Periventricular nodular heterotopia is related to severity of the hindbrain deformity in Chiari II malformation

Background

Knowledge of the occurrence of malformations of cortical development (MCDs) and its relationship to hindbrain deformity in Chiari II malformation (CIIM) is limited.

Objective

To assess malformations of cortical development and its relationship to hindbrain deformity regarding Chiari II malformation.

Materials and methods

Brain and cervical spinal MRI from 66 children (age range, 1-256?days; mean age, 22.3?days) with Chiari II malformation were retrospectively reviewed. If present, the type, number and location of malformations of cortical development were recorded. Hindbrain deformity was assessed for the level of the medullary kink, the descent of the pons and the shape of the fourth ventricle; these parameters were compared in children with and without malformations of cortical development.

Results

Twenty children with malformations of cortical development were identified. Only periventricular nodular heterotopia was noted. The median level of the medullary kink was significantly lower in children with malformations of cortical development compared with children without it (P?=?0.037). A low pontomesencephalic junction was identified more frequently in children with malformations of cortical development (65.0%), relative to children without malformations of cortical development (34.8%) (P?=?0.045). The fourth ventricular shape was not significantly different in children with or without malformations of cortical development (P?=?0.684).

Conclusion

Periventricular nodular heterotopia was seen in a relatively high proportion of children with Chiari II malformation, suggesting that it may be associated with severe hindbrain deformity.     

Chiari type I malformation in children

We reviewed the recent experience at Texas Children's Hospital by examining the records of 11 children who underwent suboccipital decompression for symptomatic Chiari type I malformation. Presenting complaints included neck pain (1 child), scoliosis (4 children), back pain (1 child), torticollis (1), motor dysfunction (1), and apnea (3 children). Neurologic findings were normal in 7 of the 11 children. The craniocervical junction and medulla were studied by magnetic resonance imaging, which revealed anatomy consistent with Chiari type I malformation in all cases. At surgery, all patients had tonsillar herniation to the first cervical vertebra or below. Three patients had syringomyelia. Postoperatively, either the patients were symptom free or, in the cases of scoliosis and torticollis, there was no progression. Our experience suggests that Chiari type I malformation may occur in childhood with varied and unusual clinical findings. Magnetic resonance imaging was essential to the diagnosis; the presence of tonsillar herniation was confirmed at surgery. The results of suboccipital decompression were favorable in this series.     

Toward a simpler surgical management of Chiari I malformation in a pediatric population.

A wide variety of surgical adjuvants to the standard bony decompression have been advocated in the treatment of the Chiari I malformation, especially when the tonsillar herniation is associated with hydrosyringomyelia. These include various shunting procedures, duroplasty, obex plugging, and resection of the cerebellar tonsils. Our practice has been to avoid these adjuvants and to perform a simple limited occipital craniectomy, C1 laminectomy, and dural opening. The dura mater is left open and overlain with oxidized cellulose. To evaluate the efficacy of this more limited procedure, a retrospective review was performed of the medical records of 31 consecutive patients treated over a 6-year period. Twenty-six (84%) of these patients had an associated spinal cord syrinx; all underwent the same procedure. The follow-up period ranged from 15 to 93 months, with all patients having at least one postoperative magnetic resonance imaging at 6 months. Twenty-three of the 26 patients (88%) who presented with a syrinx had significant resolution of the syrinx on follow-up scans with concomitant improvement of presenting signs and symptoms. Of the remaining 3 patients, 1 had progressive hydrocephalus and received a ventriculoperitoneal shunt, with symptom resolution. In the other 2 patients the syrinx did not diminish; both received syringopleural shunts. Postoperative morbidity includes a 26% incidence of headaches, of which half resolved within 5 days, and only 1 persisted beyond 2 weeks. Nausea and vomiting occurred in 16%. Neither of these figures significantly exceeds those of other large surgical series in which the dura mater was closed with a patch graft. Three patients (10%) did have a postoperative cerebrospinal fluid leak; all responded to bedside suturing without further sequelae. This study indicates that a simple bone removal and open dural decompression of the cervicomedullary junction is a safe, effective operative treatment for Chiari I malformation in children. Shunts, duroplasty, obex plugging, and tonsillar resection offer no benefit regarding the outcome when our series is compared to others in which such adjuvants were used.     

MRI findings in patients with defecatory dysfunction after surgical correction of anorectal malformation

Background

Postoperative anorectal malformation patients frequently have defecatory dysfunction. MRI may be useful in the management of these patients.

Objective

To analyze static and dynamic MRI findings in patients with defecatory dysfunction after correction of anorectal malformation (ARM), and compare differences between patients with constipation and fecal incontinence.

Materials and methods

Pelvic MRI studies of 20 constipated and 32 incontinent postoperative ARM patients were analyzed retrospectively to determine the location and morphology of the neorectum, presence of peritoneal fat herniation, presence of scarring, development of the striated muscle complex (SMC) and any other abnormalities. The two groups were then compared using χ ²-test. Eighteen patients also underwent MRI defecography to evaluate pelvic floor function and abnormalities are reported.

Results

The children with incontinence were more likely to have abnormal location of the neorectum (P = 0.031), increased anorectal angle (ARA) (P = 0.031) and peritoneal fat herniation (P = 0.032), and less likely to have dilation of the neorectum (P = 0.027), than the children with constipation. There were no significant differences between the two groups in incidence of focal stenosis of the neorectum (P = 0.797), presence of extensive scarring (P = 0.591) and developmental agenesis of the SMC (P > 0.05). MRI defecography showed 6 anterior rectoceles, 6 cystoceles and 18 pelvic floor descents.

Conclusions

MRI is a helpful imaging modality in postoperative ARM patients with defecatory dysfunction, and it shows distinct differences between the children with constipation and incontinence and provides individualized information to guide further treatment.     

Synovial arteriovenous malformation masquerading as arthritis

Background

Synovial arteriovenous malformation is rare.

Case characteristics

We present three children with recurrent monoarthritis secondary to synovial arteriovenous malformation.

Outcome

Two children underwent excision of arteriovenous malformation. Another child had diffuse arteriovenous malformation, which was inoperable.

Message

Synovial arteriovenous malformations should be considered in the differential diagnosis of monoarthritis, especially of the knee.

     

Comparison of MR and fluoroscopic mucous fistulography in the pre-operative evaluation of infants with anorectal malformation: a pilot study

Background

Anorectal malformations are often associated with rectal pouch fistulas. Surgical correction requires accurate evaluation of the presence and position of such fistulas. Fluoroscopy is currently the chosen modality for the detection of fistulas. The role of MRI is unexplored.

Objective

To compare the diagnostic accuracy of MR versus fluoroscopic fistulography in the pre-operative evaluation of infants with anorectal malformation.

Materials and methods

We conducted a pilot study of infants requiring defunctioning colostomy for initial management of anorectal malformation. Dynamic sagittal steady-state free-precession MRI of the pelvis was acquired during introduction of saline into the mucous fistulas. Findings were compared among MR fistulography, fluoroscopic fistulography and intraoperative inspection.

Results

Eight children were included. Median age at fistulography was 15 weeks, inter-quartile range 13–20 weeks; all were boys. There was full agreement among MR fistulography, fluoroscopic fistulography and surgical findings.

Conclusion

The pilot data suggest that MR fistulography is promising in the pre-operative evaluation of children with anorectal malformation.     

Prevalence of radiographic semicircular canal dehiscence in very young children: an evaluation using high-resolution computed tomography of the temporal bones

Background

Previous studies suggest that semicircular canal dehiscences (SCDs) have a developmental origin.

Objective

We hypothesized that if SCDs originate during development, incidence of radiographic SCDs in young children will be higher than in adults.

Materials and methods

Thirty-four temporal bone HRCTs of children younger than 2?years and 40 temporal bone HRCTs of patients older than 18?years were reformatted and re-evaluated for presence of SCD or canal thinning. Results were compared with indications for HRCT and clinical information.

Results

SCDs were detected in 27.3% of children younger than 2?years of age (superior, 13.8%; posterior, 20%) and in 3% of adults (P? <?0.004). Of children with one radiographic dehiscence, 55.6% had multiple and 44% had bilateral SCDs on HRCT. No lateral canal SCDs were present. Thinning of bone overlying the semicircular canals was found in 44% of children younger than 2?years and 2.5% of adults (P?<?0.0001).

Conclusion

SCDs are more common on HRCTs of very young children. This supports the hypothesis that SCDs originate from discontinuation of bone deposition/maturation. However, SCDs on imaging do not necessarily correlate with canal dehiscence syndrome and should therefore be interpreted carefully.     

The position of the conus medullaris in children with a Chiari I malformation

The purpose of this study is to determine whether there is a relationship between the conus level and patients with a Chiari I malformation. This retrospective MRI study evaluated conus levels and degrees of tonsillar ectopia in 26 children ages 5-16 years with a Chiari I malformation. Our results show that there seems to be no relationship between the conus level and the amount of tonsillar ectopia that a child with a Chiari I malformation might have. In fact, there seemed to be an inverse relationship between these two entities. Interestingly, we have also found that of all coni located at the L2-L3 disc space or below, these patients had a syrinx associated with their Chiari I malformation and that all malformations without a syrinx had a 'normally' positioned conus medullaris.     

Bone health in children with long–term idiopathic subclinical hypothyroidism

Background

Previous Italian paediatric blood pressure (BP) tables overestimated the prevalence of hypertension in adolescents of specific geographic areas, such as Sardinia, an island in the Mediterranean Sea. This is probably due to a not very homogeneous distribution of the subjects studied, most from Middle and Northern Italy, and the long period from the survey.

Methods

BPs were repeatedly measured over a period of 3 years in 839 children (52.6% males. Age range: from 11 to 14 years during this period), using a standard mercury sphygmomanometer. For each gender, the specific percentile curves of systolic and diastolic BP were constructed.

Results (corrected by the 50^th percentile of height)

Males (11-14 years)

mean systolic BP (50^th centile): from 111 to 115 mmHg. Hypertensive systolic BP (> 95^th percentile): from 127 to 135 mmHg. Mean diastolic BP (50^th centile): from 65 to 69 mmHg. Hypertensive diastolic BP (> 95^th percentile): from 78 to 82 mmHg.

Females(11-14 years)

mean systolic BP (50^th centile): from 110 to 112 mmHg. Hypertensive systolic BP (> 95^th percentile): from 127 to 130 mmHg. Mean diastolic BP (50^th centile): from 65 to 67. Hypertensive diastolic BP (> 95^th percentile): from 78 to 80 mmHg.

Conclusions

Sardinian BP tables emphasizes the need to integrate the previous standards with more up-to-date and representative reports on Italian children, as periodically performed in the USA, in order to increase the number of subjects to be checked, and to obtain a national coverage better and more completely representative of every geographic area of our country.     

Fecal and urinary continence after scope-assisted anorectovaginoplasty for female anorectal malformation

Aim

We assessed continence after scope-assisted anorectovaginoplasty (SARVP) for female anorectal malformation (FARM).

Methods

Five FARM cases were assessed; cases 1 and 2: cloacal malformation; case 3: urogenital sinus, and rectovestibular fistula (RF); case 4: RF, absent vagina, and sacral anomaly; case 5: covered cloacal exstrophy. Treatment was SARVP in all cases, with perineal vaginoplasty (case 1), vagina pull-through (PT) similar to Georgeson’s colon PT (case 2), and the use of the native RF/cloaca channel as a vagina (cases 3–5). Continence was assessed pre and postoperatively.

Results

SARVP was performed in the lithotomy position without repositioning. Mean age at surgery was 3.2 (1.7–5.5) years. Current mean age: 8.8?years (range 7.5–12.2). Mean follow-up: 5.7?years. Preoperative continence: fecal: all had stomas; urinary: cases 1 and 2: continent; cases 3–5: incontinent. Postoperative continence: fecal: cases 1–3: continent; case 4: incontinent; case 5: awaiting stoma closure; urinary: cases 1 and 2: continent; cases 3 and 4: incontinent; case 5: continent (intermittent catheterization). Fetal continence evaluation questionnaire (CEQ) scores for cases 1–4 were 7.5, 9, 10, and 2 (maximum score 10, mean 7.1).

Conclusion

Scope assistance improves visualization, thus pelvic sphincter dissection/division is minimized with less detrimental impact on postoperative continence.     

Spontaneous resolution of Chiari malformation Type I in monozygotic twins

The spontaneous resolution of isolated tonsillar ectopia in Chiari malformation Type I (CM-I) is a known and reported entity in 2 previous single study case reports. However, it has not been previously described in monozygotic twins. Two children, approximately 1 year of age with CM-I and presumed episodes of pallid syncope or breath-holding spells presented for neurosurgical evaluation. Although Chiari decompression was considered, the authors decided to proceed with conservative management with close follow-up due to the uncertain nature of these episodes. Approximately 4 years later, both children's symptoms had resolved. Repeated MR imaging examinations also showed spontaneous resolution of the malformation in both girls. These cases emphasize that when patients with CM-I present with atypical symptoms, spontaneous resolution or improvement is possible, which may influence the decision to pursue a trial of nonsurgical management. The possible pathophysiological mechanisms and genetic influences of CM-I are also briefly discussed.     

Wide variation in anal sphincter muscles in cases of high- and intermediate-type male anorectal malformation

Purpose

The distribution of sphincter muscle complex in anorectal malformation (ARM) needs to be investigated on a case-by-case basis. This study was undertaken to demonstrate the differences in the anal sphincter muscles between patients with the same type of ARM. Computed tomography (CT) data from cases of high- and intermediate-type male patients with ARM were reviewed using three-dimensional (3D) image analysis.

Materials and methods

Twenty-seven male patients with ARM (18 high and 9 intermediate) before anorectoplasty were assessed using multidetector-row helical CT (MRH-CT). A 3D reconstruction was made using volume rendering method. The multi-dimensional sections of the 3D reconstructed images of the pelvic muscles were then analyzed and compared with schematic drawings from the literature.

Results

The sphincters in the high and intermediate types of ARM could be divided into five groups. In 13 out of 18 cases in the high type and 7 out of 9 cases in the intermediate type, images of the sphincter muscles appeared different from schematic drawings appearing in the literature.

Conclusion

In both high and intermediate types of ARM, more than 2/3 of cases demonstrated unexpectedly displaced and deformed hypoplastic sphincters. Therefore, we recommend that variations in anal sphincter should be investigated on an individual basis prior to surgery.     

Cloacal malformation variants in male

Objective

The published surgical literatures have referred only to females as having cloacal defects and the incidence in males is not well established. As during embryogenesis, both sexes have to pass through the stage of a cloaca, there is every chance of development of cloacal anomalies in males also. Here, we are presenting our experience of male cloacal malformations.

Methods

We identified four cases of male cloaca by reviewing medical records of all anorectal malformation (ARM) patients treated at our institution in the past 19 years. Time of presentation, clinical, radiological, cystoscopic and operative findings, and outcomes were analysed.

Results

Out of 1,837 patients, we identified four cases (0.2 %) of male cloacal variants. All presented after 45 days (range 46 days to 28 years). Three of them had proximal hypospadias, two had a vaginal remnant and cystoscopic evaluation showed the length of the common channel ranged from 0.5 to 8 cm. One patient died of multiple anomalies and the other patients are doing well following reconstruction.

Conclusion

None of the male cloacal patients presented in the neonatal period, proximal hypospadias was the common external genital abnormality and half of them had a vagina. Surgical outcome was satisfactory. The scarcity of reported cases of this group is a subject of further research.     

Complex Chiari malformations in children: an analysis of preoperative risk factors for occipitocervical fusion

Object Chiari malformation Type I (CM-I) is a congenital anomaly often treated by decompressive surgery. Patients who fail to respond to standard surgical management often have complex anomalies of the craniovertebral junction and brainstem compression, requiring reduction and occipitocervical fusion. The authors hypothesized that a subgroup of "complex" patients defined by specific radiographic risk factors may have a higher rate of requiring occipitocervical fusion. Methods A retrospective review was conducted of clinical and radiographic data in pediatric patients undergoing surgery for CM-I between 1995 and 2010. The following radiographic criteria were identified: scoliosis, syringomyelia, CM Type 1.5, medullary kinking, basilar invagination, tonsillar descent, craniocervical angulation (clivoaxial angle [CXA] < 125°), and ventral brainstem compression (pB-C2 ≥ 9 mm). A multivariate Cox regression analysis was used to determine the independent association between occipitocervical fusion and each variable. Results Of the 206 patients who underwent CM decompression with or without occipitocervical fusion during the study period, 101 had preoperative imaging available for review and formed the study population. Mean age at surgery was 9.1 years, and mean follow-up was 2.3 years. Eighty-two patients underwent suboccipital decompression alone (mean age 8.7 years). Nineteen patients underwent occipitocervical fusion (mean age 11.1 years), either as part of the initial surgical procedure or in a delayed fashion. Factors demonstrating a significantly increased risk of requiring fusion were basilar invagination (HR 9.8, 95% CI 2.2-44.2), CM 1.5 (HR 14.7, 95% CI 1.8-122.5), and CXA < 125° (HR 3.9, 95% CI 1.2-12.6). Conclusions Patients presenting with basilar invagination, CM 1.5, and CXA < 125° are at increased risk of requiring an occipitocervical fusion procedure either as an adjunct to initial surgical decompression or in a delayed fashion. Patients and their families should be counseled in regard to these findings as part of a preoperative CM evaluation.     

Comparing beneficial effects of inhaled nitric oxide to l-arginine in necrotizing enterocolitis model in neonatal rats

Objective

Necrotizing enterocolitis (NEC) is a common and devastating gastrointestinal condition of neonatal infants. The pathophysiology of NEC remains poorly understood. We tried to evaluate the effectiveness of inhaled NO compared to l-arginine usage in necrotizing enterocolitis model in rats.

Material-methods

46 newborn pups from 4 time-mated Sprague-Dawley pregnant rats were divided equally into 4 groups as follows: NEC (subjected to NEC), NEC?+?l-arginine, NEC?+?inhaled NO and control.

Results

SOD, GSH-Px and NOx levels were significantly higher and MDA levels were significantly lower in NEC?+?inhaled NO group compared to NEC?+?l-arginine group. There was significantly lower intestinal injury and apoptosis index scoring in NEC?+?inhaled NO group compared to NEC?+?l-arginine group.

Conclusion

We think that inhaled NO can be used as a novel therapeutic agent like l-arginine in NEC, like using in pulmonary hypertention in newborns but much more studies are needed.     

Asymmetry of tonsillar ectopia in Chiari I malformation

There has been almost no evaluation or discussion of the symmetry of tonsillar ectopia in the medical literature. We measured the degree of left and right tonsillar herniation in 42 pediatric patients with a symptomatic Chiari I malformation and made clinical/radiological correlations. 18% of all patients with tonsillar asymmetry had clinical symptoms or physical findings referable to the inequality of their hindbrain herniation. In addition, 95% of patients with a coexisting syringomyelia had a right cerebellar tonsillar herniation greater than the left. We hypothesize that slight differences in posterior cranial fossa morphology may physically allow for greater unilateral herniation of the left or right cerebellar tonsil, which may be manifested in a patient's clinical presentation.     

Chiari II malformation and occult spinal dysraphism. Case reports and a review of the literature

We report two cases of children with occult spinal dysraphism who were also found to have many associated brain anomalies seen in the Chiari II malformation. No previous report has commented on the possible association between the Chiari II malformation and the 'closed' form of neural tube defect. One child had symptoms referable to pathology at the craniocervical junction. Neither child had cutaneous stigmata associated with occult spinal dysraphism over the caudal midline spine. These cases, although seemingly rare, lend support to the theories that the association between the Chiari II malformation and patients with myelomeningoceles is due to dysgenesis of the rostral and caudal neural tube. These cases are also important as refutation of earlier theories that link these two entities by proposing that the Chiari II malformation is due to overdrainage of cerebrospinal fluid at the site of myelomeningocele.     

Environmental factors for the development of fetal urinary malformations

Background

The development of the kidneys and other organs of the urinary tract also follow the natural rule of gene-environment-lifestyle interaction. Both intrinsic and extrinsic factors may be associated with the etiology of various kinds of urinary malformations. The environmental factors belong to extrinsic factors, which have attracted increasing attention from researchers.

Methods

Publications about urinary malformations were searched from databases such as PubMed, Elsevier, Chemical Abstract, Excerpta Medica, Chinese Hospital Knowledge Database and Wanfang Database.

Results

Urinary malformation is associated with low birth weight, maternal diseases, placental insufficiency, maternal drug exposure, and maternal exposure to environmental pesticides. Living environment and socioeconomic factors may also influence the incidence of urinary malformation.

Conclusion

It is important to understand the association of environmental factors with the development of the renal system and urinary malformation in order to decrease the incidence of urinary malformations.     

OK-432 sclerotherapy of lymphatic malformation in the head and neck: factors related to outcome

Background

No previous study to the best of our knowledge has examined the multiple factors related to the outcome of OK-432 sclerotherapy of lymphatic malformations.

Objective

This study aimed to assess factors related to the successful outcome of OK-432 sclerotherapy for lymphatic malformations in the head and neck region.

Materials and methods

During a 6-year period, OK-432 sclerotherapy was performed in 26 patients with lymphatic malformations. Several factors related to the efficacy of OK-432 sclerotherapy were evaluated, including the type (macrocystic or microcystic), the maximum lesion diameter, amount and hemorrhagic cytology of the aspirate, degree of aspiration, injected dose of OK-432 and post-therapy inflammation-related symptom. In all cases, ultrasound (US) follow-up was performed.

Results

Of the 26 cases, 13 (50%) showed successful elimination of the lymphatic malformations in the follow-up US after the initial session, and all successful cases were of the macrocystic type. The type of lymphatic malformation and the success of OK-432 sclerotherapy were significantly related (P?=?0.0149). Of the 16 cases of complete aspiration, 11 (68.8%) showed a successful outcome. Further, of the 17 cases with inflammation-related symptom, 13 (76.5%) showed a successful outcome. While the degree of aspiration and presence of inflammation-related symptom showed a significant relationship with the success of OK-432 sclerotherapy (P?<?0.05), no other factors showed a significant relationship.

Conclusion

The study results suggest that the macrocystic type and complete aspiration of cystic contents were important factors for the success of OK-432 sclerotherapy of lymphatic malformations, and that inflammation-related symptom was a predictor of a successful outcome.