Paeds Flashcards
Trisomy 21 Cardiac - VSD, AVSD, ToF Endocrine - HypoThy, Addisons, T1DM Ocular - cataracts Malignancy - Leukaemia GI -duodenal atresia, Hirschprungs Musk - Atlanto-axial instability Neuro - Alzheimers
Down’s (complications)
Genetic imprinting - Loss of some of paternal chromosome 15
Px -Hypotonia, hypogonadism, obesity
Prader-Willi
X linked.
Px - Long face, big ears, macroorchidism, LD’s
Fragile x
CATCH 22 Cardiac Abnormal facies Thymic aplasia Cleft lip HypoCa
DiGeorge
Ax - Trisomy 13
Px - Microcephalic, small eyes, cleft lip/palate, polydactyly, scalp lesions (progression of features?)
Patau’s
Ax - Trisomy 18
Px - Micrognathia (overbite)/small chin, low ears, rocker bottom feet, overlapping of fingers
Edwards
Ax - Def in galactose-1-phosphate uridyl transferase
Px - Illness with lactose containg milks. Vomiting, cataracts and recurrent E.coli infx
Galactosaemia
Ax - Autosomal dominant
Px - Tall, arm span>Ht, Long thin fingers, scoliosis, pectus excavatum.
Marfan’s
Ax - Autosomal recessive. Def phenylalinine hydroxylase
Ix - newborn bld spot screening
Phenylketonuria
Ax - Dystrophin gene abnormality. X-linked
Px - delayed development+walking
Duchennes’
Ax- def in hormones that convert sex hormones to cortisol
Px - ambiguous genitalia (accumulation of sex hormones), Salt losing crisis (lack of cortisol) i.e. low glucose and vomiting, hirsuitism, early menarche, large stature
Tx - IV dextrose and hydrocortisone
Congenital adrenal hyperplasia
Ax - Autosomal dominant
Px - Webbed neck, Pec Excav, short, pulmonary stenosis
Noonan’s
Px - micrognathia, cleft palate
Pierre-Robin
Px - Short, LD’s, friendly, aortic stenosis, neonatal hyperCa
William’s
Jaundice <24hrs
Px -
Immune: Rheus/ABO incompatibility
RBC defect: G6PD def, pyruvate kindse def, hered sphere
Infx
Jaundice 24hrs-2wks
Physiological, breast milk, infx, excess haemolysis
Persitant jaundice >2wks
Unconjugated: breast mil, infx, ABO incompatibility, hypothyroidism, galactosaemia
Conjugated: biliary atresia, neonatal hepatitis
Biliary atresia
Px - prolonged jaundice >2ks dark urine, pale stools
Mx - surgical
NB diagnoses after 6wks compromises outcome
Group B strep
can colonize reproductive tract and can infx baby
Px - respiratory distress syndrome, ground glass CXR
Ax - immature T2 pneumocytes
Mx - artificial surfactant, venti
Surfactant def
Ax - Parvovirus B19
Px - lethargy, fever, headache, slapped-cheek spreading to proximal arms and extensor sufaces
erythema infectiosum/slapped cheek/fifth disease
Ax - VZV
Px - Multistaged mac/pap/vesicular rash starting on head/trunk before spreading globally
Chicken pox
Ax - measles virus
Px - prodrome of fever, irritability, conjunctivitis, rash starting behind ears and spreading globally, macpap to confluent
NB Kopliks spots
Measles
Ax - mumps
Px - fever, muscle pain, pain on eating/earache, parotitis, unilateral and becoming bilateral in 70%
Mumps
Ax - Rubella virus
Px - macpap rash spreading globally and usually fades by day 3-5, suboccipital and postauricular LN’s
Rubella
Ax - toxins produced by GAS
Px - fever, malaise, tonsilitis (strep throat), fine punctate rash sparing peri-oral area (sandpaper texture), strawberry tongue
Scarlet fever
Ax - Coxsackie A16
Px - Vesicles on mouth, hand and feet
Hand, foot and mouth disease
Down’s diagnosis
karyotyping
VACTERL
Vertebral, anal imperforation, cardiac, tracheo-oesophageal fistula, renal, limb anomalies
Neonatal cardiology
Cyanotic: transposition of the great arteries, tetralogy of fallot,
Acyanotic: VSD, Aortic stenosis, AVSD, coarction of the aorta
Tetralogy of Fallot
VSD, Rt ventricular outflow obstruction, RV hypertrophy, overriding aorta
Transposition of the great arteries
PDA sustaining life
Mx - prostaglandin infusion and surgical intervention
Autoimmune hepatitis
Ax - anti -smooth muscle Abs
Coeliac’s
Px - diarrhoea, malabsorption (buttocks wasting)
Acute epiglottitis
Ax - HiB infx
Px - rapid onset, fever, toxic look, stridor, drooling of saliva
Ax - Human herpes virus 6
Px - 3-5 day high fever, 2 day macpap rash on chest and limbs, cough, D, febrile convulsions
Roseola infantum
Meningitis <3mnths
GBS (low birth wt+Prolonged ROM)
also E.coli+Listeria
Meningitis 1mnth-6yrs
N.men
Strep.pneu
Haemophilus.inf
Menigitis >6yrs
N.men
Strep.p
Autosomal recessive
Metabolic
exceptions=inherited ataxia’s
Autosomal dominant
structural
exceptions=Gilbert’s
Ax - parainfluenza infx
Epx - 6mnths-3yrs
Px - Stridor, barking cough, fever, coryzal Sx
Mx - PO dexamethasone, O2+adrenaline in emergency
Croup
Adrenaline for anaphylaxis ages and doses
<6yrs = 150mcg 6-12 = 300mcg >12yrs = 500mcg
Ax - IgA mediated small vessel vasculitis
Px - Palpable purpuric rash, abdo pain, usually following infx, polyarthritis, haematuria, renal failure
Henoch-Schonlein purpura
Develpmental dysplasia of the hip
RF: female, breech, FHx, oligohydramnios, macrosomaly
Ix - Barlow + Ortolani, US
Mx - Spont stabilise by 3-6wks, Pavliks harness, Surgery
Rose spots in non bloody diarrhoea
Salmonella typhi
BCG vaccine
At birth
Hepatitis B
At birth if rsk factors
DTap/IPV/Hib
Diptheria, tetanus, acellular pertussis/inactivated polio vaccine/Haemophilus influenza B vaccine
2mnths
3mnths
4mnths
PCV
Pneumococcal conjugate vaccine
2mnths
4mnths
12-13mnths
Oral rotavirus vaccine
2mnths
3mnths
Men B
2mnths
4mnths
12-13mnths
Hib
2mnths
3mnths
4mnths
12-13mnths
Men C
12-13mnths
Flu vaccine
2-7yrs
MMR
12-13mnths
3-4yrs
DTaP/IPV
2mnths 3mnths 4mnths 3-4yrs 13-18yrs
HPV vaccination
12-13yrs
Thx for impetigo
Fusidic acid