SPINAL DYSRAPHISM

JUNE ANN R. DE VERA, M.D.

SPINA BIFIDA

•Spine split in two

•Used to describe any patient with incomplete closure of the posterior elements of the spinal column

SPINA BIFIDA OCCULTA

•A hidden bony defect as well as other potential hidden anomalies.

SPINA BIFIDA APERTA

•A midline defect that communicates with the external environment and includes myelomeningocele and meningocele.

SPINA BIFIDA CYSTICA

•A sac filled with CSF protruding from the spinal column but can also refer to MMC and meningocele.

OPEN SPINAL DYSRAPHISMS

•Myelomenigocele

•Myelocele

•Hemimyelomeningocele

•Hemimyelocele

CLOSED SPINAL DYSRAPHISMS

•With subcutaneous mass

Lumbosacral

-Lipoma with dural defect

-lipomyelomeningocele

-lipomyeloschisis

-terminal myelocystocele

-meningocele

CLOSED SPINAL DYSRAPHISMS

•With subcutaneous mass

Cervical

-cervical myelocystocele

-cervical myelomenigocele

-meningocele

CLOSED SPINAL DYSRAPHISMS

•Without a subcutaneous mass

Simple dysraphic states

-posterior spina bifida

-intradural and intramedullary lipoma

-filum terminale lipoma

-abnormally long spinal cord

CLOSED SPINAL DYSRAPHISMS

•Without a subcutaneous mass

Complex dysraphic states

-dermal sinus

-caudal regression syndrome

-dorsal enteric fistula

SPINA BIFIDA

•most common disabling birth defect in the US

•second most common disability in

•children

•a type of neural tube defect which is a problem with the spinal cord or its coverings

SPINA BIFIDA

• it occurs if the fetal spinal column does not close completely during first months of pregnancy

• taking folic acid can reduce the risk of having a baby with spina bifida.

ETIOLOGY

•80% of all NTDs are due to multifactorial influences – genetic and environmental

•Environmental factors:

- Low socioeconomic status

- Maternal diabetes mellitus

- Maternal hyperthermia

- Folate deficiency

- Maternal obesity

- Drug exposures- carbamazepine and valproicacid

PRENATAL SCREENING

1.measurement of serum alpha-feto protein and acetylcholinesterase levels at 16-18 weeks post conception.

2. Use of High –resolution ultrasound

3. Amniocentesis to obtain alpha fetoprotein and acetylcholinesterase levels

Guidelines for folic acid supplements

•■ All women of childbearing age: 400 micrograms or 0.4 milligrams/day

•■ Women with a previous NTD pregnancy: 4000

micrograms or 4 milligrams/day one month prior to conception and through the first trimester

•■ High-risk pregnancies (such as a mother who is taking valproic acid or has maternal diabetes): 4 milligrams/day

-American Academy of Pediatrics (AAP)

CLINICAL TYPES OFNEURAL TUBE DEFECTS

•Spina Bifida Occulta

•Bony defect with no herniation of meninges or nervous elements

• Incidental finding in 5% to 36% of adults; a small percent can develop clinical findings

•Can be associated with pigmented nevus, angioma, hairy patch, dimple, and dermoidsinus

•Spina Bifida Occulta

•Usually found in the lumbosacral/sacral segments

•Can have associated tethered cord with development

•May have bowel and bladder involvement

•No hydrocephalus or Chiari malformation

•Spina Bifida Cystica

•Bony defect with herniation of spina canal elements.

•■ Meningocele-herniation of the meninges, but does not contain neural tissue

• Usually normal neurological exam

• No association with hydrocephalus or Chiari

•malformation

• Uncommon—occurs less than 10%

•Spina Bifida Cystica

•Meningomyelocele-herniation of meninges and neural elements

• Most common

• Associated with hydrocephalus and Chiari type 2 malformations

• Abnormal motor and sensory exam

• Neurogenic bowel and bladder

• 75% in the lumbosacral segment

Myelomeningocoele

•The most common congenital anomaly of the CNS

•The second most common disabling condition in childhood nest to Cerebral Palsy

•Caudal Regression Syndrome

•Absence of the sacrum and portions of the lumbar spine

• Associated with maternal diabetes

•Associated findings include syringomyelia, anorectal stenosis, renal abnormalities, external genital abnormalities, and cardiac problems

•Motor and sensory abnormalities

•A full term male newborn was deliveredvaginally with lower limb deformities. Themother was a non-diabetic primigravida. Thedeformities were in the form of hyperextensionof the lower limbs, club foot, hypoplastic femurand tibia .

•The baby had motor and sensory neurologicaldeficit in the form of lower motor neuronparaplegia and absent anal reflex. There wasno imperforate anus but it was malposed.There were two sinuses on either sides of thebuttocks. There was no other neural tubedefect or renal abnormalities on sonography.

CLINICAL SIGNS

•Thoracic Lesions

•Thoracic-level malformations spare the upper extremities, with the exception of decreased ability to abduct the fifth digit

(thoracic level 1 = T1)

•Kyphosis and kyphoscoliosis may

result from trunk weakness and be more prominent in individuals with vertebral anomalies

•L1–L3 Segment

•Hip flexors and hip adductors are innervated at the L1–L2 levels.

•With L2 sparing, knee extensors have partial innervation but are not at full strength.

•L1–L3 Segment

•Distal lower extremity muscle strength is absent.

•Development of contractures and early paralytic hip dislocation

•Pelvic obliquity seen in asymmetric hip pathology enhances scoliosis.

•Gravity-related foot equinus deformity may develop.

L4–L5 Segments

• Innervation of the hip flexors, hip adductors, and knee extensors are usually complete; however, hip abductors and hip extensors remain weakened.

•Coxa valga and acetabular dysplasia are still a concern.

•Typically, hip dislocation occurs later at the L4–L5 segmental levels

Sacral Segments

•Active plantarflexion is present and some toe movements are present.

•Intrinsic foot muscles remain weak and may result in a cavus foot deformity with clawing of the toes.

•SENSORY DEFICIT

•skin injuries because of decreased ability to perceive pressure, pain, trauma, or heat

ASSOCIATED CNS MALFORMATIONS

•Spinal cord

•Tethering

•Distal focal abnormalities

•Thick, short filum terminale

•Supernumerary fibrous bands

•Lumbosacral tumors (lipoma, fibrolipoma, fibroma dermoid, epidermoid cyst, teratoma)

•Brainstem

•Arnold type II malformation

•Kinking, inferior displacement of medulla

•Herniation into cervical spinal canal

•Abnormalities of nuclear structures

•Dysgenesis, hypoplasia, aplasia, defectivemyelination

•Hemorrhage, ischemic necrosis

•Cerebellum

•Arnold-Chiari type II malformation

•Elongated vermis, inferior displacement

•Herniation into cervical spinal canal

•Abnormal nuclear structures

•Dysplasia, heterotopia, heterotaxia

Myelomeningocele in Neonates

•Back Defect

- Early closure (within 72 hours of delivery) reduces the risk of infection in the CNS.

- Hydrocephalus often develops after closure.

Myelomeningocele in Neonates

•Hydrocephalus

- Most infants require VP shunting

- 15% - severe hydrocephalus which require immediate shunting

- Thoracic lesions with higher incidence compared to lumbar and sacral.

- Delayed –onset may present with signs of increased intracranial pressure.

Myelomeningocele in Neonates

•Early bladder management

-More than 90% of infants with MMC will have a neurogenic bladder

- Intermittent catheterization program if unable to void

- Check the post –void residual volume if able to void.

Myelomeningocele in Neonates

Assessment of Neurologic Level

•QUESTION: “Will my child be able to walk?”

•Best predictor of motor function is the actual motor examination.

Myelomeningocele in Neonates

Therapy

GOAL: To develop and implement a comprehensive plan that enables a child to attain a maximal level of function in all areas.

Therapist plays a key role.

For children with contractures – PROMEs

Myelomeningocele in Children

•2 most common shunt complications:

- Infection

- Obstruction

Symptoms of shunt malfunction:

- headache, vomiting, lethargy, seizures, irritability, swelling and redness along shunt tract, decreased school performance

Myelomeningocele in Children

•Symptomatic Arnold –Chiari malformation-leading cause of death for infant with MMC

•Signs and symtoms:

- Intermittent obstructive apnea, cyanosis, bradycardia, dysphagia, nystagmus, upper extremity weakness, spasticity

Myelomeningocele in Children

•Hydromyelia

- Dilatation of the central canal of the spinal cord

-common in children with MMC

- Rapidly progressive scoliosis, change in strength and coordination of the upper and lower extremities, and spasticity.

Myelomeningocele in Children

•Tethered Cord Syndrome

- Traction leads to progressive urologic, orthopedic or neurologic decline.

- Spinal cord normally terminates at L1-L2 but adhesions from MMC repair can tether the cord to lower lumbar or sacral region.

- Early surgical correction should be done.

Myelomeningocele in Children

•Neurogenic Bladder

- Monitor residual urine volume and incontinence

- Crede Maneuver – for incomplete emptying

- Children should be taught clean

intermittent catheterization as early as age 5.

Myelomeningocele in Children

•Neurogenic Bowel

-Impaired rectal sensation, impaired sphincter function, and altered colonic motillity

Myelomeningocele in Children

•Endocrine disorders

- Disturbed growth and development

- CNS anomalies and hydrocephalus put the patient with MMC at increased risk for hypothalamic- pituitary dysfunction due to increased pressure on the hypothalamus.

- Growth –hormone deficiency

Myelomeningocele in Children

•Musculoskeletal

Motor innervation

- Flaccid paraplegia

- Combination of upper and lower motor neuron signs

- Asymmetric findings on motor and sensory testing

Myelomeningocele in Children

•The level of neurologic impairment influences medical providers’ expectations for functional outcome as well as musculoskeletal deformities and complications to anticipate.

Myelomeningocele in Children

•Hip deformity

•Knee flexion or extension contractures

•Foot deformities

•Spine deformities

•Pathologic fractures

Myelomeningocele in Children

•MOBILITY

-Almost all children with MMC are able to achieve some degree of independent mobility.

Ambulatory function groups:

1. Community ambulation

2. Household ambulation

3. Non functional ambulation

4. No ambulation

Myelomeningocele in Children

•MOBILITY

-Generally, most patients with SACRAL level involvement are community ambulators.

THORACIC LEVEL involvement –NONambulators

Myelomeningocele in Children

• ORTHOSES

GOALS:

1. To prevent deformity

2. To support normal joint alignment and mechanics

3. To control rance of motion during gait

4. To improve function

• AFO is the most prescribed

• Parapodium or reciprocationg gait othosis (RGO) – for upright mobility of a child with thoracic level involvement

Myelomeningocele in Children

•SKIN BREAKDOWN

- Pressure sores

- Psychologic and Social Issues

- Cognitive function – lower IQ scores

- Behavior – less adaptable, more withdrawn, less attentive

Myelomeningocele in Adults

•75-85% of individuals with MMC survive to early adulthood

•Complications seen in adults:

- VP shunt infections and malfunctions

- Syringomyelia

- Symptomatic tethered cord

- Symptomatic type II chiari malformation

Myelomeningocele in Adults

•Musculoskeletal problems:

- Shoulder pain is common in wheelchair users

- Most common injuries in chronic wheelchair users: rotator cuff disorders and bicipitaltendonitis

Myelomeningocele in Adults

• Charcot joints in foot and ankle (followed by hip and knee)

• Bracing is necessary to limit movement in affected joints.

• Factors affecting ambulation:

- Spasticity

- Hip and knee flexion contractures

- Low back pain

- Lack of motivation

- Medical complications

Myelomeningocele in Adults

•Renal damage – most common cause of morbidity and mortality among individuals with MMC.

•80% of adults with MMC can achieve social continence with proper management.

Myelomeningocele in Adults

•Specialized sex education pertaining to increased risk of having a child with NTD should be given.

•Women with MMC of childbearing age should take 4mg of folic acid.

TREATMENT

• Multidisciplinary team approach:

• neurosurgery

• orthopedic surgery

• urology

• rehabilitation medicine

• physical and occupational therapy

• social work

• nutrition

• and nursing

•Neurosurgical Treatment

•repair of an open neural tube defect,

•such as a cystic lesion, is usually performed on the first day of life

•Hydrocephalus shunting

TREATMENT

•Treatment of Neurogenic Bladder

•Antibiotic Prophylaxis and BacteriuriaTreatment

•Bowel Mananagement

ORTHOPEDIC ISSUES

• Clinical Case. JR is a three-year-old with a history of a meningomyelocele at an L3 level. The family came in today to discuss the orthopedic issues. They feel that his hips are popping and he has a difference in his leg lengths. They also want to know if he is going to develop a scoliosis.

•SPINE

• those with thoracic lesions have an 80% to 100% chance of developing scoliosis

•a TLSO is a good option to encourage the spine to be in as straight a posture as possible, especially during those activities

when the pressure on the spine is the

greatest.

•SPINE

•The pressure on the spine is greatest in sitting, followed by standing, and least in the supine position.

•Surgical options should be considered when spine curves are above 45 degrees and the child is at an appropriate developmental level.

•HIP

•The development of hip flexion contractures was highest in the thoracic- and high lumbar–level lesions.

•Hip flexion contractures can be treated with soft tissue releases.

•Nonsurgical interventions include lying prone for 30 minutes daily.

•KNEE

•Knee flexion contractures a common occurrence at all neurologic levels, but are seen in a higher frequency in thoracic and high lumbar lesions.

•Treatment is geared toward preventive strategies of stretching and standing.

•When all else fails, surgical interventions are indicated.

•Contractures of greater than 30 degrees often require surgery.

•TIBIA

•Rotational deformities in the tibia are fairly common and can have a functional impact on ambulation.

• Internal and external tibial torsion can both affect gait patterns.

•FEET

•The clubfoot (talipes equinovarus) deformity in these children can be more rigid than in other populations.

•Serial casting is often not effective, and surgical intervention is often required.

•Timing for surgery is before age 2 years.

PROGNOSIS

•The prognosis for individuals with SB depends on the number and severity of abnormalities.

•Prognosis is poorest for those with complete paralysis, hydrocephalus, and other congenital defects.

•With proper care, most children with SB live well into adulthood.