B. Scaphoid abdomen - Diaphragmatic hernia - EA without TEF C. Excessive mucus & salivation - EA with/ without TEF D. Abdominal distention - Pneumoperitonium Causes are : NEC, bowel wall ischemia, instrumentation, TEF
E. Vomiting: 1. Bilious emesis : Can be a life threatening emergency 20% require immediate surgical intervention Causes: - Malrotation with/ without volvulus - Duodenal/jejunal/ileal/colonic atresias
F. Failure to develop transient stools: - volvulus - Malrotation G. Hematemesis/ Hematochezia: - Nonsurgical conditions : > Milk intolerance > Instrumentation > Swallowed maternal blood
- Surgical conditions : > NEC (most frequent in premature infants) > Gastric/duodenal ulcers (stress/steroids) > Coagulation disorders (DIC/ Vit K def.) > Volvulus > GI obstructions > Intussuception > Polyps/ hemangiomas
> Meckel diverticulum > Duplication of small intestine H. Abdominal mass : - GU abnormalities - Hepatosplenomegaly - Tumors I . Birth trauma: - Fractured clavicle - IC haemorrhages - Spinal cord transection
Lesions causing Respiratory distress A. EA and TEF: - 85% association - Absence of stomach bubble Postnatal presentation - Excessive salivation & vomiting soon after birth - Scaphoid abdomen
Diagnosis: - Inability to pass NG tube - Confirmed by X ray : coiled catheter , distended upper oesophagus after pushing air. Other associated anomalies: - Vertebral defects - Imperforate anus - Cardiac defects - Renal dysplasia - Limb anomalies
Management: - Oro-nasal suction - Head end elevation -45 degree - Immediate gastrostomy tube placement.
Tracheo Esophageal Fistula (TEF)
Incidence : 1:4000 live births M > F (25:3) 10-40% are preterm Antenatal history : polyhydramnios (60%) Etiology : failure in mesenchymal separation of upper foregut
35-65% have associated anomalies V Vertebral anomalies or VSD A Anorectal malformation C Cardiac anomalies (common) T TEF E Esophageal atresia R Renal abnormalities L Limb/radial malformation
- NPO - IVF & Antibiotics - Ensure availability of blood in the OT - Optimize volume status and metabolic state Intubation preferably in the operating room under controlled situation Echo
Surgical repair Ligation of fistula Esophageal repair Chest tube placement and closure of thoracic cavity
Diaphragmatic Hernia
- Most difficult of all neonatal emergencies - Most common site is left hemithorax. - Incidence 1 : 4000 live births - Associated with trisomies 13 & 18, 45 XO Goldenhar syndrome, Backwith- Wiedmann synd. Pierre robin synd. Goltz-Gorlin synd. Rubella synd.
Symptoms : - Cyanosis at birth - Respiratory distress - Scaphoid abdomen - Decreased / absent breath sounds on hernial side - Shift of cardiac sounds opposite to the hernia
Diagnosis: 1. Antenatal diagnosis – - Often undetected as it occurs mostly after 16 wks. - Presence of liver in the thorax asso with increased severity & poor prognosis
2. Postnatal diagnosis: X ray : cardiothymic shift - loops of bowel in the chest - mediastinal shift - absent lung markings
Treatment: - Immediate intubation - Bag & mask is contraindicated - immediate NG tube insertion & continuous suction. - Low pressure ventilation - to avoid damage to contra lateral lung. - Surgical repair with reduction of intestine into abdominal cavity.
Extracorporeal Membrane Oxygenation (ECMO) Use: controversial Allows the lungs to develop & restructure Expensive
Criteria for ECMO Gestational age ≥ 34 wks Weight ≥ 2000 grams Predicted mortality ≥ 80%
Head and Brain Neural tube defects NTDs have a complex, multifactorial etiology involving genetic and environmental interactions, with most cases occurring sporadically.
INCIDENCE : Spina bifida is one of the most common birth defects, with an average worldwide incidence of one to two cases per 1000 births, but certain populations have a significantly greater risk. Myelomeningocele is the most significant and common form, and this leads to disability in most affected individuals. This condition is more likely to appear in females; the cause for this is unknown. Causes are usually multifactorial with some genetic predisposition.
Etiology and risk factors Environmental Risk Factors: Maternal hyperthermia and hyperglycemia Lower socioeconomic status Dietary factors Prenatal exposure to drugs (e.g., antiepileptic medications like valproate and carbamazepine) Fungal toxin fumonisin (linked to 4-5x higher NTD prevalence in Mexican-American populations due to corn flour in tortillas) Genetic Risk Factors: Chromosomal abnormalities (e.g., trisomies 13 and 18) Single gene disorders (e.g., Waardenburg syndrome) Risk alleles (e.g., MTHFR and VANGL1 variants) ~200 genes involved in neurulation, many related to folic acid metabolism/transport Associated with genes linked to diabetes mellitus, obesity, glucose metabolism, and oxidative stress Epigenetic Mechanisms: Histone modification, methylation, and nucleosome remodeling.
Anencephaly Anencephaly results from failed anterior neural tube closure progressing from exencephaly to neural tissue degradation. Most severe NTD. Brain tissue extrudes through unformed calvaria, and degraded by amniotic fluid exposure. Accounts for ~50% of open NTDs. Occurs by 24 days’ gestation. Involves absence of calvaria; intracranial contents replaced by disorganized vascular glial tissue (area cerebrovasculosa). Forebrain and upper brainstem commonly affected. Detectable via fetal ultrasound in 1st or 2nd trimester. Often associated with polyhydramnios. Most neonates stillborn. Liveborn infants typically survive <1-2 months.
Myelomeningocele MMC is an open spinal neural tube defect (NTD) due to failed posterior neuropore closure by day 26 of gestation. Characterized by herniation of meninges and spinal cord , typically in lumbar/lumbosacral regions. Exposed lesion without vertebral or dermal covering. Associated with Chiari II malformation and obstructive hydrocephalus. Hydrocephalus prevalence: 60% (occipital/cervical/thoracic/sacral lesions) vs. 90% (thoracolumbar/lumbar/lumbosacral lesions). Other anomalies: congenital heart disease, tethered cord, syringohydromyelia. Assess lower extremity sensory/motor function, spontaneous movements, response to touch/pain, voiding/stooling patterns. Monitor for Chiari symptoms (apnea, stridor, poor feeding) and increased intracranial pressure.
Treatment of myelomeningocele Individualized approach; surgical closure within 48 hours post-birth to prevent infection or fetal surgery. Involves neurosurgery, urology, physical therapy, and long-term specialists (developmental pediatrics, neurology, rehabilitation). Long-term management: neurogenic bladder/bowel, endocrine, orthopedic, neuropsychiatric care. CSF diversion (shunting) may be needed post-closure or for shunt complications. Additional surgeries for Chiari II sequelae, tethered cord, or syringohydromyelia. Myeloschisis: Myeloschisis defects also lack overlying vertebrae and skin but dif f er from MMC lesions in that there is no overlying CSF-f i lled sac.
Anorectal malformations
Frequency 1 : 5000 live births
TYPES HIGH TYPE LOW TYPE
Clinical Findings High type : A flat perineum & lack of a midline gluteal fold Absence of an anal dimple Low type : the presence of meconium at the perineum, A bucket-handle malformation Anal membrane (through which meconium is visible).
Skeletal System : Partial or complete lumbosacral agenesis Hemivertebrae Agenesis of thoracic vertebrae Scoliosis Hemisacrum or scimitar sacrum Asymmetric sacrum Posterior protruding sacrum Agenesis of the coccyx
Gastrointestinal and Cardiovascular Systems VATER and VACTERL associations: Esophageal atresia Duodenal atresia Ventricular or atrioseptal defects Tetrology of Fallot Hirschsprung's disease
Surgical therapy Colostomy Definitive repair
Colostomy Newborn boys Rectobulbar urethral fistula Rectoprostatic urethral fistula Rectovesical fistula Imperforate anus without fistula Rectal atresia
Newborn girls Colostomy - Rectovestibular fistula Imperforate anus without fistula Persistent cloaca Rectal atresia Rectovaginal fistula
COLOSTOMY
Definitive repair Anoplasty : Indications Rectoperineal fistula - girls & boys Covered anus Bucket-handle malformation
posterior sagittal ARP Laprotomy
PSARP
Outcome after surgery Altered bowel habits in most of the cases 50% - few episodes of accidental soilage Few of them require major adjustments in lifestyle secondary to fecal incontinence, chronic constipation, and odor.
Necrotizing Enterocolitis (NEC)
Life-threatening intestinal inflammation or injury Caused by bacterial invasion of previously injured or ischemic bowel wall Incidence: 5 -10% in infants <1500g birth weight Mortality rate: 10 - 30%
Single most important factor PREMATURITY Can occur in: LBW infants Full term infants Fed and unfed infants
Other factors - ischemia - bacterial infection - GI endotoxemia - enteral feeding - use of hyperosmolar formula - congenital heart disease - umbilical arterial catheterization - exchange transfusion
Early signs - ↑ gastric residuals with feedings - temperature instability - poor feeding - bilious vomiting - lethargy - mucoid or bloody stool - apnea and bradycardia
Physical Exam distended and tender abdomen Labs: CBC electrolytes and glucose platelets and coagulation profile DIC profile ABG
Abdominal X-ray signs of bowel obstruction Ileus with edematous bowel Pneumatosis intestinalis or intramural air (arrow) Air in portal vein pneumoperitoneum
Medical Management No enteral feedings for 10-14 days NGT on intermittent suction Hydration and correction of electrolytes Ventilatory support Antibiotics Blood and platelet transfusion if needed