Paeds - Neonate and Development Flashcards
Summarise Paediatric Sepsis
Pathophysiology:
1. Immune system recognises pathogens —>cytokines –> NO –> vasodilation + permeability –>fluid leakage —> Oedema (reduced oxygen access to tissues –> Anaerobic respiration) + reduced intravascular vol. –> Septic shock
- Coagulation system activated –> fibrin used up —> thrombocytopenia + Haemorrhage (DIC)
Presentation:
Deranged obs, prolonged CRT, floppy, reduced GCS, unresponsive, crying, skin colour changes (cyanosis, mottling), poor feeding, resiratory distress, tachynoea, grunting, dry membranes
Mx:
Sepsis 6
+ urine dipstick, CXR is suspect neumonia, LP is suspect meningitis, abdo US is suspect abdo infection, serum cortisol is suspect adrenal crisis
Summarise Down’s Syndrome
Pathophysiology: Trisomy 21 - two copes of chromsome 21
Presentation:
CHILD HAS PROBLEM (Congenital HD/ Cataracts, Hypothyroidism, Increased gap between toe 1 and 2 , Leukaemia, Duodenal atresia/ Deafness, Hirschsprungs , Alzheimers , Squint/ Short neck, Palmar crease, Rolling eye, Occiput flat, Brushfield spots, Low nasal bridge, Epicanthic folds, Myoclonus)
Ix:
Combined test - 11-14 weeks - beta hcg (Raised), PAPPA (low) + NT on US
Triple - 14-20 weeks - beta hcg, alpha fetoprotein (low), oestriol (low)
Quadruple - 14-20 weeks triple + inhibin-A (high)
Using above tests if have high risk then offer CVS (<15 weeks) or amniocentesis for karyotyping
Mx:
MDT
Eye, thyroid, heart and hearing checks
Summarise Klinefelters Syndrome
Pathophysiology: 47 XXY chomosome
Presentation: Tall, small gonads, wide hips, infertility, gynaecomastia, weakness, LD
Mx:
Testosterone SC
Fertility tx
Monitor for DM, breast cancer, OP
Summarise Turner’s syndrome
Pathophysiology: 45 XO
Presentation: short, webbed neck, high arched palate, broad chest and nipples, cubitus valgus, late/ incomplete puberty, recurrent infections, hypothyroid, DM, LD, coarctaction of aorta
Mx: GH, oestrogen and progesterone, fertility tx
Summarise Noonan’s syndrome
AD inheritance
Presentation: Short, big forehead, ptosis and downward sloping eyes, webbed neck, wide nipples, low ears, pectus excavum
Associations: pulmonary stenosis, crytorchidism, LD, bleeding disorders
Summarise Marfans syndrome
Pathophysiology: AD condition affecting fibrillin in connective tissue
Presentation: High arched palate, pes excavatym/ carinatum, tall, long limbs and fingers, hypermobility
Associations: Joint dislocation, spine scoliosis, GORD, pneumothorax, mitral regurg/ aortic regurg, aneurysms, lens dislocation, aortic dissection
Mx: Heart monitoring, BP control, PT, genetic counselling
Summarise Fragile X Syndrome
Pathophysiology: X linked - males more severely affected
Presentation: LD!!, Long, narrow face and large ears, large testicles, hypermobility, hypotonia, ASD, ADHD
Summarise Prader- Willi Syndrome
PAthophysiology: Loss of paternal genes on chromosome 15
Presentation: Hypotonia, hypoonadism, LD, insatiable hunger, almond shaped eyes, strabismus, downturned mouth, narrow forehead
Mx: GH, limit access to food, MDT especially dieticians
Summarise Angelman Syndrome
Pathophysiology: Loss of maternal genes on chromosome 15
Presentation: Fascination with water, ataxia, friendly, flapping hands, seizures, inappropriate laughter, ADHD, microcephaly, wide mouth and wide teeth
Summarise William’s Syndrome
Pathophysiology: Deletion of genetic material on chromosome 7
Presentation: Friendly and trusting personality, starburst eyes, wide spaces between teeth, flattened nasal bridge, broad forehead, small chin
Associations: Supravalvular AS, hypercalcaemia
Mx: MDT plus echo and BP monitoring, low calcium diet
Summarise Prematurity
Definition: <37 weeks
RF: Maternal smoking/ drug use, pmhx, social deprivation, BMI low/ high mother, maternal comorbidities, twins
Prevention: If pmhx of prematurity or Cervix <25mm –> PV progesterone or cerclage
If confirmed preterm labour –> Tocolysis with nifedipine, steroids, MgSO4, delay cord clamping
Complications:
Hypothermia, hypoglycaemia, intraventricular haemorrhage, infections, neonatal jaundice
Retinopathy- Abnormal growth of blood vessels in retina - mx with photocoagulation of the neovascularisation
NEC - Necrotic bowel –> Perforation –> peritonitis and shock - mx by NGT, urgent surgical referral, abx
Apnoea -bradycardia and low sats due to immature autonomic NS - mx with monitoring and tactile stimulation + IV caffeine in apnoea
RDS - Inadequate surfactant - mx with dexa to prevent, intubate, artificial surfactant, CPAP, oxygen
Long term: CLD, LD, RTI, CP
Summarise Congenital syndrome resulting from alcohol/ infections
Alcohol syndrome: Microcephaly, smooth flat philtrum, short distance between eyes
Rubella syndrome: Cataracts, hearing loss, PDA, pulmonary stenosis, LD
Toxoplasmosis: Triad - intracranial calcification, hydrocephalus, chorioretinitis
VZV: Bad for mum and baby - fetal growth restriction, microcephaly, LD, skin changes along the dermatomes, chorioretinitis.
IV Ig if no IgG (lack immunity)- within 10 days
If >20 weeks and present 24 hrs give aciclovir
CMV: FGR, microcephaly, hearing loss, visual loss, LD, seizures
Summarise Developmental Delays
Red flags: Not walking by 18 months Lost milestones No Grip by 5 months Can't sit unsupported by 12 months No words at 18 months No interest in others at 18 months
Global delay: Syndromes (e.g. downs, fetal alcohol), metabolic disorders
Gross Motor: CP, visual issue, ataxia, spina bifida
Fine Motor: CP, visual issue, muscular dystrophy, dyspraxic
Language: Bilinguinal, CP, autism, hearing issue, LD, neglect
Social: Neglect, autism
Summarise Delayed Puberty
Girls: Breast buds first-
Boys: Testicle growth -
Primary amenorrhoea: imperforate hymen, FGM, turners syndrome, androgen insensitivity syndrome, Kallmans, CAH, endocrine issues, chronic health condition, stress, (exercise, anorexia, weight), damage to pituitary, constitutional
Secondary amenorrhoea: stress, PCOS, Ashermans syndrome, thyroid, prolactin, pregnancy, menopause, primary ovarian failure, contraception, pituitary tumour, sheehan’s syndrome, damage to pituitary
Hypogonadtrophic hypogonadism (low LH and FSH): Pituitary damage, GH deficient, Hypothyroidism, Hyperprolactinaemia, chronic illness, excessive exercise/ dieting, constituional, kallmans
Hypergonadotropic Hypogonadism: Turner’s syndrome, PCOS, Kleinfelters, damage to gonads eg torsion, infection
Ix:
FBC, ferritin (anaemia), UE (CKA), Anti-TTG/ anti-EMA (coeliacs), FSH and LH, TFT, prolactin, insulin-like GF I
Genetic trsting with microarray
XR if constituional delay
Pelvic US for structual issues
MRI brain for pituitary pathology and Kallamans
