Gastroenterology Flashcards
How does Hirschsprung disease present?
It usually presents with bilious vomiting, abdominal distension, constipation and failure to pass meconium in the first 48 hours.
Is Hirschsprung disease more common in boys or girls?
Hirschsprung disease is a congenital bowel disease, which is five times more likely to occur in boys than girls.
What is a common complication of viral gastroenteritis?
Transient lactose intolerance
Symptoms of necrotising enterocolitis?
Necrotising enterocolitis is one of the leading causes of death among premature infants.
Initial symptoms can include feeding intolerance, abdominal distension and bloody stools, which can quickly progress to abdominal discolouration, perforation and peritonitis.
Diagnostic investigation for nectrotising enterocolitis?
Abdo X-ray
How to manage suspected mild-moderate cow’s milk protein intolerance?
a extensive hydrolysed formula should be tried
What is Hirschsprungs disease
Congen absence of ganglia in distal colon
Parasympathetic neuroblasts fail to migrate from neural crest to distal colon, development failure of PNS Auerbach + Meissner plexuses, uncoordinated peristalsis
Aganglionic section does not relax, causing it to become constricted > loss of movement of faeces and obstruction in bowel
M>F, down’s syndrome, neurofibromatosis, Waardenburg syndrome, MEN II
Features of Hirschsprungs disease
Delayed passage of meconium (>48hrs) Abdo distension Vomiting Poor weight gain, FTT Older children: constipation, abdo distension
Hirschsprung-associated enterocolitis - presents within 2-4 weeks of birth with fever, abdominal distention, diarrhoea (often with blood) and features of sepsis. Life threatening and can lead to toxic megacolon and bowel perforation. Requires Abx, fluid resuscitation and decompression of obstructed bowel
Complications of Hirschsprungs disease
Functional obstruction, megacolon GI perf Bleeding Ulcers Entercolitis Short gut syndrome after surgery
Investigations for Hirschsprungs disease
PR: tight sphincter + explosive discharge of stool + gas
Rectal suction/ biopsy: aganglionic Stain for acetylcholinesterase + nerve XS.
AXR.
Management of Hirschsprungs disease
Initially rectal washouts/ irrigation, Fluid resuscitation and management of obstruction Excision of aganglionic segment Colostomy, Anorectal pull through procedure.
What is oesophageal atresia and trachea-oesophageal fistula?
a birth defect in which part of a baby’s esophagus (the tube that connects the mouth to the stomach) does not develop properly
often happens along with another birth defect called a tracheo-oesophageal fistula, which is a connection between the lower part of the oesophagus and the windpipe (trachea).
common in babies with mothers with polyhdramnios
also more common in babies who have problems with kidney, heart and spine development
Features of oesophageal atresia and trachea-oesophageal fistula?
Prenatal: polyhydramnios = can’t swallow, small/ absent stomach bubble
Postnatal: resp distress, aspirating after feeds cough/ choke when fed (regurg of food/ cyanotic during feeding), vomiting
Persistent salivation/ drooling of frothy saliva
Complications of oesophageal atresia and trachea-oesophageal fistula?
Recurrent resp infections
LT GORD (poor motility)/ strictures = due to scar tissue not growing/functioning as well
Tracheomalacia
Diagnosis of oesophageal atresia and trachea-oesophageal fistula?
Inability to pass Ryles/NGT – XR shows coiling in oesophagus. Avoid contrast imaging
CXR: if stomach bubble suggest fistula, air filled pouch at level of 3rd thoracic vertebra.
Management of oesophageal atresia and trachea-oesophageal fistula?
NBM
Continuous oesoph pouch suction using replogle tube.
1° surgical repair in 1st 24hrs. Longer gap may not allow, gastromy tube necessary to allow enteral feeding
Elongation of oesophagus via Foker technique, colon interposition.
What is congenital diaphragmatic hernia?
Diaphragm defect, herniation of abdo contents into chest, pul hypoplasia + HTN, poor surfactant production
usually represents a failure of the pleuroperitoneal canal to close completely
Left sided posterolat Bochdalek: 85%, failure of fusion of septum transversum with pleuroperitoneal membrane
Morgani: <5%, failure of fusion of septum transversum, ant with sternum + ribs. R sided
1 in 2000 newborns
Features of congenital diaphragmatic hernia?
Difficult resus at birth
Resp distress ↑RR, nasal flaring, cyanosis, grunting intercostal retractions
Barrel chest, scaphoid abdo (concave ant abdo wall)
Bowel sounds in 1 hemithorax, displaced heart to R, no BS on affected side
pH <7.3 + cyanosis
Possible syndromic dysmorphism
Complications of congenital diaphragmatic hernia?
Bowel complications: obstruction, strangulation, incarceration, ileus, ulceration, perforation
Only 50% survive due to pul hypoplasia
Diagnosis of congenital diaphragmatic hernia?
Prenatal USS: fluid filled stomach/ bowel in thorax, peristalsis in chest, oesophageal compression >polyhydramnios.
CXR: abdo contents, air/fluid filled bowel + poorly aerated lung.
NG tube inserted + chest radiograph seen in thorax.
Management of congenital diaphragmatic hernia?
Prenatal: fetal tracheal obstruction by balloon, encourage lung growth, pushing out other viscera.
Postnatal: intubation at birth, ventilation, ECMO, NGT to decompress bowels
Surfactant
Facemask ventilation CI > pushes air into gut
Surgery: ↓ of hernial contents, closure of defect. 24-48hrs.
What is imperforate anus?
No anal opening: membranous covering to complex cloacal malformations. Can involve muscles, nerves, GUT + spine
VACTERL
The rectum or the colon may be connected to the vagina or the bladder by a tunnel (fistula
RF: trisomy 13, 18 + 21, paternal smoking, maternal obesity + DM
8-12 wks gest. Impaired septation + cloacal membrane short in dorsal part, hindgut retains attached to sinus urogenitalis.
Features of imperforate anus?
Fails to have bowel movement within 24hrs.
Abdo distension
Meconium may emerge from fistula in perineum or urethra
Urine: look for meconium
Fistula to GU tract if stool noted coming out of urethra or vagina instead of anus
Girls: post fourchette fistula
Boys: post urethral fistula - may pass meconium in urine
Investigations for imperforate anus?
Look for other abnormalities
USS: help estimate distance between rectal pouch + perineum
Seen on exam.
Management of imperforate anus?
Surgery
Hydration, avoidance of sepsis
NG tube for stomach decompression, avoid vomiting + aspiration
What is midgut malrotation?
a defect in the normal embryonic rotation of the gut, which causes an abdominal obstruction that presents acutely or with chronic intermittent gastrointestinal symptoms
Features of midgut malrotation?
Bilious V if volvulus
Obstruction in infancy, insidious onset in older children (intermittent Sx)
Normally RUQ, severe, sudden onset
Blood PR: mid-gut necrosis, urgent surgical decompression
Complications of midgut malrotation?
Volvulus Obstruction Hernia Malnutrition Ischaemic/ necrotic bowel Omphalocele
Diagnosis and management of midgut malrotation?
Upper GI contrast: R sided, inf or medial duodenum. Volvulus: bird beak, corkscrew.
CT abdo: if midgut volvulus upper GI series 1st. No oral contrast beyond duodenum (volvulus), no contrast in SMA (volvulus with ischaemia), transportation of SMA/V (malrotation), R sided duodenum
Ladd procedure: surgical detorsion of bowel, division of ladd bands (peritoneal tissue, attach cecum to retroperitoneum in RLQ), widening small intestine mesentery, appendectomy, reorientation of small bowel
Laparotomy
What is gastroschisis?
a birth defect where there is a hole in the abdominal wall beside the belly button - no peritoneal layer
RF of gastroschisis?
mother young age, teratogenic substances
Features of gastroschisis?
Fetal: asymptomatic
Birth: difficulty passing stool/feeding
Small defect in abdo wall, herniated organs exposed to air.
Most common R side, usually small intestine, stomach, liver, may also protrude
Intestinal inflam due to IU exposure to amniotic fluid
Malabsorption
Infarction due to compressed BV
Infection
U USS, MRI
↑ AFP
Management of gastroschisis?
Fatal if untreated
Abx
IV fluid/nutrients
Cling film covered to prevent loss of fluid
Surgical repositioning into abdo cavity, closure of defect, multiple surgeries
Vaginal delivery may be attempted, newborns go to theatre ASAP eg within 4 hrs
What is omphalocele and exomphalos?
a birth defect of the abdominal (belly) wall. The infant’s intestines, liver, or other organs stick outside of the belly through the belly button. The organs are covered in a thin, nearly transparent sac that hardly ever is open or broken.
exomphalos involves a stronger covering of the hernia (with fascia and skin), whereas omphalocele involves a weaker covering of only a thin membrane.
Associated with: trisomy 13 18 21 Beckwith-Wiedemann syndrome
RF: alcohol/tobacco during pregnancy, SSRIs, obesity
Complications of omphalocele and exomphalos?
Abdo cavity malformation
Volvulus
Ischaemic bowel
Diagnosis and management of omphalocele and exomphalos?
IU USS
↑ AFP
Amniocentesis
C-section to ↓ risk of sac rupture
Surgical repositioning of protruding organs
Gradually to give time to expand, if done when no space = compartment syn, if VC obstruction, ↓return to heart, hypotension, death. Sac allowed to granulate, epithelise over wks/ mnths. When can fit, sac removed abdo closed
What is pyloric stenosis?
hypertrophy of the circular muscles of the pylorus, narrows pyloric canal
incidence 4 per 1000 live births
M>F (4:1)
10-15% infants have FHx
first-borns are more commonly affected
Features of pyloric stenosis?
‘projectile’ non-bilious, vomiting, typically 30 minutes after a feed
constipation and dehydration may also be present. hungry baby
a palpable mass may be present in the upper abdomen. Visible peristaltic waves L>R
hypochloraemic, hypokalaemic alkalosis due to persistent vomiting
FTT/ weight loss
↓wet nappies, dry mucous membranes, flat/depressed fontanelles > severe volume depletion
Diagnosis and management of pyloric stenosis?
USS
Ramstedt pyloromyotomy
Electrolyte replacement + IV fluid
Wide bore NG tube
What is intestinal atresia?
used to describe a complete blockage or obstruction anywhere in the intestine
Congen malformation, closed/ absent part of intestine
Duodenal: failure in duodenal vacuolisation to re-establish duodenal passageway after duodenal epithelium prolifs + full duodenal obstruction. Associated with down’s
Non-duodenal: IU ischaemic injury, apple peel appearance
Features of intestinal atresia?
Bilious vomiting
Abdo pain
Malnutrition
Stomach/duodenum distension (accumulated AF has nowhere to go)
Polyhydramnios, fetus swallows less due to intestinal obstruction
Intestinal perf, pneumoperitoneum, meconium peritonitis
Diagnosis and management of intestinal atresia?
Prenatal USS: 3rd trim. Obstruction. Duodenal (dilated fluid filled stomach adjacent to dilated duodenum). Non-duodenal: dilated fluid filled bowel Polyhydramnios.
Post-natal x-ray: duodenal (double bubble sign), non-duodenal (dilated bowel, air filled fluid levels proximal to obstruction).
Gastric decompression: removal of fluid from stomach
IV fluid compensation
Surgical reattachment of functional portions of intestines. Duodenal intestinal atresia > duodenoduodenostomy
What is infantile colic?
a benign, self-limited process in which a healthy infant has paroxysms of inconsolable crying. The standard diagnostic criteria—known as the “rule of three”—is crying more than three hours per day, more than three days per week, for longer than three weeks.
Drawing up knees
Passage of XS flatus
> 40% in 1st few mnths of life
Management of infantile colic?
Benign condition
Resolves
If not consider GORD/ milk free formula
What is recurrent abdominal pain in children?
defined as at least three episodes of pain that occur over at least three months and affect the child’s ability to perform normal activities
most often considered functional (non-organic) abdominal pain.
However an organic cause is found in 5-10% of cases
Risk factors for recurrent abdominal pain in children?
F>M, parenteral anxiety, illness in sibling, ADHD, bullied, child abuse.
Types of recurrent abdominal pain in children?
IBS: abdo pain, improved with defecation, change in stool
Functional dyspepsia: 2+ mnth postprandial fullness after ordinary sized meals, several times per wk, upper abdo bloating, XS blenching
Functional abdo pain: 4X a mnth for last 2mnths episodic or continuous, not attributed to other med condition.
Functional abdo pain syndrome: as above + other body pains, impacts ADLs, somatic Sx eg headache, limb pain or diff sleeping.
Features of recurrent abdominal pain in children?
Peri-umbilical, poorly localised.
No other GI Sx
School absence + anxiety
Headache, joint pain, V+N, anorexia, excessive gas, altered bowels
Abdo migraine: paroxysmal eps of intense, acute periumbilical pain 1hr+, intervening periods of normal health wks to mnths, interferes with normal activity, 2+ of: anorexia, N/V, headache, photophobia, pallor. 2X in last 12 mnth.Tx: pzitofen.
Alarming features in recurrent abdominal pain?
Involuntary WL Falling of growth centiles GI blood loss Sig vomiting Chronic severe diarrhoea Unexplained fever Persistent RUQ/RLQ pain FHx of IBD Pallor, jaundice, guarding, rebound tenderness, altered bowel sounds, palpable mass Joint inflam Oral/perianal lesions Skin rashes Delayed puberty
Diagnosis of recurrent abdominal pain?
Rule out CD/IBD gynae causes Coeliac serology: IgA FBC/haemantics: IBD/coeliac CRP Faecal calprotectin H pylori
Management of recurrent abdominal pain?
Identify + remove things that reinforce Sx eg time off school with access to TV + treats
Encouraged to attend school even if in pain
Avoid excessive investigations
Dietary interventions + probiotics, fibre, low FODMAP. If IBS
CBT
What is neuroblastoma?
a cancer that starts in certain very early forms of nerve cells, most often found in an embryo or fetus
Malig, neuroendocrine tumour. Neural crest cells of adrenal medulla, paraganglia (carotid bodies), SNS
Secretes catecholamines
Undiff: small blue round cells, contains nerve fibers (neuropil)
Poorly diff: displays diff + undiff characteristics
Differentiated: surrounded by myelin AKA Schwannian stroma, better prognosis
Features of neuroblastoma?
Median onset 18 months, some disappear, others present w mets ± DVT
Palpable abdo mass
Abdo distension
Pallor, ↓weight, sweating fatigue, ↓appetite
Fussiness
Bone pain, limp
Paraplegia
Hepatomegaly
Proptosis
SVC syndrome: dyspnoea, facial swelling, cough, distended neck/ chest veins, oedema of upper extremities.
Complications of neuroblastoma?
Mass effect: Horner’s, SCC, constipation
Bone mets
Skull base #: battle, racoon eyes
Myelosuppression: anaemia, leukopenia, thrombocytopaenia
SCC: loss of bowel/ bladder function, lower extremity weakness
Intractable secretory diarrhoea: VIP secretion.
Diagnosis of neuroblastoma?
Urine catecholamine
Biopsy
↑urinary vanillylmandelic acid + homovanillic acid
Calcification on AXR
CT: renal mass/mass adjacent to spinal nerve roots
USS: heterogenous internal vascularity, areas of necrosis or calcifications
FBC: pancytopenia
↑Cr:Ur + LFTs, LDH
Treatment of neuroblastoma?
Specialist referral
Chemotherapy (carboplatin, etopside, cyclophosphamide + doxorubicin)
Surgery
Radiotherapy
What is intussusception?
describes the invagination of one portion of bowel into the lumen of the adjacent bowel, most commonly around the ileo-caecal region.
usually affects infants between 6-18 months old. Boys are affected twice as often as girls
Post infection lymphoid hyperplasia (Peyer’s patch)
Meckel’s diverticulum (lead point)
RF’s for intussusception?
<24 mnths, Hx of intestinal malrotation/intussusception, intussusception in sibling, M>F, nephrotic syndrome.
Features of intussusception?
paroxysmal abdominal colic pain
during paroxysm the infant will characteristically draw their knees up and turn pale
vomiting
bloodstained stool - ‘red-currant jelly’ - is a late sign
sausage-shaped mass in the right upper quadrant
Complications of intussusception?
Peritonitis Sepsis Obstruction Volvulus Intestinal tearing
Investigations for intussusception?
Sausage like abdo mass
USS (1st line), XR, CT: telescoped intestine, bull’s eye/target like mass/image, obstruction.
May be felt on PR
Management of intussusception?
the majority of children can be treated with reduction by air insufflation under radiological control, which is now widely used first-line compared to the traditional barium enema
if this fails, or the child has signs of peritonitis, surgery is performed > free telescoped intestine clear obstruction, remove necrotic tissue
Causes of appendicitis?
Intraluminal stasis, mucus secreted into lumen, ↑luminal pressure. Appendix swells.
Obstruction: lymphoid follicle hyperplasia, fecalith, FB, pinworm, tumour, infection
XS bacteria multiplication behind obstruction. Immune response, pus accumulates, parietal peritoneum irritation
RF: 10-30, M, FH, CF
Features of appendicitis in children?
Abdo pain: umbilical, then McBurney’s point
N/V/D/C/ fever/anorexia
Rovsing’s: LLQ palpated leads to RLQ pain
Psoas sign: pain on extending hip if retrocaecal appendix
↑HR
Furry tongue
Lying still, pain worse on breathing, moving
RT, guarding
Preschool: D/V, sometimes no abdo pain, may have abdo mass + collections. Perf rapid as omentum thin.
uncommon in children under 4 years old but in this group often presents with perforation
Complications of appendicitis?
Appendiceal a, doesn’t reach end of appendix, pressure compresses capill, ischaemia, necrosis. Cell wall weaker, rupture. Peritonitis Periappendiceal abscess Subhrenic abscess Pylephlebitis Portal venous thrombosis Sepsis
Diagnosis of appendicitis?
CT contrast: 🡩appendix diameter + wall enhancement. Pus spillage, abscess
USS: visible, dilated appendix, noncompressible, 🡩blood flow in appendix wall, appendicolith, RIF fluid collection.
Neutrophilic leucocytosis more important than ↑CRP in kids. ↑serum BR: perf
Urinalysis - exclude pregnancy in girls, renal colic, UTI
Management of appendicitis?
ABx (metronidazole)
Appendecotomy
Abscess drainage
IV fluids, NBM
Perf > abdo lavage.
If constipated + suspect appendicitis, avoid taking laxatives/enema. May cause rupture.
If child appears well, sit forward unsupported + hop, appendicitis unlikely.
RF’s for GORD?
RF: premies, FH, obesity, hiatus hernia, repaired congen diaphragmatic hernia, repaired oesophageal atresia, neurodisability (CP)
40% of infants regurg their feeds, so is degree of overlap with normal physiology
Features of GORD?
Typically <8wks
Vomiting/ regurg following feeds
Distress: crying, lifting legs, arching back, coughing
Complications of GORD?
Reflux oesophagitis
Recurrent aspiration pneumonia
Recurrent OM
Dental erosion
Apnoea, SIDS
Resolves in 90% before 1 y/o ↑length of oesophagus, ↑tone of LOS, upright position + weaning
Treatment of GORD in infants?
Gaviscon infant – dual sachets
Thickened formula
Head position in feeds >30°, head up
Unexplained feeding diff, distressed, faltering growth: PPI, prokinetics, fundoplication
What is necrotising enterocolitis?
one of the leading causes of death among premature infants
Acute neonatal intestinal necrosis, serious acute inflam response to insult.
Immature epithelial cells > enteral feed in premie
M>F, LBW, premie, comorbidities affecting gut perfusion (CHD, IUGR, sepsis), mechanical ventilation, 5 min APGAR <7, formula fed, hypoxia, infection (Abx promote floral changes)
Features of necrotising enterocolitis?
> 90% within 10 days of life, triad; bilious vomit, abdo distension, altered bowel habit, bloody stool
Feeding intolerance,
Lethargy
Apnoea + dyspnoea
Temp instability
Abdo discolouration
Mucosal sloughing
PR bleed
Diagnosis of necrotising enterocolitis?
Abdo XR - dilated bowel loops, bowel wall oedema, pneumatosis intestinal, portal venous gas, pneumoperiotoneum, Rigler sign (air inside and outside bowel wall), football sign (air outlining falciform ligament)
Blood + stool culture
FBC: thrombocytopenia,
Clotting, U+Es
Blood gas + lactate
Complications of necrotising enterocolitis?
Bowel perforation
DIC
Peritonitis
Shock
Management of necrotising enterocolitis?
Supportive initially for non-perf, IVI, discontinuation of enteral feeds, NBM, total gut rest, TPN
IV broad spectrum Abx after cultures taken
Laparotomy + resection in perf
Analgesia
Low threshold for intubation
Summary of mesenteric adenitis?
Inflamed LN in mesentery
Follows recent viral infection
Similar to appendicitis
Not as localised
Lower fever, no vomiting
Resolves within 48hr
Clinical diagnsosis
No Tx
What is Meckel’s diverticulum?
a congenital diverticulum of the small intestine. It is a remnant of the omphalomesenteric duct (also called the vitellointestinal duct) and contains ectopic ileal, gastric or pancreatic mucosa. . Rule of 2s occurs in 2% of the population is 2 feet from the ileocaecal valve is 2 inches long symptomatic presentation <2 y/o 2 types of ectopic mucosa - pancreatic, gastric
arterial supply: omphalomesenteric artery.
normally obliterated wk5-6 pregnancy
Features of Meckel’s diverticulum?
abdominal pain mimicking appendicitis
rectal bleeding - Meckel’s diverticulum is the most common cause of painless massive GI bleeding requiring a transfusion in children between the ages of 1 and 2 years
intestinal obstruction - secondary to an omphalomesenteric band (most commonly), volvulus and intussusception
Investigation for Meckel’s diverticulum?
USS
if the child is haemodynamically stable with less severe or intermittent bleeding then a ‘Meckel’s scan’ should be considered - uses 99m technetium pertechnetate, which has an affinity for gastric mucosa
mesenteric arteriography may also be used in more severe cases e.g. transfusion is required
AXR
FBC
Management of Meckel’s diverticulum?
removal if narrow neck or symptomatic
options are between wedge excision or formal small bowel resection and anastomosis
What is biliary atresia?
involving either obliteration or discontinuity within the extrahepatic biliary system, which results in an obstruction in the flow of bile
neonatal presentation of cholestasis in the first few weeks of life.
infectious agents(CMV), congenital malformations and retained toxins within the bile are all contributing factors
Associations - cardiac malformations, polysplenia +/- situs inversus, premies
F>M
1 - Proximal ducts patent, CBD obliterated
2 - Atresia of cystic duct + cystic structures in porta hepatis
3 - Atresia of L + R duct to level of porta hepatis, >90% of case
Features of biliary atresia?
Neonatal cholestasis in 1st few wks of life.
Jaundice
FTT
Dark urine > CBR
Fatty pale stools
Hepatosplenomegaly, ascites
Malnutrition > poor growth
Irritability
Appetite + growth disturbance
Cardiac murmurs if associated cardiac abnormalities present
Investigations for biliary atresia?
Serum bilirubin including differentiation into conjugated and total bilirubin: Total bilirubin may be normal, whereas conjugated bilirubin is abnormally high
Liver function tests (LFTs) including serum bile acids and aminotransferases are usually raised but cannot differentiate between biliary atresia and other causes of neonatal cholestasis
Serum alpha 1-antitrypsin: Deficiency may be a cause of neonatal cholestasis
Sweat chloride test: Cystic fibrosis often involves the biliary tract
Ultrasound of the biliary tree and liver: May show distension and tract abnormalities
HIDA scan - rules out if contrast in intestine
Percutaneous liver biopsy with intraoperative cholangioscopy
Management of biliary atresia?
Surgical intervention is the only definitive treatment for biliary atresia: Intervention may include dissection of the abnormalities into distinct ducts and anastomosis creation
Kasai procedure - portoenterostomy = excision of extrahepatic BD remnants + GB. May require liver transplant at 1-2 y/o. Bypass fibrotic ducts connect liver to SI
Surgical cholangiogram - surgical exploration
Medical intervention includes antibiotic coverage and bile acid enhancers following surgery
Ursodeoxycholic acid
Nutritional therapy - fat soluble vitamins
Complications and prognosis of biliary atresia?
Comp’s:
Unsuccessful anastomosis formation
Progressive liver disease
Cirrhosis with eventual hepatocellular carcinoma
Prognosis:
Prognosis is good if surgery is successful
In cases where surgery fails, liver transplantation may be required in the first two years of life
Summary of neonatal hepatitis?
Various causes
Infection from mother (CMV, rubella, hep A, B or C)
Jaundice at 1-2 mnths of age, not gaining weight, hepatosplenomegaly
In contrast to BA where develop issues, often born with IUGR/ hepatomegaly
What is coeliac disease?
Enteropathy induced by gluten
Strongly associated with HLA-DQ2 + HLA-DQ8
Associated with other AI disorders, Down’s + Turner’s
Features of coeliac disease?
Diarrhoea, anorexia, abdo distension, pain
Can present at any age > signs less obvious in older children
Anaemia: ↓folate/ferritin
Malabsorption + malnutrition
Faltering growth
FTT
Lymphoma if continuous inflammation.
Investigations for coeliac disease?
↑IgA anti-TTG + endomysial IG. Must eat gluten for 6 wks prior
Measure IgA as if def then not good test: anti-gliadin IG instead. ↓reliability if < 18 mnths
Small bowel biopsy in duodenum usually > villous atrophy, crypt hyperplasia. Eat gluten or can’t see.
Management of coeliac disease?
MDT approach
Dietician input, gluten free diet, some gluten free food can be prescribed
Explain to them that no gluten = no disease.
Causes of malnutrition in children?
CD, CF, worms, IBD bacterial overgrowth, eosinophilic gastroenteritis.
Marasmus vs Kwashiorkor malnutrition?
Marasmus: more common, old man (thin, flaccid skin, prominent bones, alert, irritable, distended abdo). Protein + carb starvation.
Kwashiorkor: ↑mortality, bilat pitting oedema, apathy, anorexia. Skin/ hair depigmentation, fragility. Distended abdo. Mostly protein starvation
Sx of malnutrition?
Weak immune system
Bleeding gums
Acute: ↓wght:ht or mid upper arm circumference
Chronic: ↓ht for age, shunting
Management of malnutrition?
Re-education
In developed countries > neglect
Gradual increases, high protein diet + vitamins. Make sure to avoid refeeding syndrome
What is Rickets?
Mineral def prevents normal mineral deposition, slows growth + bone age retarded - mostly vit D and calcium
Nutritional: northern latitude, dark skin, ↓sun, maternal def, ↓Ca, P, vit D (exclusive BF, dairy free diets), prolonged TPN in infancy without Ca supplement.
Malabsorption: CD, CF, (pancreatic) cholestatic LD.
Defective production: CLD, faconi syndrome (renal loss), renal phosphate wasting, renal tubular disorders, x-linked hypophosphatemia, McCune- Albright syndrome.
Meds: loop diuretics, corticosteroids > Ca + P def. phenytoin cause target organ resistance to calcitriol.
Sx of Rickets?
Ping-pong ball skull (craniotabes) > by pressing firmly on post parietal bones
Bowed legs
Rachitic rosary: bead like thickenings on chest wall expansion of costochondral junctions
Harrison sulcus: horizontal depression on lower chest, attachment of shortened ribs
Tender/swollen joints
Delayed walking, waddling gait
Frontal bossing due to soft skull. Delayed
FTT
Investigations and management of Rickets?
↓Ca = ↑PTH
↓P, ↑ALP
Low vit D
Most common <2 + teen = rapid growth periods
Only in growing children, in adults, osteomalacia.
Tx - vit D, Ca supplements
Summary of Fe def anaemia in children?
Inadequate intake, non-modified cow’s milk (not formula)
Parasite in LEDCs
Angular cheilitis: inflam corner of mouth
Koilonychia: thin, concave nails
Tachycardia
Pica: ED, eating non-food substances e.g. soil, ice for >1 mnth
Flow murmur
Summary of vit C deficiency?
Water soluble vit
Function: antioxidant, collagen synthesis, facilitates iron absorption, cofactor for norepinephrine synthesis.
Scurvy: defective collagen synthesis, capillary fragility (gum bleeding, epistaxis, haematuria), poor wound healing
General malaise
Gingivitis, loose teeth
Summary of Vit A (retinol) deficiency?
Fat soluble vit
Converted to retinal, visual pigment, important in epithelial cell differentiation
Night blindness
Summary of vit B3 (niacin) deficiency?
Water soluble vit
Precursor to NAD+ + NADP+, essential metabolic role in cells
Pellagra, dermatitis, diarrhoea, dementia
Obesity in children?
Overnutrition accelerates linear growth + puberty
If short + obese search for an endogenous cause
Under exercise, diet
Endogenous: Cushing’s, hypothyroid, GH def, Prader-Willi, Down’s,
Asian children: 4X more likely to be obese than white children
F>M
Sx of obesity in children?
> 98th is obese (>91st is overweight)
Obese children usually above 50th centile for height
Psychological consequences: poor self-esteem, bullying
Orthopaedic: slipped upper femoral epiphyses, Blount’s disease(development abnormality of tibia bowing of legs), pain
Sleep apnoea
Benign IC HTN
T2DM, HTN + IHD
Investigations and management of obesity in children?
> 12 just normal BMI, before this is adjusted for age/sex
If >91st centile consider tailored clinical intervention, if >98th centile assess for comorbidities
Healthier eating, ↑ activity – aim to maintain weight so can grow into it
Constipation and soiling (encopresis) in children?
Faecoliths: hard faeces that has been calcified
No identifiable cause > idiopathic constipation, 90%
Dehydration, ↓fibre, meds (opiates), over-enthusiastic potty training, hypothyroid, Hirschsprung’s, ↑Ca, neurological, LD.
Functional: fissures, scared to go, exacerbate problem, overflow + soil themselves
Dx where constipation common: down’s, CP, SG
mean of 3 times per day for infants under 6 months old to once a day after 3 years of age.
Sx of constipation and soiling (encopresis) in children?
↓freq, passage of hard stools may be large with straining + pain. Sometimes blood.
Overflow soiling: very loose, smelly, passed without sensation or awareness
Diagnosis of constipation in children?
Suggested by 2 or more of the following:
Children < 1 year: Fewer than 3 complete stools per week (type 3 or 4 on Bristol Stool Form Scale) (this does not apply to exclusively breastfed babies after 6 weeks of age) Hard large stool 'Rabbit droppings' (type 1) Distress on passing stool Bleeding associated with hard stool Straining Previous episode(s) of constipation Previous or current anal fissure
Children > 1 yr:
Fewer than 3 complete stools per week (type 3 or 4)
Overflow soiling (commonly very loose, very smelly, stool passed without sensation)
‘Rabbit droppings’ (type 1)
Large, infrequent stools that can block the toilet
Poor appetite that improves with passage of large stool
Waxing and waning of abdominal pain with passage of stool
Evidence of retentive posturing: typical straight-legged, tiptoed, back arching
posture
Straining
Anal pain
Previous episode(s) of constipation
Previous or current anal fissure
Painful bowel movements and bleeding associated with hard stools
Red flags for constipation?
Reported from birth or first few weeks of life
Passage of meconium > 48 hrs
Ribbon stools
Faltering growth - amber flag
Previously unknown or undiagnosed weakness in legs, locomotor delay
Abdo distension
Amber flag: Disclosure or evidence that raises concerns over possibility of child maltreatment
Signs indicating idiopathic constipation?
Starts after a few weeks of life
Obvious precipitating factors coinciding with the start of symptoms: fissure, change of diet, timing of potty/toilet training or acute events such as infections, moving house, starting nursery/school, fears and phobias, major change in family, taking medicines
Passage of meconium <48 hrs
Growth generally well, weight and height within normal limits, fit and active
No neurological problems in legs, normal locomotor development
Diet - Changes in infant formula, weaning, insufficient fluid intake or poor diet
Features of faecal impaction?
symptoms of severe constipation
overflow soiling
faecal mass palpable in the abdomen (digital rectal examination should only be carried out by a specialist)
Management of faecal impaction?
polyethylene glycol 3350 + electrolytes (Movicol Paediatric Plain) using an escalating dose regimen as the first-line treatment
add a stimulant laxative (Senna) if Movicol Paediatric Plain does not lead to disimpaction after 2 weeks
substitute a stimulant laxative singly or in combination with an osmotic laxative such as lactulose if Movicol Paediatric Plain is not tolerated
inform families that disimpaction treatment can initially increase symptoms of soiling and abdominal pain
Management of constipation in children?
first-line: Movicol Paediatric Plain
add a stimulant laxative if no response
substitute a stimulant laxative if Movicol Paediatric Plain is not tolerated. Add another laxative such as lactulose or docusate if stools are hard
continue medication at maintenance dose for several weeks after regular bowel habit is established, then reduce the dose gradually
do not use dietary interventions alone as first-line treatment although ensure the child is having adequate fluid and fibre intake
consider regular toileting and non-punitive behavioural interventions
for all children consider asking the Health Visitor or Paediatric Continence Advisor to help support the parents.
Management of constipation in infants?
Infants not yet weaned (usually < 6 months)
bottle-fed infants: give extra water in between feeds. Try gentle abdominal massage and bicycling the infant’s legs
breast-fed infants: constipation is unusual and organic causes should be considered
Infants who have or are being weaned
offer extra water, diluted fruit juice and fruits
if not effective consider adding lactulose
Causes of diarrhoea in children?
Normal for BF to have loose, pasty stools
Acute: 3+ partially formed/ loose stools per day <14 days. Common cause of gastroenteritis is rotavirus
Dysentery: loose stools, blood, mucus, pyrexia, abdo cramps
Causes: CD, Abx, LI, Toddler’s diarrhoea, IBS, chronic bowl infection, IBD, food allergy + intolerance, small intestinal bacterial overgrowth, malig, cows mil intolerance, post-GE LI, cholestatic LD, CF, hyperthyroid, short bowel syndrome.
Sx of diarrhoea in children?
NICE suggest that typically:
diarrhoea usually lasts for 5-7 days and stops within 2 weeks
vomiting usually lasts for 1-2 days and stops within 3 days
Dehydration - Appears to be unwell or deteriorating Decreased urine output Skin colour unchanged Warm extremities Altered responsiveness (for example, irritable, lethargic) Sunken eyes Dry mucous membranes Tachycardia Tachypnoea Normal peripheral pulses Normal capillary refill time Reduced skin turgor Normal blood pressure
Clinical shock - Decreased level of consciousness Cold extremities Pale or mottled skin Tachycardia Tachypnoea Weak peripheral pulses Prolonged capillary refill time Hypotension
Secretory: ↓absorption/ ↑secretion. Stool watery, even if fasting
Osmotic: ↑in osmotic load in gut lumen, watery, acidic + for ↓substances
Motility: ↑: thyrotoxicosis, IBS. ↓: pseudo-obstruction, intussusception.
Inflam: bloody diarrhoea, salmonella, shigella, campylobacter, rotavirus, IBD, coeliac, HUS
Children at risk of dehydration?
children younger than 1 year, especially those younger than 6 months
infants who were of low birth weight
children who have passed six or more diarrhoeal stools in the past 24 hours
children who have vomited three times or more in the past 24 hours
children who have not been offered or have not been able to tolerate supplementary fluids before presentation
infants who have stopped breastfeeding during the illness
children with signs of malnutrition
Not clinically detectable = <5% weight
Detectable = 5-10% weight loss
Shock = >10%
Features of hypernatraemic dehydration?
jittery movements increased muscle tone hyperreflexia convulsions drowsiness or coma
Diagnosis of diarrhoea in children?
NICE suggest doing a stool culture in the following situations:
you suspect septicaemia or
there is blood and/or mucus in the stool or
the child is immunocompromised
You should consider doing a stool culture if:
the child has recently been abroad or
the diarrhoea has not improved by day 7 or
you are uncertain about the diagnosis of gastroenteritis
Management of diarrhoea in children?
If clinical shock is suspected children should be admitted for intravenous rehydration.
For children with no evidence of dehydration
continue breastfeeding and other milk feeds
encourage fluid intake
discourage fruit juices and carbonated drinks
If dehydration is suspected:
give 50 ml/kg low osmolarity oral rehydration solution (ORS) solution over 4 hours, plus ORS solution for maintenance, often and in small amounts
continue breastfeeding
consider supplementing with usual fluids (including milk feeds or water, but not fruit juices or carbonated drinks)
Return to school/ childcare facility 48hrs after last episode
Causes of chronic diarrhoea in infants?
most common cause in the developed world is cows’ milk intolerance
toddler diarrhoea: stools vary in consistency, often contain undigested food
coeliac disease
post-gastroenteritis lactose intolerance
Summary of toddler’s diarrhoea?
Chronic non-specific diarrhoea
Commonest cause of persistent loose stools in children of pre-school age, most grow out by 5, faecal continence delayed in some. Probably maturinal delay of intestines = intestinal hurry.
Stools varying consistency, well-formed > diarrhoea
Undigested veg in stool common = ‘peas + carrots’ diarrhoea
No other Sx, no FTT
Tx - ↑consumption of fat/↓ fruit juices (fructose) helps
Summary of encopresis?
Often functional, overflow due to withholding faces (fear), or constipation.
Fear of toilets, punitive potty training. Neurodevelopmental.
M>F
Repeated voluntary/ involuntary passage of faeces in inappropriate places.
>4y/o normal bowel control expected
60-90% will become continent within a year.
Reassure: address stress + review toilet training.
At least once a month 3 months in a row.
Daily laxative: stool softeners: 1g/kg/day polyethylene glycol
Behav therapy: encourage toilet usage, normalise bowel movements
Dietary: avoid constipating foods, hydration, ↑fibre, fibre tablets
Causes of enuresis?
Causes: genetic, environment, stress, FH, M>F, development delay, constipation, faecal impaction, psychiatric comorbidities
1°: toilet training never mastered. Delayed maturation of bladder’s innervation or generalised development delay. Stress + excessively relaxed/ strict training.
2°: dryness achieved for at 6 mnths then lost. Stress (e.g. starting new school). IDDM, UTI, constipation, psychological or family issues.
Sx of enuresis?
Repeated voluntary/ involuntary passage of urine in inappropriate places, >5y/o
Diurnal enuresis: F>M
Nocturnal: bed wetting, M>F
Majority of children achieve continence by 3-4 y/o
Diagnosis and management of enuresis?
2X per week > 3 consecutive months affects life
Assess pattern + arrange renal USS with bladder capacity for daytime wetting/dysfunction voiding
Review toilet training
Possible underlying causes/triggers - constipation, DM, UTI if recent onset
Tx: Enuresis alarm - sensor pads Desmopressin - short-term control or alarm not effective Star charts: given for agreed behav eg using toilet before sleep not dry nights. Oxybutynin Therapy Reassure: common, nobody at fault Fluid restriction before bed Double voiding
