PAEDS Flashcards
amblyopia.
When this occurs in childhood, before the eyes have fully established their neural connections, the brain will cope with this by redirecting the signal from the misaligned eye. This results in one eye they use to see the “dominant eye” and the one eye that they ignore “the lazy eye”. If not treated then this “lazy eye” becomes progressively more disconnected from the brain- over time worsening the situation.
Concomitant squints
due to differences in the control of the extra ocular muscles
Typical features of an innocent murmur?
o Soft o Short o Systolic o Symptomless o Situation dependent- Particularly when the murmurs get quieter with standing or appear when the child is unwell
Symptoms promoting further investigation by a pads consultant if murmur present?
o Murmur louder than 2/6 o Diastolic murmurs o Louder on standing o Other symptoms such as: Failure to thrive Feeding issues Cyanosis SOB
What murmur is heard with ASD?
• Cause a mid-systolic, crescendo-decresendo murmur, loudest at the left sternal border, with a fixed split second HS.
Why does the split second HS occur in ASD?
• Splitting of the 2nd heart sound also occurs as the aortic valve and pulmonary valves close at slightly different times as a larger volume of fluid passes through the pulmonary valve. This is “fixed split” it does not vary on inspiration and expiration (normal to occur in some on inspiration)
What key complication of ASD can occur? - for exam sake
o Can present with patient with VTE presenting with massive stroke Need to identify that the patient may have had a life long ASD asymptomatic and therefore clot could have bypassed the lungs getting straight to the brain
What genetic conditions is VSD associated with?
They can occur in isolation but are commonly associated with Down’s syndrome and Turner’s syndrome.
Would a loud or quiet pan-systolic murmur with VSD suggest its larger?
Quiet!
Management of Eisenmenger syndrome?
• Once the PP is high enough to cause the syndrome. It is not possible to reverse this condition.
• The only definitive treatment Heart lung transplant (BUT V.High mortality and donor match is rare)
• Medical management:
o Oxygen
o Treat pulmonary HTN with Sildenafil(phosphodiesterase type5 Inhibitor- leads to vasodilation in the lungs)
o Treatment of arrythmias
o Treatment of polycythemia with venesection
o Prevent and treat thrombosis with anti-coag
o Prevent infective endocarditis with Abx.
Jones criteria for diagnosis of RF
Jones criteria for diagnosis: • Diagnosis of RF made with evidence of recent strep infection with: o Two major or o One major and two minor criteria: (JONES FEAR) • Major criteria: o Joints o Organ inflammation (carditis) o Nodules o Erythema marginatum rash o Syndenham chorea • Minor criteria: o Fever o ECG (prolonged PR) o Arthralgia- without arthritis o Raised inflammatory markers (CRP and ESR)
Cause of RF?
- RF is caused by group A Beta-haemolytic strep, typically strep pyogenes causing tonsilitis.
- The immune system creates Ab to fight infection, but these target antigens not ony found on the bacteria but also the cells of the body- ie the myocardium of the heart
- This leads to a TYPE 2 HYPERSENITIVITY REACTION, with the immune system attacking cells throughout the body. Process is usually delayed (2-4 weeks PI)
Treatment of strep throat?
Phenoxymethylpenicilin (penicillin V) for 10 days
Treatment of RF symptoms?
NSAIDs (e.g. ibuprofen) are helpful for treating joint pain
Aspirin and steroids are used to treat carditis
Prophylactic antibiotics (oral or intramuscular penicillin) are used to prevent further streptococcal infections and recurrence of the rheumatic fever. These are continued into adulthood.
Monitoring and management of complications
Complications of RF?
Recurrence of rheumatic fever
Valvular heart disease, most notably mitral stenosis
Chronic heart failure
Patients with which CHD disease are at higher risk of developing sub acute infective endocarditis?
The risk is highest when there is a turbulent jet of blood, VSD, cortication of the aorta, PDA or if prosthetic material has been inserted during surgery.
What scoring system can be used to diagnose IE?
Dukes modified criteria
What is colic?
• Paroxsymal, inconsolable crying or screaming accompanied by drawing up of the knees and excessive flatulence takes place several times a day.
In the first months of life
How many babies experience colic?
40%
REDCURRANT JELLY STOOL
Intussuception
When would you need a stool culture with GE?
• Stool culture needed if:
o the child appears septic
o Blood/mucus in stools
o Child is immunocompromised
Most common cause of GE in children?
Rotavirus
Most common bacterial cause of GE? Key symptom?
Campylobacter- severe abdo pain
Oral rehydration regime?
50 ml/kg over 4hrs to replace deficit plus then maintenance fluid
How do you calculate maintenance fluid volumes?
Child’s Weight (kg) Fluid requirement for 24 hours
0-10kg 100ml/kg/day
10-20kg Requirement for the 1st 10kg (i.e. 1000ml)+ 50ml/kg/day
>20kg Requirement for the 1st 20kg (i.e.1500ml) + 20ml/kg/day
What are the 2 key Ab found in coeliac disease?
- Anti-tissue transglutaminase (anti-TTG)
* Anti- endomysial (anti-EMA)
Hirschsprung’s disease?
Hirschsprung’s disease is a congenital condition in which the nerve cells of tbe myenteric plexus are absent in the distal bowel and rectum
What are the criteria for faltering growth?
- One or more centile spaces if their BW was under the 9th centile
- Two or more centile spaces if their BW was between the 9th and 91st centile
- Three or more centile spaces if their BW was over the 91st centile
High conjugated bilirubin causes?
Bile duct obstruction (Biliary atresia, choleductal cyst)
Neonatal hepatitis syndrome
Intrahepatic biliary hypoplasia
Alagille syndrome?
• This is a very rare AD (JAG1/NOTCH2) condition with widely varying penetrance even within families
• Clinical presentation:
o Triangular faces:
People with Alagille syndrome may have distinctive facial features too, including a broad, prominent forehead, deep-set eyes, and a small, pointed chin
o Skeletal abnormalities (butterfly vertebrae)
o CHD (classically peripheral pulmonary stenosis)
o Renal tubular disorders
o Defects in the eye
• Affects the liver through:
o Causing fewer and smaller bile ducts in the liver
o Leads to liver and scarring
• Infants may be profoundly cholestatic with severe pruritis and faltering growth
• Identifying the gene mutations confirms the diagnosis
• Treatment is to provide nutrition and fat soluble vitamins
• Pruritus is profound and difficult to manage
• A small no. will need liver transplant, but most survive to adult hood
• Mortality is usually secondary to the cardiac disease
What is phenotype is classically associated with alpha 1-antitrypsin?
PiZZ
Treatment of Hep C infection?
Pegylated interferon and ribavirin
Antiviral treatment for Hep B?
lamivudine and adefovir
What virus presents in 40% with hepatosplenomegaly?
EBV
What is the classic triad found in nephrotic syndrome?
- Low serum albumin
- High urine protein content
- Oedema
What causes Haemolytic uraemic syndrome?
Shiga toxin- shigella or E.coli 0157
What makes up the triad of symptoms seen in Haemolytic uraemic syndrome?
o Haemolytic anaemia: Anaemia caused by the RBCs being destroyed
o AKI: Failure of the kidneys to excrete waste products such as urea
o Thrombocytopenia: Low platelet count
Inactive vaccines
• Non-live version of the vaccines- cannot cause and infection and safe for immunocompromised patients even if they do not have an adequate response: o Polio o Flu vaccine o Hep A o Rabies
Subunit and conjugate vaccines:
• Only contain the part of the virus used to stimulate an immune response. They cannot cause infection and are safe to use in immunocompromised patients. Examples: o Pneumococcus o Meningococcus o Hep B o Pertussis o HiB o HPV o Shingles (HZV)
Live attenuated vaccines:
• Contain a weakened for of the pathogen, unsafe in the immunocompromised as can still cause infection: o MMR o VZV o Nasal influenzae vaccine o BCG o Rotavirus
Toxin vaccines:
• Contain a toxin normally produced by the pathogen, lead to immunity for the toxin, not the pathogen itself:
o Diptheria
o Tetanus
Women are now given a booster at 20 weeks for which virus?
Whooping cough-bordatella pertussis
Types of abuse:
- Physical
- Emotional
- Sexual
- Neglect
RF for abuse:
- Domestic violence
- Previously abused parent
- MH problems
- Emotional volatility in the household
- Social, psychological or economic stress
- Disability in the child
- Learning disability in the parents
Child abuse
Any form of maltreatment of a child inflicting harm or by failing to act to prevent harm
Klinefelter syndrome
47 XXY
Features of klinefelter syndrome?
o Taller height o Wider hips o Gynaecomastia o Weaker muscles o Small testicles o Reduced libido o Shyness o Infertility o Subtle learning difficulties (particularly speech and language)
Mx of Klinefelter syndrome?
• Diagnosis with karyotyping
• There is no way to treat underlying genetics causing Klinefelter syndrome. Treatment aims to help with features of the condition:
o Testosterone injections may improve many of the symptoms
o Advanced IVF techniques Have the potential to allow for fertility
o Breast reduction surgery- for cosmetic purposes
• MDT input:
o SALT
o OT- daily tasks
o Physio- strengthen muscles and joints
o Educational support- where required for dyslexia and other learning difficulties
Turners syndrome
a single X chromosome making them X0
Features of turners?
• Short stature
• Webbed neck
• High arching palate
• Down warding sloping eyes with ptosis
• Broad chest with widely spaced nipples
• Cubitus valgus
o This is an abnormal feature of the elbow. The arm is extended downwards with the palms facing forward, the angle of the forearm at the elbow is exaggerated, angled away from the body.
• Underdeveloped ovaries with reduced function
• Late or incomplete puberty
• Most women are infertile
Associated conditions, turners?
- Recurrent otitis media
- Recurrent UTIs
- Cortication of the aorta
- Hypothyroidism
- HTN
- Obesity
- Diabetes
- Osteoporosis
- Various specific learning disabilities.
Turner’s syndrome?
a single X chromosome making them 45X0 (50%) in others there is deletion of the short arm of one of the X chromosomes.
Turner’s features?
• Short stature • Webbed neck • High arching palate • Down warding sloping eyes with ptosis • Broad chest with widely spaced nipples • Cubitus valgus o This is an abnormal feature of the elbow. The arm is extended downwards with the palms facing forward, the angle of the forearm at the elbow is exaggerated, angled away from the body. • Underdeveloped ovaries with reduced function (primary amenorrhoea) • Late or incomplete puberty • Most women are infertile • Short 4th metacarpal • Multiple pigmented naevi • Lymphoedema in neonates
Associated conditions turners?
- Recurrent otitis media
- Recurrent UTIs
- Cortication of the aorta (5-10%), Bicuspid aortic valve (15%)
- Hypothyroidism
- Horseshoe kidney
- Increased risk of AI disease
- HTN
- Obesity
- Diabetes
- Osteoporosis
- Various specific learning disabilities.
Management of Turners?
There is no way to treat the underlying genetic cause of Turners syndrome. Treatment aims to help with the symptoms of the condition:
o Growth hormone therapy
o Oestrogen and progesterone
o Fertility treatment
Patients need monitoring for the associated conditions and complications. Treatable conditions such as HTN and Hypothyroidism should be managed appropriately.
Combined test for Down’s
• The combined test is the first line, most accurate and the best choice if available.
• Performed between 11 and 14 weeks gestation
• US to measure the nuchal translucency, which is the thickness of the back of neck of the foetus.
o Nuchal thickness is >6mm.
• Maternal blood tests:
o Beta- HCG. Higher level leads to increased risk of Down’s syndrome
o Pregnancy-associated plasma protein- A (PAPPA) lower high risk
Triple test for Down’s syndrome?
• Performed between 14 and 20 weeks gestation. Involves only the maternal blood tests.
• Maternal Blood tests:
o Beta- HCG (higher result is a higher risk)
o Alpha Foetoprotein (AFP). A lower result Higher risk.
o Serum oestriol (female sex hormone). A lower result indicates a greater risk.
