Congenital and Dev Disorders Flashcards
Antenatal imaging procedure to detect gastroschisis?
Prenatal ultrasound
Management options for Gastroschisis?
Primary reduction (Double set-up)
Silastic silo
Gastroschisis is most strongly associated with which anomaly/anomalies?
Bowel abnormalities, atresia or stenoses
Interventions for Gastroschisis patients made prior to transfer?
6 steps
- Wrap bowels in clean kitchen wrap (bowel bag)
- Maintain normothermic
- NPO
- IV Fluid
- NGT
- Explain management to parents
Appropriate management of gastroschisis after primary reduction?
Observation
Long term complications after recovery from gastroschisis?
- Short Bowel Obstruction
- Short Gut Syndrom
- CV catheter-related sepsis
Sac is covered with peritoneum without overlying skin and insertion of distal umbilical cord.
Omphalocele
Management and Treatment for Omphalocele
- Wrap in moist, sterile dressings
- Prompt surgical repair
Omphalocele > 10cm
Giant omphalocele
How can you diagnose omphalocele prenatally?
- Ultrasonography
- Maternal a-fetoprotein (increased)
- Amniocentesis with chromosomal studies (for congenital anomalies)
Patient presents with macroglossia, what syndrome is most likely present?
Beckwith-Wiedemann chromosomal syndrome
(umbilical defect, gigantism, macroglossia, visceromegaly, pancreatic islet cell hyperplasia)
Other coexisting abnormalities commonly seen in patients with omphalocele?
- Cardiac anomalies - VSD, ASD, TOF, Ectopia cordis
- GI anomalies - Duodenal atresia (common in gastroschisis)
- Malignant tumor, neuroblastoma, adrenocortical tumors
- Chromosomal anomalies
Pre-operative interventions for patients with omphalocele
7 steps
- NGT with cont. drainage
- Sterile dressing w/ moist towels
- Plastic foilage
- Lateral position
- IV access
- Transport in heated incubator
- Rectal irrigation - NSS
Treatment options for omphalocele
- Reduce ophalocele, repair abdominal wall
- Immediate operation
- Excision of the sac
- Cylindrical tube (silo)
- Non-operative management
Absence of an anal opening
Imporforate anus
Initial laboratory tests and imaging for patients with imporforate anus?
- Cross-table lateral radiograph (invertogram)
- Xray of spine and chest
- Ultrasonography
- ECG
- MRI
What are the usual associated anomalities in patients with anorectal malformations?
VACTERL association
1. Vertebral/spinal cord abnormalities
2. Anorectal malformations
3. Congenital cardiac disease
4. TEF
5. Esophageal atresia
6. Renal anomalies
7. Limb defects
Diagnostic test/Imaging for Vertebral/spinal abnormalities?
Xray (Babygram), MRI for spinal injury
Diagnostic test/Imaging for Anorectal malformation?
Physical Exam
Diagnostic test/Imaging for Congenital cardiac disease?
2D Echo
Diagnostic test/Imaging for TEF/Esophageal atresia?
NGT insertion resistance
Drooling/excessive salivation
Diagnostic test/Imaging for renal anomalies?
Renal ultrasound
Diagnostic test/Imaging for limb defects?
Observation, PE
Plans and definitive management for patients with imporforate anus?
1st - Colostomy
2nd - Posterior Sagittal Anorectoplasty (after 4-6 months)
What are the pertinent information on history and PE of a patient with intestinal atresia?
- Vomiting (emesis)
- Polyhydramnios
- Association with congenital anomaly (Down Syndrome)
Differential diagnosis of Intestinal atresia?
- Duodenal atresia
- Malrotation (Vovulus)
- Jejunal atresia
Imaging signs seen in patients with intestinal atresia?
Double bubble sign (duodenal atresia, malrotation) More bubbles in jejunal atresia
Diagnostic examinations for intestinal atresia?
- Babygram AP, cross-table lateral = Double bubble sign
- 2D Echo
- KUB ultrasound
- Chromosomal analysis
Treatment modalities for intestinal atresia
SUPPORTIVE
1. OGT insertion
2. IV Fluids
3. CBC, Blood typing, electrolytes
SURGICAL
1. Exploratory laparotomy, repair of duodenal atresia
Possible complications of intestinal atresia?
- VACTERL
- Anastomotic leak
Presence of palpable mass on the inguinoscrotal area
Inguinal hernia
Differential diagnosis when inguinoscrotal mass is present?
- Inguinal hernia
- Hydrocele
- Testicular torsion
- Inguinal lymphadenopathy
Diagnostic tests for inguinal hernia?
- Inguinoscrotal ultrasound - defect on the floor of inguinal area, peristalsis/bulging omentum
3 types of Inguinal hernia based on severity
- Reducible
*2. Incarcerated - non reducible, obstruct site
*3. Strangulated - compromised blood supply, non-viable, necrotic
* TRUE SURGICAL EMERGENCIES
Treatment modalities for inguinal hernia
SUPPORTIVE
1. IV Fluids
2. Antibiotics
SURGICAL
1. Inguinal exploration, herniotomy
BEST time to operate on inguinal hernia?
On diagnosis
ASAP for incarcerated and strangulated
Complication of inguinal hernia and surgical intervention?
Strangulation
Most common/Initial symptom of patients with Meckel’s diverticulum?
Hematochezia / Massive painless GI bleeding
Differential diagnosis of Meckel’s diverticulum
- Bleeding Meckel’s diverticulum
- Bloody diarrhea
- Intussusception
- Others (Trauma, anal fissure, juvenile polyp)
Diagnostic examinations for Meckel’s diverticulum?
CBC, blood typing
Meckel’s diverticulum scintigraphy / Meckel’s scan
Colonoscopy
Meckel’s diverticulum scintigraphy results
(+) on left upper quadrant (stomach) - normal
(+) on left lower quadrant - Meckel’s diverticulum
Treatment modalities for Meckel’s diverticulum?
Supportive
1. IV Fluids
2. Blood transfusion of pRBC - correction of anemia and blood loss
3. Antibiotics based on px. clinical picture
Surgical
1. Wedge-resection anastomosis of diverticulum via laparoscopic-assisted or open technique
Treatment modalities for Meckel’s diverticulum?
Supportive
1. IV Fluids
2. Blood transfusion of pRBC - correction of anemia and blood loss
3. Antibiotics based on px. clinical picture
Surgical
1. Wedge-resection anastomosis of diverticulum via laparoscopic-assisted or open technique
Possible complications of Meckel’s diverticulum?
- Hypovolemic shock (failure of supportive treatment)
- Anastomotic leak
Rule of 2s: Meckel’s diverticulum
Incidence is roughly 2% of the population
If symptomatic clinically recognized at 2 y/o
2 inches in maximal dimension
Located 2 ft of the ileocecal valve
Common location of Meckel’s diverticulum?
Ileocecal valve (2 ft)
Vomiting, severe pain (intermittent colicky abdominal pain, blood-tinged mucoid stools, presence of mass (RLQ/LLQ)
Intussusception
Differential diagnosis of intussusception
- Intussusception
- Acute gastroenteritis
- Strangulated inguinal hernia
Initial management for intussusception
- IV Fluids
- NGT decompression
- IV antibiotics
- CBC, chem panel, blood typing
Imaging modalities for intussusception
- Abdominal xray
- Ultrasound - donut/target sign on transverse, pseudokidney on longitudinal
3. Barium/air contrast enema - GOLD STANDARD
Definitive treatment for intussusception
- Surgical exploration
- Reduction of intussusception
- Appendectomy (optional)
- Local / segmental resection
- Primary anastomosis
Golden period of intussusception
6-8 hours