Congenital Diseases Flashcards
number one cause of painless massive GI bleeding requiring a transfusion in children between the ages of 1 and 2 years.
Meckel’s Diverticulum
Asymptomatic diverticula
Diverticulosis
Meckel diverticulum rule of 2
the Meckel diverticulum
occurs in about 2% of the population,
is about 2 inches in length,
is usually located within 2 feet of the ileocecal valve, and
usually presents before 2 years of age
Vitello-intestinal/Omphalomesenteric duct disappears
disappears entirely by weeks 8-10 of gestation.
Adrenal cortex zone and hormones
zona glomerulosa (ZG), fasciculata (ZF), and reticularis (ZR), responsible to produce aldosterone, cortisol, and sex steroid hormone
pain in 9 IBS
low dose tricyclic antidepressants if pain is a dominant symptom
Hernia with lung hypoplasia
Bochdalek
If absent Vas deferens and consistent chest infection
Think of
Cystic fibrosis
<5 year child with severe pain during defecation with post bright red blood
Anal fissure
current jelly type stool in which disease
Inflammatory bowel disease
current jelly type stool in which disease
Intussception
cherry red masss protruding out of anal canal
Juv3nile polyps as FAP
> 10 years old child with pain in internal rotation
Slipped femoral epiphysis
So get Hip Xray
More common in extended breech babies is which disease
Developmental dysplasia of the hip
Hip pain referr3d to knee
What diagnosis
If between 5 to12 years then it’s PERTHES
If it’s in obese male then it’s Slipped upper femoral epiphysis
flattened femoral head in xray
Perth3s disease
Heterogenous above hyoid bone neck mass
Dermoid
Mass with fat, Calcium and hair in a young age boy
Dermoid
Most commo. Branchial cyst origin site
2nd branchial cleft
Suprahyoid vs infrahyoid neck mass in children
Supra: Dermoid
Infra: Thyroglossal duct
Lesion on ant vs post site of SCM muscle
Ant: Branchiwl cyst near angle of mandible
Post: lymphatic malformation
Age for cystic hygromq
Less than 2 years
calcified phleboliths in a lesion
Infantil3 hemangioma
Exomphalos and diaphragmatic herniae are commonly associated with
Intestinal malrotation
Ligament of Treitz
- stabilize the duodenojejunal flexure and prevent it from being displaced.
- Transi5ion between forgut and midgut
UGIB vs LGIB is through which
Ligament of treitz attachment at duodenojejunal flexure.
Keypoints of esophageal atresia
- Distal Tracheaoesophageal fistula is the commonest variant
- High incidence of polyhydramnios.
- Absence of gastric fluid on antenatal U/s.
- High incidence of of associated imperforate anus.
Malrotation surgery
ladds procedure
Hirschsprung’s disease
Absence of ganglion cells from myenteric and submucosal plexuses
Diagnosis of Hirschsprung’s disease
Full thickness rectal biopsy
Surgeryfor Hirshprung
ANORECTAL PULLTHROUGH
VACTERL association is with
Esophageal atresia
Biliary atresia Rx
Kasai Procedure
main risk factor of Necrotising enterocolitis
Prematurity
most common cause of meconium plugs
cystic fibrosis
ISt line RX of Meconium ileus
Intestinal lavage
Ectopic testes site
base of penis, femoral triangle and perineum and superficial inguinal pouch
IF an ectopic lateral testes then surgery should be
Open Orchidopexy
Problems that occur during feeding are more suggestive of proximal pathology of which
Esophageal atresia
posterior urethral valves is associated with
Patent Urachus
cherry red lesions surrounding the umbilicus
Umbilical granuloma
commonest cause of Omphalitis
Staphylococcus aureus
Rx of Umbilical granloma
chemical cautery with topically applied silver nitrate.
Persistence of part of the vitello-intestinal duct
Meckels diverticulum
Time taKen by umbilical hermia to close spontaneously
B /w 12 months and three years)
congenital defects cryptorchidism is associated with
Patent processus vaginalis
Abnormal epididymis
Cerebral palsy
Mental retardation
Wilms tumour
Abdominal wall defects (e.g. gastroschisis, prune belly syndrome)
congenital undescended testis is one that has failed to reach the bottom of the scrotum by which age
3 months of age
Time when orchidopexy needs to be done in undescendent testes
6-18months
Loss of sertoli cells due to undescendant testes
2years
When orchidectomy becomes better than orchidopexy in undescended testicle
In late teens when nothing is Present to besalvaged
Rx Of indirect inguinal hernia in children
Herniotomy
as post wall is usually normal and its due to Patent processus vaginalis
Rx Of indirect inguinal hernia in children
Herniotomy
as post wall is usually normal and its due to Patent processus vaginalis
why need of bilateral exploration of indirect inguinal hernia in children
As most of them are bilateral but not in males
Why only affected side is operated in males but bilateral in females in in direct inguinal hernia in children
BcZ risks of cord and testicular injury in males do not justify this approach and therefore only the symptomatic side is treated.
Causes of non bile stained vomiting in infancy
Infantile hypertrophic pyloric stenosis Gastro-oesophageal reflux
Feeding difficulties (technique/volume
Causes of bile stained vomiting in infancy
Malrotation with volvolos
Duodenal atresia
Hirschsprung’s disease
Anorectal malformations
Meconium ileus (cystic fibrosis)
Necrotising enterocolitis
Dx of Pyloric stenosis
Test feed or USS
Olive like mass is Palpable
The first line treatment for uncomplicated meconium ileus is
enemas of either dilute gastrograffin or N-acetyl cysteine.
Rx of Palpable vs non palpable undescendent testes after 6 months
Palpable: Orchidopexy
Impalpable: Laproscopy
Torsion of testes most common time
Torsion of a testicular or epididymal appendage char acteristically affects boys just before puberty
If UTI in children then what test to do always
As around 35% of children develop renal scarring it is important to investigate for VUR in children following a UTI
Diagnostic test for Vesicoureteric Reflux
micturating cystourethrogram
Cause of unilateral cleft lip
failure of nasolabial ring fusion
most common congenital deformity affecting the orofacial structures.
cleft lip and palate
Mainstay Rx of cleft Lip and palate
Surgical reconstruction
Pierre Robin sequence
isolated cleft palate
retrognathia and
a posteriorly displaced tongue (glossoptosis
Primary vS Secondary Palate
Primary is infront of incisive foramen
Secondary is behind it
Cleft palate is present due to
Cleft palate results in failure of fusion of the two palatine shelves.
Which part if hard palate contains greater palatine neurovascular bundle.
maxillary fibromucosa is thick and contains the greater palatine neurovascular bundle.
Inguinal hernia in infants
Inguinal hernia in infants = Urgent surgery
After 1 year of age the complication rate reduces significantly
Pleuroperitoneal hernia through which foramen
foramen of Bochdalek: through the dome of the diaphragm posteriorly.
Most common location of hypoSpadias
Distal and ventral surface of Penis
Bilious vomiting in neonates
Bilious vomiting in neonates is a surgical emergency and is intestinal malrotation and volvulus until otherwise proven.
What excess procedure is done in Ladds procedure of malrotation
Appendicectomy as caecum is now placed in upper right Quadrant
Two tests done in melrotation and their purpose
1• Abdominal u/s: determine the relationship between the superior mesenteric artery and vein (normally SMA lies to the left of the SMV
2. upper GI contrast study: To check that DJ Flexure is correctly sited to left of vertebra in case midgut volvolvs has occured.
one of colicky abdominal pain, together with a mass on clinical examination.
mostly think of intusscaption
Common GI congenital issue in Down syperonne babies
Drodenal atresia
Rx of Duodenal atresia
Duodenoduodenostomy
Persistent vitello-intestinal ductsdiagnosis
contrast study to delineate the anatomy
Common sites of Necrotising Entercolitis
Terminal ileum
caecum
distal colon
Tests to done to rule outbiliary atresia or Physiological jaundice
Conjugated bilirubin
Diagnosis of Biliary atresia
- u/S to rule out extrahepatic causes
- Hepato-iminodiacetic acid radionuclide scan (good uptake but no excretion usually seen)
Rx of biliary atresia
Roux-en-Y portojejunostomy (Kasai procedure).
Biliary atresia is confused with
Alagille syndrome autosomal dominant disorder
Pyloric stenosis typically presents in
second to fourth weeks of life with vomiting,
Electrolyte diS order in Pyloric stenosis
hypochloraemic, hypokalaemic alkalosis due to persistent vomiting
Buckle fractures features
Buckle fractures will show periosteal haematoma formation only, no cortical disruption
Toddlers fracture
Oblique tibial fracture in infants
Osteogenesis imperfecta X-ray findings
Translucent bones
Multiple fractures, particularly long bones
Wormian bones (irregular patches of ossification)
Trefoil pelvis.
Surgery for uncomplicated umbilical hernia
After 3 years of age
Not before that because strangulation is rare
Location of cystic hygroma
Cystic hygromas are soft and transilluminate. Most are located in the posterior triangle.
Cyanosis worst during feeding
Choanal atresia
Midline cystic mass with air fluid level in infants
Bronchogenic cyst
Midline cyst@ carina with air fluid levels
Bronchogenic cysts
Bronchogenic cyst forms due to
anomalous development of the ventral foregut.
Rx of Bronchogenic cysts
Thorascopic resection
after six weeks of age
poor muscular development and hyper-mobile fingers at young age
Osteogenesis imperfecta
Common orthopedic issue caused by breech delivery
Developmental dysplasia of the hip
Rx of evelopmental dysplasia of the hip atearly age
Arthrodesis
Developmental dysplasia of the hip diagnosed by
Barlow and Ortolani tests
Perthes disease vs developmental dysplasia of the hip
In latter one have shallow acetabulum
Most common other anomaly with hypospadias
Although it’s mostly isolated but if with other disease then it’s with Cryptorchidism
Wilm’s Tumor affect which age group
1-4years of age
Some features of Nephroblastoma(Wilms Tumor)
right sided loin pain
lethargy
haematuria
Pyrexia
Large mass in right upper quadrant
Branchial cyst location and derivation
Branchial cysts are usually located laterally and derived from the second branchial cleft.
Bronchial cyst location
In ant triangle
near angle of mandible
Midline neck mass
Thyroglossal cyst below hyoid
Dermoids above hyoid
Ant vs post triangle mass
Ant: Branchial cyst
Post: Lymphatic malformation I.e Cystic hygroma
USS of Branchial Cyst
Anechoic on USS unless infected
Fluid of choice in children with no hemodynamic instability aka maintenance
Any isotonic crystalloid
Both Hartmann or 0.9% Normal saline can begiven
Indications for IV fluidsin children
Resuscitation and circulatory support
Replacing on-going fluid losses
Maintenance fluids for children for whom oral fluids are not appropriate
Correction of electrolyte disturbances
Giving fluid in children causes which electrolyte abnormality
Hyponatraemia
Harrison Sulcus is present @which rib area
6th coastal cartilage
Some features of Rickets
Bowing of leg
Rickettary rosary
Harrison sulcus
widening and cupping of epiphysis on X-ray
Most common abd emergency in children under 1year of age
M. C is inguinal hernia then Intussusception
Diseasewhich Present in Istweek of life
Pylorir stenosis
Malrotation
Hyperactivity and short stature are associated with
Perthes disease
Xray of slipped upper femoral epiphysis
displacement of the femoral epiphysis inferolaterally.
spiral fractures are caused by which type of injury
spiral fractures are usually the result of rotational injury
Surgery for biliary atresia
Kasai Procedure
Marble bone disease
Osteopetrosis
. If post rib # in neonates
Non accidental injury as post rib fracture is extremely rare in neonates
If breech baby with normal Barlow and ortolani tests then
Get a hip USS to rule out developmental dysplasia of hip
which intestinal disorder with down syndrome
Duodenal atresia
Kocher criteria for septic arthritis?
Kocher’s ‘WIFE’ is:
WCC >12
Inability to weight bear
Fever
ESR >40
= >90 chance of septic arthritis
commonest organism ofseptic arthritis
Staph aureus
Youngboy with Bloody diarrhoea and weigh loss
Inflammatory bowel disease
Investigation of inflammatory bowel disease
Endoscopy
Investigation of inflammatory bowel disease
Endoscopy
Early plain x-ray changes in Perthes Disease:
Widening of the joint space.
Sub chondral linear lucency.
Sistrunk procedure
Thyroglossal excision of the cyst and track
Diseases associated with intussception
polyps, lymphadenopathy and cystic fibrosis
Diagnosis of intussectionmade by
Ultrasound
