Surgery Flashcards

Question

Spondylosis and spondylolisthesis - general

Answer 1

i. Definitions 1. Spondylosis is unilateral or bilateral defect (separation) in the vertebral pars interarticularis, usually in L5 2. Spondylolisthesis occurs when bilateral defect permits the vertebral body to slip anteriorly (slipped disc) 3. Spondylosis to spondylolisthesis in 15% of cases 4. Spondylosis is common (6%) particularly in atheletes ii. Clinical features 1. Presents in early adolescence 2. Aching low back pain that is exacerbated by hyperextension and relieved by rest – pain may extend into the buttocks and posterior thighs 3. Acute low back pain if fracture through with pain radiating down legs iii. Examination findings 1. Lumbosacral tenderness, particularly on extension 2. Hamstring tightness v. Treatment 1. Rest and lumbar bracing 2. Surgical fusion if intractable pain or slippage of greater than 50%

Answer 2

1. Definition = lateral curvature of the spine with vertebral rotation Prevalence up to 3/100 (curves 10-30 degrees) Girls>boys 3D deformity X-linked and AD inheritance, hormonal factors Idiopathic (most common 90%), neuromuscular, congenital, hysterical, functional, mixed Infantile 0-3 Juvenile 3-10 Adolescent >10 (most common - 80-85%) Features - back pain - asymmetry of shoulder, pelvis - Adams forward bend test shows a rib prominence to the side of the curve - lateral deviation of the head is measured from the natal cleft by dropping a plumb line from the C7 vertebra - lower limb lengths should be assessed for true vs apparent limb-length discrepancy - truncal shift should be assessed - assess for associated features (CALM e.g. NF, spinal dysraphism, joint laxity) - full neuro exsam vii. If the curve disappears completely when the child bends forward, it can be labeled ‘postural’ and treatment is not required viii. Should a rib hump become visible (due to rotation of the vertebra and deformity of the rib) the curve is labeled ‘structural’ Ix - XR whole spine - MRI/CT Rx - assessment by paed spinal surgeon (esp if >20 degrees) - observe if mild e.g. <20 degrees, unlikely to progress after 15 years of age - bracing (controversial) - surgery +/- spinal fusion - treat any intraspinal abnormalities (e.g. dysraphism) before attempting correction

Answer 3

1. Surgical a. Malrotation with midgut volvulus b. Intestinal atresia = duodenal atresia, jejunoileal atresia c. Meconium ileus d. Necrotising enterocolitis e. Hirschsprung’s disease 2. Non-surgical a. Sepsis b. Meningitis c. Omphalitis d. Reflux

Answer 4

An omphalocele is a midline abdominal wall defect (absent skin, fascia, abdominal muscles) of variable size at the base of the umbilical cord. The defect is covered by a three-layer membranous sac consisting of amnion, Wharton's jelly, and peritoneum. The cord/umbilical vessels insert at the apex of the sac, which typically contains herniated abdominal contents. Omphaloceles are categorized as either non-liver-containing (containing bowel loops) or liver-containing. 1. Key points a. Triad of features i. Midline abdominal wall defect of variable size – most commonly at the cord insertion site ii. Covered by membrane of amnion and peritoneum (with Wharton’s jelly between the two layers) iii. Contains abdominal contents b. Sac is translucent at birth but quickly becomes opaque as it desiccates c. The abdominal cavity is proportionately small because the impetus to grow and develop is deficient d. The size of the sac that lies outside the abdominal cavity depends on its contents i. Herniation of intestines = 1/5,000 births, ii. Herniation of liver and intestines = 1/10,000 births e. NOTE: defects <2cm diameter considered hernias of umbilical cause; no associated anomalies or genetic syndromes 2. Classification a. Minor = gut only i. Primary reduction, closure ii. Unless complex neonate eg. cardiac b. Major = liver also i. Injudicious reduction may cause damage/ death (due to potential to kink vessels/liver) 3. Associated abnormalities a. 75% of infants with omphalocele have associated congenital anomalies/ syndromes i. Fetuses with omphalocele containing liver typically have a normal karyotype ii. If liver entirely intracorporeal risk of aneuploidy higher b. Beckwith-Wiedemann syndrome = omphalocele + macrosomia + hypoglycaemia c. Other chromosomal anomalies = T13, T18 d. Other isolated congenital anomalies = musculoskeletal (25%), urogenital (20%), cardiovascular (15%), CNS (10%)

Answer 5

5. Investigations a. Prenatal USS = by the end of the first trimester (11-14 weeks) almost all omphaloceles can be detected b. Fetal genetic studies c. Testing for Beckwith-Wiedemann syndrome d. Fetal echo 6. Treatment a. Supportive i. Sterile wrapping of the bowel to preserve heat and minimize insensible fluid loss ii. Insertion of an orogastric tube to decompress the stomach iii. Stabilizing the airway to ensure adequate ventilation iv. Establishing peripheral intravenous access v. Positioning left-side down right-side up if low blood pressure, tachycardia, or dusky bowel appearance suggesting vascular compromise b. Surgery i. Requires immediate surgical repair – prevent infection + damage of tissue 7. Outcome a. Survival rate 80% overall b. Isolated omphalocele >90% c. Recurrence risk depends on cause – most cases are sporadic

Answer 6

4. DDx = Gastroschisis a. Membranous sac key differentiating feature (NOT present in gastroschisis) b. Cord insertion site is umbilical in omphalocele and para-umbilical in gastroschisis Umbilical cord hernia – In an umbilical cord hernia, the umbilical cord inserts normally into the umbilical ring, which is surrounded by intact skin and is typically <2 cm in diameter, whereas in an omphalocele, the cord inserts into a membranous sac that covers a large abdominal wall defect occupying the area of the umbilical ring. Like an omphalocele, umbilical cord hernias can contain bowel, but in contrast to omphaloceles, they are not associated with an increased risk for anomalies or genetic syndromes.

Answer 7

1. Key points a. Small defect immediately to the right of the umbilicus through which bowel (and sometimes gonads) herniate b. No covering sack c. The eviscerated small + large bowel is thickened and densely matted with exudate as a result of amniotic peritonitis before birth d. Serum AFP elevated in all pregnancies e. Pregnancy complications = IUGR, fetal demise, spontaneous preterm birth, bowel thickening and dilatation 2. Associated malformations a. 10% associated with malformations b. 25% have gastrointestinal comorbidities – atresia, stenosis, perforation, necrosis, malrotation, volvulus c. Abnormal karyotype in 1% of cases – isolated gastroschisis NOT associated with aneuploidy 3. Risk factors a. Inverse association between maternal age and fetal gastroschisis – highest prevalence in women <20 years

Answer 8

4. Investigations a. Prenatal USS = visualisation of Paraumbilical abdominal wall defect + Paraumbilical defect b. Serum AFP c. Combination of USS + AFP  detects 90% of cases 5. Treatment a. Supportive 6. Complication a. Supportive i. Infants have significant risk of hypothermia, and exposed viscera should be wrapped in clear plastic wrap to prevent evaporative heat loss b. Surgery i. Returning the bowel to the peritoneal cavity and repairing the defect ii. Reduction = primary vs staged (silo) iii. Closure = operative vs non-operative iv. After surgical repair the bowel may take many weeks to function normally (often long term issues) 7. Outcome a. Overall survival 90% b. 10% of cases are complex

Answer 9

1. Key points a. Diaphragmatic hernia = communication between the abdominal and thoracic cavities with or without abdominal contents in the thorax b. Most commonly congenital c. Visceral herniation occurs during critical period of lung development (bronchi + pulmonary arteries undergoing branching); from week 3 to 16 d. Classification i. Hiatal = esophageal hiatus ii. Paraesophageal = adjacent to hiatus iii. Retrosternal = Morgagni iv. Posterolateral = Bochdalek  referred to as CDH 1. 80-90% occur on left side e. Associated anomalies = Up to 30% of cases – CNS, esophageal atresia, omphalocele, CV lesions f. Associated syndromes = T21, 18, 13, Fryns, Brachmann-de Lange, Pallister-Killian, Turner 2. Epidemiology a. 1/2000 to 1/5000 births b. Females affected twice as common

Answer 10

3. Clinical presentation a. Neonatal i. Respiratory distress ii. Scaphoid abdomen*** and increased chest wall diameter iii. Bowel sounds may be audible in the chest iv. Maximal cardiac impulse deviated away from hernia b. Childhood i. Rarely present beyond ii. May present with vomiting as a result of intestinal obstruction or mild respiratory symptoms 4. Consequences b. Pulmonary hypoplasia i. Major limiting factor for survival iii. The resulting pulmonary hypoplasia results in severe respiratory distress within minutes of birth and in some neonates is not compatible with long term survival iv. The more severe the lung hypoplasia, the earlier the neonate becomes symptomatic + the poorer the prognosis c. Malrotation d. Cardiac dextroposition 5. Investigations a. Antenatally with U/S i. Diagnosed on prenatal USS between 16-24 weeks gestation in >15% of cases ii. USS findings = polyhydramnios, chest mass, mediastinal shift, gastric bubble, liver in thoracic cavity, fetal hydrops b. CXR at birth i. Loops of bowel in the left thoracic cavity ii. Heart displaced to the contralateral side

Answer 11

6. Treatment a. Intubation + ventilation i. Bag + mask ventilation may exacerbate respiratory distress by distending the bowel ii. Volutrauma is a significant problem v. HFOV can be used early to prevent lung injury b. Decompression of bowel with NG tube c. CXR + Echo d. Treat pulmonary HTN = PG, iNO, sildenafil (want PDA open) e. ECMO = used in neonates who failed conventional ventilation or HFOV f. Operative repair i. Ideal time to repair debatable – most wait 48 hours after stabilisation and resolution of pulmonary hypertension 7. Outcome a. Overall survival 67% b. Spontaneous fetal demise 7-10% 8. Long-term complications a. Pulmonary = major source of morbidity for long-term survivors i. Chronic lung disease + respiratory infections b. Gastro-esophageal reflux disease = >50% i. More common in those whose defect involves the esophageal hiatus c. Intestinal obstruction = 20% d. Recurrent hernia = 5-20% i. Highest risk in those with a patch e. Delayed growth in first 2 years of life f. Neurocognitive defects (inc risk with ECMO) g. Pectus excavatum + scoliosis

Answer 12

• Elevation of a portion of the diaphragm that is intact, but thinned due to incomplete muscularisation o Results in paradoxical motion of the affected hemidiaphragm o May form a ‘sac’ that contains the abdominal contents and is displaced into the thorax • Most asymptomatic and do not require repair • Although severe diaphragmatic eventration can be associated with pulmonary hypoplasia and respiratory distress during infancy, the presence of a sac is generally associated with a better prognosis than classical CDH • Nelsons: congenital eventration may affect lung development but it has not been associated with pulmonary hypoplasia

Answer 13

1. Definition a. Represents failure of the oesophagus to develop as a continuous passage, instead develops as a blind pouch b. Congenital abnormality in which the mid-portion of the esophagus is missing c. In most there is an abnormal communication between the trachea and the lower esophageal segment, called a distal tracheo-esopahgeal fistula 2. Associated abnormalities a. 50% of infants have other congenital abnormalities i. VACTERL association – vertebral, anal, cardiac, renal and limb abnormalities b. Major chromosomal abnormalities seen in 5% - trisomy 18, trisomy 21 3. Clinical presentation a. Polyhydramnios – occurs in 2/3 of pregnancies ii. Absent stomach (PPV 55%) b. Symptomatic immediately after birth i. Secretions causing drooling, choking and respiratory distress (+/- desaturation) ii. Inability to feed 4. Investigations a. Pass large, firm catheter (10Fr) through the mouth - cannot be passed more than 10cm from the gums b. X-ray torso i. Gas in the bowel = distal tracheo-esophageal fistula ii. Absent gas = esophageal atresia OR esophageal atresia with proximal fistula 5. Treatment a. Regular suctioning of upper esophageal pouch to prevent aspiration b. Tracheo-esophageal fistula divided c. Esophageal ends are anastamosed at time of surgery to close fistula

Answer 14

1. Key points a. Represents an abnormal opening between the trachea and oesophagus b. Common congenital abnormality c. Incidence of 1 in 3500 to 1 in 4500 live births d. Type C – proximal esophageal pouch and distal TEF = most common e. Pure esophageal atresia second most common 3. Associated conditions a. VACTERL (require 3 to be VACTERL – ‘TE’ = 1) b. CHARGE, T21, T18, T13 c. Goldenhar, Feingold, many others d. Congenital heart defects e. Genitourinary defects

Answer 15

4. Clinical manifestations a. Dependent on presence or absence of esophageal atresia b. Features include i. Vomiting, coughing, gagging ii. Cyanosis with feeds iii. Respiratory distress iv. Recurrent pneumonia v. Frothy bubbles of mucous in mouth and nose c. Presence of esophageal atresia i. Polyhydramnios occurs in 2/3 of pregnancies ii. Symptomatic immediately after birth with excessive secretions  drooling, choking, respiratory distress, inability to feed iii. Fistula between the trachea and distal esophagus  gastric distension iv. Reflux of gastric contents through the tracheo-esophageal fistula  aspiration pneumonia d. H type tracheo-esophageal fistula i. May present early if defect large – coughing and choking associated with feeding as milk is aspirated through the fistula ii. Smaller defects – may not be symptomatic in the newborn period 1. Prolonged history of mild respiratory distress associated with feeds 2. Recurrent episodes of pneumonia 5. Diagnosis a. Attempt to pass catheter into the stomach – cannot be passed further than 10-15 cm b. Distal tracheo-esophageal fistula – gas filled gastrointestinal tract c. Investigations = for VACTERL/syndrome Ix i. CXR = vertebral bodies, ribs, cardiac silhouette ii. Thymus = 22q11.2 iii. Echo iv. Renal USS v. Spinal USS + head USS as indicated

Answer 16

6. Treatment a. Pre-operative i. Respiratory support ii. Beware gastric dilatation with respiratory support iii. Upper pouch drainage (suction, repogyle) b. Operative 7. Complications a. Pneumonia b. Sepsis c. Reactive airway disease d. Following repair i. Esophageal stenosis + strictures ii. GERD iii. Poor swallowing – dysphagia, regurgitation e. PURE esophageal atresia has the worst prognosis

Answer 17

1. Key points a. Hypertrophy of the circumferential muscle layer of the pyloric sphincter leading to gastric outlet obstruction b. Occurs in 2 to 3.5 per 1000 live births c. Hyperbilirubinaemia occurs in 15% 2. Risk factors a. More common in first born males (males to females 4:1) b. Tracheoesophageal fistula c. Maternal history of pyloric stenosis d. Maternal smoking e. Macrolide antibiotics (azithromycin, erythromycin)

Answer 18

3. Clinical presentation a. Presents between age of 2 and 6 weeks of age b. Symptoms i. Nonbilious emesis ii. Projectile vomiting after most or all feeds iii. Malnutrition and dehydration iv. Hunger after feeding v. Failure to thrive, weight loss, constipation, decreased stooling vi. May have prolonged jaundice c. Signs i. Dehydrated, scrawny infant ii. Palpable olive shaped, mobile, non-tender epigastric mass/RUQ iii. Visible peristalsis – from L) costal margin to the R) hypochrondrium visible long after the last feed 4. Metabolic complications = hypochloraemic hypokalaemic metabolic alkalosis a. Vomiting in these infants results in loss of gastric water (water + HCl) i. The kidneys initially conserve H+, but once the baby becomes dehydrated, water and Na+ are conserved in exchange for K+ and H+ ii. Results in hypovolaemia with alkalosis, low chloride and potassium iii. Even if serum K+ is normal, there is total body potassium deficiency b. Metabolic alkalosis is only present in significant cases c. Inappropriate rehydration with low sodium containing fluids can result in cerebral edema d. Urinary excretion of H and K to preserve Na and fluid

Answer 19

5. Investigations a. USS = procedure of choice – sensitivity and specificity >95% i. Hypertrophied pylorus; only required if the pyloric tumour cannot be felt [diagnostic] ii. Length channel >16mm, muscle thickness >4mm, diameter <12mm iii. ‘Target sign’ on transverse view iv. Lack of passage of milk through the pyloric stenosis b. ABG required – Hypochloraemic hypokalaemic metabolic alkalosis 6. Treatment a. Supportive i. Resuscitation ii. Correction of dehydration and acid-base/ electrolyte abnormality 1. Resuscitation = 20 m/kg 0.9% N saline bolus 2. Maintenance = 0.9% N Saline + dextrose a. Potassium should be added once the baby is passing urine 3. Replacement = 0.9% N saline + 20 mmol KCl at ml:ml gastric losses 2 hourly iii. No ‘comfort feeds’ iv. NGT optional b. Surgical - after stabilisation/rehydration ii. Pyloromyotomy - divide the hypertrophied muscle down to, but not including, the mucosa iii. Post-op = ALL vomit post-op; start low volume feeds at 6h post-op 1. Discharge once on full feeds

Answer 20

1. Key points a. < 1% of all atresias and diaphragms of the alimentary tract b. Associated with epidermolysis bullosa c. M=F 2. Clinical manifestations a. Presents on D1 of life b. Non bilious vomiting c. Feeding difficulties d. Abdominal distension e. Large volume gastric aspirates 3. Investigations a. AXR: large dilated stomach b. Upper GI contrast series are diagnostic c. Endoscopy may be required to identify antral webs 4. Management a. Fluids and alkalosis b. NG decompression c. Surgical/ endoscopic repair

Answer 21

1. Key points a. Anomaly of fetal intestinal development b. 1/6000 newborns 2. Pathogenesis a. Congenital malrotation of the midgut results in abnormal positioning of the small intestine (caecum in RUQ) + formation of fibrous bands (Ladd’s bands) b. Abnormalities i. The 1st and 2nd portions of the duodenum are in their normal position, but the remainder of the duodenum, jejunum, and ileum occupy the right side of the abdomen and the colon is located on the left ii. The most common type of malrotation involves failure of the cecum to move into the right lower quadrant -> cecum is abnormally positioned in the right upper quadrant, and is fixated to the right lateral abdominal wall by bands of peritoneum c. Consequences i. The mesentery, including the superior mesenteric artery, is tethered by a narrow stalk, which can twist around itself and produce a midgut volvulus ii. Bands of tissue (Ladd bands) can extend from the cecum to the right upper quadrant, crossing, and possibly obstructing, the duodenum 3. Associated anomalies a. CDH b. Major congenital cardiac anomalies – heterotaxia c. Abdominal wall defects – omphalocele, gastroschisis, prune belly syndrome d. Intestinal atresias e. Esophageal atresia f. Biliary atresia g. Meckel’s diverticulum h. Complex anorectal malformation i. Cornelia de Lange syndrome

Answer 22

4. Presentation a. Majority (50%) present within 1 month to 1 year  present by 1 month (30%), 1 year (60%), and 5 years (75%) b. Usually presents in the first 1-3 days of life with intestinal obstruction from Ladd bands obstructing the duodenum or a volvulus c. May present at any age with volvulus causing obstruction and ischaemic bowel i. Vomiting, typically bilious ii. Haemodynamic instability iii. Abdominal distension + tenderness iv. Peritonitis e. 80% experience symptoms in first 2 months of life 5. Clinical manifestations a. Acute small bowel obstruction + ischaemia b. Bilious emesis c. Crampy abdominal pain d. Distension – may not be seen early in the disease process e. Passage of blood or mucous 6. Investigations a. AXR i. ‘bird-beak’ appearance and air fluid level ii. Gastric and proximal duodenal dilation iii. Paucity of gas in the small intestine iv. Double bubble (rare) b. Upper GI contrast study (barium meal)  diagnostic i. Normal rotation indicated by the duodenal C loop crossing the midline and the duodenojejunal junction located to the LEFT of the spine

Answer 23

7. Treatment a. Supportive i. NG tube insertion to decompress intestine ii. IV hydration iii. Correction of electrolyte abnormality b. Surgery iii. Appendix removed – avoid diagnostic confusion in event the child subsequently has symptoms suggestive of appendicitis c. Asymptomatic i. Evidence lacking on best approach to asymptomatic malrotation 8. Outcome + complications a. Short gut syndrome b. Small bowel obstruction

Answer 24

* Intestinal atresia is one of the most frequent causes of bowel obstruction in the newborn * Duodenal most common (25-50% depending on source) * 20% are associated with chromosomal anomalies * Ileal atresia tends to be an isolated lesion * Colonic atresia is extremely rare

Answer 25

1. Key points a. 30% of infants with duodenal atresia have a chromosomal anomaly – primarily T21 b. Atresias of the duodenum are often multiple 2. Risk factors a. Premature birth – 50% of infants with duodenal atresia b. Chromosomal anomalies – 50% (T21) 3. Associated anomalies a. Congenital heart disease 30% b. Malrotation 20-30% c. Annular pancreas 30% d. Renal anomalies 5-15% e. Esophageal atresia +/- TOF 5-10% f. Skeletal malformations 5% g. Anorectal anomalies 5% 5. Clinical presentation a. Proximal bowel obstruction -> bile stained vomiting if atresia distal to bile duct [most common] – almost immediately b. NO abdominal distension c. Dehydration 6. Investigations a. Prenatal i. Polyhydramnios – occurs in 50% ii. Sonographic double bubble b. AXR = air fluid levels on upright film; ‘double bubble’ sign (dilated stomach and duodenum) i. Little or no gas visible distal to obstruction c. Contrast study = exclude malrotation and volvulus i. Must be excluded as intestinal infarction can occur within 6-12 hours if not detected 7. Treatment a. NG tube decompression b. Screening for other congenital anomalies – echo, renal tract USS, CXR, spine X-ray c. Correct metabolic abnormalities d. Surgical correction (duodenoduodenostomy)

Answer 26

1. Key points a. Results in distal obstruction b. LESS likely to be detected in utero 4. Clinical manifestations a. Abdominal distension – rarely present at birth b. Often develops rapidly after initiation of feeds c. Bilious vomiting d. 80% fail to pass meconium e. 20-30% jaundice 5. Investigations a. Prenatal USS i. Polyhydramnios in 20-35% ii. May be first sign of obstruction b. AXR i. Multiple air-fluid levels proximal to the obstruction in the upper right or lateral decubitus positions c. Contrast study i. Water soluble enema = differentiate atresia from meconium ileus and Hirschsprung disease 1. Small microcolon suggests disuse and the presence of obstruction PROXIMAL to the ileocecal valve 6. Treatment a. Surgery i. Resection of dilated proximal portion of bowel followed by end to end anastomosis

Answer 27

1. Key points a. Obstruction of the small intestine at the level of the terminal ileum with Inspissated meconium b. 10% of patients with CF present with meconium ileus c. ‘Complex’ = complicated by intestinal perforation, meconium peritonitis, atresia or volvulus i. Prenatal perforation may cause meconium peritonitis which can cause calcifications visible on abdominal X-ray d. Infants with MI at increased risk of cholestasis e. 50% have associated intestinal atresia, stenosis or volvulus requiring surgery 4. Clinical presentation a. Abdominal distension b. Failure to pass meconium c. Vomiting 5. Investigations a. AXR = dilated loops, perforation, calcification i. Hazy or ground glass appearance in right lower quadrant (gas + calcification) b. Contrast enema 6. Treatment a. NG to decompress b. Correction of electrolyte abnormalities c. Non-operative management = hyperosmolar enema (N-acetylcysteine) i. 50% do NOT respond and require laparotomy d. Operative management = complicated MI and simple MI not responsive to non-operative management

Answer 28

1. Key points a. Single intestinal perforation typically found at the terminal ileum 2. Risk factors a. Primarily in preterm, very low birth weight (VLBW, birth weight <1500 g) infants 3. Clinical manifestations a. Presents within the first 10 days of life as an acute onset of abdominal distension and hypotension b. Classic examination finding = black-bluish discoloration of the abdominal wall, may extend to groin and scrotum 4. Investigations a. AXR i. Films – supine position and supine cross-table lateral view/lateral decubitus position with the left side down (detect pneumoperitoneum) ii. Suggestive – pneumoperitoneum without pneumatosis 5. Differential diagnosis a. NEC – abdominal wall erythema, crepitus, and induration i. Features not usually present in infants with SIP 6. Treatment a. Primary peritoneal drainage b. Bowel resection 7. Outcome a. Survival rates of 65-90%

Answer 29

1. Key points a. Most common gastrointestinal emergency, 1-5% of infants in NICU b. Accounts for substantial long-term morbidity in survivors of neonatal intensive care c. Epidemics may occur in a neonatal unit associated with Klebsiella, E. coli, Clostridium, Rotavirus 2. Risk factors a. VLBW + prematurity - >90% of cases occur in VLBW infants (BW <1500g) born at <32 weeks GA i. Incidence of NEC decreases with increasing gestational age ii. 13% occurs in term infants  usually in the setting of an underlying condition e.g. sepsis/CVS a. Oher risk factors i. Non-human milk feeding = formula increases risk of NEC 1. Delay in initiating feeds + trophic feeds DOES NOT  risk NEC 2. No evidence that fortification increases NEC Protective factors a. Probiotics b. Breast milk c. Antenatal steroids 4. Pathogenesis a. Ischaemic necrosis of the intestinal mucosa with inflammation, invasion of enteric gas forming organisms, dissection of gas into the muscularis and portal venous system

Answer 30

``` 5. Clinical presentation Gastrointestinal • Abdominal distension + tenderness • Sudden change in feeding tolerance • Delayed gastric emptying • Vomiting • Occult/gross blood in stool • Change in stool pattern/ diarrhoea • Abdominal mass, distended loops • Erythema of abdominal wall Systemic • Lethargy • Apnoea/ respiratory distress • Temperature instability • Acidosis (metabolic or respiratory) • Glucose instability • Poor perfusion/ shock • DIC, +ve blood culture ``` 6. Staging - 1A = suspected based on systemic+abdominal signs + imaging - 1B = as for 1A, + blood in stool - 2A = definite, mildly ill, as above+ absent bowel sounds, + pneumotosis intestinalis - 2B = as for 2A + moderately ill (mild metabolic acidosis or thrombocytopenia), plus ascites - 3A = advanced severely ill but intact bowel - 3B = perforated bowel

Answer 31

7. Investigations a. Bloods i. Anaemia ii. Neutropenia iii. Thrombocytopenia*** – dropping platelets associated with disease progression iv. Evidence of DIC v. Blood culture +ve b. AXR i. Dilated loops of bowel consistent with ileus ii. Pneumatosis intestinalis*** (hallmark of NEC) = bubbles of gas in the small bowel wall iii. Pneumoperitoneum = occurs with perforation; gas outlining both sides of the bowel wall v. Portal venous gas c. Contrast enema NOT recommended 8. DDx a. Infectious enterocolitis b. Spontaneous intestinal perforation = absence of pneumatosis intestinalis and clinical findings of hypotension and abdominal distension, along with bluish discolouration of abdominal wall (cf. wall erythema, crepitus, induration of NEC); ONLY occurs in extremely and very preterm infants within first week of life c. Anatomic or functional conditions causing intestinal obstruction + enterocolitis eg. Hirschsprung disease, ileal atresia, volvulus, meconium ileus + intussusception d. Anal fissures e. Neonatal appendicitis

Answer 32

a. Supportive + medical i. Bowel rest = discontinuation of enteral intake ii. Gastric decompression with intermittent NG suction iii. Parenteral nutrition iv. Correction of metabolic abnormalities v. Stabilisation of cardiac + respiratory function vi. Antibiotic therapy b. Surgical i. 20-50% ii. Indications 1. Intestinal perforation 2. Abdominal mass 3. Unremitting clinical deterioration despite medical management – suggests extensive and irreversible necrosis iii. Ileostomy - closure at 4-6 weeks with contrast study prior iv. Complications 1. Early = wound infection, dehiscence, stomal problems 2. Late = strictures (10%) v. Long-term = short bowel syndrome 1. SB at term = 248 cm +/- 40cm – doubles in third trimester 2. Continues to grow and adapt until 3-4 years of age 3. After resection small bowel adapts a. Mucosal hyperplasia, Villous lengthening, Increase crypt length, Bowel dilatation 4. How much is enough? a. >25cm with ileocaecal valve b. >40cm without ileocaecal valve 5. Predictors of outcome a. Residual length b. % of calories tolerated by enteral route at 12 weeks corrected age c. Presence of ileocaecal valve

Answer 33

10. Prognosis a. Medical Mx fails in 20-30% of patients with pneumatosis intestinalis at diagnosis – of these 10-30% die b. 70-80% survival c. Risk of death increases with decreasing gestational age d. 50% normal 11. Complications a. Acute i. Infectious = sepsis, meningitis, peritonitis, abscess formation ii. DIC iii. Respiratory and or cardiovascular complications iv. Metabolic complications b. Late i. Gastrointestinal = short bowel syndrome, intestinal strictures (highest risk), loose bowel actions ii. Impaired growth iii. Neurodevelopmental outcome

Answer 34

a. Evidence supports i. Antenatal corticosteroids, primarily used to reduce the risk of neonatal respiratory distress syndrome ii. Human milk versus non-human milk feeds iii. Avoiding unnecessary and prolonged antibiotic use iv. Probiotics = shown in a number of studies to be effective in preventing NEC; however lack of established regimen of optimum strain and dosing 1. Non-pathogenic bacteria which normally reside in the bowel (eg. lactobacllius) 2. Also evidence that probiotics reduce neonatal mortality and late-onset sepsis b. Other measures used for prevention i. Use of a standardized feeding protocol ii. Avoidance of agents that reduce gastric acidity (eg, histamine 2 [H2] blockers) iii. Avoidance of hyperosmolar agents iv. Treatment of polycythemia v. Delayed cord clamping c. No evidence = Ig, nutritional supplements, lactoferrin, human milk oligosaccharides

Answer 35

1. Key points a. Congenital lack of ganglion cells in the myenteric and submucosal plexus of the distal colon b. Abnormal bowel extends from the rectum for a variable distance proximally, ending with a normally innervated, dilated colon i. 80% = confined to rectosigmoid ii. 15-20% = extends proximal to the sigmoid colon iii. 5% = entire colon (long-segment) d. Aganglionic section = narrow, contracted segment e. Bowel proximal to aganglionic section = dilated and hypertrophy f. Most common cause of neonatal bowel obstruction 2. Epidemiology a. 1/5000 3. Aetiology a. Genetics b. Associated syndromes i. T21 ii. Bardet-Biedl syndrome iii. Cartilage-hair hypoplasia iv. Congenital central hypoventilation syndrome (CCHS) v. Familial dysautonomia vi. MEN2 viii. Smith-Lemli-Opitz syndrome ix. Waardenburg syndrome c. Other congenital abnormalities i. 20-25% of patients with HD have associated congenital anomalies - not always explained by syndromes above 1. CAKUT 2. Visual and hearing impairment 3. CHD – 50% of individuals with syndromic HD (usually T21); unusual in patients without a syndrome 4. Anorectal malformations

Answer 36

4. Clinical manifestations a. Neonate i. Failure to pass meconium within 48 hours – by 48 hours of life 100% of normal full-term neonates will pass meconium or stool ii. Bilious vomiting iii. Abdominal distension iv. Failure to thrive v. Enterocolitis – sepsis like presentation with fever, vomiting, diarrhoea, abdominal distension; can progress to toxic megacolon vi. Examination 1. Abdominal distension 2. Empty rectum 3. Narrowed segment and with withdrawal of the examining finger often releases a gush of liquid stool and flatus (squirt/ blast sign) 4. Abnormal sphincter tone b. Child i. Approx 10% diagnosed during childhood ii. Constipation since birth and abdominal distension, not responsive to laxatives iii. No overflow iv. May have history of delayed meconium v. Usually those with shorter segment affected vi. FTT, tight anal sphincter with an empty rectum, forceful expulsion of faecal material 5. Investigations a. AXR = distended bowel loops with a paucity of air in the rectum b. Barium enema = narrowed distal colon with proximal dilation d. Rectal biopsy (done via suction rectal biopsy) = confirms diagnosis and reveals absence of myenteric plexus and submucosal plexus along with hypertrophied nerve trunks enhanced with acetylcholinesterase stain

Answer 37

6. Treatment a. Surgery i. Excision of aganglionic segment ii. Anastomosing ganglionated bowel to the anus iii. Creation of a diverting colostomy at the time of diagnosis iv. ‘Pull through’ procedure connecting remaining colon to the rectum 7. Complications a. Enterocolitis b. Toxic megacolon + perforation 8. Outcome a. Constipation = 30% b. Enterocolitis = 45% i. Risk increased in patients with anastomotic stricture and long-segment disease c. Incontinence i. Diarrhoea common early in post-operative period but improves ii. 75-95% of patients achieve a stool frequency of 5 or less per day

Answer 38

1. Key points a. Disorders of peristalsis due to neuropathy / myopathy b. Congenital neuronal disease: i. Disorganized ganglia, hypo or hyperganglionosis ii. Disorders of the interstitial cells of Cajal ( gut ‘pacemaker’) 2. Clinical features a. Sx within first few months of life b. Abdominal distension + vomiting c. Constipation d. Growth failure e. Abdominal pain f. 80% have urinary tract/ bladder involvement 3. Investigations a. AXR: air fluid levels, microcolon seen in neonates b. Contrast studies c. Esophageal motility studies often abnormal – decreased LES pressure, failure of LES relaxation. Body has low amplitude waves, poor propagation. Retrograde or aperistalsis 4. Treatment a. Nutritional support (30-50% require parenteral nutrition) b. Prokinetic drugs can be trialed

Answer 39

1. Key points a. Complex congenital anomaly b. Normal position of the anus on the perineum is halfway between the coccyx and the scrotum or introitus 2. Associated anomalies a. Many associated anomalies – renal tract most common b. VACTERL association common c. Genitourinary = reflux, renal agenesis, renal dysplasia, ureteral duplication, cryptorchidism, hypospadias d. Vertebral = spinal dysraphism, tethered cord, presacral masses, meningocele, lipoma, dermoid, teratoma e. Cardiovascular = TF, VSD, TGA, HLHS f. Gastrointestinal = TOF, duodenal atresia, malrotation, Hirschsprung disease g. CNS = spina bifida, tethered cord 3. Classification a. Low lesions = rectum continues beyond the pelvic levator ani musculature i. Have a fistulous communication with the skin as an anocutaneous fistula ii. May be a ‘covered anus’ – after 24 hour a meconium bulge may be seen, creating a blue black appearance iii. Treatment = cutback anoplasty performed as a neonate b. High lesions = rectum stops at or above the pelvic levator ani musculature i. Tend to be more complicated and are more likely associated with other congenital abnormalities (especially the urinary tract) ii. Male = either no opening at all or the rectum communicates with the urinary tract via a rectourethral or rectovesical fistula iii. Female = rectum usually communicates with the vestibule or vagina as a rectovestibular or rectovaginal fistula respectively iv. Treatment 1. Require anorectoplasty – considerably more complicated procedure 2. Performed either at birth or as a staged procedure later 4. Treatment a. Dilatation b. Minor perineal procedure to perforate the skin – if <1cm from the skin c. Posterior sagittal anorectoplasty (PSARP) = definitive repair of high lesion 5. Outcome a. Total continence most likely in those with low lesions b. May require long-term colostomy to achieve social continence c. Antegrade continence enema (ACE) sometimes done to manage constipation

Answer 40

* Common * Most resolve * Skin covered * Often increase in size to 6 months * 9/10 resolve without surgery before 2-3 years * An USS never helpful * Refer if >2-3 years of age – syndromic earlier (Hurler), supraumbilical earlier

Answer 41

• Discharge from the umbilicus may be pus, mucous, faeces or urine • Umbilical granuloma o Common lesion o First becomes evident after the separation of the umbilical cord o Small accumulation of granulation tissue in the umbilicus, accompanied by a seropurulent discharge o If it has a definite stalk it can be ligated without anaesthesia, but most often it is treated by topical application of silver nitrate • Ectopic bowel mucosa o Similar appearance but has a smooth, red, glistening surface and discharges mucous o Topical application of silver nitrate in patients with ectopic bowel mucosa is typically less effective than in those with an umbilical granuloma • Persistence of part or all of the vitellointestinal (omphalomesenteric duct) o Number of abnormalities o Usually present in early infancy but may not become evident for some years o Complete patency of the duct – allows ileal fluid and air to discharge from the umbilicus o A Meckel’s diverticulum represents persistence of the ileal part of the duct • Patent urachus o Urinary discharge suggests persistent communication with the bladder – patent urachus o Should be excised

Answer 42

1. Epidemiology a. Most common cause of acute abdo pain after 5 years of age b. Rare in children <5 years 2. Clinical presentation a. Diagnosis is straightforward if there is localised peritonitis with guarding in the RIF b. Symptoms i. Anorexia, N+V ii. Abdominal pain – initially central and colicky, then localising to the RIF iii. Loose stool c. Signs i. Flushed face with oral fetor ii. Low grade fever iii. Abdominal pain aggravated by movement eg. walking, coughing, jumping, bumps on the road during car iv. Persistent tenderness with guarding in the RIF (McBurney’s point) + percussion tenderness v. Peritonitis – generalised abdominal tenderness, guarding + reluctance to move vi. Rebound tenderness UNRELIABLE sign in children + should not attempt to elicit vii. Bowel sounds – normal or reduced, do not aid in diagnosis 3. Differences in presentation a. ‘Classical’ = periumbilical pain -> R iliac fossa b. Retrocaecal i. Vague non-localizing RIF pain with deep RIF tenderness; often WITHOUT guarding ii. Key DDx = mesenteric adenitis c. Pelvic appendicitis i. Lower abdo pain and tenderness ii. Urinary symptoms iii. Small volume diarrhoea iv. Key DDx = gastroenteritis d. Perforated appendix i. Generalised peritonitis ii. Risk of perforation greater in children (communication difficult, less omental localization, assumed to be viral illness)

Answer 43

a. Urinary tract infection = exclude via urine testing i. Blood, protein and white cells may all be present in the urine in acute appendicitis ii. Nitrites are more specific for urinary tract infections b. Gastrointestinal infections i. Often produce local ileus but no peritonitis ii. Frequently distinguished by ‘squelchiness’ (secondary to air and fluid) in the right iliac fossa on examination c. Mesenteric adenitis – localised pain and tenderness is variable and less specific, and temperature may be higher i. Guarding is rarely present in mesenteric lymphadenitis d. Meckel diverticulitis – identical symptoms, differentiation ONLY possible at laparoscopy or laparotomy e. Torsion of testicle f. Strangulated inguinal hernia g. Right LL pneumonia –masquerade; febrile, increased RR, cough – signs difficult clinically, may require CXR h. Other i. Renan colic, pyelonephritis ii. HSP – abdo pain is often severe and colicky, may be accompanied by vomiting; characteristic lesions over the buttock and legs may be inconspicuous or absent when the child is first examined iii. Sickle cell anaemia – consider in pale child w/ splenomegaly iv. CF - fecal impaction i. Less common i. HUS, diabetes (DKA), ovarian torsion 1. Ovarian torsion = extreme pain, vomit ii. Acute hepatitis, cholecystitis + pancreatitis (rare in children)

Answer 44

5. Investigations a. FBE = neutrophilia not always present b. Plain AXR c. Abdominal U/S = thickened, non-compressible appendix with increased blood flow i. Also shows complications such as abscess, perforation or appendix mass d. CT – no role routinely 6. Treatment a. CORRECT dehydration + electrolyte disturbance first i. Replace half deficit BEFORE theatre b. Appendicectomy 7. Complications a. Appendix mass b. Abscess c. Perforation - if there is generalised guarding consistent with perforation, fluid resuscitation and IV antibiotics are given prior to laparotomy

Answer 45

* Non-specific abdominal pain (NSAP) is abdominal pain which resolves in 24-48 hours * The pain is less severe than in appendicitis, and tenderness in the right iliac fossa is variable * Often accompanied by URTI with cervical lymphadenopathy * In some children, abdominal signs do not resolve and appendicectomy is performed * The diagnosis of mesenteric adenitis can only be made definitively in those children in whom large mesenteric nodes are seen at laparotomy or laparoscopy whose appendix is normal

Answer 46

1. Definition + epidemiology a. Caused by failure of the omphalomesenteric duct (vitello-intestinal duct) to obliterate  heterotopic gastric tissue (pancreatic + gastric) b. Rule of 2’s i. Most common in children under 2 ii. 2 times more common in males iii. Contains 2 types of tissue (pancreatic + gastric) iv. 2 inches long v. Found within 2 feet of the ileocaecal valve vi. Occurs in 2% of the population 2. Presentation/ Complications a. Asymptomatic b. Rectal bleeding – usually painless c. Intestinal obstruction d. Diverticulitis (mimics acute appendicitis) e. Volvulus f. Intussusception 3. Investigations a. Meckel scintigraphy = detects ectopic gastric tissue b. AXR = not that helpful 4. Treatment a. Surgery = excision of the diverticulum together with adjacent ileum (ulcers frequently develop in adjacent ileum)

Answer 47

1. Key points a. Invagination/telescoping of a proximal bowel into a distal segment b. Most commonly involves the ileum passing into the caecum through the ileocaecal valve c. Most common cause of bowel obstruction in the first 2 years of life (males > females) d. Usually seen between 3 months and 2 years of age i. 80% of cases occur in <2 years e. Male: female ratio 3:1 2. Risk factors a. Conditions with potential lead points increase risk b. 90% idiopathic c. Pathological lead points more common in children >2 years – the older the child the more likely they are to have a pathological lead point (e.g. Meckels, polyps, HSP, CF) d. Inflamed Peyer’s patches 3. Pathogenesis a. Bowel obstruction b. Bowel ischaemia  necrosis  perforation

Answer 48

4. Clinical presentation (classic tried = paroxysmal abdominal pain, palpable sausage shaped mass, red currant jelly stool - 30%) a. Symptoms i. Usually pale and in shock – dry, listless, ‘cooperative’ ii. Abrupt onset, colicky abdominal pain 1. Spasms of pain in which the infant becomes pale and may draw up the legs; lasts 2-3 minutes 2. Pain spasms occur at intervals of 10-20 minutes 3. After a while the pain becomes more persistent iii. Vomiting (may become bile-stained depending on site of intussusception) iv. Anorexia v. Lethargy/ pallor vi. Passage of a few loose stools – represents evacuation of the bowel distal to the obstruction vii. Bloody mucous in stool (‘currant jelly stool’)  feature of advanced disease (60%) viii. Well in between episodes if intussusception released b. Signs i. Appearance – pale, lethargic, anxious, unwell ii. Abdominal tenderness iii. Abdominal mass – difficult to palpate once distension has developed (60%) 1. Central, beneath the rectus abdominis on the right side; often difficult to feel 2. Palpable sausage shaped RUQ mass (may also be on LUQ) 3. Absence of bowel in RLQ (‘empty’ on palpation) 5. Differential diagnoses [in many PR bleeding is not a feature] a. Colic b. Gastroenteritis i. Volume and persistence of loose stools is main differentiating factor ii. No PR bleeding unless invasive organism iv. If doubt persists – U/S or gas/barium enema indicated c. Mesenteric adenitis d. Other causes of bowel obstruction i. Volvulus secondary to malrotation ii. Band from a Meckel diverticulum iii. Appendicitis if >18/12 iv. Duplication cyst v. Strangulated inguinal hernia

Answer 49

6. Investigations a. Bloods b. Imaging i. AXR = distended bowel and absence of gas in the distal colon or rectum ii. Ultrasound = confirm diagnosis ‘target sign’; sensitivity of 98-100% and specificity of 98% iii. Contrast enema = should NOT be used in the presence of peritonitis, significant dehydration or established bowel obstruction iv. Air contrast enema = not required to diagnose Intussuception, but as intervention 7. Treatment a. Supportive = analgesia, IV fluids (bolus N saline), correct electrolyte abnormalities, NG for decompression i. Cautious use of opiate analgesia – can result in vasodilation and shut down b. Treatment modalities i. Air contrast barium enema (rectal air insufflation) = diagnostic in >95%; curative in 75% 1. If unavailable barium enema under continuous fluoroscopic control alternative 2. Note spontaneous reduction occurs in 4-10% of patients ii. Surgery = indications 1. Enema reduction failed 2. Evidence of necrotic bowel (peritonitis, septicaemia) 3. Evidence of pathological lead point iii. Complications = bowel perforation (0.5-2.5% with hydrostatic or barium reduction, 0.1-0.2% with air) c. Simple vs. complex i. Simple = <48 hour Hx, no peritonitis, stable child  air enema reduction ii. Complicated = >48 hour Hx, peritonitis and/or septicaemia  laparotomy 8. Post-reduction a. 10% risk of recurrence – majority occur within 24 hours i. If multiple recurrences should consider pathological lead point

Answer 50

1. Key points a. Extrusion of some or all of the rectal mucosa through the external anal sphincter b. Almost always have predisposing condition c. Tends to occur in 2 and 3 year olds d. May spontaneously resolve 2. Predisposing conditions a. Increased intra-abdominal pressure b. Diarrhoeal disease c. CF d. Malnutrition e. Pelvic floor weakness 3. Clinical manifestations a. Dark red mass with or without mucous and blood extrudes from the rectum b. Usually painless 4. DDx a. Prolapse of benign rectal polyp (a benign hamartomatous lesion seen in children) b. Apex of an intussusception (the child would have other symptoms of intussusception) 5. Treatment a. Manual reduction b. Surgical reduction i. If occurs frequently or manual reduction fails ii. Emergency surgical reduction indicated if rectal prolapse cannot be manually reduced due to long-term complications c. Surgical correction i. Submucosal injection of sclerosing solution ii. Surgical procedure – rectopexy d. Treatment of underlying cause – constipation

Answer 51

1. Key points a. Most common disorder of sexual differentiation in boys b. Undescended testis has been arrested along its normal pathway of descent c. DSD should be suspected in a newborn phenotypic male with bilateral non-palpable testes as the child could be a virilized girl with CAH i. In a boy with mid-penile or proximal hypospadias and palpable UDT – DSD present in 15% ii. Risk is 50% if testis not palpable d. Maldescended = ectopic (femoral, parascrotal, peroneal etc) or undescended (line of testicular descent) 2. Epidemiology a. 4% of full-term males will have unilateral or bilateral undescended testis b. 30% of premature male infants have undescended testis i. Testicular descent occurs at 7-8 months of gestation c. Majority of congenital UDT descend spontaneously in first 3 months of life – due to testosterone surge during first 2 months d. By 6 months of age the incidence decrease to 0.8% e. Bilateral UDT in 10% of cases 4. Classification a. Retractile i. Testis can be manipulated into the bottom of the scrotum without tension, but subsequently retracts into the inguinal region pulled up by the cremasteric muscle ii. With age, the testis resides permanently in the scrotum b. Palpable i. Testis can be palpated in the groin but cannot be manipulated into the scrotum c. Impalpable i. No testis can be felt on detailed examination ii. Testis may be in the inguinal canal, intra-abdo or absent

Answer 52

5. Investigations a. Imaging is NOT indicated for non-palpable testes – lacks sensitivity and specificity to alter need for exploratory surgery b. Laparoscopy – Ix of choice for non-palpable testes; diagnostic and potentially therapeutic 6. Treatment a. Testicular descent may continue during early infancy and by 3 months of age the overall rate of cryptorchidism in boys is 1.5% b. Spontaneous descent will NOT occur after 4 months of age c. An assessment should be made by a paediatric surgeon between 3-6 months of life i. Orchidopexy done at 6-12 months of age ii. The later the testis brought down the more likely it is that there will be damage to spermatogenesis d. Palpable testis = stage 1 orchidopexy e. Impalpable testis = laparoscopy + 2 stage orchidopexy i. 30% intra-abdominal, 45% absent, 25% missed palpable

Answer 53

a. Poor testicular growth b. Infertility i. Men with a history of UDT have increased incidence of lower sperm counts, sperm of poorer quality, and lower fertility rates ii. Thought to be partially reversible through early surgical intervention iii. Degree of germ-cell dysfunction increases with bilateral involvement and increasing duration of supra-scrotal location iv. After treatment of unilateral UDT 85% of patients fertile – slightly less than 90% fertility rate of population v. After treatment of bilateral UDT – 50-60% fertile c. Testicular malignancy i. Risk of germ cell malignancy is 0-2 (up to 4)x higher in UDT ii. Testicular tumours less common if orchidopexy preformed <10 years – still occur, adolescent should be instructed to self-examine iii. Most common tumour developing in UDT is seminoma iv. Orchiopexy reduces the risk of seminoma d. Associated hernia i. 90% of congenital true UDT have associated patent processus vaginalis e. Torsion of cryptorchid testis i. 10x more common in UDT than normal testes f. Psychological effects

Answer 54

* Some boys present with undescended testis later in childhood (4-10 years) * This is the result of failure of elongation of the spermatic cord with age, caused by persistence of a fibrous remnant of the processus vaginalis * Surgery is recommended, if the testis does not remain in the bottom of the scrotum, to optimise fertility

Answer 55

1. Inguinal hernia – if irreducible, irritable baby, tender lump in the groin, unable to get above it 2. Encysted hydrocele of the cord, unable to be reduced – well baby, mobile lump 3. Undescended testes 4. Lymphadenitis with abscess formation – rare condition

Answer 56

• Without surgical exploration, it is usually impossible to differentiate between 2 common causes 1. Torsion of the testis [more important] 2. Torsion of the testicular appendage [more common] • Three less common causes 1. Epididymo-orchitis 2. Idiopathic scrotal edema 3. Testicular malignancy – leukaemia, lymphoma, primary testicular neoplasm • Examination o Observation of the patients gait and resting position o Natural position of the testis in the scrotum while standing o Presence or absence of cremasteric reflex (this is absent in torsion) o Palpation of lower abdomen, inguinal canal and cord o Palpation of scrotum and contents, compare with unaffected hemiscrotum o Transillumination o Is the swelling reducible? • Investigations o Urine M/C/S o Bloods – not useful in the acute setting o Doppler US – NOT useful in an acute setting  However, colour Doppler flow ultrasound can assess anatomy and blood flow  Swelling and fluid collections can be localised  Once a testicular torsion and incarcerated hernia has been excluded by surgical consultation ultrasound may be considered if the diagnosis remains unclear.

Answer 57

1. Key points a. Occurs at any age, most common babies and adolescents b. Most common cause of testicular pain in boys age 12+ years – uncommon in children <10 years c. Caused by inadequate fixation of the testis within the scrotum, resulting from a redundant tunica vaginalis allowing excessive mobility – bell clapper deformity, often bilateral d. Exploration within 6 hours of torsion  90% of gonads survive e. If the degree of torsion is <360 the testis may have sufficient arterial flow to allow survival even after 24-48 hours 2. Pathogenesis a. Shortly after torsion occurs, venous congestion begins and subsequently arterial flow is interrupted b. The likelihood of testicular survival depends on the duration and severity of torsion c. Following 4-6 hours of absent blood flow to the testis irreversible loss of spermatogenesis can occur

Answer 58

3. Clinical manifestations a. Symptoms i. Painful, tender or red scrotum ii. Older children – severe pain and vomiting 1. Pain is not always centered on the scrotum but may be in the groin or lower abdomen iii. Atypical presentation is not unusual and the testes must always be examined whenever a boy or young man presents with inguinal or lower abdo pain of sudden onset iv. May be a history of self-limiting episodes v. Testis = lying horizontally in the scrotum indicates an anatomical predisposition to torsion and may cause intermittent testicular pain b. Signs i. Tenderness/swelling of testis and epididymis ii. Scrotal skin often red, edematous iii. May be high-riding, horizontal lie iv. +/- reactive hydrocele v. Absent cremasteric reflex 4. Investigations a. Clinical diagnosis b. U/S = UNRELIABLE in distinguishing between torsion of the testis and torsion of the testicular appendix i. Often delays critical operative treatment 5. Treatment a. MUST be resolved within 6-12 hours of the onset of symptoms for there to be a good chance of viability b. Surgical exploration is mandatory unless torsion can be excluded c. If torsion is confirmed fixation of contralateral testis is essential because there may be an anatomical predisposition to torsion (eg. ‘bell clapper’ testis where the testis is not anchored properly) d. If torsion is not confirmed fix the side that you have operated on e. If ischaemic (incise testes to assess for bleeding) then must be removed – particularly if pubertal (can develop anti-sperm Ab and cellulitis)

Answer 59

Results from incomplete fixation of the tunica vaginalis to the scrotal wall and is "extravaginal" If it occurs in utero the baby is born with a large, firm, nontender testis Usually the ipsilateral hemiscrotum is ecchymotic Testis usually not viable

Answer 60

1. Key points a. Most common cause of testicular pain in boys 2-10 years b. Rare in adolescents c. Appendix testis is a stalk-like structure that is a vestigial embryonic remnant of the mullerian ductal system that is attached to the upper pole of the testis 2. Clinical manifestations a. Early stage = blue-black ‘pea sized’ swelling which is extremely tender to touch may be seen through the skin of the scrotum near the upper pole of the testis i. Palpation of the testis itself causes no or little discomfort b. Later stage = hydrocele develops, the tenderness becomes more generalised i. Clinical features may make it difficult to distinguish from torsion of the testis 3. Treatment a. Natural history is for the inflammation to resolve in 3-10 days b. Non-operative treatment is recommended c. NSAID for 5/7 d. If diagnosis uncertain requires exploration

Answer 61

• Painless boggy edema of the whole scrotum and the testes are completely non-tender

Answer 62

1. Key points a. Rare disease in prepubertal boys who do not have urinary tract infections and should not be considered part of the initial differential diagnosis b. Usually <6 months, pubertal or abnormal renal tract – need patent vas deferens c. Unusual in children d. Most often seen during first year or life where it may signify an underlying structural abnormality of the genitourinary tract 2. Clinical presentation a. Testicular pain + swelling b. Fever c. Vomiting d. Urinary symptoms = frequency, dysuria 3. Investigations a. Urine M/C/S b. Identify underlying urinary tract abnormalities i. Renal U/S ii. Micturating cysto-urethrogram c. Adolescents with epididymo-orchitis should have a first-pass urine sample (ideally first morning urine) for chlamydia and gonococcus PCR 4. Treatment a. Analgesia b. Antibiotics i. Young infants or systemically unwell children should be admitted for IV antibiotics ii. Most patients can be successfully managed as out-patients, with co-trimoxazole

Answer 63

Epididymo-orchitis is the most common complication of mumps. Occurs in post pubertal males in 15-30% of cases. Symptoms occur 5-10 days after the onset of parotitis.

Answer 64

1. Key points a. Dilation and tortuosity of pampiniform plexus (varicosities of the testicular veins) b. Develop in boys around puberty c. Rarely diagnosed in children <10 years as varicocele becomes distended only after increased blood flow with puberty d. Predominantly involve LEFT side, bilateral in 2% e. Prevalence i. 15% of adult men ii. 5-15% of adolescents 2. Clinical presentation a. Asymptomatic in many cases b. Dragging, aching c. Not apparent when patient supine as decompressed – becomes prominent when patient standing and enlarges with a Valsalva maneuver 3. Complications a. Impaired testicular growth b. Infertility (later in life) = 10-15% of adult men with varicocele have sub-fertility i. Most common and only surgically correctable cause of sub-fertility in men 4. Treatment a. Obliteration of testicular veins = conventional surgery, laparoscopic, radiological b. Goal of treatment is to maximise fertility c. Indication i. Disparity in testicular size ii. Pain iii. Large varicocele (grade 3) d. Typically the involved testis enlarges and catches up with the normal testis over 1-2 years

Answer 65

1. Key points a. Hydrocele = accumulation of fluid in the tunica vaginalis b. 1-2% of neonates have hydrocele c. Non-communicative (processus vaginalis obliterated during development) -> disappears by 1 year of age d. Communicative (patent processus vaginalis) -> hydrocele persists and becomes progressively larger during the day and smaller in the morning 2. Pathophysiology a. The patent processus vaginalis is narrow and enables peritoneal fluid, but not abdominal contents, into the cord structures b. Patent processus vaginalis often closes on its own, in the first 18 months of life 3. Risk factors a. Infants <6 months b. Prematurity 4. Complications a. Inguinal hernia

Answer 66

5. Clinical manifestations a. Asymptomatic b. Clinical signs i. Brilliantly transilluminable ii. Narrow cord above the swelling 1. Upper limit of the hydrocele can be demonstrated distal to the external inguinal ring, distinguishing it from an inguinal hernia where the swelling extends through the external inguinal ring iii. Swelling does not empty on squeezing and a normal testicle is felt in it iv. Non-tender v. Often bilateral, sometimes bluish colour 6. Investigations a. Clinical diagnosis b. U/S – can confirm presence/ absence of normal testis  BUT do not normally need USS 7. Treatment a. Majority spontaneously remit as the processus continues to obliterate b. If a hydrocele persists beyond 2-3 years of age, surgery is recommended and an inguinal herniotomy (ie. division of patent processus vaginalis) is done as a day case

Answer 67

* Cystic lesion that contains sperm and is attached to the upper pole of the sexually mature testis * Usually painless and incidental finding

Answer 68

1. Epidemiology a. In children almost always indirect b. More frequent in boys (2% of infant boys) c. Particularly common in premature infants d. Greatest incidence in the 1st year of life e. More common on the R side 2. Pathophysiology a. After the testis has descended into the scrotum during the 7th month of pregnancy, the canal down which it migrates (the processus vaginalis) should obliterate b. Failure of obliteration of the processus vaginalis may produce an inguinal hernia, a hydrocele or an encysted hydrocele of the cord c. Hernia occurs when the patent processus vaginalis is large enough to allow bowel, omentum or ovary (in females) to protrude through the inguinal canal and sometimes, in males down to the scrotum

Answer 69

3. Clinical presentation a. Intermittent swelling in the groin or scrotum on crying or straining b. Unable to get above, not transilluminable c. Irreducible lump in groin or scrotum – lump is firm and tender i. The infant may be unwell with irritability and vomiting ii. Incarcerated = cannot be reduced iii. Strangulated = contents are ischaemic 4. Diagnosis a. Unless the hernia is observed as an inguinal swelling, diagnosis relies on the history and identification of thickening of the spermatic cord (or round ligament in girls) b. Groin swelling may become visible on raising intra-abdo pressure by gently pressing on abdomen or asking child to cough 5. DDx a. Hydrocele b. Hydrocele of cord

Answer 70

6. Complications a. Strangulation of the hernia – the younger the child, the greater the risk i. Particularly occurs during the first 6 months of life ii. Can be recognized when the groin swelling becomes irreducible b. Strangulation complications: ischaemia of bowel/over/testicle 7. Investigations = do NOT do USS 8. Treatment a. Reducible i. Always required to prevent strangulation ii. Day case, except if baby <4 weeks of age iii. 6:2 rule – if <6 weeks within 2 days, if <6 months within 2 weeks, if >6 months within 2 months b. Irreducible i. Urgent surgical referral ii. Most irreducible inguinal hernias can be manually reduced by a surgeon and surgery carried out within 48 hours iii. Pain relief is appropriate to aid with reduction iv. Use of ice packs or traction is inappropriate c. NOTE = asymptomatic side surgery if risk factors

Answer 71

1. The foreskin/ prepuce a. The foreskin is normally adherent to the glans at birth and remains so for a variable period of time b. It is fully retractable by 3 years of age, but partial adherence is still normal up to 10 years of age c. There is no need to retract the foreskin in preschool children i. Forcible retraction of the foreskin before it is ready can damage the glans and may cause secondary phimosis; therefore the foreskin should not be retracted forcibly 2. Smegma deposits a. Present as firm yellow-white masses beneath the prepuce in non-retractile foreskins b. Desquamated cells that accumulate beneath the adherent foreskin c. Often confused with tumours or cysts of the penis, but are normal variant and require no treatment

Answer 72

1. Definition = infection under the foreskin 2. Clinical presentation a. Redness, inflammation, and sometimes a white exudate b. May be associated with phimosis c. Usually not painful d. Glans NOT visible e. NOTE: localised erythema (should be foreskin + shaft) consider amonical irritation, smegma, dermatitis 3. Treatment a. Local penile toilet ie. soaking in antiseptic solution b. Local antiseptic ointment (eg. neomycin eye ointment/chlorsig) beneath the foreskin c. Topical hydrocortisone (1%) are used in mild cases d. Oral antibiotics (eg. co-trimoxazole) may also be added e. IV antibiotics – if the whole penile shaft skin is red and swollen to the pubis

Answer 73

1. Indications a. Phimosis b. Recurrent balanitis (balanitis xerotica obliterans – BXO) c. Urosepsis especially <1 year – in males with abnormal urinary tract e. No indication for neonatal circumcision 2. Referral a. Prior to referral can try response to 2-4 weeks topical corticosteroids – 0.1% Betnovate BD applied to the gently retracted foreskin b. Refer if surgical indication for circumcision or foreskin morphology is abnormal 3. Contraindications a. Hypospadias; foreskin may be required for penile reconstruction b. Circumcision is NOT required for cleanliness, and <10% of Australian boys are currently being circumcised c. Unnecessary operation with complications of surgery and anaesthesia 4. Risks a. Septicaemia + meningitis b. Removal of too much or too little foreskin c. Post-op bleeding + infection d. Haemorrhage e. Abrasion + ulceration of the glans, particularly near the urethral meatus

Answer 74

1. Key points a. Opening at the tip of the foreskin has narrowed down to such a degree that the foreskin cannot be retracted and the external urethral meatus is not visible b. Scarring of the preputial opening, which causes i. Urinary obstruction ii. Ballooning of the foreskin on micturition c. Note in 80% of uncircumcised boys the foreskin (prepuce) becomes retractable by 3 years of age 2. Cause a. Physiological b. Pathological from inflammation an scarring (recurrent balanitis) c. Occurs after circumcision 3. Treatment a. Circumcision – if severe i. Indications 1. Marked previous inflammation 2. Infection 3. Skin splitting 4. Balanitis xerotica obliterans b. Betamethasone valerate cream i. Used for persistent physiologic or pathological phimosis ii. Can loosen the phimotic ring in 2/3 of cases 4. Complication a. Severity of phimosis is such that there is ballooning of the foreskin on micturition, and on rare occasions it may even cause urinary retention with a distended bladder

Answer 75

1. Key points a. Acutely painful condition, which results from a retracted foreskin trapped behind the glans, forming an edematous ring constricting the exposed and swollen glans penis 2. Treatment a. Manual reduction – use topical local anaesthetic cream 5min before reduction i. PUSH the glans back through the ring, do not pull on the foreskin ii. Ice and adrenaline-containing creams should not be applied b. Surgical consult – if fail to reduce

Answer 76

1. Key points a. Congenital defect of the penis in which the urethral meatus develops more proximal than the usual location at the tip of the glans b. 1/250 boys c. Typically isolated defect – but increased incidence in DSD, anorectal malformation and CHD d. IMPORTANT – can ONLY diagnose hypospadias if there are two testicles in a fused scrotum i. Severe hypospadias may be indicative of ambiguous genitalia e. Associated abnormalities i. Cryptorchidism – in 10% ii. Inguinal hernia with and without hydrocele – in 10% f. Classification i. The anterior form: glandular, coronal and distal penile ii. The middle form: "midshaft” and proximal penile iii. The posterior form: penoscrotal, scrotal and perineal 2. Abnormalities a. A ventral urethral meatus (proximal to its correct position) = in most cases the urethra opens on or adjacent to the glans penis, but in severe cases the opening may be on the penile shaft or in the perineum b. Hooded dorsal foreskin = the foreskin has failed to fuse ventrally (hooded square of foreskin which hangs off the penis) c. Chordee (ventral angulation of the shaft and glans) = as the urethral meatus moves proximally, there is an increased chance of chordee – which is a curvature of the penis during erection that is secondary to the shortening of its ventral side

Answer 77

4. Investigations a. Karyotype = patients with mid-penile or proximal hypospadias AND cryptorchidism b. MCUG = in boys with penoscrotal hypospadias i. 5-10% of boys have dilated prostatic utricle 5. Complications a. Deformity of urinary stream b. Sexual dysfunction secondary to penile curvature c. Infertility if the urethral meatus is proximal d. Meatal stenosis 6. Treatment a. Dependent on severity b. Surgery = 6-18 months of age i. Enable straight urine stream and standing urination ii. Correct the bend – prevents painful erection iii. Cosmetic c. Infants must NOT be circumcised – may use foreskin for reconstructive surgery

Answer 78

1. Key points a. Very rare condition b. Urethra opens on the dorsal aspect of the base of the penis c. Part of a spectrum of lower abdominal wall defects in bladder exstrophy and cloacal exstrophy are the most severe forms 2. Presentation a. Incontinence of urine

Answer 79

* Persistent penile erection lasting >4 hours in duration * Continues beyond or is unrelated to sexual stimulation • Classification o Ischaemic o Non-ischaemic o Stuttering • Most common cause in children is sickle cell disease – 1/3 of children may develop priapism

Answer 80

Thyroglossal cyst • Most common (80% midline neck swellings) • Moves with tongue protrusion and swallowing • Attached to hyoid bone • USS – document normal thyroid gland • Treatment – Sistrunk procedure Ectopic thyroid • May be only thyroid tissue present • Do thyroid isotope scan Sub mental LN/ abscess • Check inside mouth for primary infection • Other cervical LN may be enlarged Dermoid cyst • Small, mobile, non-tender • Yellow tinge through skin in SC layer Goitre • Lower neck Cystic hygroma (a fluid-filled sac that results from a blockage in the lymphatic system) • Haemartoma • Usually evident from birth • May be extensive

Answer 81

• Most lateral neck swellings are acquired Infection • Persistently enlarged cervical LN are normal in children with frequent URTI (reactive hyperplasia) • LN can enlarge rapidly and become tender during active infection • Tx = rest, analgesia and antibiotics Abscess • In children aged 6 months to 3 years, lateral cervical lymphadenitis can progress to abscess formation – the LN enlarge over 4-5 days and become fluctuant, although deeper nodes may not exhibit fluctuation • Consider bacterial infection with abscess formation in infants with a large (2-4cm), tender mass • Often no overlying redness in cervical abscesses because the LN are beneath deep fascia • Skin involvement occurs late in the disease • Fluctuance is the indication for surgical referral for incision and drainage • Tx = incision + drainage Cystic hygroma • Congenital hamartomas of the lymphatic system • They vary greatly in size and can involve the front of the neck or one or other sides asymmetrically • They can enlarge rapidly from viral or bacterial infection, or from haemorrhage • Depending on their extent + location, the airway can be compromised leading to life-threatening respiratory obstruction • Tx = surgery (excision, debulking), slcerosant MAC lymphadenitis • Consider with evolution of indolent, non-tender, persistent lymphadenopathy in children 1-3 years of age • Purple discolouration of overlying skin indicates an abscess, which requires surgical treatment • Produces chronic cervical lymphadenitis • LN increase in size over several weeks before erupting into the SC tissue as a colour-stud ‘cold’ abscess • Eventually, if untreated, it may cause purple discoloration of the overlying skin and will ulcerate through the skin to produce a chronic discharging sinus • Tx = respond poorly to antibiotics, surgical removal of the collar-stud abscess and excision of underlying infected LN is required Malignancy • Large (>3-4cm) or suspicious LN needs to be biopsied to exclude malignancy