L3.3 Spina Bifida Flashcards by Naomi Nakazato

Intro to Spina Bifida

Main cause of Spina Bifida

Congential Malformations of the vertebral column and spinal cord

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Intro to Spina Bifida

Failure of the neural tube to close spontaneously between the ___ and ___ week of in-utero development

3rd and 4th Week

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Intro to Spina Bifida

Cases are highest amongst this race and gender

Whites and Females

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Intro to Spina Bifida

Can Spina Bifida be prevented?

Yes it can with the use of folic acid

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Intro to Spina Bifida

Most infants born myelomeningocele are born to whom?

Mothers with no previously affected children

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Intro to Spina Bifida

Women with what have a 2-10 fold higher risk

Pregentational Diabetes

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Intro to Spina Bifida

What are other factors of Spina Bifida?

Maternal obesity
Gestational diabetes
Hyperthermia/Maternal Febrile
Intrauterine exposure to antiepileptic drugs
Drugs used to induce ovulation
Low socioeconomic class
Midspring concepttion
Increase maternal age

Intrauterine exposure to antiepileptic drugs (Most Important)

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Intro to Spina Bifida

Examples of antiepileptic drugs with teratogenic

Valporate and carbamazepine

Both are maintenance for seizure, so change the antipileptic drugs

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Intro to Spina Bifida

Recommended Amount of Folic Acid Intake and Time

400 nng or 0.4 mg for at least 1 month before conception and during 1st trimester of pregnancy

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Intro to Spina Bifida

Recommended Amount of Folic Acid Intake and Time for mother that already has a child with neural tube defect

4mg

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Pathogenesis

Development of the nervous system during embryonic phase

Neurulation

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Pathogenesis

Closure of the neural tube thus forming brain and spinal cord (until Day 25)

Phase 1

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Pathogenesis

Formulation of the caudal structures of the neural tube

Forms the sacral and coccygeal portions (26th day of gestation)

Phase 2

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Pathogenesis

Failure of closure of the sacral and coccygeal portions results in what?

Varying degree of spinal dysraphism

Dysraphism = Incomplete fusion

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Pathogenesis

(?) appears as the groove in the epiblast layer

Primitive Streak (Week 2)

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Pathogenesis

Cells migrate and form 3 germ layers namely: (From most outer layer to most inner)

Ectoderm
Mesoderm
Endoderm

By 3rd week, the ectoderm will have a neural tube

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Pathogenesis

Week the notochord appears in the mesoderm

3rd Week

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Pathogenesis

The notochord is what secretes growth factor that stimulates what?

Differentiation of the ectoderm to neuroectoderm forming the neural endplate

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Pathogenesis

Process of how the neural tube is formed

From the neural plate, edges rise to form neurla folrd meetin in the midline and fuse to become the neural tube

This becomes the brain and spinal cord

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Pathogenesis

This becomes the peripheral nervous system and autonomic spinal nerves

Neural Crest

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Pathogenesis

What usually occurs on the 24th day of gestation?

Closure of the cranial end

(Also called 38 days from LMP or last menstrual period)

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Pathogenesis

What is the result of the failure of closure of the rostal neuropore

Rostal Neuropore - Cranial open end of the neural tube

Anencephaly

Defect where the brain and spinal cord have missing parts; Can die early

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Pathogenesis

What occurs on the 26th day of gestation?

(40 days of LMP)

Closure of the caudal end

Also called Posterior (Caudal) Neuropore

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Pathogenesis

Most common lesions when there is defect at the closure of the caudal end?

Through mid-lumbar

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# Pathogenesis What results from the failure of fusion or closure of the caudal neuropore?

Initiates Spina Bifida Cystica or Myelomeningocele

# Pathogenesis Process of the formation of the Spinal Cord

Caudal regression and rostral extension | Occurs by Day 53

# Pathogenesis Site of lesion if neural tube does not close by Day 53

Lesions at the Lumbosacral Region

# Clinical Types & Associated Malformation Two major types of Spina Bifida

Spina Bifida Occulta and Spina Bifida Cystica/Manifesta

# Clinical Types & Associated Malformation Type of Spina Bifida that manifests no symptoms; unidentifiable until seen in an xray

Spina Bifida Occulta

# Clinical Types & Associated Malformation Type of Spina Bifida that is dependent on what contains in the cyst

Spina Bifida Cystica/Manifesta

# Clinical Types & Associated Malformation (Spina Bifida Occulta) Site of lesion due to the failure of fusion

Posterior elements of the vertebrae alone | XRay shows skin is close/tuft of hair at site of lesion

# Clinical Types & Associated Malformation (Spina Bifida Cystica) Type of SB Cystica: Producing sac contains meninged and spinal fluid

Meningocele

# Clinical Types & Associated Malformation (Spina Bifida Cystica) Type of SB Cystica: Producing sac contains meninges, spinal cord, spinal fluid

Myelomeningocele

# Clinical Types & Associated Malformation (Spina Bifida Cystica) Type SB Cystica: Cystic cavity is in front of the anterior wall of the spinal cord

Myelocele

# Clinical Types & Associated Malformation (Spina Bifida Occulta) Associated Findings (seen in 50%)

1. Pinevus Nevus (mole) 2. Angioma (Blood vessels) 3. Hirsute Patch (hairy patch) 4. Dimple or Dermal Sinus Overlying Skin (Tuft of Hair) 5. Cafe Au Lait Spots (Birthmarks)

# Clinical Types & Associated Malformation (Spina Bifida Occulta) Spinal Cord Level Involved

Lumbosacral/Sacral Region (L5 & S1)

# Clinical Types & Associated Malformation (Spina Bifida Occulta) Population Affected

5-10% of the Population

# Clinical Types & Associated Malformation (Meningocele) ____ and form a cystic sac

Meninges herniate

# Clinical Types & Associated Malformation (Meningocele) Contents of Cystic Sac

Spinal Fluid Meninges

# Clinical Types & Associated Malformation (Meningocele) Associated Findings

1. W/wo intact skin site of sac 2. INC skin coverage leads to leakage of CSF

# Clinical Types & Associated Malformation (Meningocele) Clinical Sx

1. Neurological Signs are normal 2. <10% of cases of SB Cystica

# Clinical Types & Associated Malformation (Meningocele) Spinal Cord Level

75% - Lumbar-Lumbosacral 25% - Thoracic

# Clinical Types & Associated Malformation (Myelomeningocele) Contents of Cystic Sac

1. Spinal Fluid 2. Meninges 3. Spinal Cord

# Clinical Types & Associated Malformation (Myelomeningocele) Associated Findings

Arnold Chiari | Complicated by hydrocephalus in over 90%

# Clinical Types & Associated Malformation (Myelomeningocele) Clinical Sx

1. Motor Paralysis 2. Sensory Deficits 3. Neurogenic Bowel and Bladder

# Clinical Types & Associated Malformation (Myelomeningocele) Spinal Cord Level

75% at lumbar and lumbosacral segments

# Clinical Types & Associated Malformation (Myelomeningocele) Population affected

Majority of the group w/ Spina Bifida Cystica

# Clinical Types & Associated Malformation (Myelomeningocele) What makes the abnormal transmission of nervous impulses impossible resulting in loss of motor and sensory function below the lesion?

Abnormal growth of the cord and the tortuous pathway of neural elements | Common in lumbosaral

# Clinical Types & Associated Malformation (Myelocele) Where is the cystic cavity located?

In front of the anterior wall of the spinal cord

# Clinical Types & Associated Malformation (Myelocele) Spinal Cord Level

75% at the lumbar and lumbosacral

# Clinical Types & Associated Malformation (Myelocele) Cyst pushes the spinal cord out which causes what?

Tethered cord and other sx

# Clinical Types & Associated Malformation Occurs when excessive fatty (lipomatous) tissue is within the vertebral canal attached to the spinal cord or filum terminale

Lipomeningocele | Development of motor and sensory deficits & can pull spinal cord

# Clinical Types & Associated Malformation Complete absene of skin and sac with exposure of the muscle and presence of a dysplastic spinal cord w/o evidence of a covering

Rachischisis

# Clinical Types & Associated Malformation Affectation of the caudal part where there is no covering of the spinal cord or skin did not fuse (exposed spinal cord)

Craniorachischisis

# Clinical S/Sx and Course Clinical Manifestations

1. Motor Loss 2. Sensory Loss (Neurogenic Bladder) 3. Learning Disability 4. Hydrocephalus

# Clinical S/Sx and Course Increase level of affectation = ______ IQ

Dec IQ

# Clinical S/Sx and Course Sacral Affectation =

No learning disability

# Clinical S/Sx and Course Abnormal accumulation of CSF in the cranial vault d/t overproduction or failure in absorption of fluid/obstruction in the normal CSF flow

Hydrocephalus | Accumulation of CSF in the brain & cause pressure

# Clinical S/Sx and Course Motor and sensory deficits vary according to?

Level and extent of spinal cord anomaly

# Clinical S/Sx and Course Affectation @ these sites: 1. Thoracic Lesion leads to

1. Paraplegia 2. Hyperreflexia (UMNL Sx)

# Clinical S/Sx and Course Motor paralysis is usually the what type?

LMN type

# Clinical S/Sx and Course T/F: Neurogenic bowel and bladder is a common clinical sx

True

# Clinical S/Sx and Course (Thoracic Lesions) Spares which areas

UEs and Abdomen | Everything below will be absent = total paralysis of LE

# Clinical S/Sx and Course (Thoracic Lesions) Manifestations in the T6-T12

1. Weakness of intercostals (late sitting), abdominals, and back muscles 2. Kyphosis and kyphoscoliosis 3. Flaccid legs/ little spasticity 4. Flail Paralysis

# Clinical S/Sx and Course (Thoracic Lesions) Flail Paralysis Manifestation

1. Hip ER & Abd 2. Ankle PF d/t gravity

# Clinical S/Sx and Course (Thoracic Lesions) Common Findings

1. Contracture of hip & knee flexion + ankle PF 2. Foot in equinus (PF)

# Clinical S/Sx and Course (Thoracic Lesions) L1-L3 Segment Spared

* (+) Hip flexors and Add which can develop early paralytic hip dislocation * Gravity-related equinus foot deformity

# Clinical S/Sx and Course (Thoracic Lesions) L4 (+) Knee Extensors Spared

* Hip extensors and abductors remain weak * Coxa Valga and acetabular dysplasia (slow hip dislocation)

# Clinical S/Sx and Course (Thoracic Lesions) L5 (+) Gluteal Max, Medius & Hamstrings Spared

* Less knee extension contracture (possible hip) * Knee flexion contracture is possible * Foot is in calcaneus attitude

# Clinical S/Sx and Course (Sacral Lesions) Manifestations

1. (+) PF Weak 2. Intrinsic foot muscles still weak; pes cavus with clawing of toes

# Clinical S/Sx and Course (Associated Malformations) Not associated with SB occulta but is common in cystica (myelomeningocele)

Arnold Chiari Type II

# Clinical S/Sx and Course (Associated Malformations) Arnold Chiari Type II Manifestation

Caudal displacement or herniation into the cervical spinal canal of the medulla, lower pons, causing an elongation of the 4th ventricle and cerebellar vermis | Associated with hydrocephalus

# Clinical S/Sx and Course (Associated Malformations) Sx of Arnold Chiari II

1. Stridor 2. Apnea 3. Gastroesophageal reflux 4. Paralysis of vocal cords 5. Tongue fasciculations 6. Facial Palsy 7. Ataxia | Marami pa pero these are the ones na most likely na lumabas (feeling ko)

# Clinical S/Sx and Course (Associated Malformations) Caused by tissue attachments that limit the movement of the spinal cord within the spinal column | Causes abnormal stretching of the spinal cord

Tethered Cord Syndrome | 20-50% of children

# Clinical S/Sx and Course (Associated Malformations) Polymicrogryria, Heterotropia, Hypoplasia of the hypothalamus, and Angenesis of oflactory bulb, tracts, and corpus callosum

Forebrain Malformation

# Clinical S/Sx and Course (Primary Functional Deficits) Depends on the level and extent of spinal cord anomaly (Motor problem paralysis)

Paraplegia | The higher the lesion, the more weakness the patient has

# Clinical S/Sx and Course (Primary Functional Deficits) Low IQ, concentration and attention deficits, lower performance scores on visual perception and visual motor task, and personality problem

Mental Retardation

# Clinical S/Sx and Course (Primary Functional Deficits) Weak fo absent detrusor muscle contraction (Cannot release urine) | Under Neurogenic Sphincter Dysfunction

Hypotonic Bladder (LMN) | Emptying is incomplete causes overdistention results to retrograde flow

# Clinical S/Sx and Course (Primary Functional Deficits) Voiding bladder is intact w/ detrussor contractions are uninhibited d/t loss of central control

Hypertonic Bladder (Spastic) | High intravesical pressure leads to reflux (Incontinence)

# Clinical S/Sx and Course (Primary Functional Deficits) Specific severe disturbance of voiding function where bladder and sphincter contractions occur simultaneously

Detrusor-Sphincter Dyssynergia | High intravesical pressure leads to reflux

# Dx and Prognosis Info from Prenatal Diagnosis

1. (+) Familial History 2. Measurement of maternal serum and amniotic fluid 3. Fetal ultrasouns

# Dx and Prognosis Alphafetoprotein is normally extreted into?

Fetal Urine by babies (found in amniotic fluid) | Peaks at around 6-14 weeks and dec afterwards

# Dx and Prognosis Open tube defects allow leakage of fetal CSF leading to?

Elevated serum AFP by 13-15th post conceptual week

# Dx and Prognosis Usual time of testing in maternal serum is ?

16th to 18th week of gestation

# Dx and Prognosis Amniocentesis may be done by?

16th to 18th week for confirmation

# Dx and Prognosis Fetal Ultrasound can be done by

16th to 24th weeks of gesatation

# Dx and Prognosis Finding in fetal skull d/t loss of normal convex shape of frontal bone and appears flat in patients with SB

Lemon Sign

# Prognosis Children with prenatally Dx myelomeningocele suggests?

Less severe ventroculomegaly

# Prognosis Lower anatomic level of lesion on prenatal ultrasonogram predict what?

Better developmental outcomes in childhood

# Prognosis When can fetal surgery be done

20-25 weeks of gestation | Can be done as soon as they diagnose it at 16-24 wks ## Footnote 94% reversal in hindbrain herniation (Arnold Chiari Malformation)

# Management (Rehabilitation Treatment) MSK System Treatments

1. Management begins in the newbron 2. PROM to all joint below level of paralysis 3. Emphasis on joints with evident muscle imbalance 4. Frequent turning to avoid contractures and pressure sores 5. Strengthening exercises for partially innervated muscles

# Management (Rehabilitation Treatment) Motor function is close to normal during when?

1st half year of life unless complications | Delays are obvious in 2nd half of the 1st year of life

# Management (Rehabilitation Treatment) T/F: Provision of adaptive equipment for assisting in early motor milestone and exploratory behavior is not necessary

False. It is important | Ex. Chair - to develop balance

# Management (Rehabilitation Treatment) When does rolling start if the site of lesion is in the thoracic area?

18mo. with compensatory strategies using arm

# Management (Rehabilitation Treatment) Patient is able to perform what, if the site of lesion is at the mid lumbar and L5 or sacral region?

Get up on hands and knees to crawl

# Management (Rehabilitation Treatment) What is needed when the patient has diff in sitting (Lesion at T12)

(+) Trunk control

# Management (Rehabilitation Treatment) What sitting level is achieved when the site of lesion is mid lumbar?

Sit with some delay and increased lordosis

# Management (Rehabilitation Treatment) What sitting level can the patient perform when the site of lesion is L4-L5 spared?

Child can sit normally

# Management (Rehabilitation Treatment) What level of ambulation can the aptient do when the site of lesion is within the thoracic region?

Child require assistive devices for passive standing (braces) | Started at 18mos.

# Management (Rehabilitation Treatment) What is required of the patient if the site of lesion is at the lower thoracic and lumbar region?

Often require devices (reciprocal gait orthosis) | Used after 3yrs old

# Management (Rehabilitation Treatment) how is tension created during ambulation?

Created by forward stepping which generates extension moment at the contralateral hip

# Management (Rehabilitation Treatment) When the L3 is spared, what orthosis is recommended?

AFO

# Management (Rehabilitation Treatment) In low lumbar lesions, the child should be able to pull to stand and cruise at the usual age like ??

10 months

# Management (Rehabilitation Treatment) In low lumbar lesions, the child walks at 2y/o with what manifesations?

1. Trendelenburg Lurch (Lurching Gait) 2. Gastrocnemius limp

# Management (Rehabilitation Treatment) At what age can a patient achieve crutch walking when the site of lesion is at the low thoracic lesion and upper lumbar lesion?

4-5 years

# Management (Rehabilitation Treatment) T/F: Sitting balance and motor level are early predictors of walking.

True | The higher the lesion is, the poorer is the prognosis of walking

# Management (Rehabilitation Treatment) Unfavorable factors for ambulation

1. Deformities of the spine and lower extremities 2. Obesity (Harder to lift themselves up)

# Management (Rehabilitation Treatment) This orthosis enhances function and mobility of children with T11-L3 deficits from 6-15 y/o

Hip Guidance Orthosis

# Management (Neurological Treatment) Delay closure for the spinal defect until 3 to 6 mos of age results to what?

High mortality rate due to infection

# Management (Neurological Treatment) What would an open defect enable?

Infection to enter the CNS

# Management (Neurological Treatment) What are the criteria for not performing immediate surgery?

1. Complete paralysis of both legs with lesions L1 2. Significant hydrocephalus with enlarged head present on the first day of life 3. Serious associted malformation of other organs 4. Evidence of cerebral birth injury

# Management (Urologic Treatment) When does urologic assessment and treatment of bladder dysfunction start?

Neonatal period

# Management (Urologic Treatment) Primary aims of urologic treatment

1. Control incontinence 2. Prevent and control infections 3. Preserve kidney function (most common cause of death)

# Management (Urologic Treatment) When should intermittent catherization program begin?

Whn residual volume is >/ 20cc

# Management (Urologic Treatment) Self-independent catherization may be achieved in what age?

5-6 yrs old

# Management (Urologic Treatment) T/F: Girls learn intermittent catherization more easily than boys

False

# Management (Urologic Treatment) When is ICP recommended?

Age of 2 years

# Management (Orthopedic Treatment) Goal of orthopedic treatment

Maintain a stable spine with best possible correction

# Management (Orthopedic Treatment) Spinal deformities occur most commonly where?

In thoracic lesions with 80-100% of patients affected by the age of 14-15 years

# Management (Orthopedic Treatment) Common orthopedic deformities to be addressed

Kyphosis, Scoliosis, knee flexion contracture, rigid club foot

# Management (Orthopedic Treatment) Orthosis for treatment of mild scoliosis

TLSO

# Management (Orthopedic Treatment) Treatment for rapidly progressive scoliosis

Check for tethered cord which can cause rapid scoliosis (surgical correction)

# Management (Orthopedic Treatment) Treatment for Gibbous (Kyphotic) Deformity

Kyophectomy

# Management (Orthopedic Treatment) Common manifestation in paralytic scoliosis

Hip dislocation and pelvic obliquity

# Management (Orthopedic Treatment) What is the best course of action when there is bilateral hip dislocation w/o restriction of joint mobility

Best left alone if the child will not stand up | Common in upper thorasis lesion

# Management (Orthopedic Treatment) Unilateral dislocation or asymmetric contractures may be treated as these can lead to what?

Lead to pelvic obliquitym difficulty in sitting, and decubiti (pressure ulcurs)

# Management (Orthopedic Treatment) Knee flexion contracture can occur due to?

Weak quadriceps, positional factors or poor posture, fx, spasticity

# Management (Orthopedic Treatment) Equinus deformity is often treated with?

Stertching of the achilles tendon or lengthening (surgical procedure)

# Management (Orthopedic Treatment) Treatment for Calcaneus Foot Deformity (Calcaneal Gait)

Posterior transfer of tibialis anterior is performed at >5 years of age

# Management (Orthopedic Treatment) Treatment used to correct severe claw toe deformity and pes cavus?

Flexor tenodesis or transfer and plantar fascia fasciotomy