Local conceptions of the role of folate in neural tube defects in Zambia.

OBJECTIVE: In sub-Saharan Africa, neural tube defects (NTDs) are the second most common birth defect, occurring eight times more frequently than in the US. The objective of this study was to assess baseline Zambian caregiver understanding of folate and NTDs and the effectiveness of an NTD prevention educational program. METHODS: This prospective survey-based study included Zambian caregivers of children born with NTDs who completed pre- and post-educational program surveys between January 2020 and January 2021. The verbal survey was administered in English or local Zambian dialects. The 1-hour educational program administered by local Zambian research nurses sought to facilitate understanding of the direct relationship between prenatal folate supplementation and NTDs. RESULTS: Sixty-one eligible caregivers with a median age of 20 (IQR 24-29) years completed the survey. Participants were predominantly from regions outside of Lusaka Province (68%, 41/60) rather than the capital city, Lusaka (32%, 19/60). Most had received prenatal care (91%, 57/61), and 80% (47/59) reported folate use in pregnancy. Of the mothers who took folate during pregnancy, 24% (11/45) reported use within the first 4 weeks after conception, while 76% (34/45) started thereafter. Myelomeningocele was the most common NTD (74%, 32/43), followed by meningocele (14%, 6/43). Prior to the educational program, 52% (29/56) of caregivers reported that NTDs were caused by a vitamin deficiency, which improved to 98% (55/56) after the program (p < 0.001). Furthermore, only 54% (33/61) of caregivers believed that folate should be taken before conception on the baseline survey evaluation, which improved to 95% (58/61, p < 0.001) after the program. All survey participants (58/58) found the educational session helpful. CONCLUSIONS: This study found that a high proportion of Zambian caregivers had received prenatal care and even had taken folate during pregnancy, but none had taken it prior to pregnancy. An educational program effectively improved understanding about the role and timing of perinatal folate administration in NTD prevention. This result also emphasizes the need for folate fortification and folate education for not only mothers but also primary care providers.

Sacral nerve stimulation lead implantation in partial sacral agenesis using intra-operative computerized tomography.

AIM: Sacral nerve stimulation (SNS) lead implantation is a straightforward procedure for individuals with intact spinal vertebrae. When sacral anomalies are present, however, the anatomical and radiological reference points used for the accurate placement of the electrode may be absent or difficult to identify. METHOD: We describe an innovative surgical procedure of percutaneous nerve evaluation for SNS in a patient with faecal incontinence secondary to a congenital imperforate anus and partial sacral agenesis using a surgical imaging platform (O-arm system) under neurophysiological control. RESULTS: Using intra-operative CT and neuronavigation, the insertion point at the skin was identified. The lead was introduced into the right-sided S3 foramen and placed at the correct depth. An appropriate motor response was obtained after stimulation and neurophysiological control confirmed that the right S3 root was being stimulated. CONCLUSION: Our experience showed that O-arm guided navigation can be used to overcome the difficulty of SNS lead placement in patients with partial sacral agenesis who have faecal incontinence.

Novel Use of Pudendal Neuromodulation in a Pediatric Patient With Caudal Regression and Partial Sacral Agenesis for Refractory Bowel Bladder Dysfunction.

Sacral neuromodulation (SNM) has been used off-label in the United States for over a decade in the pediatric population. Many published studies have demonstrated efficacy with SNM in this population; however, a significant number of children with refractory bowel bladder dysfunction (BBD) also have underlying comorbidities. Children with certain spinal abnormalities pose a problem for the urologist treating BBD. Patients with caudal regression can have various sacral anomalies, making SNM challenging or impossible. We present the first case in the United States of pudendal neuromodulation in a pediatric BBD patient with caudal regression.

Cystoperitoneal shunt for a giant intrathoracic meningocele under local anesthesia.

Giant intrathoracic meningoceles are extremely rare, and the standard treatment for giant intrathoracic meningoceles remains controversial. We present the case of a patient with giant intrathoracic meningoceles associated with neurofibromatosis type I. Our patient had poor respiratory function because of the giant intrathoracic meningocele, so we performed a cystoperitoneal shunt under local anesthesia. We describe our cystoperitoneal shunt technique using an adjustable-pressure valve. This simple, minimally invasive treatment is a valuable alternative treatment option in patients at high operative risk, especially those with low respiratory function.

Congenital fusion of the thalami (atresia of the third ventricle) associated with parietooccipital meningocele.

In this article we present a case of a male newborn with a CNS malformation that is characterized mainly by complete fusion of the thalami resulting in atresia of the 3rd ventricle accompanied by fusion of the anterior peduncles of the fornix, the presence of a single occult interventricular foramen lying at the midline, absence of the septum pellucidum, hypoplasia of the corpus callosum, disorganization of the head of the left caudate nucleus, and greatly dilated lateral ventricles (hydrocephalus). The patient underwent surgical correction of the meningocele on his 4th postnatal day. On his 13th postnatal day he had projectile vomiting due to a left parietooccipital hygroma that was drained via a shunt. On his 31st postnatal day he developed seizures and marked dilatation of the lateral ventricles, for which he underwent a ventriculoperitoneal shunt (Brown). On the 14th postoperative day the patient developed aspiration pneumonia and died.

Endocrine abnormalities in patients with frontoethmoidal encephalomeningocele. A preliminary study.

BACKGROUND: Frontoethmoidal encephalomeningocele (FEEM) is a congenital neural tube defect which is more common in Southeast Asia. Its etiology is unknown. No one has ever reported endocrine abnormalities in this condition. METHOD: We retrospectively reviewed medical records of 84 patients with FEEM, primarily focused on the clinical data suggestive of endocrine disorders including growth parameter, thyroid function test, serum electrolyte and serum osmolality. RESULTS: Nasoethmoidal was the most common subtype found in this study. Sixty-four percent of our patients had their heights below the mean height of normal Thai children. The incidence of hypothyroidism (1:28), central DI (1:42) and GHD (1:42) were higher than that in the general population. CONCLUSION: A significant number of patients with FEEM had clinical evidences suggestive of hypothalamopituitary insufficiency. Appropriate replacement therapy is mandatory in order to prevent untoward complications.

Magnetic resonance detection of myelodysplasia in children with Currarino triad.

PURPOSE: To evaluate the role of MRI in the detection of myelodysplasia in children with Currarino triad. MATERIALS AND METHODS: Six patients (two girls, four boys, aged 7 months-14 years, mean age 6 years) were studied with MRI, voiding cystourethrogram and barium enema or fistulography. CT and ultrasonography were also performed in two patients. RESULTS: All patients presented with partial agenesis of the sacrum. Three patients suffered from an intermediate form of anorectal malformation (ARM) and three had a high form of ARM. The presacral masses consistent with Currarino triad included anterior meningocoele in three patients, lipoma in two patients and anterior lipomeningocoele in one patient. MRI diagnosed tethering of the spinal cord in four of six patients. The tethering of the spinal cord was due to a lipomeningocoele in one patient, an intradural lipoma in one patient and a lipoma of the filum in two patients. CONCLUSION: The association of Currarino triad with tethered spinal cord seems more common than generally reported in the literature. Preoperative MRI of the lumbosacral spine is essential to detect significant myelodysplasia in all patients with Currarino triad.

[Currarino triad : a case report].

The authors report a case of Currarino triad comprising anorectal malformations, sacral bony anomaly and presacral mass. A 1-year-old boy was presented with constipation as his chief complaint. No neurological deficit was found on admission. There was no cutaneous evidence of underlying spinal dysraphism. Lumbar X-ray films showed bony defect caudal to the third sacral vertebra. A barium-enema examination revealed an anterior displacement of the rectum. A myelography showed a presacral cavity filled with contrast medium. MRI demonstrated a thick filum terminale, and a round hypointense mass in the pelvis on T1 weighted images and hyperintense on T2 weighted images. Surgically we released the thick filum terminale, and obliterated the anterior sacral meningocele, because total removal would have been hazardous. Postoperatively transient dysuria was observed for a month, and the difficulty in defecation persisted. Recognition of this rare condition will lead to correct diagnosis and proper treatment.

Management of bowel dysfunction in children with spinal cord disease or injury by means of the enema continence catheter.

Because bowel dysfunction in children with spinal cord impairment is a common and disabling problem that does not have adequate treatment, we evaluated the enema continence catheter developed in Toronto, Canada. Thirty-one children and their families were taught to administer a 20 ml/kg saline enema through this device. The children's bowel functions were evaluated 18 and 20 months after the start of the program. Six of the children dropped out of the study in the first 2 weeks and nine dropped out after between 18 and 30 months. For those remaining in the study, the proportion of continent stools rose from 28% to 94% (p less than 0.01); constipated stools dropped from 55% to 15% (p less than 0.01). Satisfaction with the bowel program increased, and five children were able to switch from diapers to lined underwear. No adverse effects were reported, and the amount of time required for toileting did not increase. Although compliance with the regimen was difficult for some families and its use carries potential risks, we believe that it can provide significant improvement in the bowel care of selected persons with spinal cord impairment.

Ulceras por decúbito e Hidroterapia en las termas de Copahue / Decubitus ulcers and hydrotherapy in the Copahue Thermal Complex

Se presenta el caso de una niña de 9 años con paraparesia y escaras por decúbito de más de 6 meses de evolución, tratada con hidroterapia integral en las Termas de Copahue (Neuquén-Argentina). Mediante esta terapeútica pudimos observar una rápida y excelente respuesta, tanto de las lesiones cutáneas como de su cuadro general

Ulceras por decúbito e Hidroterapia en las termas de Copahue / Decubitus ulcers and hydrotherapy in the Copahue Thermal Complex

Se presenta el caso de una niña de 9 años con paraparesia y escaras por decúbito de más de 6 meses de evolución, tratada con hidroterapia integral en las Termas de Copahue (Neuquén-Argentina). Mediante esta terapeútica pudimos observar una rápida y excelente respuesta, tanto de las lesiones cutáneas como de su cuadro general

[Treatment of Spastic Gait Disorders Using an "Electro-Gait-Stimulator ("Schrittstimulator") (author's transl)]. / Zur Elektrobehandlung der spastischen Gangstörung mit einem "Schrittstimulator"

A short historical outline of electric treatment of spasticity is given. A specially developed management with a "gait-stimulator" is described. Four muscles of each lower extremity being mainly engaged in walk were electrically stimulated in the physiological sequences according to the normal gait. The used electric impulses were of a duration of 0,25 msec and an intensity up to 700 V. Using such a "gain-stimulator" in spastic-paraparetic patients a reduced spasticity has been achieved. Positive effect of this treatment has been mostly pronounced, when the programming of impulses was adjusted to the end of the expected physiological contraction of the corresponding muscles. Physiological and pathological data of the "Silent period" is proposed to be mostly involved. The application of impulses in physiological sequences seems to reactivate normal reflex - mechanisms which are disturbed by supraspinal laesion. The results indicate that the electric impulses activates muscle-sensory - organs and that impulses on these organs produce a pace-making function on the spinal cord, which lessens spasticity.