Diastematomyelia (occasionally diastomyelia) is a

congenital disorder A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities ca ...

in which a part of the

spinal cord The spinal cord is a long, thin, tubular structure made up of nervous tissue, which extends from the medulla oblongata in the brainstem to the lumbar region of the vertebral column (backbone). The backbone encloses the central canal of the sp ...

is split, usually at the level of the upper lumbar

vertebra The spinal column, a defining synapomorphy shared by nearly all vertebrates, Hagfish are believed to have secondarily lost their spinal column is a moderately flexible series of vertebrae (singular vertebra), each constituting a characteristi ...

in the

longitudinal Longitudinal is a geometric term of location which may refer to: * Longitude ** Line of longitude, also called a meridian * Longitudinal engine, an internal combustion engine in which the crankshaft is oriented along the long axis of the vehicl ...

(

sagittal The sagittal plane (; also known as the longitudinal plane) is an anatomical plane that divides the body into right and left sections. It is perpendicular to the transverse and coronal planes. The plane may be in the center of the body and divi ...

) direction. Females are affected much more commonly than males. This condition occurs in the presence of an osseous,

cartilaginous Cartilage is a resilient and smooth type of connective tissue. In tetrapods, it covers and protects the ends of long bones at the joints as articular cartilage, and is a structural component of many body parts including the rib cage, the neck a ...

fibrous Fiber or fibre (from la, fibra, links=no) is a #Natural fibers, natural or Fiber#Artificial fibers, artificial substance that is significantly longer than it is wide. Fibers are often used in the manufacture of other materials. The stronge ...

septum in the central portion of the

spinal canal The spinal canal (or vertebral canal or spinal cavity) is the canal that contains the spinal cord within the vertebral column. The spinal canal is formed by the vertebrae through which the spinal cord passes. It is a process of the dorsal body ca ...

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.

Signs and symptoms

The signs and symptoms of diastematomyelia may appear at any time of life, although the

diagnosis Diagnosis is the identification of the nature and cause of a certain phenomenon. Diagnosis is used in many different disciplines, with variations in the use of logic, analytics, and experience, to determine " cause and effect". In systems engin ...

is usually made in childhood.

Cutaneous Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation. Other animal coverings, such as the arthropod exoskeleton, have different d ...

lesions (or stigmata), such as a hairy patch, dimple,

Hemangioma A hemangioma or haemangioma is a usually benign vascular tumor derived from blood vessel cell types. The most common form, seen in infants, is an infantile hemangioma, known colloquially as a "strawberry mark", most commonly presenting on the ski ...

, subcutaneous mass,

Lipoma A lipoma is a benign tumor made of fat tissue. They are generally soft to the touch, movable, and painless. They usually occur just under the skin, but occasionally may be deeper. Most are less than in size. Common locations include upper back, ...

Teratoma A teratoma is a tumor made up of several different types of tissue, such as hair, muscle, teeth, or bone. Teratomata typically form in the ovary, testicle, or coccyx. Symptoms Symptoms may be minimal if the tumor is small. A testicular ter ...

over the affected area of the spine is found in more than half of cases. Neurological symptoms are nonspecific, indistinguishable from other causes of cord tethering. The symptoms are caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord. The course of the disorder is progressive. In children, symptoms may include the "

stigmata Stigmata ( grc, στίγματα, plural of , 'mark, spot, brand'), in Roman Catholicism, are bodily wounds, scars and pain which appear in locations corresponding to the crucifixion wounds of Jesus Christ: the hands, wrists, and feet. Sti ...

" mentioned above and/or foot and spinal

deformities A deformity, dysmorphism, or dysmorphic feature is a major abnormality of an organism that makes a part of the body appear or function differently than how it is supposed to. Causes Deformity can be caused by a variety of factors: *Arthritis an ...

; weakness in the legs;

low back pain Low back pain (LBP) or lumbago is a common disorder involving the muscles, nerves, and bones of the back, in between the lower edge of the ribs and the lower fold of the buttocks. Pain can vary from a dull constant ache to a sudden sharp feel ...

; scoliosis; and incontinence. In adulthood, the signs and symptoms often include progressive sensory and motor problems and loss of bowel and bladder control. This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time.

Tethered spinal cord syndrome Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord.spina bifida Spina bifida (Latin for 'split spine'; SB) 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, men ...

. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause

cysts A cyst is a closed sac, having a distinct envelope and division compared with the nearby tissue. Hence, it is a cluster of cells that have grouped together to form a sac (like the manner in which water molecules group together to form a bubble) ...

to form in the spinal cord, a condition called

syringomyelia 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 o ...

. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms. Cervical diastematomyelia can become symptomatic as a result of acute trauma, and can cause major neurological deficits, like hemiparesis, to result from otherwise mild trauma.Kuchner, E.F., Anand, A.K. & Kaufman, B.M., "Cervical Diastematomyelia" Neurosurgery, 16(4): 538-542, 1985 The following definitions may help to understand some of the related entities: * Diastematomyelia (di·a·stem·a·to·my·elia) is a congenital anomaly, often associated with spina bifida, in which the spinal cord is split into halves by a bony spicule or fibrous band, each half being surrounded by a dural sac. * Myeloschisis (my·elos·chi·sis) is a developmental anomaly characterized by a cleft spinal cord, owing to failure of the

neural plate The neural plate is a key developmental structure that serves as the basis for the nervous system. Cranial to the primitive node of the embryonic primitive streak, ectodermal tissue thickens and flattens to become the neural plate. The region ant ...

to form a complete

neural tube In the developing chordate (including vertebrates), 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, ...

or to rupture of the neural tube after closure. * Diplomyelia (diplo.my.elia) is a true duplication of spinal cord in which these are two dural sacs with two pairs of anterior and posterior nerve roots.

Pathophysiology

Diastematomyelia is a " dysraphic state" of unknown embryonic origin, but is probably initiated by an accessory neurenteric canal (an additional embryonic spinal canal.) This condition may be an isolated phenomenon or may be associated with other segmental anomalies of the

vertebral bodies The spinal column, a defining synapomorphy shared by nearly all vertebrates,Hagfish are believed to have secondarily lost their spinal column is a moderately flexible series of vertebrae (singular vertebra), each constituting a characteristic ...

such as

spina bifida Spina bifida (Latin for 'split spine'; SB) 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, men ...

kyphoscoliosis Kyphoscoliosis describes an abnormal curvature of the spine in both a coronal and sagittal plane. It is a combination of kyphosis and scoliosis. This musculoskeletal disorder often leads to other issues in patients, such as under-ventilation of ...

, butterfly vertebra, hemivertebra and block vertebrae which are observed in most of the cases. Scoliosis is identified in more than half of these patients. In most of the symptomatic patients, the spinal cord is split into halves by a bony spicule or

band, each half being surrounded by a

dural Dural is a suburb of Sydney, in the state of New South Wales, Australia 36 kilometres north-west of the Sydney central business district in the local government areas of Hornsby Shire and The Hills Shire. Dural is part of the Hills District ...

sac. Other conditions, such as intramedullary tumors,

tethered cord Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord.dermoids,

lipoma A lipoma is a benign tumor made of fat tissue. They are generally soft to the touch, movable, and painless. They usually occur just under the skin, but occasionally may be deeper. Most are less than in size. Common locations include upper back, ...

hydromyelia 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 ...

and

Arnold–Chiari malformation Chiari malformation (CM) is a structural defect in the cerebellum, characterized by a downward displacement of one or both cerebellar tonsils through the foramen magnum (the opening at the base of the skull). CMs can cause headaches, difficu ...

s have been described in medical literature, but they are exceptionally rare. Diastematomyelia usually occurs between 9th

thoracic The thorax or chest is a part of the anatomy of humans, mammals, and other tetrapod animals located between the neck and the abdomen. In insects, crustaceans, and the extinct trilobites, the thorax is one of the three main divisions of the crea ...

and 1st

sacral Sacral may refer to: *Sacred Sacred describes something that is dedicated or set apart for the service or worship of a deity; is considered worthy of spiritual respect or devotion; or inspires awe or reverence among believers. The property ...

levels of the spinal column with most being at the level of the upper

lumbar vertebra The lumbar vertebrae are, in human anatomy, the five vertebrae between the rib cage and the pelvis. They are the largest segments of the vertebral column and are characterized by the absence of the foramen transversarium within the transverse ...

Cervical In anatomy, cervical is an adjective that has two meanings: # of or pertaining to any neck. # of or pertaining to the female cervix: i.e., the ''neck'' of the uterus. *Commonly used medical phrases involving the neck are **cervical collar **cerv ...

diastematomyelia is a very rare entity. The extent (or length of spinal cord involved) varies from one affected individual to another. In approximately 60% of patients with diastematomyelia, the two hemicords, each covered by an intact layer of pia

arachnoid Arachnoid may refer to: * Relating to arachnids * Arachnoid (astrogeology), a geological structure found only on the planet Venus * Arachnoid (botany), referring to organs with a cobwebby exterior appearance * Arachnoid granulation, small protrus ...

, travel through a single subarachnoid space surrounded by a single dural sac. Each hemicord has its own

anterior spinal artery In human anatomy, the anterior spinal artery is the artery that supplies the anterior portion of the spinal cord. It arises from branches of the vertebral arteries and courses along the anterior aspect of the spinal cord. It is reinforced by sever ...

. This form of diastematomyelia is not accompanied by any bony spur or fibrous band and is rarely symptomatic unless hydromyelia or tethering is present. The other 40% of patients have a bony spur or a fibrous band that passes through the two hemicords. In these cases, the dura and arachnoid are split into two separate dural and arachnoidal sacs, each surrounding the corresponding hemicord which are not necessarily symmetric. Each hemicord contains a central canal, one dorsal horn (giving rise to a

dorsal nerve root The dorsal root of spinal nerve (or posterior root of spinal nerve or sensory root) is one of two "roots" which emerge from the spinal cord. It emerges directly from the spinal cord, and travels to the dorsal root ganglion. Nerve fibres with the v ...

), and one ventral horn (giving rise to a ventral nerve root.) One study showed the bony spur typically situated at the most inferior aspect of the dural cleft. They advised that if the imaging appears to show otherwise, a second spur (present in about 5% of patients with diastematomyelia) is likely to be present. The

conus medullaris ''Conus'' is a genus of predatory sea snails, or cone snails, marine gastropod mollusks in the family Conidae.Bouchet, P.; Gofas, S. (2015). Conus Linnaeus, 1758. In: MolluscaBase (2015). Accessed through: World Register of Marine Species ...

is situated below the L2 level in more than 75% of these diastematomyelia patients. Thickening of the

filum terminale The filum terminale ("terminal thread") is a delicate strand of fibrous tissue, about 20 cm in length, proceeding downward from the apex of the conus medullaris. It is one of the modifications of pia mater. It gives longitudinal support to th ...

is seen in over half of the cases. While the level of the cleft is variable, it is most commonly found in the lumbar region. The two hemicords usually reunite caudally to the cleft. Occasionally, however, the cleft will extend unusually low and the cord will end with two separate coni medullarae and two fila terminale ("Diplomyelia").

Diagnosis

Diastematomyelie 80jw - MR T2 axial und sag

Adult presentation in diastematomyelia is unusual. With modern imaging techniques, various types of spinal dysraphism are being diagnosed in adults with increasing frequency. The commonest location of the lesion is at first to third lumbar vertebrae. Lumbosacral adult diastematomyelia is even rarer. Bony malformations and dysplasias are generally recognized on plain

x-rays An X-ray, or, much less commonly, X-radiation, is a penetrating form of high-energy electromagnetic radiation. Most X-rays have a wavelength ranging from 10 picometers to 10 nanometers, corresponding to frequencies in the range 30&nbs ...

MRI Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio waves ...

scanning is often the first choice of screening and diagnosis. MRI generally give adequate analysis of the spinal cord deformities although it has some limitations in giving detailed bone anatomy. Combined myelographic and post-myelographic CT scan is the most effective diagnostic tool in demonstrating the detailed bone, intradural and extradural pathological anatomy of the affected and adjacent spinal canal levels and of the bony spur.

Prenatal ultrasound Obstetric ultrasonography, or prenatal ultrasound, is the use of medical ultrasonography in pregnancy, in which sound waves are used to create real-time visual images of the developing embryo or fetus in the uterus (womb). The procedure is a stan ...

diagnosis of this anomaly is usually possible in the early to mid third-trimester. An extra posterior echogenic focus between the fetal spinal laminae is seen with splaying of the posterior elements, thus allowing for early surgical intervention and have a favorable prognosis. Prenate ultrasound could also detect whether the diastematomyelia is isolated, with the skin intact or association with any serious neural tube defects. Progressive neurological lesions may result from the "tethering cord syndrome" (fixation of the spinal cord) by the diastematomyelia phenomenon or any of the associated disorders such as

myelodysplasia A myelodysplastic syndrome (MDS) is one of a group of cancers in which immature blood cells in the bone marrow do not mature, and as a result, do not develop into healthy blood cells. Early on, no symptoms typically are seen. Later, symptoms may ...

, dysraphia of the spinal cord.

Treatment

Surgery
Surgical intervention is warranted in patients who present with new onset neurological signs and symptoms or have a history of progressive neurological manifestations that can be related to this abnormality. The surgical procedure required for the effective treatment of diastematomyelia includes

decompression (surgery) In medicine, decompression refers to the removal or repositioning of any structure compressing any other structure. Common examples include decompressive craniectomy (removal of part of the skull to relieve pressure on the brain), and spinal decomp ...

of neural elements and removal of bony spur. This may be accomplished with or without resection and repair of the duplicated dural sacs. Resection and repair of the duplicated dural sacs is preferred since the dural abnormality may partly contribute to the "tethering" process responsible for the symptoms of this condition. Post-myelographic CT scanning provides individualized detailed maps that enable surgical treatment of cervical diastematomyelia, first performed in 1983.Anand, A.K., Baim, R.S. & Kuchner, E.F., "Cervical Diastematomyelia" Computerized Radiology. 9(1):45-49, 1985 Observation
Asymptomatic patients do not require surgical treatment. These patients should have regular neurological examinations since it is known that the condition can deteriorate. If any progression is identified, then a resection should be performed.

References

External links

{{Congenital malformations and deformations of nervous system Congenital disorders of nervous system Orthopedic problems