4. Kuliah Klarif Kelainan Kongenital Mayor

8/17/2019 4. Kuliah Klarif Kelainan Kongenital Mayor

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Kelainan Kongenital Mayor

Kuliah Klarifikasi


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1. SPINA BIFIDA

Failure of fusion of the vertebral arches.

This mesodermal defect may be associated with adefect of ectoderm and neuroectoderm.


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Spina Bifida

Incidence 2 – 2.5 / 1,000 births

enetic !redis"osition

10# incidence of "ositive family histories

5# incidence of $"ina %i&da / 'nce"halocele

in siblin( of an a)ected child

10*15# incidence if two siblin(s a)ected


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Causes & Risk factors

Causes Risk factors

• + o c t o r s a r e n t c e r t a i n

• - o m b i n a t i o n o f ( e n e t i c a n d e n v i r o n m e n t a l r i s f a c t o r s

• F a m i l y h i s t o r y o f n e u r a l t u b e d e f e c t s a n d f o l i c a c i d d e & c i e n c y

ace his"anics, whites

$e (irls boys

Family history

Folate de&ciency edication

+iabetes

3besity

Increased body tem"


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Types of spina bidaSpina BidaSymptoms

1. s"ina bi&daocculta

2. s"ina bi&dacystica enin(ocele

yelomenin(ocele

sym"toms are caused by com"licationsof s"ina bi&da

!eo"le with s"ina bi&da

occulta are almostalways com"letelyasym"tomatic


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The most common complications

4arious de(rees of le( "aralysis, s"inecurvature scoliosis6, hi", foot, and le(deformities, and "roblems with bowel andbladder control

Infection in the tissues surroundin( thebrain menin(itis6.

7ydroce"halus

3besity due to inactivity6 and urinary tractdisorders due to "oor draina(e6

rowth hormone de&ciency resultin( inshort stature

8lthou(h most "eo"le with s"ina bi&da

http://www.emedicinehealth.com/scoliosis/article_em.htmhttp://www.emedicinehealth.com/obesity/article_em.htmhttp://www.emedicinehealth.com/growth_hormone_deficiency/article_em.htmhttp://www.emedicinehealth.com/short_stature_in_children/article_em.htmhttp://www.emedicinehealth.com/short_stature_in_children/article_em.htmhttp://www.emedicinehealth.com/growth_hormone_deficiency/article_em.htmhttp://www.emedicinehealth.com/obesity/article_em.htmhttp://www.emedicinehealth.com/scoliosis/article_em.htm


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Management

• T h e r e i s n o c u r e f o r s " i n a b i & d a

• 8 c h i e v e t h e h i ( h e s t " o s s i b l e l e v e l o f f u n c t i o n a n d i n d e " e n d e n c e

• T r e a t m e n t s h o u l d a d d r e s s a n y d i s a b i l i t y , " h y s i c a l , e m o t i o n a l , o r e d u c a t i o n a l , t h a t

i n t e r f e r e s w i t h t h a t " e r s o n 9 s " o t e n t i a l


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Peran bidan

• :00 icro(ramfolic acid daily

• -ontinue for 1st

three months of"re(nancy

%umil

• +etesi dini

• !erawatan ;cele9• u


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Hidrosefalus

7ydroce"halus is the buildu" of >uid in the cavities

ventricles6 dee" within the brain


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Hydrocephalus

-erebros"inal >uid normally >ows throu(h theventricles and bathes the brain and s"inalcolumn

The "ressure of too much cerebros"inal >uid

associated with hydroce"halus can damagebrain tissues and cause a lar(e s"ectrum ofimpairments in brain function

7ydroce"halus is caused by an imbalance

between how much cerebros"inal >uid is"roduced and how much is absorbed into thebloodstream.


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Excess cerebrospinal fluid in the ventriclesoccurs for one of the following reasons

O b s t r u c t i o n • T h e m o s t c o m m o n " r o b l e m i s a " a r t i a l

o b s t r u c t i o n o f t h e n o r m a l > o w o f c e r e b r o s " i n a l > u i d

P o o r a b s o r p t i o

n • 3 f t e n r e l a t e d t o i n > a m m a t i o n o f b r a i n t i s s u e f r o m d i s e a s e o r i n


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Risk factors in newborns

8bnormaldevelo"ment of the

-=$

%leedin(within theventricles

"remature6

Infection in

the uterusdurin( a

"re(nancy


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Symptoms in infants

Changes in the head Physical symptoms

8n unusually lar(e head

8 ra"id increase in the si?e of the head

8 bul(in( or tense soft s"ot fontanel6on the to" of the head

4omitin(

$lee"iness

Irritability

!oor feedin( $ei?ures

'yes &ed downward sunsettin( of the

eyes6

+e&cits in muscle tone and stren(th,res"onsiveness to touch, and e"ected

(rowth


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Penatalaksanaan

Umum

!en(awasan suhu atau "ence(ahan

hi"otermi.

!ence(ahan infesi.

3bservasi ativitas,reasi dan

ran(san(an,serta adanya dilatasi "u"ilstrabismus.

Intae*out"ut.

!erawatan sehabis %8@ dan %8%.

husus

!en(uuran lin(ar e"ala, catat danbuat (ra&nya

!en(awasan dan "ence(ahan muntah

!en(awasan e


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Peran bidan

!enatalasa

naan umum

!enatalasa

naan husus

u


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Gastroschizis & Omphalocele

Intestines herniate throu(h the abdominal wall


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(astroschisis om"halocele


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Omphalocele

!astroschisis

"ncidence

Covering

Sac

#ascial$efect

Cord%ttach&

'()*+++,'+*+++

Present -may be

ruptured.

Small to large

Umbilical the sac

'(/+*+++,0+*+++

%bsent

Small -vascularcompromise.

%bd 1all


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Omphalocele Gastroschisis

HerniatedBowel

Other organs

IUGR

NEC

Protected

Liver often in sac

Less common

If sac is rptred

Edematos andmatted

Remain in a!d"

Common

#$ %


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How will &o manage this'


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Delivery Room Management:Gastroschisis

8%-9s of resuscitation Barm, saline*soaed la" s"on(es, "lastic

wra" or bowel ba( to cover theintestines

+ecom"ression of the bowel 8$8!

8void volvulus of the mesenteric vessels

8void tearin( bowel mesentery or

causin( unnecessary dama(e to bowel emember im"ortance of

thermore(ulation and controllin( >uidlosses


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Anus imperforata

the o"enin( to the anus is missin( or bloced.


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Macam letak

T i n ( ( i • r e t u m b e r a h i r d i a t a s m . C e v a t o r a n i ,


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Gejala

obstrusiusus

a"ertura anal*6

eoniumeluar dari

suatu ori&sium

abnormal

untah Dabdomen

embun(

@esuaran

defeasi


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Manajemen

@olostomidisesi "osterosa(ital atau

"lasti anoretal"osterosa(ital


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Peran bidan

+etesidini

!emerisa

an &siscermatcolo

dubur E*6

u


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Atresia esofagus


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Manifestasi pada kelainan ini

• " r e n a t a l " o l i h i d r a m n i o n 6

• s a a t l a h i r b u s a " a d a s e t e r o r a l d i s e r t a i d e n ( a n t e r s e d a

d a n s i a n o s i s 6

• T e r d a " a t 5 t i " e a t r e s i a


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Tipe atresia esofagus


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Gejala

$alivasi dan droolin( berlebihan

Ti(a tanda utama traeoesofa(eal &stulaHbatu, terseda, sianosis

8"nea

enin(atnya distress "ernafasan setelahfeedin(

+istensi abdomen

@ebiruan "ada ulit sianosis6 etia diberimaan

%atu, (a((in(, terseda etia diberi maan

$ulit untu diberi maan


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Penatalaksanaan

Termore(ulasi

Cewatan selan( oro(astri dan lauanas"irasi antun( untu men(hindari "nemoniaas"irasi

Infus

cairan nutrisi "arenteral u


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Hirschsprung’s disease

elainan bawaan "enyebab (an((uan "asase usus,

dindin( usus yan( menyem"it tida ditemuan(an(lion "arasim"atis


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• 8 ( a n ( l i o n " l . 2 e i s s n e r d a n 8 u r b a c h d a l a m l a " i s a n d i n d i n ( u s u s

• m u l a i d a r i s " i n ( t e r a n i i n t e r n u s e a r a h " r o s i m a l

• J 0 # r e t o s i ( m o i d , 1 0 # s a m " a i s e l u r u h o l o n s e i t a r n y a , 5 #

s e l u r u h u s u s s a m " a i " i l o r u s


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Gejala

• t i n


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Komplikasi & manajemen

@ o m " l l i a s i

• ' n t e r o o l i t i s n e r o t i a n s , " n e u m a t o s i s u s u s , a b s e s " e r i o l o n ,

" e r f o r a s i d a n s e " t i e m i a

2 a n a


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Peran bidan

• eoneum *6hin((a 2:

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4. Kuliah Klarif Kelainan Kongenital Mayor