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blocketch.crisostomo.dejoras.delmundo.delossantos. History of Present Illness Patient was born 10/30/09, full term, 37 3/7 weeks by LMP to a 23 y/o G2P0 (0-0-1-0) mother, at home assisted by a midwife. No known maternal illness during pregnancy. Regular monthly prenatal consults c/o local health center ; no ultrasound studies done (+) intake of folic acid, ferrous sulfate, multivitamins (-) smoking/alcohol/drugs/exposure to radiation At birth: Good cry and activity (+) eviscerated bowels at umbilical area (-) fever/cyanosis/apnea/vomiting (-) other gross deformities Patient was immediately brought to Trece Martires Hospital but was advised transfer to PGH for further evaluation and management. Review of Systems (-) fever/cough/colds (-) jaundice (-) cyanosis/apnea (-) vomiting (-) hematemesis/hematochezia/melena (+) urine output (-) seizure Birth and Maternal History As above G1 2007 spontaneous abortion, noninduced, no known maternal illness at the time Family Medical History • • • • • • • • • (+) Polydactyly (hands and toes) – mother (-) Hypertension (-) DM (-) Pulmonary TB (-) Cancer (-) Bronchial asthma (-) Allergies (-) Similar condition (-) Other congenital defects Immunization History None Developmental History (+) Moro reflex (+) Rooting reflex Good cry, fair activity Good pulses, HR 140-150, RR 40-50, T 36.7 Pink conjunctivae, anicteric sclerae, (-) nasoaural discharge, (-) tonsillophayngeal congestion, (-) anterior neck mass, (-) cervical lymphadenopathy, (-) neck vein engorgement, trachea midline, (-) carotid bruits Equal chest expansion, (-) retractions, clear breath sounds, (-) rales, (-) wheezes Adynamic precordium, (-) precordial bulge, (-) heaves, (-) thrills, distinct heart sounds, normal rate, regular rhythm, (-) murmurs Globular abdomen, (+) eviscerated erythematous bowels Grossly female genitalia Full and equal pulses, pink nail beds, CRT <2sec, (-) cyanosis, (-) edema, (-) clubbing, (-) jaundice Neuro: awake, alert, pupils 2 mm EBRTL, full EOMs, (+) corneal reflex, (-) facial asymmetry, (+) gag reflex, uvula midline, tongue midline, spontaneous movement of extremities, withdraws to pain, DTRs +2, (+) Moro reflex, (+) rooting reflex, (+) Babinski bilateral, (-) clonus, (-) nuchal rigidity, (-) nystagmus Point of comparison Incidence Peritoneal sac GASTROSCHISIS OMPHALOCOELE • 1 in 5,000 live births • Small – 1 in 5,000 • Occurs more often • Large – 1 in 10,000 in babies born to younger mothers (usually under 20 years of age) Absent Present Location of defect Right Periumbilical Base of umbilical cord Contents Edematous bowels Abdominal viscera • Low • 10% intestinal atresia • High • Associated w/ other congenital anomalies Associated anomalies GASTROSCHISIS OMPHALOCOELE GASTROSCHISIS Full term 37 weeks by pediatric aging, 2040 grams small for gestational age, Cephalic presentation, Delivered via spontaneous vaginal delivery, Live baby girl, APGAR 9-9, Non-institutional delivery FLUIDS/FEEDING • 1st HD: At the ER, initially given IV bolus 20 cc/kg pLR then maintained on D10W at 17 cc/hr (TFI = FM + 100%). • 2nd HD: In the wards, IVF revised to PPN D10-Na3-K2-Ca300-AA0.5 at 12 cc/hr (TFI = FM + 50%) • 3rd HD: IVF shifted to D10IMB-Ca300 (TFI = FM + 50%) at 12-13 cc/hr. RESPIRATORY • 1st HD: Intubated ET3L8, MV FiO2 100% PIP 18 PEEP 5 RR 40 IT 0.5 • 3rd HD: Patient being weaned off MV. FiO2 decreased to 60%. • ABG showed pH 7.497, pCO2 20.9, pO2 225.9, HCO3 19.6, Beb -5.7, O2st 99.8%. • 4th HD: FiO2 30 PIP 16 PEEP 5 RR 33 IT 0.5 INFECTIOUS • 1st HD: At the ER, started on Meropenem (40) 80 mg IV q12 and Amikacin (15) 30 mg IV OD. • 2nd HD: Shifted to Cefuroxime (100) 70 mg IV q8 and Metronidazole (15) 30 mg IV OD. CARDIAC/CIRCULATORY HEMATOLOGIC CBC (10/31) Hgb 194 Hct 0.68 Plt 158 WBC 14.6 (N 0.793, L 0.176) (11/01) Hgb 186 Hct 0.553 Plt 276 WBC 12.6 (N 0.516, L 0.307) METABOLIC Blood chemistry (10/31) BUN 4.67 Crea 80 Na 136 K 5.1 Cl 103 (11/01) Crea 95 Ca 1.89 Na 147 K 5.1 Cl 118 (11/ 02)BUN 3.94 Crea 45 ONCOLOGIC NEUROLOGIC DEVELOPMENTAL Surgical For ‘E’ closure of abdominal wall defect s/p silo bag closure (10/31/09 Rimando) s/p fascial closure (11/03/09 Rimando) Diagnostics • CBC (10/31) Hgb 194 Hct 0.68 Plt 158 WBC 14.6 (N 0.793, L 0.176) (11/01) Hgb 186 Hct 0.553 Plt 276 WBC 12.6 (N 0.516, L 0.307) • Blood type O+ • Blood chemistry (10/31) BUN 4.67 Crea 80 Na 136 K 5.1 Cl 103 (11/01) Crea 95 Ca 1.89 Na 147 K 5.1 Cl 118 (11/02) BUN 3.94 Crea 45 Definition A herniation of abdominal contents through a paramedian full-thickness abdominal wall fusion defect usually to the right of the umbilical cord. A gastroschisis usually contains small bowel and has no surrounding membrane. Embryology Human embryo initially has 2 layers that looks like a disc. As it acquires a third cell layer, it becomes cylindrical; it then elongates and invaginates over the umbilical ring. The body folds (cephalic, caudal, lateral) centrally fuse, where the amnion invests the yolk sac. Defective development at this critical location results in a spectrum of abdominal wall defects. Pathophysiology Theories: 1. 2. 3. 4. 5. Failure of mesoderm to form in the body wall Rupture of the amnion around the umbilical ring with subsequent herniation of bowel Abnormal involution of the right umbilical vein leading to weakening of the body wall and gut herniation Disruption of the right vitelline (yolk sac) artery with subsequent body wall damage and gut herniation Failure of the yolk sac and related vitelline structures to be incorporated into the umbilical stalk providing a connection through the ventral wall and acts as the egress point for the gut Maternal Risk Factors 1. Maternal Young Age 2. Smoking History 3. Maternal Infection 4. Recreational Drug Use 5. Maternal Medications 1. Young Maternal Age Pregnancies younger than 20 years of age were at 7.3 times greater odds for being affected with gastroschisis than pregnancies in women aged 25 or older. For pregnant women aged 20 to 24 years, the odds were 1.9 times greater. Haddow JE, Palomaki GE, Holman MS. (1993) Young maternal age and smoking during pregnancy as risk factors for gastroschisis. Teratology 47:225–8 Evidence from the present study and other published studies clearly establishes a greater risk for fetal gastroschisis in pregnant women younger than age 20, even after adjustment for smoking status. Haddow JE, Palomaki GE, Holman MS. (1993) Young maternal age and smoking during pregnancy as risk factors for gastroschisis. Teratology 47:225–8 In a case-control surveillance program of births defects (76 gastroschisis cases versus 2581 malformed controls), Werler et al (1992) found a strong inverse association between maternal age and gastroschisis. Compared with women 30 years or older, the relative risks of gastroschisis for 25–29, 20–24 and younger than 20-year-old women were 1.7 (95% CI: 0.7, 4.1), 5.4 (95% CI: 2.6, 11) and 16 (95% CI: 8.1, 30) . Werler MM, Mitchell AA, Shapiro S. (1992) Demographic, reproductive, medical, and environmental factors in relation to gastroschisis. Teratology 45:353–60 2. Smoking History Pregnant women who smoked cigarettes were at 2.1 times greater odds than non-smokers. Haddow JE, Palomaki GE, Holman MS. (1993) Young maternal age and smoking during pregnancy as risk factors for gastroschisis. Teratology 47:225–8 3. Maternal Infections There is a significant association between self reported urinary tract infection plus sexually transmitted infection just before conception and in early pregnancy and gastroschisis. Case-control study of self reported genitourinary infections and risk of gastroschisis: findings from the national birth defects prevention study, 1997-2003 ML Feldkamp, et al. BMJ 2008 336: 1420-1423 Crude odds ratios were: 2.0 (95% confidence interval 1.6 to 2.6) for sexually transmitted infection or urinary tract infections 1.7 (1.0 to 3.0) for sexually transmitted infection only 1.9 (1.5 to 2.6) for urinary tract infection only 6.8 (2.6 to 17.5) for sexually transmitted infection and genitourinary infection Case-control study of self reported genitourinary infections and risk of gastroschisis: findings from the national birth defects prevention study, 1997-2003 ML Feldkamp, et al. BMJ 2008 336: 1420-1423 Urinary tract infections are common during pregnancy, probably share common risk factors with sexually transmitted infections and also are more common among adolescent girls who are sexually active. Our finding that the risk was highest for exposure to both types of infection, particularly among younger women, suggests a combined role of infection and early sexual activity. Case-control study of self reported genitourinary infections and risk of gastroschisis: findings from the national birth defects prevention study, 1997-2003 ML Feldkamp, et al. BMJ 2008 336: 1420-1423 4. Recreational Drug Use Statistically significant adjusted odds ratios for gastroschisis were associated with firsttrimester use of: Any recreational drug (odds ratio (OR) = 2.2, 95% confidence interval (CI): 1.2, 4.3) and 2. Vasoconstrictive recreational drugs (defined as cocaine, amphetamines, and ecstasy) (OR = 3.3, 95% CI: 1.0, 10.5). 1. Recreational Drug Use: A Major Risk Factor for Gastroschisis? ES Draper et al., American Journal of Epidemiology 2008 167(4):485-491 5. Medications This retrospective study evaluated the relation between maternal use of cough/cold/analgesic medications and risks of gastroschisis. Drug Odds Ratio Aspirin 2.7 Pseudoephedrine 1.8 Acetaminophen 1.5 Pseudoephedrine combined with Acetaminophen 4.2 Maternal Medication Use and Risks of Gastroschisis and Small Intestinal Atresia MM Werler, et al.; American Journal of Epidemiology 2002 Vol. 155, No. 1 : 26-31 Early Detection During Pregnancy 1. Elevated maternal serum alphafetoprotein levels in 2nd trimester 2. Evidence on Ultrasonography 3. Amniocentesis FETAL ULTRASOUND • Bowel protruding from abdominal wall defect • A 2-5 cm right paramedian paraumbilical abdominal wall defect • Normal insertion of the umbilical cord Goals of Management 1. Prenatal Monitoring 2. Delivery 3. Preoperative Management 4. Surgery 5. Fluids/Nutrition 6. Prevention/Treatment Of Complications 1. Prenatal Monitoring Daily fetal movement count Serial UTZ Fetal Non-stress test/Biophysical profile 3rd trimester – at risk for gastroschisisrelated complications such as bowel dilatation/inflammation, intestinal damage, IUGR, oligohydramnios 2. Delivery There was no significant relationship between mode of delivery and: Rate of primary fascial repair Neonatal sepsis Pediatric mortality Time until enteral feeding Length of hospital stay Segel SY, Marder SJ, Parry S, et al: Fetal abdominal wall defects and mode of delivery: A systematic review. Obstet Gynecol 98(5 Pt 1):867- 873, 2001 3. Preoperative management OGT insertion – for gastric decompression Endotracheal intubation – for respiratory distress Minimize and correct fluid, electrolyte, and heat losses Place under a radiant heater Cover exposed bowels Foley catheter insertion – for urine output monitoring IV BOLUS: 20 cc/kg pLR to replace significant ongoing fluid losses 4. Surgery Primary repair: reduction of the bowel and complete abdominal wall closure in one operation immediately after birth Staged repair: Silo – placed around the herniated bowel, which is then reduced daily at the bedside until the abdominal contents are level with the skin. Final fascial closure 5. Fluids/Nutrition Maintenance fluids: FM + 50-100 % Nutrition: A central venous line is placed intraoperatively to provide parenteral nutrition, thereby minimizing catabolic protein loss during the period of GI dysfunction which may take up to 3 months. 6. Prevention/Treatment of Complications Infection: Broad-spectrum antibiotics are administered to prevent contamination of the peritoneal cavity. Hemodynamic/circulatory compromise : ensure adequate hydration, monitor renal status Respiratory distress : ensure adequate ventilation Watch out for hepatotoxicity from prolonged parenteral nutrition Factors Severity of associated problems Prematurity Intestinal atresia Intestinal inflammatory dysfunction Short gut syndrome Hemodynamic stability Pulmonary growth and development GI maturity Thank you!