Myelomeningocele: prenatal diagnosis,pathophysiology and management

Myelomeningocele (MMC) is a common birth defect that is associated with significant lifelong morbidity. Little progress has been made in the postnatal surgical management of the child with spina bifida. Postnatal surgery is aimed at covering the exposed spinal cord, preventing infection, and treating hydrocephalus with a ventricular shunt. In utero repair of open spina bifida is now performed in selected patients and presents an additional therapeutic alternative for expectant mothers carrying a fetus with MMC. Early fetal intervention may improve neurologic outcome and reduce the hindbrain herniation associated with the Arnold-Chiari II malformation. These changes may improve long-term neurologic function and limit requirements for shunt placements and other surgical interventions. Further research is needed to better understand the pathophysiology of MMC, the ideal timing and technique of repair, and the long-term impact of in utero intervention. A prospective, randomized clinical trial is planned comparing prenatal MMC repair with postnatal repair.     

Investigation of daytime wetting: when is spinal cord imaging indicated?

BACKGROUND: Most children with daytime wetting have detrusor instability. A minority have neuropathic vesicourethral dysfunction. The commonest cause is spina bifida, which may be closed. Clinical features suggestive of closed spina bifida include cutaneous, neuro-orthopaedic or lumbosacral spine x ray abnormalities, impaired bladder sensation, and incomplete bladder emptying. MRI is the ideal method for detecting spinal cord abnormality. It has been suggested that MRI spine is an unnecessary investigation in children with daytime wetting in the absence of cutaneous, neuro-orthopaedic, or lumbosacral spine x ray abnormalities. Aim: To clarify indications for magnetic resonance imaging (MRI) of the spine in children with voiding dysfunction. METHODS: Retrospective study of children with voiding dysfunction referred from the Guy's Hospital neurourology clinic for MRI spine between April 1998 and April 2000. Clinical notes and results of investigations, including urodynamic studies and MRI spine were reviewed. RESULTS: There were 48 children (median age 9.1 years). Closed spina bifida was detected in five, of whom four had neuropathic vesicourethral dysfunction confirmed by urodynamic studies. Impaired bladder sensation and incomplete bladder emptying were more frequent in these children than in those with normal MRI spine. One child with spinal cord abnormality had no cutaneous, neuro-orthopaedic, or lumbosacral spine x ray abnormalities. CONCLUSION: Spinal cord imaging should be considered in children with daytime wetting when this is associated with impaired bladder sensation or poor bladder emptying, even in the absence of neuro-orthopaedic, cutaneous, or lumbosacral spine x ray abnormalities.     

Outcome of meningomyelocele/lipomeningomyelocele in children of northern India

OBJECTIVE: To evaluate the clinical profile, associated anomalies and surgical outcome of children with meningomyelocele (MMC)/lipomeningomyelocele. METHODS: Out of a total of 181 cases of spinal dysraphism treated at our Institute between 1996 and 2004, 102 (56.35%) cases of MMC/lipomeningomyelocele were analyzed retrospectively and prospectively. The clinical profile and radiological findings of these children were recorded. Craniospinal MRI was the essential investigation and was done as a management protocol at our Institute for these children. Eighty-two out of 102 (80.3%) cases had pure MMC/lipomeningomyelocele and 20/102 (19.6%) had associated split cord malformation (SCM; complex spina bifida). All these children underwent surgery for their primary and associated malformations as indicated. They were clinically assessed over a mean follow-up period of 3.6 years ranging from 1.5 months to 8 years. No urodynamic or evoked potential studies were done to assess the sphincteric outcome following surgery. RESULTS: Forty-six (45.1%) of children with MMC had other associated tethering lesions, including the presence of SCM. Craniospinal axis screening remained an important tool to understand the associated tethering lesions and malformations. Only 58.8% of children had hydrocephalus; thus the incidence was much lower compared with reports from the western literature (80-96%). 63.3% of children with overt hydrocephalus required shunt surgery prior to the definitive surgery; however, 23.3% of cases required a shunt after the MMC has been closed. Improvement in clinical profile following microneurosurgery was observed in 42.8% of cases with motor involvement, 46.8% of cases with sensory dysfunction and 39.5% of cases with sphincteric involvement. Motor improvement was seen in 43.6% of cases of pure MMC/lipomeningomyelocele as compared to only 40.0% of cases of complex spina bifida. Sensory improvement was also better in pure MMC/lipomeningomyelocele group being seen in 48.0% of cases as compared to only 42.9% of cases of complex spina bifida. CONCLUSION: Presence of SCM with MMC is referred to as complex spina bifida and is seen in a significant proportion (19.6%) of all cases of MMC. Thorough assessment of the craniospinal imaging needs to be done to look for the presence of multiple tethering lesions which could be present in the same case. Not all children with spinal dysraphism with hydrocephalus required shunt surgery or CSF diversion but a constant and vigilant follow up could avoid it in 13.3% of cases. Improvement in motor and sensory dysfunction was better in the pure MMC/lipomeningomyelocele group than in the complex spina bifida group. Improvement in sphincteric dysfunction, although seen in significant cases, was less compared with improvement in motor and sensory dysfunction. This probably represents a lack of definitive objective criteria for urodynamic improvement and a lack of proper rehabilitation. Electromyographic studies and uroflowmetry are required to asses the true sphincteric outcome following surgery.     

Fetal surgery for spina bifida: Past,present, future

Open spina bifida or myelomeningocele (MMC) is a common birth defect that is associated with significant lifelong morbidity. Little progress has been made in the postnatal surgical management of the child with spina bifida. Postnatal surgery is aimed at covering the exposed spinal cord, preventing infection, and treating hydrocephalus with a ventricular shunt. Experimental and clinical evidence suggest that the primary cause of the neurologic defects associated with MMC is not simply incomplete neurulation, but rather chronic, mechanical and amniotic-fluid induced chemical trauma that progressively damages the exposed neural tissue during gestation. The cerebrospinal fluid leak through the MMC leads to hindbrain herniation and hydrocephalus. In utero repair of open spina bifida is now performed in selected patients and presents an additional therapeutic alternative for expectant mothers carrying a fetus with MMC. In the past, studies in animal models and clinical case series laid the groundwork for a clinical trial to test the safety and efficacy of fetal MMC repair. In the present, a prospective, randomized study (the MOMS trial) has shown that fetal surgery for MMC before 26 weeks' gestation may preserve neurologic function, reverse the hindbrain herniation of the Chiari II malformation, and obviate the need for postnatal placement of a ventriculoperitoneal shunt. However, this study also demonstrates that fetal surgery is associated with significant risks related to the uterine scar and premature birth. In the future, research will expand our understanding of the pathophysiology of MMC, evaluate the long-term impact of in-utero intervention, and to refine timing and technique of fetal MMC surgery using tissue engineering technology.     

Spinal dysraphism: trends in northern India

OBJECTIVE: To evaluate the clinical profiles, image findings and surgical outcome of 155 cases of spinal dysraphism. METHODS: 155 patients were studied prospectively (143) or retrospectively (12). The male to female ratio was 1.5:1. Mean age at presentation was 5.7 years. Out of 155 cases of spinal dysraphism, 119 had open spina bifida [meningomyelocele (MMC) in 113 (72%), meningocele in 3 (2%) and myelocystocele in 3 (2%)] and 36 had occult spina bifida [split cord malformation (SCM) without overt MMC sac (pure SCM) in 29 (19%) and midline dermal sinus in 7 (4.5%)]. Lipomeningomyelocele constituted 73 of the 113 cases of MMC (65%). Twenty cases of MMC (18%) had associated SCM (complex spina bifida). The total number of cases with SCM was 49 (32%). Twenty-four children with MMC presented with an operative scar from previous surgery, performed at the periphery. After a detailed clinical evaluation of all patients, craniospinal MRI was the preferable mode of investigation. All patients underwent surgery and were clinically assessed over a mean follow-up period of 3.6 years. RESULTS: MMC sac was the commonest skin manifestation seen in 89/155 cases (57%). Hypertrichosis and previous operative scar were noticed in 24 cases each (15%). Cutaneous hemangioma, skin tag and multiple neurofibroma were the other common superficial skin manifestations. Clinically, 103 patients (66.5%) had variable weakness of the lower limbs, and muscle atrophy was noticed in 56 cases (41%). Graded sensory loss, sphincteric dysfunction, trophic ulcer and backache were present in 89 (57%), 64 (36%), 17 (11%) and 9 cases (6%), respectively. Significant scoliosis in 56 cases (36%) and congenital talipes equinovarus in 51 cases (33%) were the most frequent neuroorthopedic deformities apart from high-arched foot, leg length discrepancy and flat foot. Common image findings were low-lying cord in 101 (65%), neural placode in 76/113 (49%), hydrosyrinx in 42 (27%), hydrocephalus in 71 (46%) and Chiari malformation in 62 cases (45%). The lumbosacral region in 56 cases (38%), followed by the lumbar region in 47 (30%), were the most common sites of occurrence of spina bifida. Of 71 hydrocephalic patients, 39 (55%) needed shunting before definitive surgery and 21 (30%) after the surgery. Eleven patients (15%) did not require shunting at all. CSF leak in 51 patients (33%), pseudomeningocele in 26 (17%), wound infection in 22 (14%) and meningitis in 13 (8%) were the most common postoperative complications. Two patients died in the postoperative period. During an average follow-up of 3.6 years (range 1.5-8 years), motor weakness improved in 47 children (45%) and remained static in 53 (52%), and 3 children showed deterioration in motor power. Sensory dysfunction improved in 43 (48%), remained static in 42 (47%) and deteriorated in 4 patients (4%). Sphincteric function clinically improved in 26 patients (41%) and was static in 38 (59%), and 6 patients (4%) had deterioration. Backache was dramatically relieved in all 9 patients with this complaint (100%). In 13 children with trophic ulcer (76%), it completely healed. CONCLUSION: A significant proportion of patients with open spinal dysraphism harbor an underlying SCM, an entity coined complex spina bifida (in our previous study). The incidence of hydrocephalus in spinal dysraphism is low in India in comparison to the Western world. Some patients with mild hydrocephalus on scan may not require a shunt operation. Surgical intervention should be early after entire neural axis screening by MRI.     

Spina bifida occulta in functional enuresis

Objective: To study incidence of spina bifida occulta in nocturnal enuresis cases and to compare outcome of enuresis with spina bifida occulta and enuresis without spina bifida occulta.Methods: Patients with enuresis divided into two groups based on X-ray lumbosacral spine. Outcome of these patients were compared on behavioral therapy.Results: Spina bifida occulta was detected in 18 out of total 48 patients. Levels of spina bifida were L5 vertebrae in 3,L5-S1 in 5, S1 in 8 and S1-S2 in 2 patients. Outcome was evaluated in 42 patients who were followed up for more than 6 months. There was no significant difference between both the groups.Conclusion: Spina bifida occulta is a common finding in enuresis. Outcome of patients with spina bifida occulta is not different than the patients without spina bifida occulta.     

Spina bifida and other neural tube defects

NTDs, resulting from failure of the neural tube to close during the fourth week of embryogenesis, are the most common severely disabling birth defects in the United States, with a frequency of approximately 1 of every 2000 births. Neural tube malformations involving the spinal cord and vertebral arches are referred to as spina bifida, with severe types of spina bifida involving protrusion of the spinal cord and/or meninges through a defect in the vertebral arch. Depending on the level of the lesion, interruption of the spinal cord at the site of the spina bifida defect causes paralysis of the legs, incontinence of urine and feces, anesthesia of the skin, and abnormalities of the hips, knees, and feet. Two additional abnormalities often seen in children with spina bifida include hydrocephalus and the Arnold-Chiari type II malformation. Despite the physical and particular learning disabilities children with spina bifida must cope with, participation in individualized educational programs can allow these children to develop skills necessary for autonomy in adulthood. Advances in research to uncover the molecular basis of NTDs is enhanced by knowledge of the link between both the environmental and genetic factors involved in the etiology of NTDs. The most recent development in NTD research for disease-causing genes is the discovery of a genetic link to the most well-known environmental cause of neural tube malformation, folate deficiency in pregnant women. Nearly a decade ago, periconceptional folic acid supplementation was proven to decrease both the recurrence and occurrence of NTDs. The study of folate and its association with NTDs is an ongoing endeavor that has led to numerous studies of different genes involved in the folate metabolism pathway, including the most commonly studied thermolabile mutation (C677T) in the MTHFR gene. An additional focus for NTD research involves mouse models that exhibit both naturally occurring NTDs, as well as those created by experimental design. We hope the search for genes involved in the risk and/or development of NTDs will lead to the development of strategies for prevention and treatment. The most recent achievement in treatment of NTDs involves the repair of meningomyelocele through advancements in fetal surgery. Convincing experimental evidence exists that in utero repair preserves neurologic function, as well as resolving the hydrocephalus and Arnold-Chiari malformation that often accompany meningomyelocele defects. However, follow-up is needed to completely evaluate long-term neurologic function and overall improved quality of life. And in the words of Olutoye and Adzick, "until the benefits of fetal [meningomyelocele] repair are carefully elucidated, weighed against maternal and fetal risks, and compared to conventional postnatal therapy, this procedure should be restricted to a few centers that are committed (clinically and experimentally) to investigating these issues."     

Terminal Myelocystocele:an unusual presentation

Terminal myelocystocele is an unusual form of occult spinal dysraphism. It consists of a cystic dilatation of a low-lying terminal cord herniated posteriorly through a skin-covered lumbosacral spina bifida. An arachnoid-lined meningocele, continuous with the spinal subarachnoid space, is traversed by the hydromyelic cord. Clinically, this presents with a skin-covered lumbosacral mass, but often no neurological deficit is present. We present a case of terminal myelocystocele in a child born without deficit and without an obvious back mass. Diagnosis was delayed until sphincter disturbance and lower limb inequalities developed. We discuss the presentation, imaging and operative findings in this case.     

Pattern and factors affecting management outcome of spina bifida cystica in Ile-Ife, Nigeria

BACKGROUND AND OBJECTIVE: There is paucity of data on the pattern and factors affecting the management outcome of patients with spina bifida cystica in the Ife-Ijesa zone, Nigeria. This study was designed to address this research question. METHOD: One hundred and six consecutive cases of spina bifida cystica who presented in our hospital from January 1990 to December 2004 were reviewed. We obtained information on sociodemographic factors, medical history and management as well as clinical outcome. SPSS was used to analyze the data. RESULT: Males constituted 54.7% and females 45.2% of cases. Mortality was high in those presented after the 4th week of life (p = 0.04). The malformation occurred in the lumbar and lumbosacral regions in 77.4%. Myelomeningocele was the most common type (86.8%). Hydrocephalus was recorded in 53.8% of patients. Surgical closure was done for 91.5% of the patients. About 77% of all the patients were discharged while 22.7% died. This was significantly related to age at presentation (p = 0.04) and infection before surgery (p = 0.045). Postoperative complications were more frequent in patients with ruptured lesions (p = 0.025), a larger size of defect (p = 0.028) and a lower birth weight (p = 0.006). CONCLUSION: Myelomeningocele is the most common type of spina bifida cystica in our environment. Late presentation and preoperative infection are associated with high mortality in our patients.     

Experimental split cord malformations

OBJECTIVE: To induce experimental split cord malformations (SCMs) produced through the surgical induction of a dorsal midline fistula. METHODS: In addition, the theory of embryogenesis of SCMs was verified by examining the developmental process of this experimentally induced anomaly. In Cynopus pyrrhogaster (amphibian) embryos (stage 18), the neural plate and notochord were split regionally to construct a fistula that appeared to be the ectopic neurenteric canal. Following this procedure, the embryonic development was traced morphologically and histologically. RESULTS: Following the incubation and breeding period, split cord malformation was observed in some animals. Scoliosis, spina bifida, vertebral anomaly and subcutaneous manifestations were also observed with SCMs. CONCLUSIONS: The observations made in these experimentally induced SCMs are consistent with the findings in human SCMs. We report an experimental animal model of split cord malformation, in which double spinal cords were developed in the spinal canal. In addition, we examined the embryogenesis of SCMs. This study indicates that SCMs may arise through a process of dorsal midline fistula of the neural plate.     

Prenatal diagnosis of diastematomyelia

Fetal diastematomyelia, a malformation due to a longitudinal split of the cord, was diagnosed during the third trimester. Diagnosis was based on the visualization of a sagittal bony spur in the thoracolumbar spinal canal, associated with enlargement of the canal, hemivertebrae and spina bifida without a meningocele.     

Urinary continence across the life course

Spina bifida is the most common defect of the central nervous system. It is a congenital malformation of the spine with abnormal neural tube closure occurring between the third and fourth weeks of gestation, and most frequently affecting the lumbar and sacral regions. Most children with spina bifida have a normal urinary tract at birth, although renal damage and renal failure are among the most severe complications of spina bifida. Before ventricular shunting, survival rates for children with spina bifida were low, but most patients can now be expected to live into adulthood, thus prevention of urologic complications and promotion of continence have become critical. This article reviews the literature regarding urinary continence, and discusses issues across the lifespan, and implications for clinical practice and the pediatrician's role in the urologic care of children with spina bifida.     

Etiologic and epidemiologic aspects of neural tube defects

A case-control study of neural tube defects (NTD) was undertaken from 1979 to 1986 in the department of Bas-Rhin in Northeastern France. For 105,374 consecutive births the incidence of spina bifida was 0.62 in 1,000, the incidence of anencephaly was 0.33 in 1,000 and that of encephalocele was 0.14 in 1,000. Sex ratios were respectively 1.06, 0.64 and 0.75. Among the numerous etiological factors which were studied we observed a seasonal factor (more conceptions in April, less in September). Birth weight and length were lower in children with spina bifida than in controls. Metrorrhagia was more frequent during pregnancies with anencephaly as was oligoamnios in pregnancies with encephalocele. Routine US prenatal diagnosis, which was performed in 90% of the pregnant women, allowed diagnoses in 88% of the fetuses with anencephaly but only in 53% of the fetuses with spina bifida and in 64% of the fetuses with encephalocele. For these last two anomalies diagnosis could often be performed because a malformation was associated with a NTD.     

Fetal surgery for myelomeningocele is effective: a critical look at the whys

Formerly, the disastrous cluster of neurologic deficits and associated neurogenic problems in patients with myelomeningocele (MMC) was generally thought to solely result from the primary malformation, i.e., failure of neurulation. Today, however, there is no doubt that a dimensional additional pathogenic mechanism exists. Most likely, it contributes much more to loss of neurologic function than non-neurulation does. Today, there is a large body of compelling experimental and clinical evidence confirming that the exposed part of the non-neurulated spinal cord is progressively destroyed during gestation, particularly so in the third trimester. These considerations gave rise to the two-hit-pathogenesis of MMC with non-neurulation being the first and consecutive in utero acquired neural tissue destruction being the second hit. This novel pathophysiologic understanding has obviously triggered the question whether the serious and irreversible functional loss caused by the second hit could not be prevented or, at least, significantly alleviated by timely protecting the exposed spinal cord segments, i.e., by early in utero repair of the MMC lesion. Based on this intriguing hypothesis and the above-mentioned data, human fetal surgery for MMC was born in the late nineties of the last century and has made its way to become a novel standard of care, particularly after the so-called “MOMS Trial”. This trial, published in the New England Journal of Medicine, has indisputably shown that overall, open prenatal repair is distinctly better than postnatal care alone. Finally, a number of important other topics deserve being mentioned, including the necessity to work on the up till now immature endoscopic fetal repair technique and the need for concentration of these extremely challenging cases to a small number of really qualified fetal surgery centers worldwide. In conclusion, despite the fact that in utero repair of MMC is not a complete cure and not free of risk for both mother and fetus, current data clearly demonstrate that open fetal–maternal surgery is to be recommended as novel standard of care when pregnancy is to be continued and when respective criteria for the intervention before birth are met. Undoubtedly, it is imperative to inform expecting mothers about the option of prenatal surgery once their fetus is diagnosed with open spina bifida.     

脊髓拴系松解术后脊柱裂患者的肛管直肠功能研究

目的：与临床对于脊柱裂致膀胱功能障碍的大量研究报道相比,关于脊柱裂患者的肠道功能障碍研究资料非常有限。该文拟研究脊柱裂患者行脊髓拴系松解术后的肛管直肠功能。方法：采用多通道肛管直肠测压技术对因排尿功能障碍而来就诊的21例脊柱裂患者进行肛管直肠功能检测,入选患者皆已于至少2年前行脊髓拴系松解术。结果：脊柱裂患者的最大肛管静息压低于对照组,但二者没有统计学差异(P=0.372)。在嘱脊柱裂患者行最大限度收缩肛门动作时,绝大多数患者肛管压力没有任何升高。在行模拟排便动作时,19例(90.5%)患者表现为盆底功能紊乱型肛管压力变化。直肠肛管抑制反射在所有受检者均存在,诱发该反射所需最小直肠气囊容量在脊柱裂患者组和对照组间差异无显著性(P=0.725);诱发持续性直肠肛管抑制反射所需直肠气囊容量在脊柱裂患者组显著性高于对照组(P<0.001)。直肠感觉阈值在脊柱裂患者显著高于对照组(P<0.0001)。结论：大多数脊柱裂患者不能自主收缩肛门外括约肌,排便时表现为盆底功能紊乱型直肠肛管压力曲线,同时直肠感觉功能也受到严重损害。直肠肛管抑制反射在所有脊柱裂患者均存在,该反射可能受到中枢神经系统的调控。     

隐性脊柱裂流行病学及诊疗研究进展

隐性脊柱裂(spina bifida occulta,SBO)是指有一个或数个椎骨的椎板闭合不全,脊柱背侧皮肤完整,椎管内的脊髓及神经组织不会直接突出于皮肤表面的脊柱裂.SBO可发生于脊柱任何部位,但常发生于腰骶部,可伴有脊髓神经发育畸形,产生神经系统、泌尿系统、消化系统以及运动系统等一系列临床症状和体征.SBO若伴有脊髓神经损伤会影响脊髓的正常解剖,使其受到异常牵拉,局部缺血、缺氧,可造成神经功能障碍而产生一系列临床症状,称脊髓栓系综合征(tethered spinal cord syndrome,TCS).国内外目前对SBO特别是合并TCS时的诊治存在一定争议,故本文就SBO的病因、发病率、及诊断治疗研究进展进行综述.     

Giant terminal lipomyelocystocele

Terminal myelocystocele is a rare form of occult spinal dysraphism in which the hydromyelic caudal spinal cord and the subarachnoid space are herniated through a posterior spina bifida. A 1-year-old female child presented with a large lumbosacral mass (30 x 20 x 10 cm), flaccid paraplegia and urinary incontinence since birth. Magnetic resonance imaging revealed a low-lying conus (with associated conus lipoma) and a dilated central canal surrounded by a meningocele suggestive of terminal lipomyelocystocele and was operated on successfully. In our experience, this was a giant terminal lipomyelocystocele and such a large lesion has not been reported in the literature before. Terminal myelocystocele should be included in the differential diagnosis of congenital lesions presenting as a lumbosacral mass and operated early.     

Fetal anal incontinence evaluated by amniotic fluid digestive enzyme assay in myelomeningocele spina bifida

The goals of this study were to determine whether anal sphincter dysfunction in spina bifida develops during fetal life or after birth and whether it reflects the severity of spina bifida and therefore can be used as a criterion to select the cases that could benefit from in uterosurgery. Total protein and digestive enzyme activities [gamma-glutamyl transpeptidase (GGTP), aminopeptidase M (AMP), and alkaline phosphatase isoenzymes including the intestinal form (iALP)] were assayed retrospectively in amniotic fluid from 80 myelomeningocele spina bifida cases without unrelated associated malformation (gestational age 14-33 wk). A normal enzyme activity profile was observed in 46 of the 80 cases. Two abnormal profiles were observed: 1) bilious vomiting, characterized by abnormally high GGTP and AMP activities but normal iALP, and 2) digestive enzyme leakage, characterized by abnormally high activities of GGTP, AMP, and iALP, typical of anal incontinence. No relation was observed between these enzyme activity profiles and the different secondary signs of spina bifida or the level of the damage. In conclusion, anal sphincter dysfunction in spina bifida revealed by amniotic fluid digestive enzyme activities occurred before 24 wk in fetal life in 28.7% of cases. This criterion may be indicative of the severity of spina bifida and therefore perhaps could be used to select cases that are suited to in utero surgery. It could also be used to establish the potential benefit of this surgery in fecal incontinence.     

Thoracic meningocele, meningomyelocele or myelocystocele? Diagnostic difficulties, consequent implications and treatment

Spina bifida cystica is a closing disorder of the neural tube which infrequently occurs in the thoracic region. A rare lesion called myelocystocele is a variant of spina bifida cystica and is associated with syringomyelia, Chiari type 2 malformation and hydrocephalus. Usually the patient has no neurological deficit, but future deterioration can occur due to posterior tethering of the spinal cord by adhesions. The prenatal diagnosis by ultrasound study can be misleading and in order to attain the correct diagnosis, especially if abortion is considered, a prenatal MRI scan should be done before the parents are counselled, and should be repeated prior to operative treatment. Surgical correction of myelocystocele is not only for cosmetic reasons, but also to untether the spinal cord prophylactically to prevent future neurological deterioration. In this case report, we present a child born with a thoracic myelocystocele, the diagnostic difficulties, consequent implications and surgical treatment.     

Increased incidence of spina bifida occulta in fluorosis prone areas

Spina bifida, a congenital deformity of the posterior wall of vertebrae of the spine, is a midline defect of skin, vertebral arches and neural tube, usually in the lumbosacral region. Its incidence is reported to be 0.2 to 0.4 per 1000 live births. Various hypotheses have been put forward as etiological factors for spina bifida including consumption of potato affected by blight and hardness of drinking water but these have not been proven. Two groups of 50 randomly chosen children were established. The study group consisted of children aged 5 to 12 years, weighing 15 to 30 kg, consuming fluoride rich drinking water (4.5 and 8.5 ppm fluoride; WHO permissible limit is 1.5 ppm fluoride), and manifesting either clinical, dental and/or skeletal fluorosis. The control group consisted of age and weight-matched children, consuming less than or equal to 1.5 ppm fluoride in drinking water and not showing any evidence of fluoride toxicity. These children were evaluated for antenatal history, general clinical examination (especially for dimples, tufts of hair, haemangioma on skin throughout the length of spine), other congenital abnormalities, evidence of fluoride toxicity, biochemical estimation for fluoride levels in blood and serum and by skiagrams of the spine to examine for the presence of spina bifida occulta. A total of 22 (44%) of the 50 children in group A, the study group, and 6 (12%) of the 50 children in group B, the control group, revealed spina bifida occulta in the lumbosacral region. The proportion of children with spina bifida occulta in these fluoride rich areas was thus 44%. Since this defect occurs during the antenatal period, these observations indicate that an association may exist between spina bifida occulta and high fluoride intake during the antenatal period.