TOPIC 35. Congenital defects of the spine and spinal cord. Syringomyelia.

Topic questions
I. Craniovertebral anomalies
1. Dandy-Walker syndrome
2. Chiari syndrome
* Malformation type I
* Malformation type II
II. Anomalies and secondary spinal deformity
Klippel Feil syndrome
III. Spine and spinal cord dysraphia, spinal hernias
1. Spinal dysraphia
2. Spine and spinal cord dysraphia
* Spina bifida occulta
* Full rahiskhizis
* Spina bifida anterior
* Spina bifida complicata
* Spinal hernias
IV. Syringomyelia
1. Pathology
2. Pathogenesis
3. Classification
4. Clinic
5. Diagnostics
6. Treatment
7. Forecast
Terms definition:
Atlas assimilation - a partial or
complete fusion of the cervical
vertebrae and I occipital bone of the
skull, which may not be accompanied
by clinically significant impairment,
while in other cases leads to
compression of the craniovertebral
structures (upper cervical spinal cord
and medulla oblongata), limiting the
upper cervical spine mobility, spine
instability and lower cervical spine
segments development.

Basilar impression - funnel

impression in the occipital Blumenbach
stingray, occipital-vertebral joints and
the foramen magnum, in which there is
some replacement of the spine in the
cranial direction with decreasing of the
posterior fossa size, II cervical vertebra
odontoid bone is higher than normal at foramen magnum or even included
in the cranial cavity.

Basilar impression - lower

stingray divisions, anterior divisions of
the I and odontoid bone of II cervical
vertebra introduction into the cranial
cavity, (MRI, T1-weighted image)

Hydromyelia - expansion of the

spinal cord central canal, the cause of
which can be the channel congenital
anomaly,
usually
observed
simultaneously with spina bifida and
hydrocephalus internus, or secondary
developing in vivo because of various
pathological conditions (compression
of the spinal cord, cerebellar tumor)
when an excessive amount of fluid can
stretch central channel.
Cavernous hemangioma of the
thoracic spinal cord, hydromyelia
Platybasia
interrelation
changes between the skull base bones
and the upper cervical vertebrae, which
is characterized by an increase in
basilar skull angle, ie the angle
between the planum sphenoideum and
Blumenbach stingray, which normally
ranges from 135 to 143 .

The angle between lines drawn

on the base of the anterior cranial fossa
and stingray is typically less than or
equal to 105 (a). Increasing this angle
over 105 is called platybasia (b)

Chiromegaly - excessive length of the upper extremities with an increase of

the hands and fingers.

Status dysraphicus includes

those anomalies of the anatomical
structure of the human body that can be
detected at birth or in early childhood,
which may increase with age or
disappear: chonechondrosternon or
funnel chest, kyphoscoliosis,
lengthening or shortening of the upper
limbs, peculiar bending of the fingers
("monkey 's paw"), various size and
location of the breasts, sensitivity
disorders, often segmental type,
acrocyanosis, bedwetting, mainly in
combination with spina bifida, and a
number of degenerative signs (high
palate, abnormal body hairing,
abnormal teeth development).

Chonechondrosternon

Kyphoscoliosis

Syringomyelia - a cavity in the

spinal cord.

Synostosis
continuous
connection
between
bones.
Pathological synostosis are formed in
unusual place and can lead to serious
illness:
craniostenosis,
congenital
radioulnar synostosis, foot little finger
joint, wrist, vertebrae blocking, etc.
Multiple synostosis of the cranial
sutures with the tower skull
development (oxycephaly)

Meningocele - spinal or craniocele at which hernia consisting of skinned

modified arachnoid and pia mater, filled with cerebrospinal fluid, protrudes through
the bone defect.
I. Craniovertebral anomalies are characterized by defects of the occipital
bone and structures located in the posterior fossa and upper spine and spinal cord
development.
1. Dandy-Walker syndrome is a congenital malformation of the trunk and
caudal cerebellar vermis, leading to incomplete IV ventricle median (Magendie) and
lateral (Luschka's) apertures disclosure. Is manifested with hydrocephalus and often
hydromyelia signs. The last one can cause the development of syringomyelia,
syringobulbia in accordance with the hydrodynamic Gardner theory. Gardner theory:
due to Magendie hole incomplete disclosure CSF pressure is higher in the ventricular
system of the brain, which contributes to reduced drainage and expansion of the
spinal cord central canal and hydromyelia development accompanied by degenerative
changes in central gray matter of the channel wich is adjacent to the expansion.
Dandy-Walker syndrome is characterized by functional insufficiency of the
cerebellum and the medulla oblongata manifestations, the symptoms of
hydrocephalus, intracranial hypertension.
Fig. 1. MRI of a patient with
Dandy-Walker syndrome. Cystoid
masses in the posterior fossa,
hypoplasia of the cerebellar, tentorium
cerebellum high standing.
Diagnostics - CT and MRI studies. Signs of hydrocephalus are revealed,
pronounced particularly with widening of the brain IV ventricle, MRI can detect
deformation of these brain structures.
2. Arnold-Chiari anomaly - a congenital abnormality of hindbrain
development been the posterior fossa and this area brain structures size discrepancy,
wich leads to the the brain stem and cerebellar tonsils omission into the foramen
magnum and their denial at this level.
There are 4 types of Chiari malformation.
Chiari malformation I (adult type) (Fig. 2.) The most common form of
cerebellar abnormalities. This symptom is a mono- or bilateral ptosis of the cerebellar
tonsils through the foramen magnum into the spinal canal (the tonsils, the lower part
of the cerebellum, normally located above the foramen magnum). The most important
factor is the fact that the clinical manifestations appear only on the 3 - 4th life decade,
being a random finding on MRI.
Clinic: headache, neck pain, weakness, numbness of the hands, loss of pain and
temperature sensitivity in them, staggering, dizziness, "beating down nystagmus".

Fig. 2. Anomaly Chiari type 1.

Amygdala I omitted to cervical
vertebra: MRI T2-weighted image

Chiari malformation II (children type) (Fig. 3.). Consists of not only the
cerebellum and brain stem displacement through the foramen magnum but also the
IV ventricle. Characteristic features - the presence of meningomyelocele in the
lumbar region. Neurological defects occur on the background of the occipital bone
and cervical spine abnormalities. There is always a hydrocephalus, often cerebral
aqueduct stenosis. Neurological symptoms are present at birth.
The typical clinical picture: pain in the nape area aggravated by coughing,
sneezing, fainting, dizziness, blurred vision, decreased pain and temperature
sensitivity, as well as muscle strength in the upper extremities, spasticity of the upper
and lower extremities. Sometimes episodes of apnea join (cessation of breathing for a
short period), the weakening of gag reflex, involuntary rapid eye movements.
Fig. 3. Anomaly Chiari type 2.
MRI, T1-weighted image. The brain
stem and cerebellum are displaced
caudally, IV ventricle compressed at
craniovertebral
junction,
hardly
differentiated, also cerebrospinal hernia
is determined at upper thoracic level
and syringomyelia (below)

Chiari malformation II is the cerebellum part and brain stem with meninges
shifting into the meningocele, located in the nape area.
When Chiari malformation IV hypoplasia of the cerebellum is marked and
caused its total hernia; cerebellum can not be distinguished. Chiari malformation type
III and IV are found only rarely.
The pathogenesis of the disease is not completely established. In all likelihood,
there are three pathogenetic factors: (1) due to congenital hereditary osteoneuropaty,
(2) traumatic lesions of sphenoid - ethmoid and sphenoid - occipital part of the ramp
due to birth trauma, (3) hydrodynamic liquor shock into the wall of the spinal cord
central canal.
Diagnosis: MRI of the brain, cervical and thoracic spinal cord (for
syringomyelia exceptions). Ultrasound diagnosis of Arnold-Chiari anomaly in the
fetus is available.
Treatment. When "asymptomatic variant" dynamic monitoring with annual
survey is performed. If low intensity pain is the only symptom, conservative therapy

is used for the treatment: the use of nonsteroidal anti-inflammatory drugs and muscle
relaxants. If there is neurological deficit (numbness, paresis, etc.) the surgical
treatment is performed ( laminectomy, expanding the foramen magnum, etc.). In
some cases the final diagnosis is established during surgical revision. The goal of
surgery is to eliminate nerve structures compression and cerebrospinal fluid current
normalization, for which an increase of the posterior cranial fossa is performed.
II. Anomalies and secondary spinal deformity
Klippel - Feil syndrome (short neck) is a cervical vertebrae congenital
anomalies and fusion. It can be the cervical vertebrae incomplete differentiation and
reducing of their number, sometimes their number is no more than four. The clinical
picture is characterized by a triad: short neck ("the man with no neck", "frog neck"),
low hairline at the neck, a significant limitation of the head mobility. In severe cases,
the chin rests to the sternum, earlobes relate to shoulder girdle, sometimes - the folds
of skin come from the ears to the shoulders (Fig. 4.). The syndrome may occur in
conjunction with other cervical congenital abnormalities; for example, the basilar
impression and atlanto - occipital fusion. In addition, there may be scoliosis, facial
asymmetry, torticollis (a neck strain, characterized by the head inclination to the
affected side, and face turn in a healthy side), wrinkling of the neck skin, synkinesias
(mirror movements, mainly in hands, but sometimes in whole hand) and less
frequently facial muscles paralyzes, ptosis, cleft or high palate. Systemic congenital
anomalies are also possible: the genitourinary system (eg, unilateral absence of
kidney), cardiovascular, central nervous system, deafness due to defects of the inner
ear bones development. According to the radiographic studies there are two forms of
Klippel- Feil syndrome: 1) atlas is fused with other cervical vertebrae, the total
number of which is reduced in this connection, there are usually no more than 4 of
them; 2) cervical vertebrae synostosis, the height of their bodies reduced. Often
combined with platybasia.

Fig. 4. Klippel-Feil syndrome

III. Spine and spinal cord dysraphia, spinal hernias

1. Spinal dysraphia is a malformation associated with tissues of mesodermal
and ectodermal origin incomplete closure along the median suture (from the Greek.
Rhaphe seam) - midline of the spine. Manifestations of spinal dysraphias are
splitting arches of the vertebrae (spina bifida) and soft tissue located sagittally, as
well as different variants of spinal hernias emerging, sometimes dermoid cyst (cyst
containing hair, hair follicles and sebaceous glands), lipoma, a syndrome of "hard"
end filament.

2. Spine and spinal cord dysraphia (Fig. 5.) There are following options
depending on their degree of underdevelopment: 1) spina bifida occulta; 2) spina
bifida complicata; 3) spina bifida anterior; 4) spinal hernias: meningocele,
meningoradikulocele , myelomeningocele mielotsistotsele ; 5) rahiskhizis partial and
full.

Fig. 5. Spine and spinal cord dysraphia

* Hidden spina bifida - spina bifida occulta (from Lat. Spina - awn, bifidus split in half). The most common form of the spine anomalies - the splitting of
vertebrae arches (spina bifida occulta). There can be 1-2 cleft vertebra, but sometimes
most of them are cleft. Cleft arcs ends are often pressed into the lumen of the spinal
canal and cause compression of the dura mater, subdural space and cauda equina
roots, while the bone defect which is covered with soft tissue is intact. This form of
anomalies is detected during spondylography, usually on low-lumbar upper-sacral
levels. Retracted and atrophied skin sometimes is marked in the area of arc splitting,
tissue swelling, scarring, pigmentation, hypertrichosis is also possible.
* Full rahiskhizis - severe dysraphia manifested not only by splitting arcs and
the vertebral bodies, but also the adjoining soft tissue. spinal cord can be seen
through a cleft in the soft tissues immediately after birth. Hernial protrusion is absent.
Vertebral bodies can coalesce in the ventral cleft. Malformations of other vertebrae,
ribs are possible.
* Spina bifida anterior - cleft of the vertebral bodies. It is mainly a random
finding on spondylograms, but can be combined with other developmental defects.
* Spina bifida complicata - cleft of the vertebral arches in combination with
tumor-like growths, representing only by fat or fibrous tissue beneath the skin and
filling vertebrae arcs bone defects, growing together with meninges, roots and the
spinal cord. It is often localized on the lumbosacral level of the spinal column.
* Spinal hernia, arising from vertebrae cleft arches and the soft tissues
splitting, are congenital hernial protrusion of the spinal canal contents: meningocele hernial protrusion of the meninges, filled with CSF; meningoradikulocele - hernia,
consisting of the meninges, spinal roots and CSF; mieloradikulomeningocele - hernia,
including the structure of the spinal cord, spinal roots, meninges and cerebrospinal
fluid; myelocystocele - hernial sac containing a portion of the spinal cord with signs
hydromyelia (Fig. 6, 7.).

Fig. 6. Types of spinal hernias

A - Meningocele,
B, C - Myelocystocele

C
Fig. 7. Localization of spinal
hernias
a - typical localization; b - non
typical localization (in thoracic); c giant spinal hernia; d - rahiskhizis,
lower paraplegia

Diagnostics. Diagnosis is not difficult when spinal hernia. Neurological status

study can tell about hernia sac contents. Precise diagnosis can be achieved by
performaing spondylography and MRI studies.
Only surgical treatment is possible possible.
IV. Syringomyelia - a chronic, slowly progressing disease of the young and
middle age, which is based on the cavities in the spinal cord formation, mainly at the
cervical enlargement level.
1. Pathomorphology. At syringomyelia spinal cord is deformed in the
anteroposterior direction. Cavities of different diameters (1-1.5 cm and barely
noticeable) are visible on cross sections in most cases.
They are located in the central channel, distributes in the side sections to the
posterior horns of the spinal cord. In the case of the large cavities formation spinal
cord is compressed to narrow plate that surrounds syringomyelitic cavity, if smaller
cavities than spinal cord is deformed, asymmetric. Posterior horns and posterior cords
are often deformated. Sometimes cavity revealed only in the spinal cord lateral
funiculus, and the center channel is of normal size or absent (Fig. 8.).
Fig. 8. Spinal cord
A - with syringomyelitic cavity
B - normal


B
2. Pathogenesis. Dysonthogenetic theory links the gliosis occurrence and the
pathological cavities in the spinal cord tissue formation with embryonic development
violation in the early stages (3-6 week) and is due to incomplete or incorrect closure
of neural tube with violation of posterior suture formation (dysraphia) which leads
not only to the spinal cord central channel expansion with diverticula formation, but
also to the fetal tissue accumulation behind the central channel.
Hydrodynamic theory. Increased production of cerebrospinal fluid, which is
normal in the first 6-8 weeks of embryonic development, increases its pressure in the
neural tube , which leads to the Magendie and Luschka holes opening, ie, there is a
connection with the ventricular system and subarachnoid space and central channel
obliteration. In the case of draining holes stenosis or occlusion cerebrospinal fluid
goes into the central channel under pressure, extends it and forms a cavity.
Arnold-Chiari anomaly is combined with syringomyelia in 40% of cases
because of onthogenesis pathology.
Malformations of the spinal cord may also be accompanied with other organs
and tissues impaired development. These are manifested signs of dysraphic status
(Fig. 9.). These include malformations of the skin, muscles, bones, internal organs,
the nervous system: spine curvature, funnel sternum, deformity of the hands and feet,
extra nipples, vertical crease between the eyebrows, split tip of the tongue and upper
lip, high palate, dental anomalies, excessive hair growth, facial asymmetry, eyelid
hypertrophy, akromegaloid features, short neck, enuresis, short stature, long arms, etc.

Fig. 9. Deformation of the upper

limbs when dysraphic status

However, unlike true syringomyelia, various necrotic, and ischemic adhesions

can lead to gliomatosis with cavities formation that is called secondary syringomyelia.
It is possible after hemorrhachis (hemorrhage into the spinal cord), spinal cord injury,
necrotizing myelitis, a spinal cord benign tumor, etc.
3 . Classification:
1. According etiologic and pathogenetic mechanisms:
Idiopathic (true);
secondary.
2. Syringomyelitic process localization:
spinal (cervical-thoracic, cervical, thoracic, lumbar, sacral, total);
stem;
spinal stem.
3. According to clinical manifestations:
posterior horns;
anterior horns;
vegetative-trophic;

 mixed;
bulbar.
4. Clinic. Syringomyelia is a classic version of the gray matter entire lesion at
the level of the cervical-thoracic spinal cord. This presupposes the development of a
typical triad of symptoms:
1. Sensitive violations: segmental dissociated posterior horns - type of
sensitivity violations.
2. Movement disorders: peripheral (flaccid, atrophic) upper limbs paresis.
3. Autonomic dysfunction: trophic and vascular.
Sensory disorders are the main characteristic of the disease. This type of
violation is also called "syringomyelitic". It is characterized by pain and temperature
sensitivity loss while maintaining the tactile and musculoarticular on the upper limbs
and upper torso ("jacket type") (Fig. 10.) .

Fig. 10. Loss of pain and

temperature
sensitivity
at
syringomyelia as a "jacket" when
cavities are formated at the cervical,
thoracic segments of the spinal cord
and brainstem.
Sometimes the first time patients go to a surgeon or traumatologist
complaining about painless chronic wounds, burns.
Deep pain of different locations is common. It has a nagging, unscrews
character, sometimes accompanied by paresthesias, often with hyperpathic
component. Pain may occur long before any objective evidence of disease.
Movement disorders in the upper extremities are represented by sluggish,
atrophic paresis appearing, which are located mainly in the distal parts. They are
characterized by small muscles of the hand malnutrition with the formation of
"clawed hand" or "monkey's paw". Fibrillary twitching are observed in atrophic
muscles. Tendon and periosteal reflexes are reduced or absent.
With the defeat spreading to the lateral spinal cords there are signs of
conducting motor and sensation pathways vilation. Spastic paraparesis of feet appears,
conductor sensitivity violation.
Quite rare is lumbosacral form of the disease, which is characterized by the
same sensory and motor violation of the lower extremities.
Syringomyelia often accompanies syringobulbia, which may be an independent
manifestation of the disease. Thus the cavity formed in the medulla oblongata and / or
varolevom bridge. V, VII, VIII, IX, X, XII cranial nerves nuclei are affected. In this
case, patients have facial pain, temperature and pain hypoesthesia on the face in
Zelder areas while maintaining tactile sense, peripheral paresis of the facial muscles,
hearing loss is detected, nystagmus, bulbar syndrome: dysphonia, dysphagia,
dysarthria, tongue atrophy appears, fibrillar twitching in its muscles.

Vegetative-trophic disorders are extremely polymorphic. This may be a

violation of sweating, hyperhydrosis manifests itself (less anhidrosis) on the face,
upper limbs, trunk. Peripheral circulatory disorders are also possible that manifest
like hyperemia, acrocyanosis. Over time, vegetative-trophic disorders increase.
Appears dry, flaky skin, hyperkeratosis with deep cracks or sores that do not heal,
there may be hypo-or hyperpigmentation, eczematous processes. Nail changes are
marked that are easy to crumble, break. Trophic disorders of osteoarticular system is
manifested: kyphoscoliosis of the thoracic spine, arthrosis, osteoarthropathy,
pathological dislocation of joints, chiromegaly (increasing of hands and fingers of the
upper extremities). The disease is often accompanied by stomach ulcer, myocardial
hypoxia, failure of the pituitary-adrenal system, sexual dysfunction.
5. Diagnostics. The most informative method is the MRI study: typically there
are increasing in spinal cord diameter, presence of cysts filled with cerebrospinal
fluid, which are often localized in the thoracic and cervical spine. Increased cystic
formations in some cases leads to the development of spinal deformities, such as
scoliosis (Fig. 11.).
Fig. 11. Syringomyelitic cavity
at MRI examination

6. Treatment. Surgery. Indications for neurosurgical treatment are: rapid

progression of the disease, liquorodynamic violations increasing, craniovertebral
anomalies. The surgery means withdrawal of cerebrospinal fluid in the other cavities
and craniovertebral junction decompression.
7. Forecast for life is relatively favorable, for recovery is unfavorable