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Congenital Malformation of the Spine

Anomalies of the Spine 


Presentation

  • Any spinal congenital anomaly may present in adulthood as a consequence of spinal cord tethering and/or development of syringomyelia.[uncch.pure.elsevier.com]
  • Here, the authors present an unusual oblique axis fracture occurring in conjunction with several malformations of the upper cervical spine.[surgicalneurologyint.com]
  • Congenital Brain and Spine Malformations: What You Need to Know Congenital means present at birth. These conditions may be mild and without symptoms or serious, requiring treatment. Surgery may be recommended to: Address your child’s symptoms.[hopkinsmedicine.org]
  • Parmar and Ibrahim, have contributions from 28 other authors, and all authors have nicely taken the reader from the embryology of the area being discussed through developmental steps, and finally to the clinical and imaging presentations of each anomaly[ajnrblog.org]
  • Usually, if symptoms are present, instability of greater than 7 to 10 mm is found.[clinicalgate.com]
Cervical Osteoarthritis
  • osteoarthritis, as found in the family studies of Gunderson and colleagues. 21 Chamberlain 1 and others theorized that the young developing brain may be more tolerant of compressive effects, which later prove deleterious to older tissues.[clinicalgate.com]
Ulcer
  • Skin ulcerations on the feet are common. Unilateral calf atrophy or club foot should be a strong indicator. Symptom onset may rarely be delayed until late in adult life. A fusiform widening of th spinal canal is seen roentgenographically.[quizlet.com]
  • […] are segmental, are large, and may have a reticular pattern are associated with spinal and genital urinary malformations in up to 55% of cases as part of the LUMBAR syndrome (lower body hemangioma and other cutaneous defects, urogenital abnormalities, ulcerations[pediatrics.aappublications.org]
Skin Ulcer
  • Skin ulcerations on the feet are common. Unilateral calf atrophy or club foot should be a strong indicator. Symptom onset may rarely be delayed until late in adult life. A fusiform widening of th spinal canal is seen roentgenographically.[quizlet.com]
Paresthesia
  • Patients who were symptomatic with pure basilar impression had the dominant complaints of motor and sensory disturbances, and 85% had weakness and paresthesia of the limbs.[clinicalgate.com]
  • Since most patients are asymptomatic for many years, the majority of them remain undiagnosed until neck injury, pain or paresthesias in the neck or arm warrant an imaging evaluation.[bmcmedimaging.biomedcentral.com]
  • Patients with congenital spondylolisthesis show deficits in their neurological examinations. [5] A neurological evaluation includes an evaluation of pain, numbness, paresthesia, tingling, extremity sensation and motor function, muscle spasm, weakness[physio-pedia.com]
Mental Deterioration
  • Symptoms referable to vertebral artery compression—dizziness, seizures, mental deterioration, and syncope—may occur alone or in combination with symptoms of spinal cord compression. 34 In children, the presenting symptoms may be quite subtle and nonspecific[clinicalgate.com]
Dysphasia
  • […] ataxia, spasticity, hyperreflexia, and pathologic reflexes are commonly found. 33, 37 Autopsy findings consistently show that the brainstem is indented by the abnormal odontoid. 37, 38 Other, less common complaints include diplegia, tinnitus, earaches, dysphasia[clinicalgate.com]

Workup

  • Isolated coccygeal dimples do not require further workup or treatment. FIGURE 9 Benign coccygeal dimple within the gluteal cleft and overlying the tip of the coccyx.[pediatrics.aappublications.org]
  • Workup consists of MRI of the brain and complete spine, including sagittal and axial views.[musculoskeletalkey.com]
  • Workup An accurate radiologic evaluation is essential. Standard posteroanterior (PA) and lateral views of the entire spine are used for the initial evaluation.[emedicine.medscape.com]
  • ., levoscoliosis, young age, or male gender), and the diagnosis is made by MRI as part of the scoliosis workup. Chiari decompression (suboccipital craniectomy, C1 laminectomy, and duraplasty) results in resolution of the hydromyelia in most cases.[wjgnet.com]
Mediastinal Mass
  • The sine qua non for a neurenteric cyst is a wide anterior spina bifida through which there is a direct communication between a cystic posterior mediastinal mass and the subarachnoid space.[radiologykey.com]
Posterior Mediastinal Mass
  • The sine qua non for a neurenteric cyst is a wide anterior spina bifida through which there is a direct communication between a cystic posterior mediastinal mass and the subarachnoid space.[radiologykey.com]

Treatment

  • If the MRI scan shows any evidence of these malformations, a neurosurgical consultation is recommended to develop the best treatment plan.[hopkinsmedicine.org]
  • […] range of motion may be limited, no treatment is indicated.[quizlet.com]
  • Conservative treatment is usually ineffective. The indication for operative treatment should be made before the deformity becomes unacceptable, as a correction is difficult and dangerous.[ncbi.nlm.nih.gov]
  • The most commonly found spinal congenital anomalies include the filum terminale lipoma which is generally asymptomatic and incidental and the caudal regression syndrome for which no primary treatment exists.[uncch.pure.elsevier.com]
  • (e) Lateral radiograph showing adequate alignment after treatment with halo-vest.[surgicalneurologyint.com]

Prognosis

  • The type of malformation determines the prognosis.[ncbi.nlm.nih.gov]
  • In addition, in cases where the natural history indicates a poor prognosis, orthotic treatment is contraindicated.[emedicine.medscape.com]
  • The prognosis of os odontoideum depends on the clinical presentation. The prognosis is good if only mechanical symptoms ( torticollis or neck pain) or transient neurological symptoms exist. It is poor if neurological deficits slowly progress.[boneandspine.com]
  • Which pattern has the worst prognosis and is an indication for surgery. Review Topic QID: 881 ML 1 Select Answer to see Preferred Response PREFERRED RESPONSE 5 (OBQ05.116) A 2-year-old girl presents to the office for evaluation of spinal deformity.[orthobullets.com]

Etiology

  • Klippel-Feil Syndrome: Clinical Features and Current Understanding of Etiology. Original Text by Clifford R. Wheeless, III, MD.[wheelessonline.com]
  • Their etiology is not known, but it has been postulated that it may be similar to intraspinal lipomas, where dorsal mesenchyme is able to enter the neural tube secondary to premature disjunction and is subsequently induced to form these hamartomatous[radiologykey.com]
  • Large deformities can result due to the number of years of growth remaining. [16] Epidemiology /Etiology The etiology of congenital spine deformities varies greatly because there are many different types.[physio-pedia.com]
  • Although the exact etiology for this phenomenon is unknown, some attribute vertebral formation or segmentation anomalies to disruption of the vascular supply to that portion of the vertebral column[ 47 ].[wjgnet.com]
  • Retethering can occur, and if new symptoms suggest this as an etiology, reoperation is indicated.[musculoskeletalkey.com]

Epidemiology

  • Introduction Congenital scoliosis is the failure of normal vertebral development during 4th to 6th week of gestation caused by developmental defect in the formation of the mesenchymal anlage Epidemiology incidence prevalence in general population estimated[orthobullets.com]
  • Large deformities can result due to the number of years of growth remaining. [16] Epidemiology /Etiology The etiology of congenital spine deformities varies greatly because there are many different types.[physio-pedia.com]
  • Epidemiology Neural tube defects (NTDs) are among the most common congenital abnormalities but prevalence varies between countries and races.[jnnp.bmj.com]
Sex distribution
Age distribution

Pathophysiology

  • Normal Embryology and the Pathophysiology of Spinal Cord Tethering Dysraphic CNS malformations arise during the second, third, and fourth weeks of human embryogenesis, generally referred to as the period of neurulation.[pediatrics.aappublications.org]

Prevention

  • Prevent development of neurological deficits. What are congenital brain and spine malformations? Congenital abnormalities, called malformations, are conditions affecting the form and function of the nervous system.[hopkinsmedicine.org]
  • This is the first documented research study that supports the TCM theory that "the Kidney governs the bones, and healthy bones give the body stabilization and prevent fracture."[ncbi.nlm.nih.gov]
  • The goal in these patients is to reestablish spinal balance and alignment and to prevent back pain, neurological deficits, as well as pulmonary lung dysfunction.[scoliosisassociates.com]
  • Depending on the type and severity of your child’s condition, the pediatrician may recommend one or more of the following treatment options: Back braces or casts in mild cases of scoliosis to prevent spine curvatures from worsening Surgery for kyphosis[childrensnational.org]
  • Operative stabilization of a patient with chronic atlantoaxial instability may prevent a neurologic disaster. Physicians who treat these children must be concerned with their total care.[clinicalgate.com]

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