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Neural tube defects Challenging, yet preventable
Abstract
Neural tube defects (NTDs) constitute one of the most common malformations of human structure with a major public health burden (0.5-2/1000 pregnancies worldwide). They remain a preventable cause of still birth, neonatal and infant death, or significant lifelong handicaps. The underlying pathology is the consequence of a defect in the neurulation process very early in pregnancy, between 21 and 28 days after conception, leading to failure of the neural folds to fuse in the midline and form the neural tube.
... We looked at this issue from 2 perspectives, as based on the opinion of the Islamic Fiqh (Jurisprudence) council, under the umbrella of the Muslim world league. 15 This council concluded that abortion can be accepted in cases when a foetus is expected to be disabled, as long as the foetus was conceived less than 4 months prior to the procedure, as based on the authentic narrations of the Prophet Mohammed, peace be upon him. 15 However, the major Islamic concerns regarding abortion are based on the following: the anticipated harm to the mother from continuing the pregnancy; the status of the foetus in terms of ensoulment before or after 4 months' gestation; and anomalies not compatible with life. ...
... 15 This council concluded that abortion can be accepted in cases when a foetus is expected to be disabled, as long as the foetus was conceived less than 4 months prior to the procedure, as based on the authentic narrations of the Prophet Mohammed, peace be upon him. 15 However, the major Islamic concerns regarding abortion are based on the following: the anticipated harm to the mother from continuing the pregnancy; the status of the foetus in terms of ensoulment before or after 4 months' gestation; and anomalies not compatible with life. The Islamic Fiqh council concluded that after 4 months, abortion is prohibited, except in the case when continuing with the pregnancy would pose a major risk for the mother's life (See the 12th Islamic Fiqh council meeting decisions, Makkah, Kingdom of Saudi Arabia, dated February 7, 1991, which corresponds to Rajab 7, 1410 Hijri calendar). ...
Major approaches have emerged in the field of myelomeningocele (MMC) management. The prevalence of MMC in Kingdom of Saudi Arabia is 0.44-1.46/1000 births. Nine point seven percent of pregnant Saudi women take folic acid before conception; MMC is estimated to result in 1,417,500 Saudi Riyals (SAR) in lifetime costs per patient. Abortion should be performed cautiously in Muslim countries; another option may be the intrauterine foetal surgical repair of MMC, which has better neuromotor outcomes and reduces the need for ventriculoperitoneal shunt, albeit with a higher risk of obstetric complications. Seven years after intrauterine foetal surgery emerged, there is a need to establish this service in Kingdom of Saudi Arabia. A multidisciplinary approach is required for MMC patients; surgical closure should be carried out within 72 hours after birth to reduce the risk of infection. Advancing MMC care allows patients to survive to adulthood, and action must be taken to improve the quality of MMC care in Kingdom of Saudi Arabia. © 2019, Saudi Arabian Armed Forces Hospital. All rights reserved.
... Of particular significance is gestational diabetes, which represents a strong risk factor for CRS. Studies suggest that the risk of CRS is markedly elevated in pregnancies complicated by gestational diabetes, estimated to be 200 to 400 times higher compared to the general population [3][4][5][6]. ...
Background: Caudal regression syndrome (CRS) is a rare congenital malformation characterized by incomplete development of the lower spine and spinal cord. Its estimated incidence ranges from 1 to 2 per 100,000 live births, leading to a spectrum of clinical presentations. Although most cases are diagnosed during childhood, only a small number of cases have been documented in adults in the medical literature. Case Report: A 27-year-old woman underwent an outpatient magnetic resonance imaging (MRI) of the thoracolumbar spine due to severe lower back pain experienced for the first time. Despite congenital leg abnormalities and multiple childhood surgeries, no further investigations were conducted at that time. MRI revealed congenital anomalies consistent with CRS, including coccygeal agenesis, L5 sacralization, and spinal cord defects. The patient also had a long-standing pilonidal cyst treated conservatively, now requiring operative treatment due to an abscess. Conclusions: This report underscores a rare case of CRS initially misdiagnosed and mistreated over many years. It emphasizes the importance of considering less common diagnoses, especially when initial investigations yield inconclusive results. This clinical case demonstrates a highly valuable and educative radiological finding. In the literature, such cases with radiological findings in adults are still lacking.
... [4]. This is in spite of policy developments surrounding FA fortification in some foods, as adopted in Saudi Arabia in year 2000 [4,5]. ...
... In 2014, Salih wrote that "prevention of neural tube defects can gain a faster momentum if ... countries adopted fortification of the staple food in their communities". 5 The Teratology Society has recently recommended the urgent global implementation of mandatory folic acid fortification as the cornerstone of global prevention of FAP SBA. 6 We hope this editorial will motivate those with the resources to set the goal of total prevention of FAP SBA, and to provide the logistics to ensure that it is achieved and documented. We also hope that soon we will read papers in this journal, demonstrating the total prevention of FAP SBA in KSA, and perhaps all of ERM. ...
Paraplegia is defined as complete loss of motor and sensory function from the thoracic, lumbar, or sacral regions of the spinal cord, whereas paraparesis is partial weakness in both lower limbs, due to disorder in the spinal cord or nerves supplying the muscles or direct involvement of the muscles. The child loses the ability to stand or walk and may also lose urinary and bowel control, and temperature and pain sensation in the affected area [1, 2].
To ascertain the incidence and clinical implications of agenesis of the corpus callosum (ACC) in spinal open neural tube defects (SONTD).
All cases of SONTD registered at the Spina Bifida Clinic in King Khalid University Hospital, Riyadh, Saudi Arabia between 1995 and 2010 were retrospectively reviewed, and mid-sagittal MRI of the corpus callosum (CC) area was analyzed in each case. Neurodevelopmental outcome was classified as poor in children with seizures, severe neurodevelopmental impairment, or death.
Thirty-eight patients (45.8%) with ACC were identified among 83 cases with SONTD. Patients' age ranged between one and 16 years. Total ACC was found in 10 patients, partial ACC in 25, and in 3 patients, the CC was hypoplastic. Active hydrocephalus was an associated finding in 9 out of 10 patients with total ACC, 22 out of 25 with partial ACC, and in all patients with hypoplasia of the CC. Thirteen patients (34.2%) had normal intellectual function, whereas 24 patients presented with learning disability, epilepsy, or poor intellectual function; and one patient died of respiratory failure.
Agenesis of the corpus callosum is found in a significant portion of patients with SONTD. When associated with hydrocephalus, its presence affects neuro-developmental outcome.
To find the prevalence of neural tube defects (NTDs), and compare the findings with local and international data, and highlight the important role of folic acid supplementation and flour fortification with folic acid in preventing NTDs.
This is a retrospective study of data retrieved from the medical records of live newborn infants admitted to the Neonatal Intensive Care Unit (NICU), Security Forces Hospital (SFH), Riyadh, Saudi Arabia with NTDs spanning 14 years (1996-2009). All pregnant women on their first antenatal visit to the primary care clinic were prescribed folic acid 0.5 mg daily, or 5 mg if there is a family history of NTD. The pre-fortification prevalence is compared to post-fortification, before and after excluding syndromic, genetic, and chromosomal causes. The results were compared with reports from other parts of Saudi Arabia and internationally, through a literature search using MEDLINE.
The prevalence of NTDs during the period was 1.2 per 1000 live births. The pre-fortification of flour with folic acid prevalence was 1.46 per 1000 live births. The post-fortification prevalence was 1.05 (p=0.103). After excluding syndromic, genetic, and chromosomal causes from calculation of the prevalence, there was a significant reduction in the prevalence, from 1.46 to 0.81 per 1000 live births (p=0.0088). Syndromic, genetic, and chromosomal causes were identified in 20 cases (19.4%). Only 2% of mothers received preconception folic acid, and only 10% of them received it during the first 4 weeks of gestation.
Despite the implementation of fortification of flour with folic acid since 2001, the prevalence of NTDs in the Kingdom of Saudi Arabia is still high. This is due to the impact of genetic, syndromic, and chromosomal causes of NTD not preventable by folic acid. Other factors like unplanned pregnancy and lack of awareness of the role of folic acid in preventing nonsyndromic causes, play a significant role.
The coexistence of myelomeningocele (MMC) and split cord malformation (SCM) is a well-known phenomenon. The SCM is usually above or at the level of the MMC. Split cord malformation distal to the MMC is considered to be the rarest form of such a combination. We report a case of SCM (type I) distal to the MMC diagnosed pre-operatively. Repair of the MMC and the SCM were carried out in the same setting.
Neural tube defects (NTDs) constitute a major health burden (0.5-2/1000 pregnancies worldwide), and remain a preventable cause of still birth, neonatal, and infant death, or significant lifelong handicaps. The malformations result from failure of the neural folds to fuse in the midline, and form the neural tube between the third and the fourth week of embryonic development. This review article discusses their classification, clinical features, and genetics. Most NTDs are sporadic and both genetic, and non-genetic environmental factors are involved in its etiology. Consanguinity was suggested to contribute to the high incidence of NTDs in several countries, including Saudi Arabia. Syndromes, often associated with chromosomal anomalies, account for <10% of all NTDs; but a higher proportion (20%) has been documented in Saudi Arabia. Genetic predisposition constitutes the major underlying risk factor, with a strong implication of genes that regulate folate one-carbon metabolism and planar cell polarity.
To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes.
We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data.
Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies.
There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions.
To illustrate the clinical and radiological findings of split cord malformation (SCM) in patients with spinal open neural tube defect (SONTD), and report the outcome of their treatment.
A retrospective study of the clinical and radiological findings of 11 patients diagnosed with SCM, identified among 83 patients with SONTD at King Khalid University Hospital, in Riyadh, Saudi Arabia between 1995 and 2010.
There were 6 girls and 5 boys; their age ranged from less than a year to 9 years (mean 4.2 years). Six patients had type I SCM, and 5 patients type II SCM. The CT and MRI imaging showed characteristic bony, cartilaginous, or fibrous septum, and other SONTD-associated anomalies. Seven patients were graded A & B according to the Frankel grading score, and none of them required surgery, while worsening neurology led to surgical intervention in 3 patients, with clinical improvement after surgery, and one patient that underwent cord untethering remained stable.
Split cord malformation is not uncommon among patients with SONTD. It tends to involve mainly the lumbar spine, and female predominance is more remarkable in type I. Neurological manifestations of SCM may be superimposed with SONTD. Surgery is effective for symptomatic patients, and not indicated in the severely disabled.
To describe cases of sirenomelia and severe caudal regression syndrome (CRS), to report the prevalence of sirenomelia, and compare our findings with the literature.
Retrospective data was retrieved from the medical records of infants with the diagnosis of sirenomelia and CRS and their mothers from 1989 to 2010 (22 years) at the Security Forces Hospital, Riyadh, Saudi Arabia. A perinatologist, neonatologist, pediatric neurologist, and radiologist ascertained the diagnoses. The cases were identified as part of a study of neural tube defects during that period. A literature search was conducted using MEDLINE.
During the 22-year study period, the total number of deliveries was 124,933 out of whom, 4 patients with sirenomelia, and 2 patients with severe forms of CRS were identified. All the patients with sirenomelia had single umbilical artery, and none were the infant of a diabetic mother. One patient was a twin, and another was one of triplets. The 2 patients with CRS were sisters, their mother suffered from type II diabetes mellitus and morbid obesity on insulin, and neither of them had a single umbilical artery. Other associated anomalies with sirenomelia included an absent radius, thumb, and index finger in one patient, Potter's syndrome, abnormal ribs, microphthalmia, congenital heart disease, hypoplastic lungs, and diaphragmatic hernia.
The prevalence of sirenomelia (3.2 per 100,000) is high compared with the international prevalence of one per 100,000. Both cases of CRS were infants of type II diabetic mother with poor control, supporting the strong correlation of CRS and maternal diabetes.
This review article discusses the epidemiology, risk factors, prenatal screening, diagnosis, prevention potentials, and epidemiologic impact of neural tube defects (NTDs). The average incidence of NTDs is 1/1000 births, with a marked geographic variation. In the developed countries, the incidence of NTDs has fallen over recent decades. However, it still remains high in the less-developed countries in Latin America, Africa, the Middle East, Asia, and the Far East (>1 to 11/1000 births). Recognized NTDs risks include maternal diabetes, obesity, lower socioeconomic status, hyperthermia, and exposure to certain teratogens during the periconceptional period. Periconceptional folic acid supplementation decreased the prevalence of NTDs by 50-70%, and an obligatory folic acid fortification of food was adopted in several countries to reach women with unplanned pregnancies and those facing social deprivation. Prevention of NTDs can be accelerated if more, especially low income countries, adopted fortification of the staple food in their communities.
To review the uronephrological outcomes of myelomeningocele (MMC) patients attending a Spina Bifida Clinic.
We retrospectively reviewed the medical records of all patients from the combined Spina Bifida Clinic, at King Khalid University Hospital, Riyadh, Saudi Arabia between 1999 and 2009 who had at least one year of follow-up with us. We examined their demographic data, uronephrological status at presentation, most recent follow-up, and the rate of surgical intervention.
During the 10-year period, 188 patients were actively followed-up. The mean age at presentation was 5.3 years +/- 3.6 SD. At their last follow-up, 109 patients (58%) were using clean intermittent catheterization, 44 (23%) had received Botox injections, and 26 (14%) had undergone bladder reconstruction. Most (66%) patients were older than 3 years when they presented to us; this group had a significantly higher rate of surgical intervention (Botox or reconstruction) compared with those who came to us earlier (p=0.003 for patients receiving Botox injections, and p=0.025 for patients undergoing bladder reconstruction).
Our multidisciplinary Spina Bifida Clinic is an integral part of MCC management to reach a safe urological outcome. Early presentations to our clinic resulted in a lesser need for surgical intercession compared with those who presented at more than 3 years old.