Imaging of congenital anomalies and variations of the caudal spine and back in neonates and small infants

doi:10.1016/j.ejrad.2005.12.004

European Journal of Radiology

Volume 58, Issue 1, April 2006, Pages 3-14

https://doi.org/10.1016/j.ejrad.2005.12.004 Get rights and content

Abstract

Spinal dysraphisms are categorized in open dysraphisms with prominent abnormal nervous tissue above the skinlevel and closed dysraphisms with a skin covered malformation. Especially the occult dysraphisms are marked by suspect skin masses and other dermal anomalies. The purpose of this review is to demonstrate the indications and spectrum of spinal sonography in neonates and infants. In comparison typical dysraphisms are demonstrated in sonography and MR Imaging. We demonstrate the value of ultrasound in comparison to MRI and describe a usefull handling of the methods in neonates and infants. The differentiation between the potentially dangerous dimples associated with dermal sinus, which can lead to meningitis and the harmless coccygeal dimple in the cranial gluteal cleft is presented. An inconspicious examination does not need a further imaging, but suspicious results of sonography need an MR imaging dependent of clinical conditions. Neurologically conspicious infants need MR imaging completed by sonography. Great advantages of sonography are the real time examination and the potential to show oscillations of the conus, filum and cauda equina in M-mode-imaging.

Introduction

Spinal and spinal cord malformations termed dysraphism of the lower spine are categorized into open non-skin covered spinal dysraphism and closed spinal dysraphism. Closed spinal dysraphism can either present as meningocele or meningomyelocele-the spina bifida cystica. Infants with occult spinal dysraphism often demonstrate lumbosacral skin lesions along the midline. These patients develop first neurological symptoms at an average of age 3 [1]. An early diagnosis of spinal anomalies allows treatment before the occurrence of early symptoms such as disturbed motor function of the extremities or bladder and bowel incontinence. Imaging of the spine should be achieved in every case suspicious of a congenital anomaly of the spinal canal or the spinal cord. The preferred imaging modalities in infants up to the age of 1 year are spinal ultrasound and magnetic resonance imaging (MRI) of the spine. Diagnostic procedures requiring X-ray such as computed tomography and myelography should be avoided in infants except for rare indications because of the use of ionizing radiation and the low contrast of soft tissue structures at this age.

The purpose of this review is to demonstrate the spectrum of dysraphism in sonography in contrast to MR imaging and to demonstrate the management of imaging in suspected dysraphism of the lower spine in infants with focus on dermal dimples.

Section snippets

Skin anomalies

Cutaneous alterations as indirect signs of occult spinal dysraphism can be found in approximately 51% of instances [1], [2]. The review of the literature shows even higher numbers of skin lesions in spinal anomalies from 71 to 100% [3], [4], [5], [6]. Cutaneous stigmata that may indicate an underlying dysraphism of the lumbosacral spine are particularly sacral cutaneous dimples [7], pigment changes, nevi, hemangiomas [8], subcutaneous lipomas and other mesenchymal tumors, hypertrichosis or skin

Spinal sonography

Spinal sonography was described in the early 1990s as a screening method for the detection of occult spinal dysraphism [11], [12], [13], [14], [15], [16], [17], [18]. Since then the ultrasound examination of the spinal canal in newborns has become an established modality in pediatric imaging [19], [20]. The relevance of spinal ultrasound in comparison to MRI has been demonstrated in depth [21], [23]. Spinal sonography has consistently been shown to be a useful technique in the assessment of

Spina bifida cystica

Spina bifida aperta as a form of open spinal dysraphism is not an indication for sonography. In case of Spina bifida cystica covered by epithelized skin either the membranes that cover the spine or the spinal cord itself with the meninges protrude saccularly through a defect in the dorsal vertebral column elevated over the level of the skin surface. With ultrasound as well as MRI it is possible to visualize the relationship between the placode, cyst and the spinal canal. Both methods allow the

The coccygeal dimple

Powell et al. examined almost 2000 consecutive term newborn infants for cutaneous abnormalities and found that deep dimples and clefts were common and probably a normal variant [7]. In 1995 Zimmer and Bronshtein described ultrasound findings of an echogenic protrusion of approximately 3 mm in the lumbo-sacral region in six fetuses at 15–17 weeks’ gestation [34]. At birth in all six newborns dermal abnormalities such as pilonidal sinus, deep dimples, and scarred tissue were found. The authors

Conclusions

Spinal ultrasound and MRI are complementary imaging techniques in spina bifida cystica, whereas especially ultrasound allows a high resolution and benefits from fast availability. MRI should be performed to provide the surgeon with a comprehensive anatomic overview of the anomaly. When performed by an experienced examiner spinal ultrasound is a reliable method enabling the investigator to rule out an occult dysraphism; in cases with no clinical manifestations there is no need for further

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Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum, anorectal malformation (ARM) and presacral mass, can be extremely variable. The triad is often incomplete and 3 main CS phenotypical subtypes have been described: Complete, Mild and Minimal. Various associated malformations are often present. Mutations in the MNX1 gene are the main genetic background of CS, although they are not present in almost half of the cases. Aim of our study is to analyze the distribution of the 3 CS subtypes and the incidence of associated malformations in a large sample of patients and to add information about the role of the genetic testing in guiding the diagnostic and prognostic evaluation of CS patients.
A multicentre retrospective data collection was performed. CS patients' phenotype was accurately analyzed according to a diagnostic-therapeutic standardized data collection sheet. The distribution of the three CS types and the frequency of each associated malformation were calculated. The phenotype of the patients with a known genetic anomaly was compared to the phenotype of the population with no genetic diagnosis, in order to determine whether the presence of a known genetic defect could correlate with a more severe CS phenotype.
Data from 45 patients were analyzed. Twenty patients (44.5%) presented a Complete CS type, 19 (42.2%) a Mild CS and 6 (13.3%) a Minimal CS. In addition to the classical triad elements, 38 (84.5%) patients showed associated anomalies. The group of patients who resulted positive for a MNX1 mutation comprised a higher number (56.5%) of Complete CS cases than the group of patients that did not carry any MNX1 mutation (13%) (p = 0.0085). We could not find any relationship between CS subtype and the number of associated anomalies (p = 0.5102).
The presence of a MNX1 mutation seems to correlate with a more severe CS phenotype. MNX1 seems the main responsible for the expression and the severity of the CS triad, while the associated anomalies appear to be prevalently determined by genes sited on different loci. A thorough multidisciplinary diagnostic overview of CS patients should always include genetic counseling and analysis, both in postnatal and prenatal settings.
Retrospective Study.
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Dermal sinus: A neurosurgical emergency
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Le terme spina bifida regroupe plusieurs types de malformations congénitales, dont les dysraphismes spinaux fermés. Parmi ceux-ci, 10 % sont des sinus dermiques : communication ouverte au travers d’un pertuis entre la peau et l’espace intradural dont la principale complication est une infection du système nerveux central (SNC). Nous rapportons l’observation d’un enfant porteur d’une dépression cutanée de la région lombaire, initialement considérée comme une fossette sacro-coccygienne. Aucune indication neurochirurgicale n’avait été posée. À l’âge de cinq mois, puis de un an, l’enfant a présenté une infection intra-médullaire. L’imagerie par résonnance magnétique (IRM) a alors mis en évidence des empyèmes cérébraux, un œdème et des abcès intra-médullaires. Une intervention neurochirurgicale a été réalisée en urgence au décours de la deuxième myélite, qui a confirmé l’existence du sinus dermique avec une moelle attachée basse et permis de découvrir un kyste dermoïde accolé au pertuis. Deux ans après l’intervention l’enfant présentait une paraplégie des deux membres inférieurs associée à une vessie et un côlon neurologiques. Cette observation a pour intérêt de rappeler la différence entre une fossette sacro-coccygienne et un sinus dermique, associé à un kyste dermoïde dans 50 % cas. Les conséquences neurologiques des complications infectieuses dues aux sinus dermiques négligés rendent le traitement prophylactique neurochirurgical urgent. L’autre intérêt de cette observation est de présenter la prise en charge très spécialisée des conséquences de la paraplégie du petit enfant.
Spinal dysraphisms include various types of congenital malformations. About 10% are dermal sinuses, i.e., a connection between the skin elements and intradural space through an open tract. The major complication of this malformation is a central nervous system infection that occurs most frequently before the age of 5 years. We report the case of a lumbosacral skin defect initially described as a coccygeal pit, which happened to be a dermal sinus with a tethered cord after ultrasound imaging in a newborn infant. No indication for surgery was recognized. Later, the infant experienced cerebral empyema and spinal cord edema when he was 5 months old, while a second infection, with a medullar abscess, occurred 7 months later. Both infections began with high fever and were complicated by neurologic deficits. An emergency surgery was performed during the second myelitis. The operative findings confirmed a dermal sinus and a tethered cord. Moreover, they found a dermoid cyst next to the tract. After 2 years of recovery, the child has neurologic deficits including lower limb paraplegia with neurological bladder and bowel. This observation recalls the importance of the differential diagnosis between a coccygeal pit and a dermal sinus, the latter being associated with a dermoid cyst in 50% of cases. Serious neurologic consequences due to the possible infectious complications can occur when a dermal sinus is neglected. A preventive operative excision of both the dermal sinus and a possible cyst is a surgical emergency for spinal dysraphism.
Early identification of tethered cord syndrome: A clinical challenge
2014, Journal of Pediatric Health Care
Citation Excerpt :
Beyond 3 months of age, the conus medullaris ascends in the spinal column to the L1-L2 region and is no longer visible because of vertebral ossification (Bademci et al., 2006; Bui et al, 2007; Lew & Kothbauer, 2007; Miyasaka et al., 2009). If ultrasound findings are abnormal, an MRI should be performed (Ben-Sira, Pogner, Miller, Beni-Adani, and Constanti, 2009; Schenk et al, 2006). MRI is the gold standard imaging for the evaluation and diagnosis of intraspinal pathology in persons 3 months of age and older.
Tethered cord syndrome (TCS) is a progressive clinical condition that arises from excessive spinal cord tension. The clinical signs and symptoms of TCS may be cutaneous, neurologic, musculoskeletal, genitourinary, and/or gastrointestinal. Patients also may be asymptomatic, which does not exclude the diagnosis of TCS. Although the exact etiology is unknown, early identification and lifelong surveillance or surgical treatment is an essential component of patient management. In this article we review the pathophysiology, various etiologies, clinical presentation, and long-term sequelae of TCS. This information will help pediatric nurse practitioners identify TCS early and anticipate the patient's needs and management requirements.
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Les dysraphismes vertébro-médullaires représentent un ensemble hétérogène de malformations en rapport avec une anomalie du tube neural et/ou des autres structures de la ligne médiane durant l’embryogenèse. Ils constituent un domaine extrêmement vaste dont les modes de révélation peuvent aller d’un pied creux à une myéloméningocèle. Les sinus dermiques représentent une pathologie rare entrant dans le cadre du dysraphisme médullaire. Cette pathologie peu connue passe souvent inaperçue et est à l’origine d’une morbidité et d’une mortalité élevées. Nous rapportons deux cas de sinus dermiques passés inaperçus et compliqués.
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Coccygeal dermal sinus: Clinical relevance and management
2010, Anales de Pediatria
La presencia de un seno dérmico en la región dorsal de los niños constituye un motivo habitual de consulta en los servicios de neurocirugía pediátrica. Su frecuencia y posibles complicaciones hacen que su diagnóstico y tratamiento precoces sean importantes.
En este trabajo revisamos los criterios sobre el tratamiento de los senos sacrocoxígeos para sugerir un manejo racional de acuerdo con los datos publicados para evitar, en lo posible, derivaciones y exploraciones costosas e innecesarias.
Se revisaron las historias de niños diagnosticados de sinus dérmico sacrocoxígeo vistos en nuestro hospital durante el período 2005–2009. Asimismo se realizó una búsqueda bibliográfica de los artículos más relevantes sobre el tema.
Durante estos años se vieron 32 pacientes con fosita coxígea. La mayoría de niños fueron remitidos por cirujanos pediátricos, pediatras de zona o pediatras de los servicios de urgencia de los hospitales de nuestra región. Diecisiete niños fueron estudiados con pruebas de neuroimagen y 15 fueron evaluados exclusivamente mediante exploración física. En ninguno de los pacientes se apreció penetración intraraquídea.
De acuerdo a nuestra experiencia y a la bibliografía consultada pensamos que la exploración clínica es suficiente para un diagnóstico y manejo correcto de estos senos, siendo el dato más importante la situación de la fosita coxígea dentro de los límites del repliegue interglúteo. En casos dudosos de conexión del seno con la duramadre se deberá realizar una ecografía como prueba de primera línea y, si es necesario, una resonancia magnética y consulta con Neurocirugía.
The presence of a dermal sinus on a child's back is a common cause for paediatric neurosurgical consultation. The relative frequency of these lesions and fears on their possible clinical consequences enhances the importance of early diagnosis and treatment. With this work we aimed to search for the most relevant clinical features that might indicate an intradural penetration of the lesions and that may advise performing neuroimaging studies and a paediatric neurosurgical consultation.
The records pertaining to children diagnosed with sacro-coccygeal pits seen at our institution during the years 2005–2009 were reviewed. A Pub Med search of the most relevant articles on the subject was also performed.
Thirty-two children diagnosed with sacro-coccygeal pits were seen at our institution in the study period. Most cases had been sent for neurosurgical consultation by their paediatricians, paediatric surgeons or paediatricians of the emergency services in our region. Seventeen patients were submitted to some neuroimaging study and 15 were evaluated only by physical examination. In no patient was an intradural penetration of the lesion observed. The lack of reports on coccygeal sinuses probably reflects the unimportance given to these lesions in the absence of neurological involvement.
A detailed physical examination can reduce the number of neuroimaging studies, an intergluteal localization of the sinus being the most important diagnostic clue. Doubtful cases of an intradural penetration of the lesion can be further evaluated by ultrasound as a preliminary screening tool and by magnetic resonance and neurosurgical consultation if deemed necessary.

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Imaging of congenital anomalies and variations of the caudal spine and back in neonates and small infants

Abstract

Introduction

Section snippets

Skin anomalies

Spinal sonography

Spina bifida cystica

The coccygeal dimple

Conclusions

J Pediatrics

Pediatr Neurol

Pediatr Neurol

Lancet

Eur J Radiol

Cutaneous signs of spinal dysraphism: report of a patient with a tail-like lipoma and a review of 200 cases in the literature

Arch Dermatol

Lumbosacral skin lesions as markers of occult spinal dysraphism

JAMA

Occult spinal dysraphism: a series of 73 cases

Pediatrics

Diastematomyelia and scoliosis

J Bone Joint Surg Am

Mild forms of spinal dysraphism and associated conditions

Midline cutaneous and spinal defects midline cutaneous abnormalities associated with occult spinal disorders

Arch Dermatol

Lumbar cutaneous hemangiomas as indicators of tethered spinal cords

Pediatrics

High-resolution spinal sonography in infants

Am J Radiol

Sonography of the caudal spine and back: congenital anomalies in children

Am J Radiol

The tethered spinal cord: diagnosis by high-resolution real-time ultrasound

Radiology

Occult spinal dysraphism in infants: screening with high-resolution real-time ultrasound

Radiology

Utilization of ultrasound in the evaluation of spinal dysraphism in children

Radiology

Sonography for detection of spinal dermal sinus tracts

J Ultrasound Med