paeds Flashcards
what is MODY?
Maturity-onset diabetes of the young (MODY)
characterised by the development of type 2 diabetes mellitus in patients < 25 years old
autosomal dominant
what sort of diet show someone with CF be on?
high calorie and high fat woth pancreatic enzyme supplmentation for every meal
what is a poor diagnosis of congential diagmphragmic hernia? (CDH)
if the liver has herniated into the chest
lung to head ratio, a ration>1 is good
is that a chance that CHD can reoccur?
yes
which side of the chest is CHD more common on?
left
85% of cases occur on the left, 13% on the right and 2% bilaterally.
what are the risk factors of CHD?
ulmonary hypertension, rather than systemic hypertension, is a risk of CDH.
There is increased risk where there is a positive family history in a sibling.
what can CHD cause?
pulmonary hypoplasia and hypertension which causes respiratory distress shortly after birth.
what is the survuval rate of CHD?
Only around 50% of newborns with CDH survive despite modern medical intervention.
Transient synovitis
Acute onset
Usually accompanies viral infections, but the child is well or has a mild fever
More common in boys, aged 2-12 years
Septic arthritis/osteomyelitis
Unwell child, high fever
Juvenile idiopathic arthritis
Limp may be painless
Development dysplasia of the hip (DDH)
a discrepancy between the skin creases behind the right and left hips
risk factors: female sex: 6 times greater risk breech presentation positive family history firstborn children oligohydramnios birth weight > 5 kg congenital calcaneovalgus foot deformity
Perthes disease
More common at 4-8 years
Due to avascular necrosis of the femoral head
Slipped upper femoral epiphysis
10-15 years - Displacement of the femoral head epiphysis postero-inferiorly.
Knee pain
what is epistaxis?
acute hemorrhage from the nostril, nasal cavity, or nasopharynx
what are the causes of epistaxis?
nose picking (most common cause)
foreign body
upper respiratory tract infection
allergic rhinitis
is epistaxis common in under 2s?
it is recommend referring children under the age of 2 years as epistaxis is rare in this age group and may be secondary to trauma or bleeding disorders.
what is Kawasaki disease?
a type of vasculitis which is predominately seen in children
features of Kawasaki disease?
high-grade fever which lasts for > 5 days. Fever is characteristically resistant to antipyretics
conjunctival injection
bright red, cracked lips
strawberry tongue
cervical lymphadenopathy
red palms of the hands and the soles of the feet which later peel
what is ther management of Kawasaki disease?
high-dose aspirin*
intravenous immunoglobulin
echocardiogram (no radiation) (rather than angiography) is used as the initial screening test for coronary artery aneurysms
what is a cause of neonatal hypotonia?
Prader-Willi
neonatal sepsis
spinal muscular atrophy (Werdnig-Hoffman disease)
hypothyroidism
age of child from newborn to a toddler
newborn=till one day 1-7 days = early neonate 7-28 days late neonate 28 days-1year = infant 1-3 yar = toddler
what is haemophilia A?
X-linked recessive so only affects the male
need two ‘affected’ x chromosomes to get it.
nots on x linked recessive
In X-linked recessive inheritance only males are affected.
An exception to this seen in examinations are patients with Turner’s syndrome, who are affected due to only having one X chromosome.
X-linked recessive disorders are transmitted by heterozygote females (carriers) and male-to-male transmission is not seen. Affected males can only have unaffected sons and carrier daughters.
Each male child of a heterozygous female carrier has a 50% chance of being affected whilst each female child of a heterozygous female carrier has a 50% chance of being a carrier.
The possibility of an affected father having children with a heterozygous female carrier is generally speaking extremely rare. However, in certain Afro-Caribbean communities G6PD deficiency is relatively common and homozygous females with clinical manifestations of the enzyme defect are seen.
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
treatment of intussuception?
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
asthema management in childern over than 5?
SABA–>ICS–>LTRA–>LABA
what is MART?
form of combined ICS and LABA treatment in which a single inhaler, containing both ICS and a fast-acting LABA, is used for both daily maintenance therapy and the relief of symptoms as required
MART is only available for ICS and LABA combinations in which the LABA has a fast-acting component (for example, formoterol)
What is transient tachypnoea of the newborn?
Transient tachypnoea of the newborn (TTN) is the commonest cause of respiratory distress in the newborn period. It is caused by delayed resorption of fluid in the lungs. No cynosis
what us the cause of transietn tachypnoea of the newborn?
common following Caesarean sections, possibly due to the lung fluid not being ‘squeezed out’ during the passage through the birth canal
investigation and managemnet og TTN?
Chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure
Supplementary oxygen may be required to maintain oxygen saturations. Transient tachypnoea of the newborn usually settles within 1-2 days
are childron with Down’s prone to snorking?
yes, sleep apnoea
This is due to the low muscle tone in the upper airways and large tongue/adenoids. There is also an increased risk of obesity which in people with Down’s syndrome which is another predisposing factor to snoring.
causes of snoring in children?
obesity nasal problems: polyps, deviated septum, hypertrophic nasal turbinates recurrent tonsillitis Down's syndrome hypothyroidism
what is Ebstein’s anomaly?
when the posterior leaflets of the tricuspid valve are displaced anteriorly towards the apex of the right ventricle
what murmurs are heard in Ebstein’s anomaly?
tricuspid regurgitation (pan-systolic murmur) and tricuspid stenosis (mid-diastolic murmur).
does Ebstein’s anomaly cause right atrium enlargement?
yes
what causes Ebstein’s anomaly?
lithium use in pregnancy
what is Hischprung’s dosease?
a congenital abnormality causing the absence of ganglionic cells in the mycenteric and submucosal plexuses.
what are the symptons of Hirschprung’s?
delayed passage of meconium (> 2 days after birth), abdominal distension and bilious vomiting.
treatment of hirschprung’s?
daily rectal washouts
anorectal pull-through
what is the definitive investigation of Hirschprung’s?
rectal biopsy
Malrotation
High caecum at the midline
Feature in exomphalos, congenital diaphragmatic hernia, intrinsic duodenal atresia
May be complicated by the development of volvulus, an infant with volvulus may have bile stained vomiting
Diagnosis is made by upper GI contrast study and USS
Treatment is by laparotomy, if volvulus is present (or at high risk of occurring then a Ladd’s procedure is performed
Intussusception
Telescoping bowel
Proximal to or at the level of, ileocaecal valve
6-9 months of age
Colicky pain, diarrhoea and vomiting, sausage-shaped mass, red jelly stool.
Treatment: reduction with air insufflation
Pyloric stenosis
M>F
5-10% Family history in parents
Projectile non bile stained vomiting at 4-6 weeks of life
Diagnosis is made by test feed or USS
Treatment: Ramstedt pyloromyotomy (open or laparoscopic)
Hirschsprung’s disease
Absence of ganglion cells from myenteric and submucosal plexuses
Occurs in 1/5000 births
Full-thickness rectal biopsy for diagnosis
Delayed passage of meconium and abdominal distension
Treatment is with rectal washouts initially, after that an anorectal pull through procedure
Oesophageal atresia
Associated with tracheo-oesophageal fistula and polyhydramnios
May present with choking and cyanotic spells following aspiration
VACTERL associations
Meconium ileus
Usually delayed passage of meconium and abdominal distension
The majority have cystic fibrosis
X-Rays will not show a fluid level as the meconium is viscid, PR contrast studies may dislodge meconium plugs and be therapeutic
Infants who do not respond to PR contrast and NG N-acetyl cysteine will require surgery to remove the plugs
Biliary atresia
Jaundice > 14 days
Increased conjugated bilirubin
Urgent Kasai procedure
Necrotising enterocolitis
Prematurity is the main risk factor
Early features include abdominal distension and passage of bloody stools
X-Rays may show pneumatosis intestinalis and evidence of free air
Increased risk when empirical antibiotics are given to infants beyond 5 days
Treatment is with total gut rest and TPN, babies with perforations will require laparotomy
