Lipomeningomyelocele

Last updated

A lipomyelomeningocele is a type of closed neural tube defect that affects around 3 to 6 babies out of 100,000 births. [1] [2] It is an example of a spinal lipoma , which is a collection of adipose tissue, or fat, that is located at or around the spinal cord. Essentially, it is a tumor of fat located on the spinal cord. A lipomyelomeningocele defect is present at birth and can present with physical defect of the spine and back, and it can also cause various neurological symptoms such as weakness and bladder and bowel incontinence. [3] The general treatment for this spinal defect is surgical detachment of the lipoma from the spine. [1] [3] [4]

Contents

Embryology

A lipomyelomeningocele develops during the early stages of central nervous system (CNS) development. [1] There are two main phases of CNS development, primary and secondary neurulation. [1] During primary neurulation, the very first aspects of the nervous system, known as the notochord and the neural plate, begin to fold over themselves to form what is known as the neural tube. [5] The neural tube is what will become the brain and the spinal cord, which comprise the CNS. Another layer of developing tissue, known as the ectoderm, will form the skin behind the developing spinal cord, while the mesoderm, yet another layer of tissue, will form the muscles and fat that will be around the cord. Ideally, the neural tube, i.e. the developing spinal cord, will close before the full development of the fat and muscle formed by the mesoderm. In lipomyelomeningocele and other spinal lipomas, however, the mesoderm forming the fat will migrate into the neural tube. The mesoderm and neural tube will continue to develop until a tumor of fat is formed. Later in development, membranes known as meninges will form around the neural tube, but in a lipomyelomeningocele, there is a disruption in their formation that will create a space for the meninges and the lipoma to spread towards the skin behind the spinal cord. [1]

In secondary neurulation, the mesoderm that will form the bones of the spine will fuse with the developing neural tube. It is possible that a lipomyelomeningocele can form during a disruption of this process, but this is not completely understood yet.

Lipomyelomeningoceles usually are formed during the early stages of pregnancy, usually weeks four to six. As opposed to other neural tube defects, there is no established role of folate deficiency in the development of this disorder. There is also no known genetic predisposition. [1] [4]

Classification

There are three major classification of spinal lipomas, which lipomyelomeningoceles fall into. [1] The majority of spinal lipomas occur in the lower back on the lumbar spine. The first is the dorsal type, which means that the disruption of the spinal cord occurs on the dorsal, i.e. towards the back, portion of the spinal cord. [1] There may be nerves affected, but these types of spinal lipomas generally do not extend into the conus medullaris, which is the ends of spinal cord nerves. Dorsal lipomas are typically caused by errors in primary neurulation.

In the caudal group of spinal lipomas, the place where the lipoma and spinal cord elements meet is located mainly inside of the spinal cord and affects the conus medullaris directly. Caudal spinal lipomas are caused by errors in secondary neurulation.

The transitional group is a combination of the dorsal and caudal types. An important characteristic of these is that there are elements of nerves that can be found within the lipoma itself. Transitional spinal lipomas are caused by errors in both primary and secondary neurulation. [1]

Presentation

Lipomyelomeningiomas typically present with skin and neurological abnormalities. [1] [6] Examples of skin manifestations are subcutaneous lipomas, capillary hemangiomas, complex dimples, and abnormal hair growth on the body, typically the lower back. Serious skin findings are more rare than these other more typical findings. There are also a number of musculoskeletal findings. They all result from the effects of the lipoma on the spine. Abnormal curvature of the spine, scoliosis, and deformities of the spine and legs distal to the lipoma are common. Due to the proximity of the lipomas to the nerves regulating continence, both stool and urinary incontinence are common. [1] [7] Neurological symptoms such as weakness, abnormalities of sensation, and pain can be common but may manifest later on in an individual's life. [7]

Commonly, individuals who are not diagnosed with lipomyelomeningioma can be asymptomatic. When the person grows, there is added stress on the spine, especially If there is a rotational aspect to the lipoma, causing the person to begin having symptoms later on. [1] [8]

Lipomyelomeningiomas are associated with a number of other disorders [1]

Diagnosis

The most common way to diagnose a lipomyelomeningioma is through ultrasound. [1] [9] It is possible to be able to see a neural tube defect as early as 18 to 20 weeks into pregnancy. If this is not found during pregnancy, the definitive way to diagnose a lipomyelomeningioma or any other spinal lipoma is through magnetic resonance imaging (MRI). Adjunct imaging such as plain radiographs (X-ray) or computed tomography (CT) can help assess for any defects in bone structure. [1]

Management

Management for lipomyelomeningioma can either be conservative or surgical. [1] [3] [4] [10] Conservative management is mainly supportive, with periodic checks to assess for progression or development of symptoms. It has been suggested that individuals who are asymptomatic should not receive surgical interventions due to risk of worsening of clinical condition.

For individuals who are asymptomatic, it is possible to receive surgical intervention. There are two main surgical approaches. [1] The first and more traditional is to partially remove the lipoma, carefully remove interfering tissue surrounding the spinal cord, then repairing the area by duraplasty. [3] [7] A second method that is less common and newer is to remove vertebral bones in an osteotomy in the attempt to reduce tension on the spinal cord. Surgical management and the preferred procedures vary by institution. In general, the more tension and rotation there is of the spine, the more likely it is for the individual to be symptomatic and require surgery. [1] However, as the severity of the lipoma increases, so too does the risk for adverse events from the surgery or for the procedure to not relieve symptoms.

Even with surgical treatment of lipomyelomenigngioma, it is possible that there will be no clear improvement in the individuals' condition. It has been shown that there is improvement only around ten percent of the time, while there majority of the time there is no change. [1] [3]

See also

Related Research Articles

<span class="mw-page-title-main">Syringomyelia</span> Disorder in which a cyst forms in the spinal cord

Syringomyelia is a generic term referring to a disorder in which a cyst or cavity forms within the spinal cord. Often, syringomyelia is used as a generic term before an etiology is determined. This cyst, called a syrinx, can expand and elongate over time, destroying the spinal cord. The damage may result in loss of feeling, paralysis, weakness, and stiffness in the back, shoulders, and extremities. Syringomyelia may also cause a loss of the ability to feel extremes of hot or cold, especially in the hands. It may also lead to a cape-like bilateral loss of pain and temperature sensation along the upper chest and arms. The combination of symptoms varies from one patient to another depending on the location of the syrinx within the spinal cord, as well as its extent.

<span class="mw-page-title-main">Body cavity</span> Internal space within a multicellular organism

A body cavity is any space or compartment, or potential space, in an animal body. Cavities accommodate organs and other structures; cavities as potential spaces contain fluid.

<span class="mw-page-title-main">Spina bifida</span> Birth defect of the spinal cord

Spina bifida /ˌspaɪnə ˈbɪfɪdə/ is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. There are three main types: spina bifida occulta, meningocele and myelomeningocele. Meningocele and myelomeningocele may be grouped as spina bifida cystica. The most common location is the lower back, but in rare cases it may be in the middle back or neck.

<span class="mw-page-title-main">Neural tube</span> Developmental precursor to the central nervous system

In the developing chordate, the neural tube is the embryonic precursor to the central nervous system, which is made up of the brain and spinal cord. The neural groove gradually deepens as the neural fold become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into the closed neural tube. In humans, neural tube closure usually occurs by the fourth week of pregnancy.

<span class="mw-page-title-main">Iniencephaly</span> Rare neural tube defect characterised by fusion of the occiput with the spine

Iniencephaly is a rare type of cephalic disorder characterised by three common characteristics: a defect to the occipital bone, spina bifida of the cervical vertebrae and retroflexion of the head on the cervical spine. Stillbirth is the most common outcome, with a few rare examples of live birth, after which death invariably occurs within a short time.

<span class="mw-page-title-main">Cauda equina</span> Anatomical structure

The cauda equina is a bundle of spinal nerves and spinal nerve rootlets, consisting of the second through fifth lumbar nerve pairs, the first through fifth sacral nerve pairs, and the coccygeal nerve, all of which arise from the lumbar enlargement and the conus medullaris of the spinal cord. The cauda equina occupies the lumbar cistern, a subarachnoid space inferior to the conus medullaris. The nerves that compose the cauda equina innervate the pelvic organs and lower limbs to include motor innervation of the hips, knees, ankles, feet, internal anal sphincter and external anal sphincter. In addition, the cauda equina extends to sensory innervation of the perineum and, partially, parasympathetic innervation of the bladder.

<span class="mw-page-title-main">Ectoderm</span> Outer germ layer of embryonic development

The ectoderm is one of the three primary germ layers formed in early embryonic development. It is the outermost layer, and is superficial to the mesoderm and endoderm. It emerges and originates from the outer layer of germ cells. The word ectoderm comes from the Greek ektos meaning "outside", and derma meaning "skin".

In humans and other mammals, the caudal cell mass is the aggregate of undifferentiated cells at the caudal end on the spine. The caudal end of the spinal cord first begins to form after primary neurulation has taken place, indicating that it develops after the cranial portion of the spinal cord has developed. Following neurulation, the caudal tail begins to form a neurocele as it develops a hollow core. After this, secondary neurulation occurs in which the medullary cord begins to form and is filled with many cavities that ultimately form the lumen. The cavities formed from the initial and secondary neurulation combine to form one uninterrupted cavity. There is still speculation on the formation of the caudal cell mass in humans with arguments being made for it arising from many cavities or the continuing growth of the neurocele from the initial neurulation. The caudal cell mass will ultimately differentiate and form into many sacral structures such various nerve endings and the conus medullaris.

<span class="mw-page-title-main">Neurulation</span> Embryological process forming the neural tube

Neurulation refers to the folding process in vertebrate embryos, which includes the transformation of the neural plate into the neural tube. The embryo at this stage is termed the neurula.

<span class="mw-page-title-main">Neuromere</span>

Neuromeres are distinct groups of neural crest cells, forming segments in the neural tube of the early embryonic development of the brain. There are three classes of neuromeres in the central nervous system – prosomeres, mesomeres and rhombomeres that will develop the forebrain, midbrain, and hindbrain respectively.

<span class="mw-page-title-main">Neurula</span> Embryo at the early stage of development in which neurulation occurs

A neurula is a vertebrate embryo at the early stage of development in which neurulation occurs. The neurula stage is preceded by the gastrula stage; consequentially, neurulation is preceded by gastrulation. Neurulation marks the beginning of the process of organogenesis.

A syrinx is a rare, fluid-filled neuroglial cavity within the spinal cord (syringomyelia), in the brain stem (syringobulbia), or in the nerves of the elbow, usually in a young age.

Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord. Various forms include tight filum terminale, lipomeningomyelocele, split cord malformations (diastematomyelia), occult, dermal sinus tracts, and dermoids. All forms involve the pulling of the spinal cord at the base of the spinal canal, literally a tethered cord. The spinal cord normally hangs loose in the canal, free to move up and down with growth, and with bending and stretching. A tethered cord, however, is held taut at the end or at some point in the spinal canal. In children, a tethered cord can force the spinal cord to stretch as they grow. In adults the spinal cord stretches in the course of normal activity, usually leading to progressive spinal cord damage if untreated. TCS is often associated with the closure of a spina bifida. It can be congenital, such as in tight filum terminale, or the result of injury later in life.

<span class="mw-page-title-main">Diastematomyelia</span> Medical condition

Diastematomyelia is a congenital disorder in which a part of the spinal cord is split, usually at the level of the upper lumbar vertebra in the longitudinal (sagittal) direction. Females are affected much more commonly than males. This condition occurs in the presence of an osseous, cartilaginous or fibrous septum in the central portion of the spinal canal which then produces a complete or incomplete sagittal division of the spinal cord into two hemicords. When the split does not reunite distally to the spur, the condition is referred to as diplomyelia, which is true duplication of the spinal cord.

<span class="mw-page-title-main">Rachischisis</span> Neural tube defect in which the spinal cord is exposed

Rachischisis is a developmental birth defect involving the neural tube. This anomaly occurs in utero, when the posterior neuropore of the neural tube fails to close by the 27th intrauterine day. As a consequence the vertebrae overlying the open portion of the spinal cord do not fully form and remain unfused and open, leaving the spinal cord exposed. Patients with rachischisis have motor and sensory deficits, chronic infections, and disturbances in bladder function. This defect often occurs with anencephaly.

<span class="mw-page-title-main">Spinal cord</span> Long, tubular central nervous system structure in the vertebral column

The spinal cord is a long, thin, tubular structure made up of nervous tissue that extends from the medulla oblongata in the brainstem to the lumbar region of the vertebral column (backbone) of vertebrate animals. The center of the spinal cord is hollow and contains a structure called central canal, which contains cerebrospinal fluid. The spinal cord is also covered by meninges and enclosed by the neural arches. Together, the brain and spinal cord make up the central nervous system (CNS).

<span class="mw-page-title-main">Spinal stenosis</span> Disease of the bony spine that results in narrowing of the spinal canal

Spinal stenosis is an abnormal narrowing of the spinal canal or neural foramen that results in pressure on the spinal cord or nerve roots. Symptoms may include pain, numbness, or weakness in the arms or legs. Symptoms are typically gradual in onset and improve with leaning forward. Severe symptoms may include loss of bladder control, loss of bowel control, or sexual dysfunction.

<span class="mw-page-title-main">Vertebral column</span> Bony structure found in vertebrates

The vertebral column, also known as the backbone or spine, is the core part of the axial skeleton in vertebrate animals. The vertebral column is the defining characteristic of vertebrate endoskeleton in which the notochord found in all chordates has been replaced by a segmented series of mineralized irregular bones called vertebrae, separated by fibrocartilaginous intervertebral discs. The dorsal portion of the vertebral column houses the spinal canal, a cavity formed by alignment of the neural arches that encloses and protects the spinal cord.

<span class="mw-page-title-main">Congenital dermal sinus</span> Medical condition

Congenital dermal sinus is an uncommon form of cranial or spinal dysraphism. It occurs in 1 in 2500 live births. It occurs as a dermal indentation, found along the midline of the neuraxis and often presents alongside infection and neurological deficit. Congenital dermal sinus form due to a focal failure of dysjunction between the cutaneous ectoderm and neuroectoderm during the third to eight week of gestation. Typically observed in the lumbar and lumbosacral region, congenital dermal sinus can occur from the nasion and occiput region down.

Caudal duplication, is a rare congenital disorder in which various structures of the caudal region, embryonic cloaca, and neural tube exhibit a spectrum of abnormalities such as duplication and malformations. The exact causes of the condition is unknown, though there are several theories implicating abnormal embryological development as a cause for the condition. Diagnosis is often made during prenatal development of the second trimester through anomaly scans or immediately after birth. However, rare cases of adulthood diagnosis has also been observed. Treatment is often required to correct such abnormalities according to the range of symptoms present, whilst treatment options vary from conservative expectant management to resection of caudal tissue to restore normal function or appearance. As a rare congenital disorder, the prevalence at birth is less than 1 per 100,000 with less than 100 cases reported worldwide.

References

  1. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 Wagner KM, Raskin JS, Hansen D, Reddy GD, Jea A, Lam S (2017). "Surgical management of lipomyelomeningocele in children: Challenges and considerations". Surgical Neurology International. 8 (1): 63. doi: 10.4103/2152-7806.205268 . PMC   5421405 . PMID   28540129.
  2. ↑ Heidari SV, Mollahoseini R, Ghandehari H, Farhadi E, Abbasi F, Asaadi S, et al. (September 2020). "Cervical Lipomyelomeningocele Presenting with Progressive Motor Deficit: A Case Report and Review of the Literature". Pediatric Neurosurgery. 55 (1): 58–61. doi:10.1159/000504059. PMID   31747658. S2CID   208214089.
  3. 1 2 3 4 5 "Lipomyelomeningocele". Columbia Neurosurgery. New York City. 8 April 2021. Retrieved 18 April 2022.
  4. 1 2 3 "Lipomyelomeningocele". Seattle Children’s Hospital. Retrieved 18 April 2022.
  5. ↑ Finn MA, Walker ML (August 2007). "Spinal lipomas: clinical spectrum, embryology, and treatment". Neurosurgical Focus. 23 (2): E10. doi: 10.3171/FOC-07/08/E10 . PMID   17961016. S2CID   32906861.
  6. ↑ Muthukumar N (March 2009). "Congenital spinal lipomatous malformations: part I--Classification". Acta Neurochirurgica. 151 (3): 179–88, discussion 197. doi:10.1007/s00701-009-0208-6. PMID   19240974. S2CID   35724083.
  7. 1 2 3 Housley SB, Patel D, Nyabuto E, Reynolds RM (14 December 2021). "Spinal cord detethering without laminectomy or laminotomy". Surgical Neurology International. 12: 610. doi:10.25259/SNI_942_2021. PMC   8720436 . PMID   34992926.
  8. ↑ Ferreira Furtado LM, Da Costa Val Filho JA, Dantas F, Moura de Sousa C (October 2020). "Tethered Cord Syndrome After Myelomeningocele Repair: A Literature Update". Cureus. 12 (10): e10949. doi: 10.7759/cureus.10949 . PMC   7560491 . PMID   33072445.
  9. ↑ International Society of Ultrasound in Obstetrics & Gynecology Education Committee (January 2007). "Sonographic examination of the fetal central nervous system: guidelines for performing the 'basic examination' and the 'fetal neurosonogram'". Ultrasound in Obstetrics & Gynecology. 29 (1): 109–116. doi: 10.1002/uog.3909 . PMID   17200992. S2CID   686912.
  10. ↑ "What Is Lipomyelomeningocele?". Gillette Children's. Retrieved 18 April 2022.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.