ABDOMINAL WALL DEFECT

Akhmad Makhmudi

Types of Congenital Disorders

There are three major types of congenital disorders: Congenital physical anomalies Inborn errors of metabolism

Other genetic disorders

Congenital anomalies result in :

high mortality morbidity human suffering and costly health services

Dysmorphologists Three Major Categories

1. Malformations- defect intrinsic gen: polysyndactylygregcephalo 2. Deformations- defect extrinsic physic: arthrogryposes 3. Disruptions - Insufficiency vascular: Gastroschisis

ETIOLOGY

Fetal abdominal wall defects form as a result of disturbances in organogenesis during the embryonic period. (See "Prenatal sonographic diagnosis of fetal abdominal wall defects", section on 'Embryology'.) There are three theories on the etiology of omphalocele formation [5]: Persistence of the primitive body stalk Failure of the bowel to return to the abdomen Failure of complete lateral-body fold migration and body wall closure

PRENATAL GROWTH

THE PREEMBRYONIC PERIODE FERTILISASI OVUM EMBRYONIC PLATE (THREE LAYER GERMINAL): 1 3 WEEKS NOTOCHORD, NEURAL TUBE, NEURAL CREST, SOMITE, INTRAEMBRYONIC COELUM, PRIMITIVE BLOOD AND VESSEL THE EMBRYONIC PERIOD DIFFERENTATION ORGAN : ( 3 8 WEEKS ) CRITICAL PERIOD MAJOR CONGENITAL MALFORMATION THE FETAL PERIODE ORGAN SYSTEM : ( 8 WEEKS - IN BORN ) PRIMITIVE GUT(FOREGUT,MIDGUT, HINDGUT-CLOACA) UMBILICAL CORD :CONNECTING STALK, YOLK STALK, ALLANTOIS COVERED BY AMNION, DUCTUS OMPHALOMESENTERICUS (YOLK STALK)

Zygote Embryoblast Endoderm M Axialis Mesoderm Trophoblast Ectoderm M Lateralis Somaticus

M Intermediate Splanchnicus

Visceral organs of digestive system

(Intraembryonic coelom) Pleural & peritoneal Cavity

The embryonic period or period of organogenesis, when each of three germ layers, ectoderm, mesoderm, and endoderm, gives rise to anumber of specific tissue and organs. The main organs systems have been establish.

Derivat of the ectoderm germ layer: a.Central nervus system b.Peripheral nervus system c.Sensory epithelium of ear,nose,and eye d.Skin,hair,and nail e.Pituitary,mammary, and sweet gland ,and enamel

Derivate of th mesoderm germ layers

Derivate of th mesoderm germ layers

This folding is circumferential (Fig. 3), but four folds may be distinguished as follows (Wolff, 1948). (1) A cephalic fold whose splanchnic layer containing the outline of the heart and the large blood vessels will close the foregut in front. Its somatic layer will form the thoracic and epigastric wall aswell as the septum transversum (Fig. 2C and D). (2) A caudal fold, whose splanchnic layer will close the hindgut, in front, and the somatic layer including the allantois, which is the forerunner of the urinary bladder which will form the hypogastricwall (Fig. 2D). (3 and 4) Lateral folds which close the midgut and form the lateral walls of the abdomen (Fig. ID).

THE LATERALLY FOLDING

1. Yolk sac 2. Surface ectoderm 3. Amniotic cavity 4. Neural tube 5. Splanchnic mesoderm 6. Somatic mesoderm

1. Gut endoderm 2. Intraembryonic coelomic cavity 3. Amniotic cavity 4. Dorsal mesentery 5. Splanchnic mesoderm 6. Somatic mesoderm 7. Neural tube

CELOSOMIAS
The inhibition of the morphogenetic process ofthe closing of the body of the embryo causes a series of malformations called celosomias 1. The failure of formation of the cephalic fold - Early failure of formation of the somaticlayer of the cephalic fold causes an upper celosomia - Late inhibition of this process will prevent the septum transversum 2. The Failure of formation of the two layers - leads to a lower celosomiae of the formation of the caudal fold 3. Failure of formation of the lateral folds - prevents the body fromclosing completely, and the umbilical orifice remains widely open thus causing a middle celosomia, inother words, an exomphalos

30 PERSONAL CASES OF EXOMPHALOS

No. of cases

Exomphalos Upper celosomia

-Exomphalos, defect of sternum, diaphragm,pericardium and heart . -Upper celosomia Exomphalos, diaphragmatic hernia and ectopia cordis abdominalis -Exomphalos and diaphragmatic hernia

0 2 2 24

Middle celosomia: Exomphalos alone Lower celosomia:

-Exomphalos and bladder exstrophy -Exomphalos hindgut agenesis, vesicointestinal fissure and bladder exstrophy

1 1

TWO DISTINCT TYPE OF MAJOR ANTERIOR ABDOMINAL WALL DEFECT

GASTROSCHISIS 1 in 2,000live births Incidence in Western World (reasons not known) Cocaine/recreational drug use Associated with teenager mothers No real associations Intestinal atresia complication OMPHALOCELE 1 in 5,000 live birth ( fetal diagnosis) Static incidence

Associated anomalies chromosom anomalies (e.g. trisomies 13,18,21) Beckwith-Wiedemann syndrome ( somatic growth, islet cell hyperplasia /hypoglycemia, macroglossia, and risk of neoplasia: e.g.Wilms, hepatoblastoma)

Congenital Deffects of the Abdominal Wall

Omphalocele :failure return midgut into intraabdominal covered by amnion avascular and warthon yelly Gastroschisis : herniasi/protusion midgut due defect right paraumbilical diameter 4cm

CONGENITAL DISORDERS SYNDROME

UPPER MID LINE/ THORACOABDOMINAL SYNDROME/ PENTALOGY OF CANTRELL: OMPHALOCELE, ANTERIOR DIAPHRAGMATIC HERNIA, STERNAL CLEFT, CARDIAC ANOMALY LOWER MID LINE SYNDROME : BLADDER/ CLOACAL EXTROPHY, IMPERFORATE ANUS, COLONIC ATRESIA, VESICO INTESTINAL FISTULA, SACROVERTEBRAL ANOMALY, MENINGOMYELOCELE BECKWITH-WIEDEMANN SYNDROME, ETC.

UPPER MID LINE DEFECT

MENINGOCELE NASOORBITA LABIOGNATHO PALATOSHISIS

LOWER MID LINE DEFECT

ATRESIA ANI CLOACA EXTROPHY

Fundamental Mechanism Operating in Development

Gene regulation by transcription factor Cell-cell signaling by direct contact and by morphogen Induction of cell shape and polarity Cell movement Programmed cell death

SIGNALING TRANSDUCTION CELL

There are four major classes of surface receptors: (1) Ion Channel Linked Receptor (2) Enzyme Linked Receptor (3) G-Protein Coupled Receptor (4)Tyrosine Kinase-Linked Receptor

Gene regulation by transcription factor

Struktur gen

Transkripsi-post transkripsi, translasi-post translasi

Sintesis Protein
Transkripsi Translasi Jalur biokimia ------- mRNA ...........> Protein --------- Fenotipe DNA ------------ tRNA ------------ rRNA

Sentral dogma sintesa protein DNARNAPROTEIN

Informasi genetik pembentukan protein

Prevention of Neural Tube Defect

Dietary Suplementation with 400 to 800 ug perday Folic Acid 1 month before conception and continuing for 2 month after conception

OMPHALOCELE (EXOMPHALOS)

EMBRYOLOGY

At about 8weeks gestation, the enlarging liver causes the displacement of other viscera outside the umbilical ring, to return by 10 weeks. Failure to do this results in exomphalos, covered with amniotic sac and Whartons jelly with insertionof the cord at its apex

TYPES

Hernia of the umbilical cord Small defect and sac may contain few loop of intestine Exomphalos minor defect<5cm Exomphalos mayor defect>5cm, and predominantly contains liver

MIDGUT

The wide communication of the midgut and the yolk sac is gradually reduced to the narrow yolk stalk (vitelline duct). Rapid elongation of the midgut and its mesentery results in the formation of the midgut loop which projects into the umbilical cord (physiological umbilical herniation). The cephalic limb of the loop develops into the duodenum, jejunum and part of the ileum, while the caudal limb gives rise to the rest of the midgut derivatives. The midgut loop rotates 270 counterclockwise around the axis formed by the superior mesenteric artery.

MIDGUT LOOP
The midgut loop rotates 270 counterclockwise around the axis formed by the superior mesenteric artery. Cranial distal duodenum, jejunum, ileum Caudal ileum, cecum, colon ascenden, 2/3 colon transversum

1. 2. 3. 4. 5. 6.

1. Vitelline duct 2. Superior mesenteric artery Vitelline duct Superior mesenteric artery 3. Stomach 4. Duodenum Stomach 5. Transverse colon Duodenum Cephalic limb of the loop 6. Small intestine 7. Cecal bud Caudal limb of the loop

1. 2. 3. 4. 5. 6.

Vitelline duct Small intestine Stomach Duodenum Transverse colon Cecal bud

1. Hepatic flexture 2. Stomach 3. Duodenum 4. Transverse colon 5. Ascending colon 6. Descending colon 7. Sigmoid 8. Cecum 9. Appendix 10. Small Intestine

CLINICAL FEATURES

Antenatal (80%) confirmation is possible from 12 weeks gestation. Chorionic villous sampling or amniocentesis to establish presence of chromosomal anomalies and/or other significant anomalies by fetal echocardiography etc. Third trisemester US should evaluate the safest mode of delivery (Csection is indicated for major exomphalos avoid sac rupture, and obstructed labor) A high rate of spontaneous intrauterine death, partiicularly if the multiple anomalies

MANAGEMENT

For infants with an intact sac who are small Preterm (<32/40), or who have other significant anomalies then conservative sac management may be preferred. This involves epithelization encouraged by various topical agents (e.g.silver nitrate, silversulfathiazine

Fascial closure is performed at some later date (2-3years), although the problem of viscero-abdominal disproportion still remains

MANAGEMENT

There are a number of surgical options Elective primary fascial closure- for exomphalos minor and most cases of exomphalos major

Stages closure (silo) where primary closure not possible, but reasonable-sized infant -Initial aplication of custom silo ( removal of sac) -Delayed fascial (prosthetic path) closure and skin closure (7-10 days)

GASTROSCHISIS

INTRODUCTION

Definition: Gastroschisis (GS) is a congenital disruptions characterized by herniations of intraabdominal organs caused by paraumbilical defect of abdominal wall and not covered by a amniotic membrane (Ashcraft et al., 2000., Khan et al., 2006) Incidence: 1,6 : 10.000
ABDOMINOSCHIZIS, LAPARO SCHIZIS, PARAOMPHALOCELE (SHILPI C, 2006)

INTRODUCTION (BACK GROUND)

Gastroschisis (GS) is a congenital disruptions characterized by herniations of intraabdominal organs caused by paraumbilical defect of abdominal wall and not covered by amniotic membrane (Ashcraft et al., 2000., Khan et al., 2006) Prevalence : An increasing trend of GS has been observed in some different area involved in ICBDMS USA : 2,5 per 10,000 births Japan : 0.13 1975-1980 0.27 1981-1985 0.34 1986-1990 0.46 1991-1995 0.47 1996-1997 Indonesia : unknown data (Suita et al., Eggink et al., 2006, Khan
et al., 2006)

Four main controversial embryologic hypotheses gastroschisis

(1)Failure of mesoderm to form in the body wall (2)Rupture of the amnion around the umbilical ring with subsequent herniation of bowell (3)Abnormal involution of the right umbilical vein leading to weakening of the body wall and gut herniation (4)Disruption of the right vitelline (yolk sac) artery with subsequent body wall damage and gut herniation.

Etiology

Multifactorial Genetic: Polimorfisme gen predisposisi gastrosisis dengan timbulnya defek paraumbilikal bayi lahir gastrosisis: a) Polimorfisme C677T 5,10-Metilentetrahidrofolat reduktase b) Polimorfisme G20210A protrombin c) Polimorfisme G506A faktor V Leiden d) Polimorfisme A1408G ICAM-1 e) Polimorfisme G894T NOS3

Teori
Gastrosisis
Protrombin, Faktor V Leiden

MTHFR NOS3

ICAM-1

Tromboemboli

Defek gangguan fusi Juxta basis tali pusat Paraumbilikal kanan Matriks Ekstra Seluler

Membrane sel rusak, Apoptosis&nekrosis

Morfogenesis iskemik arteri omfalomesenterika inferior

Abnormal involusi vena Umbilikalis kanan

EMBRYOLOGY

The defect is disputed and appears to be a right-sided defect appearing by a normally iinserted umbilicus Even the timing is unclear although most are obvious from about 14 weeks gestation. Prolaps of uncovered viscera occurs

CLINICAL FEATURE

Antenatal detection is possible from - 14 weeks gestation and most normally picked up at the fetal anomaly scan at 18 20 weeks gestation. The main risk to the fetus at this stage is the possiblility of closed gstroschisis (i.e. closure of ring around prolapsed midgut) as this lead to complete loss of the midgut, or at the very least entry and exit intestinal atresia Most cases can be delivered vaginally without undue harm to the gut. There is no benefit from too early delivery but most fetal medicine center suggest planned delivery at 38 weeks

MANAGEMENT

First aid Cover exposed bowel loops with cling-film. Ensure no twist in midgut and consider if ring may be too tight Surgery There are then a number of surgical options -Primary fascial closure (60%) selected on basis of attemp under GA -Staged closure (silo) a. Delayed fascial (prosthetic path) closure and skin closure (7-10 days) b. Preformed silo outside application in all infants. No anesthesia -Delayed fascial (prosthetic patch) closure and skin closure (2-10 days) - incidence of compartement syndrome - Final sutureless clossure possible without GA, using intact umbilical cord

COMPLICATION

Abdominal wall integrity is not usually a problem after the first 2 weeks, however, the acquisition of intestinal peristalsis is prolonged and parenteral nutrition is invariable Avarage time to full enteral nutrition 25 weeks. risk of NEC (usually benign rather than necrotizing) Intestinal atresia Prolonged(>3months) dysmotility decreased transit time from small to large bowel consider distal ileostomy as solution to chronic pseudo-obstruction

OUTCOME

>95% survival in recent series Death usually due to midgut infarction and prolonged PNinduce liver disease

TERAPI KONSERVATIF-REDUKSI

BLADDER CLOACAL EXSTROPHY

Definisi

Terjadi karena bagian anterior kandung kemih dan atau uretra kekurangan struktur dinding perut. Pelvis meluas

Epidemiologi Kejadian 1/10.000 sampai 1/50.000 kelahiran hidup Laki-laki:perempuan (6:1)

Embriologi
Pertumbuhan mesoderm tidak sempurna Pertumbuhan jaringan mesenkimal abnormal antara ektodermal dan endodermal

Menghambat migrasi medial

Ruptur prematur(otot abdomen bagian bawah dan pelvis) tidak terbentuk

Diagnosis

USG prenatal, sebelum minggu ke 20 kehamilan Gambaran USG:

sebuah massa semi padat menonjol dari dinding perut tidak adanya kandung kemih sebuah tonjolan perut bagian bawah sebuah skrotum anterior dengan phallus kecil tonjolan iliaka luas abnormal

Gambaran ekstrofi bladder

Kelainan anatomi

Defek tulang pelvis

Kelainan anatomi cont......

Defek musculus pelvis fungsi muskulus dasar pelvis: - menahan kandung kemih dan uterus -kontinensia urin dan feses -mencegah prolaps organ Defek dinding abdomen ruptur prematur dari membran kloaka abnormal

Perawatan pre operasi

Tali pusat diikat dengan benang silk Gel terhidrasi untuk melindungi kandung kemih Ditutup dengan plastik, dijaga selalu lembab dgn normal saline Antibiotik intravena

Prinsip rekonstruksi

Tahapan penutupan fungsional

1. 2. 3.

Penutupan kandung kemih berlapis(stent uretra) Osteotomi pelvis Perawatan post operasi a. Spica cast b. Analgesik epidural c.stent ureter (dilepas setelah 2 minggu), kateter uretra ( dilepas 3 minggu) d. Antibiotik

Tahapan penutupan fungsional cont.....

Repair epispadia dengan uretroplasty (12-18 bulan) Rekonstruksi leher kandung kemih (4 tahun)

Complete Primary Repair Exstrophy

72 jam pertama kehidupan Tanpa osteotomi (tulang panggul masih lentur) Kandung kemih, leher kandung kemih dan uretra posterior dipindahkan dalam panggul Pencapaian kontinensia urin

Complete Primary Repair Exstrophy cont......

Gbr. Skematik penutupan kandung kemih dan posterior uretra, dinding anterior abdomen didiseksi, A.insisi awal mengelilingi dasar kandung kemih,B. Insisi mengikuti kandung kemih,termasuk umbilikus,C.diseksi lateral kandung kemih dari dinding abdomen

Complete Primary Repair Exstrophy cont......

Gbr. Diseksi dari crura dan simphisis pubis

Complete Primary Repair Exstrophy cont......

Gbr. F. Penutupan kandung kemih,meatus uretra dikalibrasi 14F,G. Aproksimasi pubis dengan nylon no 2 continous.

Repair epispadia

Kapasitas kandung kemih meningkat sampai 55 ml dalam 22 bulan Sebelumnya distimulasi terapi testosteron (2 mg selama 5 minggu) 4 hal yang perlu diperhatikan: - koreksi chordee dorsal - rekonstruksi uretra -penutupan kulit penis -rekonstruksi glandular

Repair epispadia cont.....

Gbr. Modifikasi CantwellRansley,A.garis insisi awal mengelilingi urethral plate dan sulcus koronarius.B.diseksi foreskin pada aspek ventral penis

Repair epispadia cont........

Gbr.Pada corpora didiseksi di uretral plate, dan insisi paralel dibuat ke glans untuk membuat sayap glans, dengan catatan diposisi lateral dari neurovascular bundles(NVB), D.uretra dibuat tubular dengan menggunakan jahitan continous

Repair epispadia cont........

Gbr. E. Corpora diaproksimasi keatas uretra untuk membentuk lokasi ventral anatomi dari uretra, glans direkonstruksi dua lapis. F. Jahitan ditempatkan pada dasar penis sampai lokasi foreskin pada shaft penis, foreskin tampak pada sulcus coronal.

Komplikasi
Dehisensi kandung kemih: komplit atau parsial Prolaps kandung kemih Deteriorasi traktus urinarius atas oleh karena refluks vesicoureter Pengosongan inkomplit kandung kemih Masalah jangka panjang setelah pembedahan: Inkontinensi urin persisten dan VUR Infeksi traktus urinarius berulang dan urolithiasis Disfungsi seksual Keganasan (jarang)

Hasil

Kontinensi rata-rata 30-80% , dipengaruhi -penutupan awal yang berhasil -rekonstruksi leher kandung kemih - pengalaman ahli bedah

KESIMPULAN Defek anatomi saluran kemih bawah dapat mempengaruhi fungsi organ lainnya, meskipun telah dilakukan bedah korektif, masalah ke depan antara lain fungsi berkemih, fertilitas, mikropenis, dan risiko keganasan testis karena testis letak tinggi/intraabdomen. Menurunkan risiko dan gangguan ginjal dimasa datang

ANTERIOR DIPHRAGMATIC HERNIA

HERNIA DIAPHRAGMATICA

KEGAGALAN MEMBRAN PLEUROPERITONEAL UNTUK MENUTUP SALURAN PERICARDIOPERITONEAL HERNIA BOCHDALEC HERNIA MORGAGNI

Hernia diafragmatica

HERNIA DIAPHRAGMATICA

The diaphragam develops from four components: a. septum transversum (central tendon) b.pleuroperitoneal membranes c.dorsal mesentery of the esophagus, and d.muscular componens of the body wall Congenital diphragmatic hernias involving defect of the pleuroperitoneal membrane on the left side ossur frequently (hernia bochdalec)

HERNIA DIAPHRAGMATICA

MALFORMASI HINDGUT

ANORECTAL MALFORMATION

ANORECTAL MALFORMATION
(A). Stephen . High . Intermediet . Low (B). Wingspread . High . Intermediet . Low (C). Pena .High .Low PC Line

I Line

1cm anal verge

Invertogram: X RAS *PC(Pubococygeal Line) *I Line(Ischidicus major line) Tx/ PSARP ( POSTERO SAGITAL ANORECTO PLASTy )

ATRESIA ANI
CLASSIFICATION: A.WINGSPREAD: I (ISCHII) LINE PC (PUBOCOCCYGEUS) : HIGH, INTERMEDIATE AND LOW ANORECTO MALFORMATION B.KRICKENBERCK INTERNATIONALCLASSIFICATION MAY 2005, GERMANY: MAJOR CLINICAL GROUPS BASED ON THE FISTULA LOCATION (PERINEAL, RECTOURETHRAL,RECTOVESICAL, VESTIBULAR), CLOACAL LESION, THOSE WITH NO FISTULA AND ANAL STENOSIS, RARE VARIANT: POUCH COLON, RECTAL ATRESIA OR STENOSIS, RECTOVAGINAL FISTULA, H-FISTULA AND OTHER. C.PENA: PSARP (POSTERO SAGITAL ANORECTOPLASTY)

INVERTICOGRAM

3 JUNI 2009