Paeds Endocrinology + Gastroenterology Flashcards
name the three phases of growth
- infant
- childhood
- pubertal
name some causes for symmetrical SGA?
mother is small or chromosomal abnormalities
name some causes of asymmetrical SGA?
smoking, alcohol, drugs
placental issues (e.g. insufficiency)
name the two important hormones in growth
growth hormone and thyroid hormone
how can growth hormones deficiency present? in neonates and older children
neonates:
- micropenis
- hypoglycaemia
- severe jaundice
older infants:
- poor growth (slowing from age 2/3)
- short stature
- slow development of movement and strength
- delayed puberty
names the causes of short stature?
chronic disease e.g. coeliac
GH deficiency
skeletal dysplasia
syndromes e.g. turner, down, prader-willi
endocrine e.g. hypothyroidism, hypopituitarism, cushings
psychosocial e.g. child abuse (pituitary shuts down)
what Ix would be done to check for causes of short stature?
- growth hormone stimulation test -> stimulate growth hormone release by glucagon, insulin, arginine or clonidine and measure levels of GH.
- test for adrenal or thyroid deficiency
- MRI brain - structural pituitary or hypothalamus abnormalities
- genetic testing - prader-willi, turner
- xray - DEXA scan can determine bone age
Tx for growth hormone deficiency?
- daily subcut injections of growth hormone (somatropin)
- Tx of other hormone deficiencies
- monitoring of height and development
how is congenital hypothyroidism screened for these days?
newborn blood spot screening test
what are teh features of congenital hypothyroidism?
Prolonged neonatal jaundice
Poor feeding
Constipation
Increased sleeping
Reduced activity
Slow growth and development
ix for congenital hypothyroidism?
TFTs (TSH, T3, T4)
thyroid USS
thyroid antibodies
tx of congenital hypothyroidism?
levothyroxine
what is the most common cause of acquired hypothyroidism?
hashimoto’s (autoimmune thyroiditis)
what does the newborn blood spot screening test pick up?
- phenylketonuria
- congenital hypothyroidism
- medium chain acyl-coA-dehydrogenase deficiency (MCADD)
- sickle cell disease
- cystic fibrosis
name some lfiestyle facttors that can cause constipation?
- habitually not opening bowels
- low fibre diet
- poor fluid intake and dehydration
- sedentary lfiestyle
- psychosocial problems
secondary cuases of constipation in children?
hirschsprungs disease
cystic fibrosis (meconium ileus in particular)
hypothyroidism
spinal cord lesions
sexual abuse
intenstinal osbtruction
anal stenosis
cows milk intolerance
complications of constipation?
- pain
- reduced sensation
- anal fissures
- heamorrhoids
- overflow an soiling
- psychosocial morbidity
Mx of primary constipation?
- treat reversible lifestyle factors
- start laxatives (movicol first line)
- faecal impaction may require disimpaction regimen with high doses of laxatives at first
- bowel diary, star charts, encourage opening bowels
what is hirschsprungs disease?
birth defect in which some nerve cells are absent in distal bowel and rectum = obstruction in bowel
what other syndromes is hirschsprungs associated with?
- downs syndrome
- neurofibromatosis
- waardenburg syndrome
- multiple endocrine neoplasia type II
presentations of hirschsprungs disease?
- delay in passing meconium (>24hrs)
- chronic constipation since birth
- abdo pain and distention
- vomiting
- poor weight gain and failure to thrive
what is hirschsprung associated enterocolitis?
inflammation and obstruction of intestine
presents 2-4 wks after birth with features of hisrchsprungs + fever +/- sepsis
can lead to toxic megacolon and bowel perforation
Tx of hirschsprung associated entercolitis?
abx
fluid resus
decompression of obstructed bowel
Ix for hirschsprungs disease?
AXR
rectal biopsy (gold standard) - look at bowel histology
Mx of hirschsprungs disease?
- surgical removal of aganglionic section of bowel
presentation of coeliac disease in children?
- failure to thrive
- diarrhoea
- fatigue
- weight loss
- mouth ulcers
- anaemia secondary to b12, iron or folate deficiency
- dermatitis herpetiformis
how is a diagnosis of coeliacs given.?
Ix to be carried out whilst pt is on a diet containing gluten
- check total immunoglobulin A levels to exclude IgA deficiency
- check for raised anti-TTG antibodies
- endoscopy and intestinal biopsy show crypt hypertrophy and villous atrophy
coeliacs tx?
gluten free diet
what is biliary atresia?
congenital condition where a section of the bile duct is either narrows or absent
how does biliary atresia present?
shortly after birth with jaundice (lasting longer than 14 days)
Mx of biliary atresia?
- Kasai portoenterostomy surgery
= attaching section of small intestine to opening of liver where bile duct normally attaches
often pts will require liver transplant at some point in life to resolve condition
signs of GORD in children under 1yo?
- chronic cough
- hoarse cry
- distress, crying or unsettled after feeding
- reluctance to feed
- pneumonia
- poor weight gain
signs of GORD in children over 1yo?
- heartburn
- acid regurg
- retrosternal or epigastric pain
- bloating
- nocturnal cough
Mx of GORD in children?
- small frequent meals
- burping regularly to help milk settle
- not over feeding
- keep baby upright after feeding
+/- gaviscon with feeds
+/- PPIs if nothing else works
what ix are done to diagnose GORD In children?
only investigate serious cases:
- barium meals
- endoscopy
what is pyloric stenosis?
congenital condition that cuases hypertrophy of the pylorus and obstruction
presentation of pyloric stenosis in a child?
- presents 2-8 weeks
- failing to thrive
- projectile vomiting
- hungry, thin baby
- firm round mass felt in RUQ
- blood gas shows hypochloric metabolic alkalosis
how is a diagnosis of pyloric stenosis made?
- abdo USS
Tx of pyloric stenosis
laparoscopic pyloromyotomy - widen pylorus
red flags in children who are vomiting
- bile stained vomit (intestinal obstruction)
- haemetemesis (oesophagitis, peptic ulceration)
- projectile vomiting in first few wks of life (pyloric stenosis)
- abdo distention (intestinal obstruction)
- blood in stool (intussusception)
- faltering growth (GORD, coeliac)
- abdo tenderness/ppain on movement (surgical abdomen)
name some causes of vomiting in children?
- GORD
- pyloric stenosis
- hirschsprungs
- gastroenteritis
- food allergy
- intussuscpetion
- atresia
- malrotation
- volvulus
- strangluates inguinal hernia
- coeliacs
red flags for abdo pain?
- persistent or bilious vomiting
- severe chronic diarrhoea
- fever
- rectal bleeding
- weight loss or failure to thrive
- dysphagia
- nighttime pain
= abdo tenderness
signs and symptoms of appendicitis?
- abdo pain (starts at umbilicus and moves to RIF)
- tenderness at mcburneys point
- loss of appetite (anorexia)
- n+v
- rovsings sign
- rebound + percussion tenderness
- fever
how is appendicitis diagnosed?
clinical presentation and raised inflammatory markers
+ CT or USS
if nothing found on imaging then diagnostic laparosocpy performed
key differentials for appendicitis?
- ectopic
- ovarian cysts
- meckels diverticulum
- mesenteric adenitis
- appendix mass
Mx of appendicits?
appendicectomy (laparascopically)
what is intussusception?
when a portion of bowel telescopes into itselfs (usually the ileum into the caecum at ileocaecal valve)
typically occurs 6 months to 2yo
presentation of a child with intussuception?
- severe colicky abdo pain
- pale, lethergic and unwell
- recurrant jelly stool
- RUQ mass on palpation (sausage shaped)
- vomiting
- intestinal obstruction
Ix for intussusception?
- USS or contrast enema
Tx for intussusception?
air enema
(if peritonitic then surgical resection needeD)
complications of intussusception
- obstruction
- gangrenous bowel
- perforation
- death
what is meckels diverticulum?
ileal remnant of the vitello-intestinal duct that contains ectopic gastric mucosa or pancreatic tissue
Ix for meckel’s diverticulum?
technetium scan > shows increased uptake by ectopic gastric mucosa
Tx fro meckels diverticulum
surgical resection
how does malrotation present in a child?
bilious vomiting in first few days of life
(dark green vomiting)
Ix to diagnose malrotation?
urgent upper GI contrast (if signs of vascular compromise then urgent laparotomy)
tx for malrotation
surgical correction
causes of intestinal obstruction?
- meconium ileus
- hirschsprungs disease
- oesophageal atresia
- duodenal atresia
- intussusception
- imperforate anus
- malrotation of intestines with volvulus
- strangulated hernia
presentation od a child with intestinal obstruction
persistent vomiting (may be bilious)
abdo pain and distention
failure to pass stools or win s
abnormal bowel sounds (high pitched, tinkling or absent)
Ix for a child with intestinal obstruction
- AXR > shows dilated loops of bowel proximal to obstruction and collapsed bowel distal to obstruction + absence of air in rectum
Mx of intestinal obstruction
NBM and insert nasogastric tube
IV fluids
await definitive Mx for underlying ccause
signs of symptoms of a child with IBD?
- diarrhoea
- abdo pain
- rectal bleeding
- weight loss
- anaemia
- during flares > fevers, malaise, dehydration
name some extra-intestinal manifestations of IBD?
- finger clubbing
- erythema nodosum
- pyoderma gangrenosum
- episcleritis and iritis
- inflammatory arthritis
- primary sclerosing cholangitis
how to test for IBD?
- CRP (shld be raised)
- faecal calprotectin (raised)
- endoscopy > OGD and colonoscopy (gold standard)
- imaging > US, CT, MRI (fistulas, abscesses, strictures)
Tx for crohns
inducing: steroids (oral prednis or IV hydrocortisone)
maintenance: azathioprine
surgery if particular area severely affected
Tx for UC?
inducing: mesalazine or corticosteroids
maintenance: mesalazine or azathioprine
surgery: remove colon and rectum
what is congenital adrenal hyperplasia?
congenital deficiency causing underproduction of cortisol and aldosterone and overproduction of androgens (inherited by autosomal recessive pattern)
how can congenital adrenal hyperplasia present in females?
ambiguous genitalia and an enlarged clitoris due to high testosterone levels
less severe present at puberty with:
- tall for their age
- facial hair
- absent periods
- deep voice
- early puberty
how can males with congenital adrenal hyperplasia present?
at puberty:
- tall for their age
- deep voice
- large penis
- small testicles
- early puberty
hoe can severe congenital adrenal hyperplasia present shortly after birth?
- hyponatraemia
- hyperkalaemia
- hypoglycaemia
= poor feeding
= vomiting
= dehydration
= arrythmias
tx of congenital adrenal hyperplasia?
- cortisol replacment, with hydrocortisone
- aldosterone replacement with fludrocortisone
- females pts with virilised genitalia may require corrective surgery
features of adrenal insufficiency in babies?
- lethargy
- vomiting
- poor feeding
- hypoglycaemia
- jaundice
- failure to thrive
features of adrenal insufficiency in older children?
- n+v
- poor weight gain or weight loss
- reduced appetite
- abdo pain
- muscle weakness or cramps
- developmental delay or poor academic performance
- bronze hyperpigmentation (from high ACTH)
Ix to diagnose addisons
-U+Es (hyponatraemia and hyperkalaemia)
- blood glucose (hypoglycaemia)
test: cortisol, ACTH, aldosterone, renin levels
short synacthen test > give synacthen (synthetic ACTH) and failure of cortisol to rise after 30 and 60 mins = primary adrenal insufficiency
Mx of adrenal insufficiency
hydrocortisone (glucocorticoid) to replace cortisol
fludrocortisone (mineralocorticoid) to replace aldosterone
given steroid card + steroid doses increased during acute illness
features of an addisonian crisis?
reduced consiousness
hypotension
hypoglycaemia, hyponatraemia, hyperkalaemia
mx of an addisonion crisis?
- intensive monitoring if acutely unwell
- parenteral steroids (IV hydrocortisone)
- IV fluid resus
- correct hypoglycaemia
- careful monitoring of electrolytes and fluid balance
presentation of DKA in children
polyuria
polydipsia
n+v
weight loss
acetone smell to breath
dehydration and hypotension
altered consciousness
symptoms of underlying trigger e.g. sepsis
Ix to complete when suspected DKA
- blood glucose (hyperglyceamia > 11mmol/L)
- blood ketones (ketosis >3 mmol/L)
- ABG (acidosis pH <7.3)
Tx of DKA
correct dehydration slowly over 48 hrs
give fixed rate insulin infusion
add potassium to IV fluids
prevent hypoglycaemia with IV dextrose if glucose falls below 14 mmol/L
Tx of cerebral oedema as consequence of DKA
slowing IV fluids,
IV mannitol
IV hypertonic saline
how do children with type 1 diabetes usually present?
25-50% present in DKA
the rest present with classic triad of symptoms:
- polyuria
- polydipsia
- weight loss
(can also present with secondary enuresis or recurrent infections)
what Ix need to be done in a child who presents with new diagnoses of type 1 diabetes?
- FBC, U+E, lab glucose
- blood cultures (if suspected infection)
- HbA1c
- TFTs + TPO
- anti-TTG anitbodies (associated coeliacs)
- insulin antibodies, anti-GAD antibodies + islet cell antibodies
Mx of type 1 diabetes
- subcut insulin regime
- monitor dietary carb intake
- monitor blood sugar levels
- monitor for + manage complications
short term complications of type 1 diabetes?
hypoglycaemia
hyperglycaemia (and DKA)
long term complications of type 1 diabetes?
macrovascular: HTN, stroke, peripheral ischaemia, coronary artery disease
microvascular: peripheral neuropathy, retinopathy, kidney disease
infection: UTI, pneumonia, skin + soft tissue infect, fungal infections e.g. candidiasis
what is duodenal atresia?
congenital malformation is which the duodenum does not recanalise and therefore is not patent
what are the characteristic signs of duodenal atresia?
bilious vomiting
‘double bubble’ sign on XR
Mx of duodenal atresia?
surgery -> duodenoduodenostomy
Mx of crohns for induction and remission:
induction: corticosteroid (+/- mesalazine/azathioprine or biological agent e.g. infliximab)
remission: azathioprine
Mx of UC for inductiona nd remission:
induction: IV corticosteroids (+/- mesalazine/azathioprine or biological agents e.g. infliximab)
remission: mesalazine/sulfasalazine/azathioprine
