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(a) Axial gray scale ultrasonography of swelling shows heteroechoic cystic lesion with linear echogenic strands within. (b) Axial ultrasonography image of lumbar spine shows syringomyelia. (c) Sagittal T2-weighted fat suppressed image shows lumbosacral meningomyelocele. Visualized kidney shows hydronephrosis. (d) Sagittal T2-weighted fat suppressed image shows oblique hypointense anteroposterior bar in spinal canal at the lower dorsal level and multilevel vertebral segmentation anomalies. Dilate upper pole moiety (collecting system) of the kidney is also visualized.(e) Coronal T2-weighted shows lumbosacral meningomyelocele, two spinal cords from about mid-dorsal level till termination with a syrinx in right-sided hemicord and obliquely oriented T2 hypointense spur. (f) Axial T2-weighted fat suppressed image shows two spinal cords with syrinx in right-sided hemicord d c
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Context
Spinal dysraphisms are congenital abnormalities of the spine due to imperfect fusion of midline mesenchymal, bony and neural structures. Imaging plays a vital role in their evaluation as significant portion of patients may present with concurrent anomalies that need to be corrected simultaneously to avoid repeat surgeries.
Aims
The aims of...
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Citations
... In our patient, ultrasound was necessary to diagnose the multitude of renal abnormalities present. To rule out hidden spinal pathologies like tethered cord or cord lipoma, it is advised for all neonates to undergo spinal ultrasonography or MRI [11,12]. ...
Patient: Female, Newborn
Final Diagnosis: Cloacal dysgenesis sequence
Symptoms: Abdominal laxity • ambiguous genitalia without urethra or vaginal opening • ascites • club foot • diminished abdominal musculature • large, distended abdomen • no presence of any perineal opening
Clinical Procedure: —
Specialty: Surgery
Objective
Congenital defects/diseases
Background
Cloaca malformations result from a disproportion of apoptosis, cell growth, and maturation. The range of cloacal malformations is extensive and diverse, with a lack of a straightforward classification system. Cloacal dys-genesis sequence (CDS), also known as urorectal septum malformation sequence, is a rare cloaca variant described as the absence of a perineal orifice. Prenatal magnetic resonance imaging and antenatal ultrasounds may reveal a cloacal malformation; however, many patients are not diagnosed with cloacal malformation until birth.
Case Report
We present a case of a female neonate delivered by a 23-year-old G2P1T1A0L0 mother who had received comprehensive prenatal care. During pregnancy, bilateral multicystic dysplastic kidneys were identified prenatally, leading to the in utero placement of a vesicoamniotic shunt. The physical exam revealed a distended abdomen with reduced abdominal musculature and laxity, ascites, a vesicoamniotic shunt in place, absent urethra, ambiguous genitalia with no vaginal opening, no perineal opening, and clubfoot. Abdominal radiograph showed findings consistent with significant abdominal ascites. An exploratory laparotomy was performed that included diverting colostomy, mucous fistula creation, tube vaginostomy, removal of the vesicoamniotic shunt, and suprapubic tube placement. The patient recovered well from this operation with no complications.
Conclusions
CDS is an uncommon condition in pediatric patients, and although sonographic findings can reveal urinary tract abnormalities, prenatal imaging might not always identify CDS. Our case underscores the uniqueness of the case and the significance of early detection and immediate medical and surgical intervention.
... The most common clinical finding at presentation was also midline back swelling (60.53%); however, the next common finding was urinary incontinence (47.37%), followed by skin dimple in back (28.95%), fecal incontinence (21.05%), hair tuft (3.33%), and dermal sinus (3.33%) (7). According to site of spinal anomalies, 80% had lumbosacral involvement. ...
... patients. The cervical and dorsal regions were involved in 4 (10.52%) and 1 (2.63%) patient, respectively (7). Also, a study reported that Lumbosacral spine was the most common region involved in 32 patients (71.1%). ...
... It was observed that lumbosacral involvement was most frequently encountered in 7 patients (35%), after which was the lumbar spine in 6 patients (30%), sacrococcygeal in 5 patients (25%), and lastly dorsolumbar in 2 patients (10%) (8 (9). However, another study found that closed spinal dysraphism (63.16%) was more common than open (36.84%) (7). Among the studied patients with open spinal dysraphism, the subtypes observed were myelomeningocele in 35.56% of total subjects followed by dorsal dermal sinus in 13.33% and myelocele in 2.22%. ...
... However, this is not consistent with the second most common anomaly, which was tethered cord (30.2%) in our study but was diastematomyelia in Ramacharya and his colleagues study, as our study is conducted at age group (0-24 months old), and diastematomyelia is usually discovered at older age group as it is an occult type, unless it was associated with other anomalies or causing early motor or sensory manifestations. Pediatric spinal dysraphisms were seen affecting the lumbosacral region more than any other part in the spine in our study which was confirmed by Dhingani et al. [22]. ...
... Radiography is a screening modality for congenital spinal abnormalities involving the bones. US is considered a good imaging tool for assessment of these anomalies in prenatal period, but in postnatal period, it can be used only as screening modality as it can detect dysraphism with cystic part; however, in CSD, it has lesser sensitivity than MRI [22]. ...
... The most common clinical finding at presentation was also midline back swelling (60.53%); however, the next common finding was urinary incontinence (47.37%), followed by skin dimple in back (28.95%), fecal incontinence (21.05%), hair tuft (3.33%), and dermal sinus (3.33%) [17]. In our study, lumbosacral spine was the most common region involved in 32 patients (71.1%). ...
... We shared comparable results with Dhingani et al. who found that the lumbosacral spine was the most commonly involved spinal segment found in 52.63% of patients, followed by sacrococcygeal region (34.21%) [17]. ...
... Our study results as regards spinal ultrasound are comparable with study by Dhingani et al. which showed that the most common anomaly was tethered cord seen in 23 (79.31%) patients, syrinx (62.06%), MMC (48.27%), and lipomyelomeningeocele (27.58%) [17]. And another study by Taahira Nishtar et al., which revealed that 2 of the studied 53 patients (4%) has diastematomyelia [18]. ...
Background
Spinal dysraphism (SD) is a spectrum of congenital disorders. MRI is the gold standard technique for diagnosis of SD. Spinal ultrasonography (USG) can be used as a screening tool for SD in infants. The purpose of our study is to assess the diagnostic value of spinal USG in the diagnosis of spinal dysraphism in pediatrics compared to MRI as a gold standard technique. Our prospective, cross-sectional study involved 45 infants and children with suspected spinal dysraphism. All patients were subjected to supervision of their medical history, full neurological examination, spinal ultrasonography and anatomical spine assessment by conventional MRI examination including sagittal and axial T1W & T2W, sagittal & coronal STIR imaging. Comparison of spinal USG with MRI findings was done.
Results
There is excellent overall agreement between MRI and ultrasound diagnosis in the evaluation of spinal cord morphology and bony elements in patients aged ≤ 2 years old ( κ = 0.96 and 0.98) respectively, and fair overall agreement between MRI and ultrasound diagnosis ( κ = 0.58) in patients aged > 2 years old. The accuracy of spinal USG in diagnosis of spinal dysraphism in patients aged ≤ 2 years old was as the following: specificity (94.5–100%), sensitivity (84.3100%), PPV (86.7–100%) and NPV (85.7–100%), as compared to MRI.
Conclusion
Spinal ultrasound can be used as a first-line screening investigation for SD; patients with USG abnormalities proceed to MRI. Spinal ultrasound is of no worthy value after the age of bone ossification, and MRI is the best modality of diagnosis in older pediatrics.
... Dhingani et al. reported that 79.31% of cases showed full agreement between LUS and MRI examinations and 20.69% partial agreement. LUS can be used as the initial modality for evaluation of spinal dysraphism as well as for screening of suspected cases [7]. Hughes et al. reported 40% full agreement between LUS and MRI examinations, 47% partial agreement, 13% no agreement, and 90% agreement in low-lying cord location [2]. ...
Objectives
The purpose of this study was to correlate lumbosacral spinal ultrasound (LUS) and magnetic resonance imaging (MRI) findings in patients with lumbosacral spinal dysraphisms to evaluate the value of LUS in diagnosis, intraoperative use, and during follow-up of those patients.
Methods
A total of 24 patients aged up to 6 years old were operated for lumbosacral spinal dysraphisms at the Neurosurgery Department of Zagazig University hospitals during the period from January 2017 to August 2018. All patients were investigated preoperatively, intraoperatively, and on follow-up by LUS to compare the data with preoperative and follow-up MRI of the spine.
Results
The median age was 11 months at the time of surgery. The most common anatomical description from the LUS study was thickened filum (18 cases). Using MRI findings as the standard reference, the sensitivity of LUS in detecting a thickened filum was 77.8% preoperatively and 62.5% postoperatively, with a specificity of 100%. The sensitivity and specificity of detecting conus level, solid masses, and cystic masses were 100%.
Conclusions
Lumbosacral spinal dysraphisms can be evaluated well by ultrasound imaging in age group up to 6 years old with 100% specificity (true negative) in comparison with MRI.
... и Trenga A.P. с соавт. превосходит другие методики в точном определении характера спинальной дизрафии и является способом наиболее точной визуализации [28][29][30]. Однако подробного описания МРТ-семиотики при различных типах диастоматомиелии ни в одном из исследований не приводится. ...
... Nevertheless, the use of MRI is limited by its cost, availability, and the need for sedation in many children. Despite these limitations, MRI is still recommended as the preferred imaging modality when there is high pretest probability (high-risk findings) [1,[10][11][12][13]. ...
... Ultrasound (US) is a noninvasive screening modality that may be used for infants up to 6 months of age before ossification of the vertebral bodies; on the other hand, it is operator dependent and less sensitive than MRI [11][12][13][14][15][16]. ...
... The ability to retrieve multiplanar 3D images at any time should mean that for clinicians, 3D US will be as easily interpretable and therefore as acceptable as spinal MRI. Nevertheless, many studies evidenced that MRI is the current Bgold standard^test for detecting OSD but it should be performed in high-risk conditions, in markers association group, and when US is abnormal [10][11][12][13]. ...
PurposeThe purpose of this paper is to investigate occult spinal dysraphisms (OSD) using lumbar ultrasonography (LUS) in newborns presenting with specific skin markers or sacrococcygeal dimple. Method
From 2012 to 2015, we performed LUS in newborns with cutaneous stigmata and/or sacroccygeal dimple. Magnetic resonance imaging (MRI) was performed in all patients with abnormal ultrasound or features of neurological involvement in order to detect spinal lesions. ResultsWe prospectively evaluated 475 newborns who presented cutaneous stigmata performing LUS during their 4 weeks of life though 439 completed the study. All patients had a follow-up of almost 12 months. Of these, 39 presented abnormal ultrasonography and underwent MRI. In this group, spinal dysraphism was confirmed in 12 patients. When considering skin markers, dermal sinus correlated with higher risk of spinal cord lesions, on the other hand the presence of simple sacral dimple alone denoted a very low risk of occult spinal dysraphism. The simultaneous presence of more skin markers and/or the presence of lumbar ultrasonography abnormality regarding the level of the conus, pulsatility, and the position of the cord, thickness of the filum terminale, or the presence of an intratecal mass, lipoma, or dermal sinus tract indicated the necessity to perform MRI in order to detect spinal cord abnormalities because of higher risk of spinal lesions. ConclusionLUS in newborns with specific skin markers is a valid method to select patients in which MRI can be performed to detect OSD. The presence of a simple sacral dimple alone is a negligible marker for occult neural pathology while the presence of isolated dermal sinus or more than one cutaneous marker could be considered indicative of higher risk of spinal dysraphism.
... These factors may account for the low prevalence observed in fetal malformations in our series (1.55%), which rate is consistent with that observed in the local and also international literature, about 1.98 to 2.9% [3][4][5][6]. The best rates of detection reported are in the central nervous system with 37 to 77% [4,5,7]. Our series included 64.42% of malformations localized in the neural tube. ...
... Pozitivan EHO nalaz ("lemon sign" i "banana sign") uz nivoe AFP u serumu majke, AFP i AhE u amnionskoj tečnosti u odgovarajućim periodima trudnoće, gotovo sa sigurnošću mogu dovesti do dijagnoze otvorenog spinalnog disrafizma. (13,14,15,16) Ove trudnoće treba na vreme prekinuti. Ukoliko dijagnoza nije postavljena na vreme, trudnoću treba završiti carskim rezom da bi se sprečila mehanička oštećenja koja mogu nastati tokom samog porođaja. ...
Spina bifida je jedna od najkompleksnijih i najtežih urođenih anomalija. Raniji naziv spina bifida danas je potisnut terminima „defekt neuralne tube“ (NTDs) i „spinalni dizrafizam“ koji mnogo bolje determinišu njenu suštinu. U osnovi ove anomalije je neadekvatno „zatvaranje – srastanje srednje linije„ kičmenog stuba te je termin spinalni dizradfizam najadekvatnji. Defekt srastanja srednje linije može nastati u različitim nivoima kičmenog kanala te govorimo o cervikalnom, torakalnom, lumbalnom i sakralnom spinalnom disrafizmu. Spinalni disrafizam se javlja u dva osnovna entiteta – otvoreni i zatvoreni, koji se suštinski razlikuju. Incidenca ove anomalije u svetu pokazuje geografsku i etničku osobenost – najčešća je kod keltskih naroda (12,5 na 10.000 ž.r.), a retka je kod azijata i u crnačkoj populaciji. Devojčice češće obolevaju nego dečaci. Etiologija je još uvek nepoznata. Dijagnoza otvorenog spinalnog dizrafizma se mora postaviti prenatalno. Otvorenu spinu treba operisati u prvih 48h po rođenju, pogotovu ako je rupturirana. U svetu postoje medicinski centri gde se primenjuje prenatalni – fetalni hirurški zahvat. Benefit ovakvih hirurških zahvata još uvek nije dokazan. Zatvoreni spinalni dizrafizam je veoma podmukla, prikrivena anomalija, te stoga i naziv okultni spinalni dizrafizam (OSD). Incidenca ove anomalije je nepoznata, zna se samo da je češća kod ženske dece. Etiologija je takođe nepoznata. Dijagnozu OSD je praktično nemoguće postaviti prenatalno. Izuzetno važan problem u sklopu spinalnog disrafizma je „tethered cord sy“ koji označava stanje u kome je kičmena moždina pričvršćena za neku nepokretnu strukturu kao što je dura, pršljen, lipom, koža. Lečenje spinalnog disrafizma je izuzetno kompleksno i zahteva multidisciplinarni pristup.
INTRODUCTION: Central nervous system malformationsare frequently encountered anomalies owing to derangements in the neurulation process of spinal in the embryonic period. These are broadly categorized into 1) open spinal dysraphism and 2) closed spinal dysraphism, based on skin/sub cutaneous tissues coverage. Masquerading diseases may present with similar clinical presentation. Neuro-imaging plays an essential role in differentiating between neural tube defects and mimicking disease hence facilitate appropriate diagnosis and pre-surgical planning. OBJECTIVE: To assess the frequency of congenital central nervous system (CNS) malformations and masquerading diseases in the pediatric patients presenting with congenital posterior midline lumps at the head, neck and back using MRI brain and spine in the Radiology department of the national institute of child health (NICH). METHODS: Design: This is a descriptive, retrospective cross-sectional analysis. Setting: Radiology department of national institute of child health (NICH). Electronic data from November 2021 to October 2022 of MRI brain and spine of pediatric patients below 15 years presented with congenital posterior midline lumps were collected and analyzed on SPSS version 26. RESULTS: Total 201 pediatric patients were evaluated. There was a balanced gender distribution between male 91(45%) and female 110(54.7%). The most common presenting complaint was congenital lumbar posterior midline lump. Myelomeningocele was the most common diagnosis (61.2%) followed by lipomyelocele and lipomyelomeningocoele (4%). Notably, the most common association was found to be hydrocephalus (38.8%), syrinx (23.9%) and tethered cord (20.9%). Most prevalent masquerading disease was sacrococcygeal teratoma then macrocystic lymphatic malformation. Soft tissue hemangioma, hematoma and neurogenic tumor were also found in few patients. CONCLUSION: This study emphasizes the significance of neuroimaging detection of not only spinal dysraphism but other masquerading diseases as well. Early recognition of key imaging features of such malformations and mimicking diseases facilitates appropriate intervention hence plays acrucial role for therapeutic strategy and clinical outcome.
