Teratologi sistem digestive dr.Adhita Dwi Aryanti.,M.Kes


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Teratologi sistem digestive dr.Adhita Dwi Aryanti.,M.Kes

  2. 2. FACIAL ABNORMALITIES • most frequent congenital anomalies (1:1000 newborns), often occurring with other anomalies. • play a role : environmental & genetic factors
  3. 3. CHEILOSCHISIS (CLEFT LIP) • disorder during the fusioning of the maxillary process with the prolabium (both globular processes of the medial nasolateral process). • can occur unilaterally or bilaterally • 1=Eye anlage 2=Ear anlage 3=Nasal sac • The arrows point to the locations of the missing epithelial bridges between the globular and maxillary processes that lead to a unilateral or bilateral cleft lip.
  4. 4. CHEILOGNATHOSCHISIS (CLEFT LIP AND JAW) • besides the soft tissue fusion disorder of the upper lip, the fusing of the lateral edges of the primary palate with the two anterior edges of the secondary palate is also disturbed. • can occur unilaterally or bilaterally.
  5. 5. CHEILOGNATHOPALATOSCHISIS (CLEFT LIP, JAW AND PALATE) • fusion disorder of the left and right portions of the secondary palatine lamina. • it is not possible for an infant to suck and thereby take in nourishment, a surgical separation between the nasal and oral cavities must be undertaken as quickly as possible. • 1=Fusion locations between maxillary and globular processes of the medial nasal lamina 2=Fusion locations between the primary and secondary palates 3=Fusion locations between the two palatal processes • In all cleft face and lip abnormalities fusion disorders occur, i.e., no epithelial bridges are formed.
  6. 6. FACIAL CLEFT • disorders that affect the whole face  seldom. • oblique facial cleft  deficient fusion of the epithelium of the lacrimonasal duct  a fissure runs from the lower lid edge to the lower edge of the nasal opening. • unilaterally or bilaterally or combined with a cleft lip-jaw-palate. • 1=Eye 2=Ear anlage 3=Nasal sac no epithelial bridges have been formed.
  7. 7. FACIAL CLEFT • middle cleft face  disorder of the bringing to the front of the nose and eyes, no flattening of the medial facial furrows occurs, e.g., between the two globular processes • comes from an inhibition of tissue proliferation in this region • 1=Eye 2=Ear anlage 3=Nasal sac
  8. 8. FACIAL CLEFT • transversal cleft face  disorder of cheek formation and a survival of the early, primitive oral fissure (macrostomia) that extends into the anlage region of the ears (between the 1st and 2nd pharyngeal arches). • 1=Eye 2=Ear anlage 3=Nasal sac
  9. 9. PATHOLOGY OF THE HEADGUT • In the region headgut  abnormalities pharyngeal arches, clefts and pouches • Connected with the pharyngeal arches are hypoplasias in the region of the first mandibular arch. Cysts and fistulas result from persisting pharyngeal pouches (among others). Ectopic glandular tissue of the thyroid, of the thymus or the parathyroids can be explained by remaining tissue residuals along their descent. • Abnormalities can also result from disorders of the migration or development of neural crest tissue in this region.
  10. 10. CERVICAL FISTULAS, CYSTS AND SINUS • This group of abnormalities derived from persisting pharyngeal pouchesor longitudinal cervical grooves. Cysts  closed cavities with an epithelial lining. Sinuses cavities that remain open towards the outside or towards the pharynx and fistulas  connections between the pharynx and outer surface of the neck. • 1=Sternocleidomastoid muscle • Frequent locations for lateral cervical cysts, sinuses and fistulas. Roman numbers  corresponding pharyngeal groove.
  11. 11. PIERRE ROBIN SYNDROME (PRS) • combines extreme micrognathia, cleft palate and abnormalities of the ears • relative macroglossia (in relation to a very small lower jaw) is present  the tongue fall backwards into the throat  air passage constrictions
  12. 12. PERSISTING THYREOGLOSSAL DUCT • Ectopic thyroid tissue can be found along descent of the thyroid gland from the foramen cecum to the isthmus of the normal thyroid below the larynx. • 1=Tongue 2=Foramen cecum 3=Epiglottis 4=Hyoid cartilage 5=Thyroid cartilage 6=Thyroid gland 7=Thyreoglossal duct
  13. 13. CATCH 22 SYNDROME • The CATCH 22 syndrome = a developmental defect of the 3rd and 4th pharyngeal pouches. • The symptoms : • hypo- or aplasia of the thymus with defective T-cells and weak immunity • hypoplasia of the parathyroid with hypocalcaemia and tetanic cramps • cardiac defects (predominately conotruncal defects) • facial dysmorphisms (hypertelorism; short lid axes; epicanthus; wide, short nose with everted nasal base levels; short philtrum; small, pointed mouth; microretrogenia; low-placed, dysmorphic ears with enlarged anteroposterior diameter).
  14. 14. CATCH 22 SYNDROME • Genetics: • Most represent sporadic but there are also families, corresponding to a dominant inheritance pattern with variable expressivity. • The main cause microdeletion 22q11 (partial monosomy 22q11) that can be detected in around 95% of the affected children. • Other chromosomal disorders or a teratogenic genesis (maternal diabetes mellitus, alcohol abuse, retinoids) have also been described. • 15 - 20% of the affected have inherited the microdeletion 22q11 from a healthy parent. This healthy deletion carrier frequently has facial microsymptoms associated with the monosomy 22q11. • Frequency: Entire population: CATCH 22 syndrome: 1/20000 Entire population: Partial monosomy 22q11: 1/5000
  15. 15. MISSING DESCENT OF THE PHARYNGEAL POUCH DERIVATES • migration parathyroid and thymus during their development  tissue remnants can also remain and survive at ectopic locations • do not give rise to functional disorders
  16. 16. PATHOLOGY OF THE FOREGUT • in the lower foregut region fistulas, stenosis and ectopic tissue also form the main class of the abnormalities.
  17. 17. ABNORMALITIES IN THE ESOPHAGUS REGION • Most frequent  Fistulas or atresias of esophagus ≈ abnormalities developing respiratory tract. • A=Atresia of the esophagus with a beginning fistula B=Atresia of the esophagus C=Atresia of the esophagus with fistula of the lower esophagus a section to the trachea D=Atresia of the esophagus with fistula of the upper esophagusa section to the trachea 1=Trachea 2=Esophagus • Seldom  stenosis of the esophagus result from a missing recanalization during development. • Atresias or stenosis of the esophagus  fetus cannot swallow and reabsorb amniotic fluid, leading to a polyhydramnion.
  18. 18. PYLORIC STENOSIS • = hyperplasia of the pyloric sphincter muscle  leads to sudden and convulsive vomiting, can be rectified by a longitudinal incision of the pyloric sphincter muscle. • relatively frequent, mainly in male newborns.
  19. 19. DUODENAL STENOSIS • based on an absent recanalization of the lumen. • very seldom.
  20. 20. PATHOLOGY OF THE MIDGUT • Disorders  due to the large changes in shape during the embryonic period in this region
  21. 21. MECKEL'S DIVERTICULUM • 2-4% of the population exhibits Meckel's diverticulum. • a sac with a dead end that lies ca. 50 cm cranial to the iliocecal valve and represents the remnant of the omphalomesenteric duct • usually it is discovered accidentally but can become infected or exhibit ectopic tissue.
  22. 22. OMPHALOCELE • omphalocele intestinal loops remain in the umbilical coelom and are not repositioned into the abdominal cavity, coated with amnion and peritoneum. • In an omphalocele intestinal loops are visible outside the body and skin and musculature are absent • DD/ with umbilical hernia = a weak abdominal musculature that is not able to hold back the intraperitoneal contents of the abdominal cavity • umbilical hernia is always covered with skin.
  23. 23. MALROTATION AND COECAL ELEVATION • Sometimes, when the intestinal loops return back into the abdominal cavity, no or an incomplete rotation occurs • can remain asymptomatic or lead to a volvulus or other form of strangulation.
  24. 24. ATRESIAS • incomplete recanalization of the intestinal lumen can also occur in the other regions of the intestines after the first trimester of the pregnancy.
  25. 25. AGANGLIONIC MEGACOLON (HIRSCHSPRUNG'S DISEASE) • frequency = 1:5000, boys >> • Hirschsprung's disease ( congenital megacolon) = a congenital defect of ganglion cells in the large intestine. • In a certain portion of the large intestine (thinner in this region and cannot expand very far) nerve cells are absent that normally stimulate the muscles to contract and transport the intestinal content. Both Auerbach's and Meissner's plexus are affected. • Stools remains at this location  congenital megacolon. • frequent accompaniment : absent relaxation of the anal sphincter muscle • Characteristic : the abdomens are bloated and hard – they suffer from vomiting and constipation • Therapy = a surgical removal
  26. 26. PATHOLOGY OF THE HINDGUT • embryonic hindgut begins already in the transition from the middle to the last third of the transverse colon, blood supply by the superior mesenteric artery ceases and blood supply of the inferior mesenteric artery begins. • only the abnormalities of the anus will be mentioned here.
  27. 27. MISSING PERFORATION OF THE ANUS, ANAL ATRESIA, FISTULAS • The development of the anus can be disturbed in a large number of ways. The disorder ranges from a simple membrane at the anal exit (persisting cloacal membrane) to atresias of various lengths. Every newborn, therefore, must be examined to see whether the anus is open. Sometimes the anal atresia is combined with a fistula, which connects the intestine with another structure of the original urogenital sinus. Frequently fistulas form that extend as far as the vagina, theurethra, the bladder or into the perianal region on the outside.
  28. 28. LIVER ABNORMALITIES ATRESIAS OF THE BILE PASSAGES • Many shape variations of the liver and the discharging bile passages exist but most of them have no functional importance. • One serious abnormality is an atresia of the bile passages. This disorder can occur at any place along the bile passage, from the tiny canaliculi to the discharging bile duct. Newborns with an atresia of the bile passages develop an icterus shortly after birth. When the cause cannot be corrected, a liver transplantation is necessary.
  29. 29. PANCREAS ABNORMALITIES • Pancreas abnormalities can affect only its form but also its function. Form variations are relatively frequent without there being any influence on function
  30. 30. ANNULAR PANCREAS • very seldom, frequently associated with the Down syndrome • pancreas forms a ring around the whole duodenum..
  31. 31. CYSTIC FIBROSIS (CF) • Cystic fibrosis(mucoviscidosis) is the second most frequent hereditary disease. • The outflow passages of the exocrine portion of the pancreas become stopped up due to the viscous mucus  buildup of secretion  fibrous tissue throughout the organ  pancreas insufficiency.
  32. 32. CYSTIC FIBROSIS (CF) • CF = a congenital, autosomal recessive, inherited, multi-organ syndrome caused by a deficiency of CFTR (cystic fibrosis transmembrane regulator), a regulatory protein of chloride transport through the cellular membrane with consecutive elevation of the viscosity of bodily secretions. • The defective enzyme on chromosome 7  influencing of the active chloride transport, primarily from epithelial cells. • The most severe sequelae : pulmonary (chronic bronchitis) and intestinal. • Gastrointestinal manifestations meconiumileus, pancreas insufficiency, maldigestion, prolapse of the rectum, cholestasis, prolonged icterus,cholestatic hepatic cirrhosis. • Death before the 1st year of life is almost exclusively due to intestinal complications, later as the result of pulmonary affection together with heart failure due to the overload of lung circulation. Life expectancy amounts to 25 - 35 years. • Diagnosis : Elevated osmolality and elevated NaCl content in sweat. • only symptomatic treatment available  retaining the longest possible organ functions. At various clinics a sweat test is now performed routinely as a part of newborn screening.
  33. 33. Maternal Consumption of Coffee and Caffeine-containing Beverages and Oral Clefts: A Population-based Case-Control Study in Norway
  34. 34. DISCUSSION FROM ARTICLE : A METABONOMIC APPROACH TO ANALYZE THE DEXAMETHASONEINDUCED CLEFT PALATE IN MICE • In the normal mouse embryo, palate shelves grow and elevate into a horizontal position by embryonic day 14 (E14) • By the day of E17, the process of fusion has completely finished. • Some studies  incidence of cleft palate may be closely related to high maternal concentration of plasma homocysteine OR lower activity of the glucocorticoids prereceptor metabolizing enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β2HSD2) in placental trophoblastic cells.
  35. 35. DAFTAR PUSTAKA • Embyology.ch • Article : A Metabonomic Approach to Analyze the Dexamethasone-Induced Cleft Palate in Mice • Jornal : Maternal Consumption of Coffee and Caffeine-containing Beverages and Oral Clefts: A Population-based Case-Control Study in Norway