European Journal of Cardiovascular Medicine

Spinal dysraphism is one of the most common congenital disorders associated with significant morbidity and mortality. They are second most common congenital anomaly after congenital heart disease. Estimated prevalence of spinal dysraphism in world is about one to three per 1000 live birth. Most common Neural tube defect in developing countries like India is spinal dysraphism. The incidence varies from 0.5-11 per 1000 live births in different parts of India. Incidence of spinal dysraphism is more common in lower socioeconomic strata of the population [1][2].

Most common site for congenital and developmental anomalies of spine is lumbosacral spine, involved in 90% of cases, followed by the thoracic spine (6%–8%) and cervical spine (2%–4%). Adequate fetal spine development is dependent on antenatal care and maternal nutrition; thus, socioeconomic conditions in country plays major role in determining incidence of spinal dysraphism. In the last few decades, high- resolution ultrasound for prenatal screening and biochemical markers, improved antenatal care, better nutrition for women, and folic acid supplementation have all contributed to a decline in the prevalence of spinal dysraphism around the world [3][4].

Multiple factors are responsible for development of spinal dysraphism. Etiopathogenesis of development of spinal dysraphism is based on interaction of Genetics, Nutrition and Environment factors. Out of which most important factor contributing to spine developmental errors is genetic factors. MTHFR, MTHFD1, MTRR, VANGL1, VANGL2, CELSR1, and FUZ, as well as variants in the T locus on chromosome 6q has been studied for their role in development of spinal dysraphism. A few of the environmental factors that play a role in the developmental process of a mother include maternal obesity, poor nutrition, smoking, hyper-homocysteinemia, sedentary behavior, and mental stress. These factors may also lead to inflammation and excessive oxidative stress, which accelerate maternal biologic aging through faster telomere shortening. Prophylactic supplementation of folic acid in the antenatal period is recommended to reduce incidence of spinal dysraphism.

Defects in early embryonic stages produce spinal dysraphism, which are characterized by anomalous differentiation and fusion of dorsal midline structures. Spinal dysraphism may be categorized clinically into two subsets [5].

In open spinal dysraphism, the placode (non-neurulated neural tissue) is exposed to the environment. These disorders include myelomeningocele, myelocele, hemimyelomeningocele, and hemimyelocele, and are always associated with a Chiari II malformation [4].

Closed spinal dysraphism are covered by intact skin, although cutaneous stigmata usually indicate their presence. Two subsets may be identified based on whether a subcutaneous mass is present in the low back. Closed spinal dysraphism with mass comprise lipomyelocele, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphism without mass comprise complex dysraphic states (ranging from complete dorsal enteric fistula to neurenteric cysts, split cord malformations, dermal sinuses, caudal regression, and spinal segmental dysgenesis), bony spina bifida, tight filum terminale, filar and intradural lipomas, and persistent terminal ventricle [6].

Serious congenital anomaly with severe Neurologic, Genitourinary, Bowel and Musculoskeletal anomalies are seen with open spinal dysraphism which is more common than closed spinal dysraphism. It encompasses four main forms namely myelomeningocele, myelocele, hemimyelomeningocele and hemimyelocele. Most of the anomalies are evident at birth with greater incidence in female than in male and are immediately taken for surgical repair.

Presentation with minor Neurological manifestations and detection at later age is common with closed spinal dysraphism. Cutaneous lesion with high index of suspicion for spinal dysraphism are hypertrichosis, atypical dimples, pseudo tails/true tails, lipomas, hemangiomas, aplasia cutis or scar and dermoid cyst or sinus.

Spinal segmentation anomalies are frequently seen with spinal dysraphism. Spinal curvature anomalies like Scoliosis, Kyphosis, and Lordosis are caused by muscle imbalances caused by motor deficits. Scoliosis is the most common type of spinal curvature anomaly. Chiari malformations, the formation of syrinx, and hydrocephalus are among the anomalies that are frequently associated with spinal dysraphism. The diagnosis and treatment of spinal dysraphism rely heavily on imaging. The various imaging techniques that can be used are plain radiograph, ultrasonogram, CT, and MRI.

Plain radiographs (anteroposterior and lateral views) are mandatory for evaluation of the vertebral column [7,8]. The findings seen on plain radiographs include focal spina bifida, widened spinal canal, scoliosis, segmentation anomalies like block vertebrae, butterfly vertebrae, and other congenital abnormalities. In cases of diastematomyelia, there may be a bony spur. Radiographs are used as preliminary screening examination that can help to guide further imaging workup. Radiograph provide only limited information, so for further characterization of the lesion cross sectional imaging like MRI is necessary.

USG is primarily useful in antenatal diagnosis of spinal dysraphism and also of use in neonate and infant. It becomes progressively less useful as ossification of posterior elements proceed during 1st year of life. Direct sonography of the sac in children using high frequency transducers can provide information regarding the contents of the sac. Sonography of the brain plays an important role detection hydrocephalus and Chiari malformations which are commonly associated with spinal dysraphism.

Diastematomyelia, vertebral segmentation defects, and spinal curvature anomalies can all be demonstrated using CT. Bony septum of diastematomyelia is well seen on CT. CT can diagnose various types of spinal dysraphism based on the attenuation characteristics of their contents, for example Fluid attenuation is seen in Meningocele, Fluid and soft tissue attenuation is seen in Myelomeningoceles and fat attenuation is seen in spinal lipomas. MRI is better in detection of syrinx, Hydrocephalus and Chiari malformations than CT due to its better soft tissue resolution.

Since MRI is an accurate and non-invasive method of assessing spinal dysraphism [8], it is the preferred technique. Evaluation of the entire spinal cord, contents of the back mass, and the detection of cord tethering, associated syringomyelia, Chiari malformation, hydrocephalus, and other associated abnormalities are made possible by the multiplanar images, wide field of view, and excellent contrast resolution. T1- weighted (T1W) images demonstrate the malformation in the majority of the cases. T2-weighted (T2W) images are helpful in the demonstration of syrinx and associated pathologies like dermoid and epidermoid cyst [9,10]. Fat Suppression Sequences are very useful in detection of spinal lipoma. Dorsal dermal sinus can be effectively evaluated by MRI. Bony septum in Diastematomyelia is best demonstrated by CT while fibrous septum in Diastematomyelia is best depicted by MRI. Closed spinal anomalies like Split cord malformation I and II, location, its extent, site of re-joining of two hemicords and associated anomalies are best demonstrated by MRI.

Main objectives of the study: To assess the role of MRI in a). To determine the range of spinal dysraphism lesions. b). Identifying the various types of spinal dysraphism and classifying lesions according to those types. c). A description of the abnormalities and lesions associated with spinal dysraphism. d). Making a general diagnosis based on specific imaging results.

This observational cross-sectional study was conducted at B.J. Medical College and Civil Hospital in Ahmedabad, Gujarat, India. The study design involved a descriptive analysis of data collected from patients admitted to the radiodiagnosis department over a period of two years (August 2020 to August 2022). A total of 100 patients were recruited for this study, comprising 45 males and 55 females with ages ranging from birth to 30 years

The inclusion criteria for this study are as follows: all cases of open spinal dysraphism, lumbosacral swelling, and patients with various cutaneous lesions such as hypertrichosis, atypical dimples, pseudotails, lipomas, hemangiomas, aplasia cutis/scar, dermoid cyst/sinus, and others are eligible for inclusion.

The exclusion criteria include patients who cannot understand consent forms or refuse to sign the form, those with incompatible MRI-compatible orthopedic implants, vascular clips, dental implants, cardiac pacemakers, anencephaly, physical abnormalities caused by spinal neoplasms (e.g., Friedreich's ataxia, cerebral palsy), poliomyelitis, and local conditions of the feet. These criteria were chosen to ensure that only patients with a specific set of conditions are included in the study, allowing for a more focused analysis of the relationship between spinal dysraphism and associated cutaneous lesions.

MRI examinations were conducted using a 1.5 T Philips scanner with patients in the supine position, utilizing head and spine array coils. Anesthesia was administered as clinically necessary by an anesthesiologist. The imaging protocol included whole spine and brain screening without intravenous contrast. Sequences for the whole spine comprised axial, sagittal, and coronal T2 TSE; axial and sagittal T1 TSE; sagittal STIR; sagittal T2W-FLAIR; and myelography images. Brain screening sequences included DWI and ADC, axial T2 TSE, sagittal T1 TSE, and axial T2W FLAIR. Data was subsequently entered into MS Excel for descriptive statistical analysis.

MRI characteristics of various lesions: Signal Intensities of lesion in T1-W, T2-W and flair sequences

• Only CSF signal intensity lesions are
• If there is present of CSF Intensity and Neural tissue lesion is
• If only neural tissue herniates out through spina bifida than diagnosis is
• If Fat intensity and neural tissue are present within lesion it is
• Lesion containing Fat intensity, CSF intensity and neural tissue are
• Lesion containing only Fat intensity are intradural lipomas, filar

TABLE 1: OPEN SPINAL DYSRAPHISM – GENDER BASED DISTRIBUTION

Ratio of Male to Female is 1:1.21.

TABLE 2: CLOSED SPINAL DYSRAPHISM-GENDER BASED DISTRIBUTION

Closed spinal dysraphism accounted for 35% of the total 100 cases. Spinal lipoma is most common form of closed spinal dysraphism accounting for 45.71% of the total 35 cases.

TABLE 3: OPEN SPINAL DYSRAPHISM - AGE BASED DISTRIBUTION

All cases of open spinal dysraphism occurred in 1 – 10 age group.

TABLE 4: CLOSED SPINAL DYSRAPHISM – AGE BASED DISTRIBUTION

All cases of dorsal dermal sinus, meningocele, and sacral agenesis occurred in the 1–10 yrs age group. In contrast, spinal lipoma, diastematomyelia, and sacral meningocele were present in both the 1–10 and 11–20 yrs age groups. All forms of closed spinal dysraphism were absent in the 21–30 yrs age group.

Mean age of presentation is 5.67 years.

TABLE 5: SPINAL LIPOMAS

Lip meningomyelocele is the most common type of spinal lipoma accounting for 62.5% of the total cases.

TABLE 6: CUTANEOUS MANIFESTATIONS OF CLOSED SPINAL DYSRAPHISM

The most common cutaneous manifestation is palpable mass in the back; accounting for 16 out of 35 cases.

TABLE 7: DIASTEMATOMYELIA: SITES OF INVOLVEMENT IN THE SPINE

In open spinal dysraphism the most common site of occurrence of Diastematomyelia is dorsal region. In closed spinal dysraphism Diastematomyelia occurred more commonly in lumbar region.

TABLE 8: INCIDENCE OF DIASTEMATOMYELIA

Incidence of bony type of Diastematomyelia in both form of spinal dysraphism is higher than Fibrous type.

TABLE 9: ASSOCIATED VERTEBRAL ANOMALIES

Spinal bifida is the most common vertebral anomaly occurring in 86 % of total Cases.

TABLE 10: DISTRIBUTION OF SPINA BIFIDA IN SPINE

Spina bifida occurs in 86% of the total cases. Lumbosacral spine is most common site of occurrence in both open and occult spinal dysraphism.

Figure 1: Spina bifida and Distribution in spine

TABLE 11: DISTRIBUTION OF SPINAL DYSRAPHISM IN SPINE

The most common site of occurrence of spinal dysraphism is Lumbo-sacral spine in both type of spinal dysraphism.

Figure 2: Distribution of spinal dysraphism in spine

TABLE 12: SPINAL CURVATURE

Kyphosis is most common in Open SD, whereas Scoliosis is more common among occult SD cases. Overall, the most common spinal curvature anomaly is scoliosis.

TABLE 13: PRESENCE OF TETHERING OF CORD

Among all the anomalies, sacral agenesis and Anterior Sacral Meningocele have the highest incidence of tethering of the spinal cord. In contrast, Meningocele has lowest incidence rate of tethering among all the anomalies.

TABLE 14: SYRINX ASSOCIATION IN SPINAL DYSRAPHISM

Syrinx occurred in 40%. It was found to be more common in open SD.

TABLE 15: HYDROCEPHALUS IN SPINAL DYSRAPHISM

Hydrocephalus is present in 49% of the total cases. Hydrocephalus is more common in Open spinal dysraphism, whereas least common in occult SD cases.

TABLE 16: ASSOCIATION OF CHAIRI MALFORMATION IN SPINAL DYSRAPHISM

Chiari II malformation is associated with open spinal dysraphism in 69.23% of cases. Chiari I & II malformation is associated with occult spinal dysraphism in 17.14% of cases.

A total of 100 cases of spinal dysraphism were analyzed using 1.5 T MRI.

Incidence: 65 of the patients had open spinal dysraphism, while 35 had closed spinal dysraphism, or 65% and 35%, respectively. This is comparable to the findings of a study by Kumar R. Singh et al., which found that open spinal dysraphism has a prevalence of 76.77% and closed dysraphism has a prevalence of 23.23% [11].

Gender: There were 29 males and 36 females with open spinal dysraphism, representing 44.61% and 55.38%, respectively, indicating female predominance (M: F 1:1.21), which is comparable to the Steinbok P et al [12] study.

In closed spinal dysraphism, there were 16 male cases and 19 female cases, representing 45.71 percent and 54.28 percent, respectively, indicating a distinct female predominance (M: F =1:1.18).

Age of presentation: None of the cases of open spinal dysraphism occurred after the age of two (mean age of presentation is 1.1 years), and all of the cases occurred during that time period.

Closed Spinal dysraphism patients typically presented in their first, second, or third decade, with the majority of cases occurring during the first decade. (The median presentation age is 5.67 years).

Cutaneous signs: The most common cutaneous sign of Closed Spinal Dysraphism was a mass in the back, mostly in the lumbar region (45.71 percent), followed by silky hair, a dermal dimple, a dermal sinus, a capillary hemangioma, and hypertrichosis. This is comparable to Kumar. According to R. Singh et al [11]'s study, lumbosacral swelling occurred in 57% of cases.

Open spinal dysraphism: Myelomeningocele was the most common lesion among open Spinal dysraphism patients, accounting for 64 out of 65 cases (98.46 percent), followed by myelocele (1.53%). Myelomeningocele had a prevalence of 72%, 2%, and 1%, respectively, in the study by Kumar R. et al [11]. The Cervical, Dorsal, Lumbar, and Lumbosacral regions were all affected. According to Singh.N. et al.'s 1969 study [11], the Lumbosacral region accounted for 38% of cases, followed by the dorsolumbar (13.8%) and lumbar (7.6%) regions.

Closed spinal dysraphism: Out of the 35 cases of closed SD, 16 (45.71%) were spinal lipomas. According to Naidich TP et al [13], Lipomyelomeningocele accounted for 62.5% of spinal lipomas, followed by Lipomyelocele (25%), and Filar lipomas (12.5%). There were six cases with a dorsal dermal sinus, or 17.14 percent. The dorsal dermal sinus was found to be 4.5% in the study by Kumar R. Singh et al [11]. In agreement with Fitz CR et al. and Love JG [14], meningocele accounted for 17.14 percent of our series SD. In agreement with Pang D. et al [15], anterior sacral meningocele and sacral agenesis accounted for 3% and 1% of the rare caudal spinal anomalies, respectively.

Diastematomyelia: There were 8 cases of open spinal dysraphism (53.33 percent) and 7 cases of occult spinal dysraphism (46.66 percent). Fibrous septum was more common than bone septum. Diastematomyelia was most common in the dorsal (5 cases), Dorsolumbar (1 case), and Lumbosacral (1 case) regions of open spinal dysraphism. Five cases of Occult SD Diastematomyelia were found in the lumbar region, followed by one each in the dorsal and lumbosacral regions. These findings are consistent with those of Han JS et al [16]. Myelomeningocele was the most common lesion in open spinal dysraphism, accounting for 64 cases out of 65 (98.46 percent), followed by myelocele in one case (1.53%). Myelomeningocele had a prevalence of 72%, 2%, and 1%, respectively, in the study by Kumar R. et al [11]. The Cervical, Dorsal, Lumbar, and Lumbosacral regions were all affected. According to Singh.N. et al.'s 1969 study, the Lumbosacral region accounted for 38% of cases, followed by the dorsolumbar (13.8%) and lumbar (7.6%) regions.

Tethering of cord: Tethering of the cord was found in 56 cases of open spinal dysraphism and 22 cases of closed spinal dysraphism or 78% of all cases.

Vertebral anomalies: Among the vertebral anomalies, Spina bifida was present in 86 of the 100 cases, making it the most common. Next came Hemivertebra (12%), Butterfly vertebra (8), Block vertebra (8), and other anomalies (2%) confirming the findings of the study by Tripathy P et al [17].

Spina bifida distribution: Spina bifida was most prevalent in the Lumbosacral spine (66.2%), followed by the lumbar spine (12.7%), the dorsolumbar spine (11.6%), the dorsal spine (4.6%), and the cervical spine (4.6%). This finding is in line with the findings of the study by Roy RN et al. Spinal curvature anomalies: Scoliosis was the most common spinal curvature anomaly (9 percent), followed by Kyphosis (8 percent) and Lordosis (2 percent). Scoliosis was more common in the lumbar spine (6 cases) than in the dorsal spine (3 cases) in open spinal dysraphism. The distribution of occult spinal dysraphism was also similar. Kyphosis was most prevalent in the lumbar spine, followed by the dorsal spine, in both open and occult spinal dysraphism. There was lordosis in the lumbar spine. The study by Barson AJ et al [18], which also demonstrated a predominance of scoliosis, was in line with these findings.

Syrinx: Syrinx was present in forty of the 100 cases, or forty percent. Occult Spinal dysraphism had 12 cases, while Open Spinal dysraphism had 28 cases. The incidence was 27%, according to Kumar R et al.'s study.

Chiari malformations: In open Spinal dysraphism, 45 of the 65 cases had a Chiari II malformation, or 69.23 percent. El Gammel et al [19]'s findings are consistent with these. Of the 35 cases of occult Spinal dysraphism, Chiari I was present in 6 cases, accounting for 17.14%.

Hydrocephalus: Hydrocephalus was present in 49 cases, accounting for 49%, correlating with the Comparative study of complex spina bifida and split cord malformation conducted by Kumar Raj, Singh SN et al.[11], which showed 46%.

When assessing spinal anomalies, magnetic resonance imaging (MRI) is extremely helpful. MRI is safe to use on infants and children due to its multiplanar capabilities, lack of ionizing radiation, and superior soft-tissue contrast. It also allows for the delineation of the spinal cord, subarachnoid space, vertebral bodies, and intervertebral discs. It has made it easier to diagnose these disorders and made it more likely that they can be treated earlier and according to each individual case. For the evaluation of spinal dysraphism-related soft tissue anomalies, particularly spinal cord anomalies, MRI is the preferred imaging technique.

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