spina bifida - dr hasan nugud bifida.pdf · · 2015-04-23spina bifida spina bifida occulta : ......

Spina Bifida

Dr Hasan Nugud

Consultant

Paediatric Surgeon DR/HN/1

Spina Bifida

Spina Bifida (SB), is a neural tube defect (NTD), that occurs when the vertebrae (arches) and /or spinal cord of the fetus fail to fuse in the mid line with or without protrusion (herniation) and dysplasia of the spinal cord ,its associated membranes and distal nerves , resulting in varying degrees of CNS damage .

Dr/HN/2

Spina Bifida

Spina bifida (SB) itself means split spine.

When the brain itself is not completely developed the condition is called anencephally.

When a portion of it “the spine”, is abnormally formed , spina bifida results,

The damage is permanent.

Dr/HN/3

Spina Bifida

Calssification :

1-Spina bifida occulta,

2-Spina bifida cystica;

a-Meningocele,

b-Myelomeningocele,

3-Rare types :

-Amelia,

-Rachischisis

Dr/HN/4

Spina Bifida

Spina bifida is actually one of a

number of conditions called NTD

that occur when the CNS of the

fetus fails to fold and fuse at some

point along it length.

This can occur anywhere from the

brain to the end of the spinal

cord.The bones (vertebral

arches) of the spinal column which

surround the developing spinal

cord do not close . Dr/HN/5

Spina Bifida

Spina Bifida Occulta :

The vertebrae are bifid without a

menigocele or myelomeningocele

below the intact skin, commonly

affects the 5th lumbar and first

sacral vertebrae

Dr/HN/6

Spina Bifida


The term suggests that the lesion

is hidden below the intact skin, but

it is not always so, sometimes the

presence a “signature mark” as a

superficial clue may over lie the

anomaly such as; a patch of a dark

hair,pigmented naevus,

angiomatus area, lipoma, simple

dimple or sinus. Dr/HN/7

Spina Bifida

Dr/HN/8

Spina Bifida

Dr/HN/9

Spina Bifida

Amelia :

The spinal cord may be absent, split or

disorganized,

Amelia occurs with gross spina bifida

associated with anencephaly

Rachischisis:

The most severe form. Incomplete

failure of fusion of the neural plates

Neural tube lies open. No sac is

present, falttend spinal cord red down

the back.

Dr/HN/10

Spina Bifida

During the first 28 days of

pregnancy the brain and spinal

cord of an embryo form,

During this period (28 days), spina

bifida occurs, before most women

even know that they are pregnant,

Occurs in 1/750-1000 pregnancies.

Dr/HN/11

Spina Bifida

Etiology :

There is no single known cause of

SB. Research continues into the

effects of factors such as heredity ,

nutrition, environment, pollution,

and physical damage to the

embryo.

The risk of SB occuring in

subsequent children is certainly

increased. Dr/HN/12

Spina Bifida

Alfa Feto Protein (AFP):

AFP is produced by all fetuses but higher in cases of open CNS(NTD)

Pregnant woman’s blood can be tested for AFP as early as the 16th week of gestation,

Amniocentesis at 14-17th weeks of gestation is more accurate ,(disad- vantage of miscarriage).

Dr/HN/13

Spina Bifida

AFP : (cont…)

AFP testing can detect up to 85%

of these cases, but this test is not

specific for SB and can be

elevated in many other similar

abnormalities , therefore, further

testing is recommended.

Dr/HN/14

Spina Bifida

AFP : (cont..)

Amniocentesis is offered to

mothers with increased risk of

having babies with a birth defect,

(previous spina bifida, or taking

drugs for siezures, or over 35

years of age or positive family

history) .

Dr/HN/15

Spina Bifida

USS Scan :

Uss at 18-20 weeks of gestation will show the defect in the spinal bones and certain changes in the brain in 90% on NTD cases.

Dr/HN/16

Spina Bifida


Neural abnormalities are uncommon

The bony diffect is of no clinical

significance,

Few patients may develop progressive

neurological signs during spurt growth

which occurs most often between 8 and

14 years of age.

Lipoma

Dr/HN/17

Spina Bifida

Spina Bifida Occulta : (cont...)

Progressive deformity of the feet or

changes in micturation are very

suggestive and myelography is indicated

when these occur,

In case of objective neurological signs or

myelographic evidence of cord or root

displacement ,patient should be

explored.

Local lesion removal for cosmetic reason Dr/HN/18

Spina Bifida

Spina Bifida Occulta : (cont..)

Dermal sinus ;

Should be completely excised before infection supervenes to remove the risk of meningitis when the track happens to communicate with or is in close proximity to the subarachnoid space. If already inf-ected, the sinus should be excised after the antibiotic infection control

Dr/HN/19

Spina Bifida

Split Notochord Syndrome :

Occasionally , embryos develop

with partial duplication of

notochord, yolk sac herniates

between them,

Diastematomyelia is due to fusion

of the medial pedicles of a pair of

hemi-vertevrae to form a bony spur

which lies between the split halves

of spinal cord. Dr/HN/20

Spina Bifida

Vesicointestinal fissure, or extrophy

of the cloaca is usually associated

with a myelomeningocele and is a

severe variation of the split

notochord syndrome.

Split notochord with yolk sac hernia,

Split notochord with yolk sac fistula,

Split notochord with gut fistula,

Split notochord with

diastematomyelia Dr/HN/21

Spina Bifida

Different

variants of

split

notochord

Dr/HN/22

Spina Bifida

Spina Bifida Cystica :

Meningocele;

About 5-6% of SB cystica,

A failure of the vertebral arch to form and a protrusion of the meninges through the gap to form a simple meningeal sac lined by arachnoid membrane and dura containing CSF and only occasionally nerve tissue.

Dr/HN/23

Spina Bifida

Meningocele

Spina Bifida Cystica

Dr/HN/24

Spina Bifida

Menigocele : (cont..)

A cystic swelling with a cover which

may vary from a thin translucent

membrane to normal skin,

In the great majority the cord is

normally formed and there is

neurological defect, but each case

must be watched with care because

of associated spinal cord dysplasia.

Dr/HN/25

Spina Bifida

Meningocele : (cont..)

The cyst may be large to several

inches in diameter while the neck

is often narrow,

The cyst may be tense, specially if

the baby is crying or when

pressure is applied to the

fontanelle, otherwise soft and

fluctuant,

Dr/HN/26

Spina Bifida


The skin over the sac is generally

intact, but it is occasionally

ulcerated, which is, however , more

typical of myelomeningocele,

A lipoma round the base of the sac

may give the false impresion of a

wide base,

Radiology will show that the inter-

peduncular gap is not so extensive. Dr/HN/27

Spina Bifida


Hdrocephalus is rare,

Normal mental state,

Usually, no neurol. abnormalities.

If the skin is intact no urgency ,

The repair can be done at any

convinient time during infancy.

Dr/HN/28

Spina Bifida


If the sac is ulcerated it should be repaired immediately after birth, before significant infection supervenes,

But if this opportunity is missed epithelium should be allowed to cover the sac, which is then excised at a convenient time later in infancy.

Dr/HN/29

Spina Bifida

SB Cystica :

Myelomeningocele;

94% of spina bifida cystica ,

The most serious variety,

Consists of a bifid spine with protrusion and dysplasia of the meninges and spinal cord and is always acoompanied by neurological signs

Dr/HN/30

Spina Bifda

Myelomeningocele : (cont..)

The spinal cord remains exposed and the surface (neural plague), looks like granulation tissue,

At the upper end the central canal may be recognized as a fistula discharging cerebro- spinal- fluid (CSF).

Dr/HN/31

Spina Bifida


This tissue is surrounded by a thin

translucent membrane

representing the meninges

(arachnoid membrane with nervous

tissue visible on the surface known

as , neural plague), and

circumferentially an area of ill-

formed skin is almost always

present. Dr/HN/32

Spina Bifida


The base of the lesion is broad and

the separated bony pedicles of the

spine can be felt on both sides,

The extent of the paralysis does

not necessarily relate accurately to

the level of the lesion because

dysplasia in the spinal cord may be

more extensive than the overt

lesion . Dr/HN/33

Spina Bifida


The commonest forms in the lumbar region but can occur anywhere along the neuroaxis including the brain itself (encephalocele) ,

Even grosser forms may occur in which the entire cord lies open, un- tubed on the surface.

These babies are usually stillborn with other multiple congenital anomalies.

Dr/HN/34

Spina Bifida

Myleomeningocele : (cont..)

Motor loss ;

There is a flaccid paralysis of the lower motor neuron type .

The extent depending on the level of the neurological lesion,

Upper neuron paralysis is rare and present in few cases of hydrocephalus or meningitis.

D/HN/35

Spina Bifida

Myelomeningocele: (cot..)

Motor Loss ;

The motor loss can be assessed by observing the infant’s voluntary (not reflex) movements and the determination of the level is helpful in assessing the probable extent of the ultimate disability.

Dr/HN/36

Spina Bifida

Myleomeningocele : Motor Loss ;

Grouping according to lesion level,

(some overlap is inevitable),

Group I –Cervical & upper thoracic

Group II--Lower thoracic,

Group III-Upper Lumbar;

Group IV-Lower lumbar & up. sacral

Group V--Lower Sacral Dr/HN/37

Spina Bifida

Myelomeningocele : Motor Loss ;

Group I : ( < 1% ),

Small group with extensive paralysis

of the lower extrimities,

Paralysis of variable proportion of the

trunck and upper extrimities,

Spastic paralysis of legs in children

with normal sp.cord below lision level Dr/HN/38

Spina Bifida


Group II : ( 27 % ),

Complete paraplegia of the legs ,

Some paralysis of the lower trunck,

Pralysis of the psoas major muscle

Dr/HN/39

Spina Bifida


Group III : ( 23 % ) ,

The psoas major muscle is active and its actions are unopposed resulting in flexion contractures of the hip,

The adductors and extensors of the hip are paralyzed and so are the muscles controlling knees, ankles and feet Dr/HN/40

Spina Bifida


Group IV : ( 45% ),

All group III muscles are active plus the power of quadriceps femurs muscle to hold the knee in full ext.

Some power in the dorsiflexors of the foot, particularly tibialis anterior,

The calf muscles are paralyzed causing talipes calcaneus. (cont..)

Dr/HN/41

Spina Bifida

Myleomenigocele : Motor Loss ;

Group IV : ( cont..)

In the lowest lesions in this group

there is some power in the

extensors and adductors of the hip

and in the flexors of the knee,

Group V : ( 4% ),

There is no orthopedic disabilities. Dr/HN/42

Spina Bifida

Myelomenigocele : Sensory Loss ;

Corresponds closely to the level of the motor loss,

Normal sensation level is usually one segment higher than the lower level of normal motor power,

Sensation loss is most important in the feet, buttocks and the perineum ( risk of pressure sores ) .

Dr/HN/43

Spina Bifida

Myelomeningocele : ( cont..)

Neurogenic Bladder ;

The sphincters and pelvic muscles are nearly always affected ,

Almost in every case the parasym- pathatic sacral roots (S2,3,4) to the viscera is lacking causing paralysis of detrusor, int. and ext. urethral musculature, pelvic floor, anal sphincters. Dr/HN/44

Spina Bifida


Clinical signs observable in the first day of life ;

An expressible bladder,

Patulous anus (open, level with the buttocks for the natal cleft is absent.

Perineal anaesthesia ,(no reaction of pain to pin pricks ).

Continuous drippling of urine . Dr/HN/45

Spina Bifida


Faecal Incontinence ;

Although present, seldom produces overt disturbances in infants ,

In todlers and elder children (no control and soiling occurs ),

Constipation masks lack of control,

Faecal impaction and often anal prolaps is common in infants & todlers Dr/HN/46

Spina Bifida


Associated anomalies;

Orthopedic deformities like

kyphosis , lordosis, scoliosis ,

Paralytic dyslocation of hips,

flexion contracture of the hips and

knees and,

Talipes, Dr/HN/47

Spina Bifida


Anomalies of the renal tract include;

Neurogenic bladder,

VUR, with or without megaureters,

The kidney may be dysplastic, cystic or duplicated,

Less common like ectopia vesica, hypospadias, urethra diverticulum or multiple vesical sacculations.

Dr/HN/48

Spina Bifida


Complications ;

Meningitis from infection of ulcerated sac specially if ruptured or after repair, and acounts for 1/3 of all deaths from spina bifida cystica,

Pressure sores on feet , sacral and perineal areas,

UTI ,(stasis in neurogenic bladder), Dr/HN/49

Spina Bifida


Complications ; ( cont..)

Mental retardation , related to the presence of hydrocephalus, ( in 77% intelligence is normal, 21% retarded but educable, 2% grossly retarded ),

Paralytic squint ( hydrocephalus), optic atrophy (blidness), deafness .

Dr/HN/50

Spina Bifida


Assessment :

The type , level , size of spina bifida

and state of the sac (intact,

ruptured)

The persence of hydrocephalus,

The presence of meningitis,

Level of orthopedic disability,

Urinary tract abnormalities or UTI. Dr/HN/51

Spina Bifida


Assessment ;

The presence of other congenital

anomalies,

The family,

All the above points and the

predicted disabilities should be fully

discussed and explained to

parents.

Dr/HN/52

Spina Bifida


Investigations :

Routine lab. Investigations, swabs,

AP and Lateral views of vertebral

column including the pelvis.

Brain and abdominal USS,

CSF ( during surgery ) .

Dr/HN/53

Spina Bifida

Myelomeningocele : ( cont…)

Treatment :

The aim of treatment is to produce

an ambulent , dry , free of smell of

urine and feaces , functioning to

the best of his itellectual and

physical potential ,educable and

capable of employment and

independent living . Dr/HN/54

Spina Bifida


Early operation reduces the incidence of meningitis , shortens the hospital stay, relieves the parents from long term dressings, encourages acceptance of the baby by the parents,

Early repair of the sac has no influ- ence on the development of hydrocephalus or neurological disabilities. Dr/HN/55

Spina Bifida

Myelo-

Meningocele

repair

Dr/HN/56

Spina Bifida

Thoraco-lumbar

myelomeningo-

cele Repair

Dr/HN/57

Spina Bifida


Treatment at birth (immediate repair)

Group IV and V ,

Active treatment is given for all subsequent problems e.g. shunting of hydrocephalus, urologic , orthopedic etc.

Because of adverse factors further treatment is differed.

Dr/HN/58

Spina Bifida

Lumbosacral

myelomeningo-

cele Repair

Dr/HN/59

Spina Bifida

Although the spinal opening is surgically

repaired shortly after birth, the nerve

damage is permanent. This results in

varying degrees of paralysis of the lower

limbs, depending largely on the location

and severity of the lesion. Even with no

lesion there may be improperly formed or

missing vertebrae , and accompanying

nerve damage. There is no cure for

either of these conditions as nerve tissue

cannot be replaced or repaired. Dr/HN/60

Spina Bifida

In addition to the physical and mobility

difficulties , most individuals with SB or

hydrocephalus will have some form of

learning disability. This means that they

are likely to have learning problems in

school, in spite of having average or

above average intelligence.

Other conditions found in some SB

patients are Chiari Malformation and

Tethered Cord Syndrome .

Dr/HN/61

Spina Bifida

Treatment for the variety of effects

of SB includes surgery, medication

physiotherapy, and the use of

assistive devices. Many will need

support to walk such as braces,

splints, crutches. Many will need

wheel chairs, and almost all will

have some form of bladder and

bowel dysfunction. Dr/HN/62

Spina Bifida

These are conditions they outgrow. They

learn to control and live with them,

Ongoing therapy, medical care, and/or

surgical treatments will be necessary to

prevent and manage complications

throughout an individual’s life,

Research is greatly needed to develop

better methods of meeting the

challenges and complications posed by

spina bifida. Dr/HN/63

Spina Bifida

How can SB be prevented ?

Research indicates that addition of the b-vitamin, folic acid, to the diet of women of children bearing age may significantly reduce the incidence NTDs such as SB.

Because NTD occurs before a woman is likely to know she is pregnant, all women capable of becoming pregnant should consume 0.4mg of folic acid daily, especially those with previous NTD affected pregnancy or a close family history of NTDs.

Dr/HN/64

Spina Bifida

Allow the individual to reach his or her potential, however, the co- operation of society , and the co- ordiation of services – medical, nursing , social, educational and community – is vital,

Education materials to parents, families, and individuals with SB or hydrocephalus as well as to educa- tors, care givers, other professionals.

Dr/HN/65

spina bifida - dr hasan nugud bifida.pdf · · 2015-04-23spina bifida spina bifida occulta : ......

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