revealed that the variant MEFV transcript, among the inflammasome-associated transcripts, was most upregulated, and the cell-cell receptor interaction and innate immune system pathways were most positively enriched. Under the guidance of MEFV genotype, treatment with colchicine (1 mg/d) and low-dose prednisolone (2.5 mg every other day) was started, and the patients responded well. CONCLUSIONS AND RELEVANCE: This case series study demonstrated successful genotype-guided treatment with colchicine and low-dose prednisolone, a low-cost therapeutic option with minimal adverse effects, in patients with a novel form of autosomal recessive PAAND. This case report examines the genetic basis of PAAND in a consanguineous family with 2 affected children and seeks to prescribe an effective genotype-guided treatment.

Large intrathoracic lipoblastoma.

Lipoblastoma is a rare benign tumor of primitive white fat in children, which usually involves the trunk and extremities. It rarely involves retroperitoneum, head, neck, and mediastinum. Herein, the authors introduce a rare presentation of lipoblastoma as a large intrathoracic mass.

What is the appropriate aganglionic bowel length on contrast enema for attempting single stage transanal endorectal pull-through in Hirschsprung disease?

PURPOSE: To identify influence of different values of age and abnormal bowel length in HD patients selected for single stage TERPT which affects the technique of surgery. METHODS: This observational study was carried out for over 2.5 years. All children younger than 14 years old with clinical suspicion for HD, typical transitional zone (TZ) on contrast enema (CE) distal to splenic flexure, preoperative diagnosis approved by full thickness biopsy, no previous surgical history and no urgency were included. The distance between the anus and TZ was considered as aganglionic length on CE. Biopsy was taken from distal to proximal of resected bowel to reach circumferentially normal innervated bowel. Paired sample Student's t-test, Pearson correlation test, receiver operating characteristic (ROC) analysis were performed. RESULTS: Forty-eight patients were enrolled in this study. Measured mean for aganglionic bowel length on CE and pathology were 33.5 ±â€¯17.1 cm and 56.8 ±â€¯33.5 cm, respectively (p < 0.01). Correlation coefficient (R) and coefficient of determination (R2) were 0.632 and 40%, respectively (p < 0.01). The difference between radiologic and pathologic measurements in females was higher than males (mean: 29.3 vs 21.9 cm) but was not statistically significant (p = 0.75). There was statistically significant difference between CE and pathologic results in the infants younger than 10 months (p = .004). Abnormal bowel length equal to 52 cm predicted requirement of laparoscopy assistance/laparotomy with 75% sensitivity and 85% specificity. CONCLUSION: Our investigation showed it is safe to attempt for single stage TERPT when aganglionic length on CE is less than 52 cm and the child with HD is older than 10 months. Chance of requiring additional laparotomy or laparoscopy assistance is low in these patients. TYPE OF STUDY: Study of diagnostic test. LEVEL OF EVIDENCE: Level II.

Abdominal Mass Caused Failure to Thrive in a Young Boy: Mixed-Type Localized Retroperitoneal Castleman Disease.

Castleman disease is a rare cause of retroperitoneal mass in children. Clinical presentation and laboratory findings are usually nonspecific. Imaging shows features of a hypervascular or soft tissue mass. We present a 12-year-old boy who complained of frequent colds, fatigue, and failure to gain weight for the past 4 years who was referred to our hospital. Anemia and hypergammaglobulinemia were revealed in laboratory tests. Imaging showed a well-delineated retroperitoneal soft tissue mass with intense homogenous enhancement at the midline below the aortic bifurcation. The histopathological features were consistent with mixed type unicentric Castleman disease. Surgical removal was curative. Our patient's hematological abnormalities resolved, and he gained 10 kg in the next 4 weeks after the operation and reached the 25-50th percentile for his age.

Suprahepatic space as an alternative site for distal catheter insertion in pseudocyst-associated ventriculoperitoneal shunt malfunction.

OBJECTIVE: Distal catheter malfunction due to pseudocyst formation or intraabdominal adhesion is a significant problem, especially in pediatric patients who have limited sites for distal catheter insertion. In this study, the authors present a series of 12 patients with intractable distal shunt malfunctions due to peritoneal pseudocyst formation who underwent distal catheter replacement in the suprahepatic space to reduce the risk of distal catheter malfunction. METHODS: Twelve consecutive patients with shunt malfunction due to pseudocyst formation who had undergone ventriculosuprahepatic shunting from 2014 to 2019 were identified. According to medical records, after primary evaluations, shunt removal, and antibiotic therapy, they underwent revision surgeries with placement of a distal catheter into the suprahepatic space. RESULTS: Nine boys and 3 girls, ranging in age from 5 months to 14 years, with one or more episodes of pseudocyst formation, underwent shunt revision with placement of a distal catheter into the suprahepatic space. After a median follow-up of 31 months, none of the patients experienced further distal malfunction. CONCLUSIONS: The suprahepatic space appears to be a safe place to secure the distal end of a ventricular catheter following pseudocyst formation, with less risk of re-adhesion. This lower risk might be attributable to the lack of omentum in the suprahepatic space.

Early oral feeding versus traditional feeding after transanal endorectal pull-through procedure in Hirschsprung's disease.

Our study questioned whether the outcome of postoperative early oral feeding is different from traditional postoperative feeding in children with Hirschsprung's disease who underwent transanal endorectal pull-through.This was an observational and comparative study. Patients were allocated into 2 groups. Age, gender, fever, surgery-related infectious, abdominal distension, bowel obstruction, need for reoperation, peritonitis, anastomosis leak, and abscess formation were assessed. IV fluids and antibiotics usage were recorded. A Chi-square test, independent sample unpaired Student t test and Mann-Whitney test were used. P-value < .05 was considered statistically significant.Infections occurred in no patient in group 1 and 1 patient in group 2. Stenosis occurred in 3 patients in group 1 and 2 patients in group 2. Abdominal distension occurred in 4 patients in group 1 and 3 patients in group 2. Fever occurred in 2 patients in group 1 and 1 patient in group 2 within the first 24 hours and it occurred in 13 and 17 patients, respectively, within 48 hours. All patients of group 1 (n = 15) were treated with antibiotics and intravenous fluid administration; 1 patient for 24 hours, 12 patients for 48 hours, and 1 for 72 hours, respectively. All patients of group 2 (n = 18) were treated with antibiotics and intravenous fluid administration for 5 days. We noted a significant difference regarding the duration of antibiotic treatment and intravenous fluid administration after 72 hours.This study showed that there was no difference between the outcomes of early and traditional postoperative feeding. Due to a significant difference in the antibiotics and IV fluid administration intervals between these 2 groups which cause a prolonged hospital stay and higher costs, it seems that early postoperative feeding is superior to traditional strategy.

A comparative study of transcutaneous interferential electrical stimulation plus behavioral therapy and behavioral therapy alone on constipation in postoperative Hirschsprung disease children.

PURPOSE: We assessed the effectiveness of transcutaneous interferential (IF) electrical stimulation on constipation in postoperative Hirschsprung's disease (HD) patients. METHODS: Thirty HD children (18 boys and 12 girls) with constipation who had no surgical complication were enrolled and then randomly divided into two treatment groups. The control group underwent only behavioral therapy comprising high fiber diet, hydration, toilet training and pelvic floor muscles exercises while; the IF group underwent behavioral therapy plus IF electrical stimulation. Patients underwent anorectal manometry before and 6months after the treatment. In addition, a complete bowel diary with data on the frequency of defecation per week, stool form and the number of fecal soiling episodes, a constipation score and a visual pain score were obtained from all patients before, after treatment and 6months later. RESULTS: Constipation symptoms were improved in 10 (66%) and 4 (26.6%) patients in IF and control groups, respectively at 6months of follow up (P<0.03). Frequency of defecation per week significantly increased after the treatment in the IF group compared with control group at the 6months of follow up (5.4±2.1 vs. 3.3±1.8 per week, respectively; P<0.009). In addition, mean pain score was significantly decreased in IF group compared with controls after treatment (P<0.05). CONCLUSION: IF electrical stimulation is an effective adjunct to behavioral therapy to overcome symptoms of constipation in postoperative HD patients.

Intrasphincteric botulinum toxin injection in treatment of chronic idiopathic constipation in children.

OBJECTIVE: Injection of botulinum toxin into the anal sphincter is a novel and safe new treatment of chronic idiopathic constipation and anal fissure in children. The purpose of this study was to determine the utility of intra sphincteric injection of botox in the treatment of children with refractory constipation. METHODS: All children who suffered from chronic constipation for more than three months, and who had not responded to medical treatment, were referred to pediatrics surgical clinic for surgical intervention by pediatric gastroenterologist. The patients were randomly divided into cases and control group. The control group received no injection and was only treated with stool softeners. The case group received this therapy in addition to injection. After the botox injection, patients were asked about the presence of the signs of constipation including painful defecation, vomiting, stool consistence, soiling and defecation interval. FINDINGS: Defecation of painful stool existed in 88% of patients before botox injection and it was reduced to 15% after botox injection. In the control group, 90% of patients had painful defecation, which reduced to 86% after medical treatment (P=0.0001). Stool was hard in 80% of patients before was reduced to 28% after botox injection. In the control group, it existed in 81% of children and reduced to 78% after medical treatment (P=0.0001). Soiling existed in 62% of patients before and was reduced to 8% after botox injection, but in the control group it reduced from 62% to 42.5% after medical treatment (P=0.0001). In the control group, 98% of the patients had defecation intervals more than 3 days and it was the same after medical treatment. In case group, this index before botox injection was 9.1 days, and after botox injection was reduced to 2.6 days (P=0.0001). CONCLUSION: Our study results showed that injection of botulinum toxin into anal sphincter is an effective and safe new treatment of chronic idiopathic constipation in children.