Congenital Spine Deformities: Difference between revisions
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== Clinically Relevant Anatomy == | == Clinically Relevant Anatomy == | ||
Neural tube deformities<br>Neural tube deformity is a term for congenital anomalies because of incomplete closure of the neural tube in the utero. [5[LOE:2C]] [59 [LOE:2A]] This causes impaired formation of structures along the craniospinal axis. [55 [LOE:2C]] Spinal neural tube defects can be subdivided into those that are open versus those that are closed:<br>● Open: the failure is primary neuralation. [4 [LOE:2A]] [44 [LOE:5]]<br>● Closed: the structural deformities are mostly limited to the spinal cord. [44 [LOE:5]]<br> | |||
However, it is not only the elements of the spine that can be affected. Other body organs that formed during the same embryonic stage can be affected as well. This is because [31 [LOE:1A]] the paraxial mesoderm is responsible for the formation of the vertebrae, whereas the other two areas of mesoderm (intermediate and lateral) are involved in the development of the urogenital, pulmonary and cardiac systems. [4 [LOE:2A]] Several studies referred to in a 2005 review [31 [LOE:1A]]have indicated a higher incidence of congenital heart defects, and many patients may have difficulty with respiration because of abnormal curvatures of the spine.<br>Another 2009 review [42 [LOE:2A]] noted that several authors observed that these associated anomalies have an influence on the progression of untreated congenital [[Scoliosis|Scoliosis]].<br><br> | |||
Failure of segmentation/ formation<br>The bony structure of the spine is determined in the first 6 weeks of intrauterine life, at the mesenchymal stage of embryonic development. Somites form and undergo a process of segmentation and recombination. This is necessary to give rise to the cartilaginous mould that afterwards will ossify to form the bony spine. Errors during this process can lead to either failure of formation, failure of segmentation or a combination of both. [22 [LOE:3A]]<br>Examples of failure of segmentation are:<br>● Congenital kyphosis<br>● Congenital [[Scoliosis|Scoliosis]]<br>Examples of failure of formation are:<br>● [[Klippel-Feil_syndrome|Klippel-Feil syndrome]] [36 [LOE: 2A]]<br>● Congenital kyphosis<br>● Congenital [[Scoliosis|Scoliosis]]<br>The anomaly is present at birth, so a curvature is noted much earlier than patients with idiopathic scoliosis. In addition, because of all the years of growth remaining, large deformities can result. [38 [LOE:2C]]<br><br> | |||
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== Epidemiology /Etiology == | == Epidemiology /Etiology == | ||
Revision as of 16:05, 15 January 2016
Original Editors - Gertjan Peeters
Top Contributors - Ine Van de Weghe, Gertjan Peeters, Lucinda hampton, Scott Cornish, Kim Jackson, Admin, WikiSysop, Mande Jooste, Chelsea Mclene, De Maeght Kim and Mila Andreew
Search Strategy[edit | edit source]
Databases: Pubmed, Pedro, WebOfScience, emedicine , VUBmedical library, ScienceDirect, Google scholar
Keywords: Congenital spine deformities, spinal anatomy, congenital abnormalities of the spine, scoliosis, spina bifida, spinal dysraphims, imaging of the spine, milwaukee brace, neural tube defect, physical examination spine, detection spine deformities
Definition/DescriptionCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title[edit | edit source]
Congenital deformities of the spine are spinal deformities identified at birth that are the result of anomalous vertebral development in the embryo. Minor bony malformations of all types occur in up to 12% of the general population and are usually not apparent. [1 [LOE:2C]] The spine is a complex and vital structure. Anatomically, a variety of tissue types are represented in the spine, including musculoskeletal and neural elements. Several embryologic steps must occur to result in the proper formation of both the musculoskeletal and neural elements of the spine. Alterations in these embryologic steps can result in congenital abnormalities of the spine. [31 [LOE:1A]] Based on the type of malformation, the resulting deformity and the specific region of the spine where the malformation occurs, these congenital malformations of the spine can be classified into three main groups [31 [LOE:1A]]:
1) When the neural tube fails to completely close during the embryonic development, we speak about a neural tube defect/deformities. [31 [LOE:1A]] The most common example is spina bifida. The term “spina bifida” merely refers to a defective fusion of posterior spinal bony elements, but is still incorrectly used to refer to spinal dysraphism in general, quoted in the book of BOOS N. and AEBI M. [7 [GOR: B + C]] So we can conclude that spina bifida aperta is certainly an open spinal dysraphism. This type of spina bifida is associated with meningocele or meningomyelocele [31[LOE:1A]] , but there are also other kinds of spinal dysraphisms, like the closed spinal dysraphisms for example Spina Bifida Occulta. [54 [LOE: 4]]
2) When two or more vertebrae fail to fully separate and divide with concomitant partial or complete loss of a growth plate, we speak about a failure of segmentation. Examples of this type of congenital spine deformity are congenital scoliosis, congenital kyphosis, congenital lordosis and Klippel-Feil syndrome. [31[LOE:1A]]
3) However, congenital scoliosis and congenital kyphosis, and congenital lordosis can also be examples of a failure of formation. This type of congenital spine deformity occurs as a result of an absence of a structural element of a vertebra. Typical observable defects are hemivertebrae or wedge vertebrae. [31[LOE:1A]] [24 [LOE:3B]]
Congenital abnormalities of the spine have a range of clinical presentations. Some congenital abnormalities may be benign, causing no spinal deformity and may remain undetected throughout a lifetime. Others may be associated with severe, progressive spinal deformity leading to cor pulmonale or even paraplegia. Some deformities will result in sagittal plane abnormalities, for example kyphosis or lordosis, whereas others will primarily affect the coronal plane, like Scoliosis. The resultant spinal deformity is often a complex, three-dimensional structure with differences in both the coronal and sagittal plane, along with a rotational component along the axis of the spine.[34 [LOE:3A]]
Clinically Relevant Anatomy[edit | edit source]
Neural tube deformities
Neural tube deformity is a term for congenital anomalies because of incomplete closure of the neural tube in the utero. [5[LOE:2C]] [59 [LOE:2A]] This causes impaired formation of structures along the craniospinal axis. [55 [LOE:2C]] Spinal neural tube defects can be subdivided into those that are open versus those that are closed:
● Open: the failure is primary neuralation. [4 [LOE:2A]] [44 [LOE:5]]
● Closed: the structural deformities are mostly limited to the spinal cord. [44 [LOE:5]]
However, it is not only the elements of the spine that can be affected. Other body organs that formed during the same embryonic stage can be affected as well. This is because [31 [LOE:1A]] the paraxial mesoderm is responsible for the formation of the vertebrae, whereas the other two areas of mesoderm (intermediate and lateral) are involved in the development of the urogenital, pulmonary and cardiac systems. [4 [LOE:2A]] Several studies referred to in a 2005 review [31 [LOE:1A]]have indicated a higher incidence of congenital heart defects, and many patients may have difficulty with respiration because of abnormal curvatures of the spine.
Another 2009 review [42 [LOE:2A]] noted that several authors observed that these associated anomalies have an influence on the progression of untreated congenital Scoliosis.
Failure of segmentation/ formation
The bony structure of the spine is determined in the first 6 weeks of intrauterine life, at the mesenchymal stage of embryonic development. Somites form and undergo a process of segmentation and recombination. This is necessary to give rise to the cartilaginous mould that afterwards will ossify to form the bony spine. Errors during this process can lead to either failure of formation, failure of segmentation or a combination of both. [22 [LOE:3A]]
Examples of failure of segmentation are:
● Congenital kyphosis
● Congenital Scoliosis
Examples of failure of formation are:
● Klippel-Feil syndrome [36 [LOE: 2A]]
● Congenital kyphosis
● Congenital Scoliosis
The anomaly is present at birth, so a curvature is noted much earlier than patients with idiopathic scoliosis. In addition, because of all the years of growth remaining, large deformities can result. [38 [LOE:2C]]
Epidemiology /Etiology[edit | edit source]
A 2009 reviewCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title concludes that environmental factors, genetic factors, vitamin deficiency, chemicals, and drugs, singly or in combination, have all been implicated in the development of vertebral abnormalities during the embryologic period.
Characteristics/Clinical Presentation[edit | edit source]
The 2005 reviewCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title concludes that a defect early in fetal life may have a variety of clinical presentations. This is because of the fact that several systems develop from a common precursor. Examples of these clinical presentations are scoliosis, hyperlordosis and/or hyperkyphosis. Furthermore, this review also indicates that congenital abnormalities of the spine have the potential to affect the spinal cord and associated nerve roots. The neurological symptoms can vary from minor motor or sensory signs to paraplegia, depending on the type and severity of the congenital spine deformity. A 2007 reviewCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title indicates that congenital spine deformities are not always immediately obvious at birth. They can present as a deformity with growth or with clinical signs of neurologic dysfunction during adolescence or adulthood.
Differential Diagnosis[edit | edit source]
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Diagnostic Procedures[edit | edit source]
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Outcome Measures[edit | edit source]
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Examination[edit | edit source]
An inspection and a physical examination are necessary as alwaysCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title, but a 2009 reviewCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title indicates that also a complete neurologic evaluation is necessary to rule out the presence of intraspinal anomalies. And several studiesCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title show that congenital spine deformities benefit from MRI. But also a CT scan is a good choice in evaluating congenital spinal deformitiesCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Medical Management
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A 2009 reviewCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title indicates that the natural history, the character and location of the deformity ultimately influence the necessity for treatment. Another 2009 reviewCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title concludes that spinal instrumentation for congenital spine deformity cases is safe and efficacious. The size and weight of the patient determine the size of spinal implants and the surgical fixation anchors will be determined by the anatomy of the patient and the anomalies present.
Also a 2004 reviewCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title concludes that the use of spinal instrumentation in young patients is safe and efficacious. The complications associated with the use of this spinal instrumentation are infrequent and the curve correction, length of immobilization and fusion rate is improved.
Physical Therapy Management
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Key Research[edit | edit source]
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Resources
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Clinical Bottom Line[edit | edit source]
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Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
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