Conditions List Flashcards
Gives a brief overview (Epidemiology, Aetiology/Pathophysiology, Symptoms/History, Investigations/Screening, and Management) of, hopefully, every condition that we might come across.
T21 / Down’s
Epi: 1/700 births
Aet: Non-disjunction of Cr21, or the passage of a T(21, 14) to an offspring.
Hx/Sx: Upslanting palp fissures, epicanthal folds, single palm crease, bradycephaly, Cog delay. ±AVSD ±intestinal atresia ±Hirschsprung’s ±Alzheimer’s ±Hypothyroidism.
Ix: 11-13w USS, 15-22w Quad (+I, +B, -E, -A) ±Amniocentesis, 18-22 anatomy scan. Postnatal: Echo, resp tests.
Mx: Assessment with relevant specialties (Cardio, GI) + Parental genetic counselling +Physio +OT +SALT +Individual education plan.
T18 / Edward’s
Epi: 1/3,000 births (30x more pregnancies, most die before birth). ^^ with ^^mother age.
Aet: Non-disjunction of Cr18.
Sx/Hx: Rocker-bottom feet, Small jaw, low-set ears, Cog delay, Congen HD (ASD/VSD).
Ix: Antenatal: 11-13w USS, 15-22w Quad (I norm, -B, -E, -A) ±Amniocentesis, 18-22 anatomy scan. Postnatal: Echo, resp tests.
Mx: 10% 1y / 1% 10y survival. Symptom-focused management: Resp and cardio, mostly.
T13 / Pateau’s
Epi: ~1/15,000 births.
Aet: Non-disjunction of Cr13.
Sx/Hx: Small head, small eyes, Cleft lip/palate, Polydactyly. “PPP - Pateau’s, Palate, Polydactyly”.
Ix: Quad Screen is NOT substantial .
Mx: 19.8% 1y / 12.9% 10y survival. Surgery for cleft-lip/palate + cardiac abnormalities.
Turner’s Syndrome
Epi: 1/2500 female births.
Aet: 45XO, but they have to have had an X-Cr deletion, and not a Y, which is instead called: “disorders of differences of sex development”.
Sx/Hx: Bicusp Aortic Valve, Coarction of Aorta, Webbed neck, Long Torso, Short Stature, delayed puberty.
Ix: GSfDx: Karyotype. Bone age, echo, audiology, LFTs. Can sometimes be confirmed during pregnancy if heart defect is picked up on USS.
Mx: Screening; “Turner’s Hepatitis” / DM / Coeliac. Oestrogen/Cyclic Progesterone + GH for growth + puberty. ±Breast implants.
Noonan’s Syndrome
Epi: ~1/2000 births - Men:Women = 1:1
Aet: Many potential gain-in-function mutations.
Sx/Hx: Short stature, Dysmorphic face, Pulm stenosis (+Other CHDs), Delayed puberty, Bleeding disorder.
Ix: Clin Dx. Molecular testing, ECG + Echo + Coagulation for management.
Mx: Patient-specific (?Surgery) + GH for growth.
Fragile-X Syndrome
Epi: 1/4000 M, 1/8000 F.
Aet: CGG trinucleotide repeats, similar to HD, on one X chromosome; Thereby affecting males worse.
Sx/Hx: Large head, large testicles, Cog-delay, Low-set ears, Mitral-Valve prolapse.
Ix: Amniocentesis (CVS) - Generally done if a FHx is present.
Mx: SALT, OT, Specialist education, genetic counseling + Sx-based treatment.
Pierre-Robin Sequence/Syndrome
Epi: ~1/11,000 births.
Aet: 1st Trimester sequence of development errors in the head/chin development.
Sx/Hx: Small jaw, Cleft lip/palate, Posterior tongue displacement.
Ix: Clin Dx shortly after birth.
Mx: SALT, Surgery at 6m-2y. Breathing assistance.
Hereditary Spherocytosis
Epi: 1/2000
Aet: AD Inheritance AND 25% are AR. Membranoapthy. Cells do not pass splenic checks, leading to haemolysis + splenomegaly.
Sx/Hx: Neonatal Jaundice. Haemolytic crises (Parvo B19),
Ix: Check for other causes of haemolysis; Coombs test. Blood smear, USS spleen.
Mx: Splenectomy ±Cholecystectomy. Vaccines against Flu / Cov19 / Meningococcus / StrepPneumo. ±Transfusion in haemolytic crisis. Folate replacement.
Sickle-Cell Disease
Epi: 1/2000 - More common in African decent- 8% of black people have SS trait,
Aet: AR Inheritance. Sickle-trait protective against Malaria. Cells sickle in hypoxia due to HbS polymerisation.
Sx/Hx: Dactylitis, pneuomonia-like-syndrome, FTF, jaundice.
Ix: Newborn Blood-spot, Blood-smear:
“Howell-Jolly Bodies”.
DNA-Assays. FBC + Reticulocytes. ±Long-bone XR (infarct).
Mx: Hydroxycarbamide, Blood transfusions + Iron Chelation. ?Haematopoetic SS transplant. Acute: Analgesia, Abx, Fluid.
Congenital Hypothyroidism
Epi: 1/4000 births.
Aet: –Iodine (Developing Countries), Genetics. Lithium, ?Pesticides.
Sx/Hx: Jaundice, ++Sleeping, Abdo distention, –muscle tone, –Temperature.
Ix: TFT. Technetium-99m scan or Radioactive Iodine scan.
Mx: Daily levothyroxine > Develops normally.
Cystic Fibrosis
Epi: 1/3000 in white people.
Aet: CFTR allele, AR inheritance. Abnormal salt balance of cell membranes > Thick secretions.
Sx/Hx: –Meconium Passage, FTF, unsatiated, wet cough, recurrent infections.
Ix: Neonate blood-spot (Immunoreactive Trypsinogen), Sweat Test. ±Sinus XR ±Throat swab.
Mx: ±CFTR-Mod. MecIlleus: Osmotic agents ± surgery. Lungs: Physio, SABA, mucolytics ±28d inhaled abx (Tobramycin). ±Lung transplant. Gastro: Pancreatin (Enz replace) + ADEK replacement ±Ursodeoxycholic acid ±PPI/H2.
1-MCADD (Medium-Chain Acyl-CoA-Dehydrogenase Deficiency)
2-PKU (Phenylketouria)
3-MSUD (Maple Syrup Urine)
4-Homocystinurua
5-Isovalaric Aciduria
6-Glutaric Aciduria.
x6 Metabolic Diseases on Newborn Blood Spot: Epi, Inheritance, Complications, Mx.
1- ~1/10k, ARi, –Glucose –Ketones +Liver failure ~1/10 die in 10m, monitor diet well + illness rules.
2- 1/12k, ARi, Untreated: –CogDev +Musty Urine +Seizures, Diet low in Phe (No eggs/chicken etc) +Careful Phe replacement.
3- 1/250k, ARi, Subtle > 48h > Athetoid + Spasticity + coma + Sweet-urine/earwax, Transfusion > Diet control ±Liver transplant (Curative).
4- ~1/300k, ARi, Seizures +Marfan-Habitus
–CogDev +Eye issues, vB6 +Low Protein diet.
5- 1/250k, ARi, “Sweaty-feet” smell >3d: Seizures + vomiting + coma +~30% death, Diet: Leucine restriction.
6- 1/100k, ARi, ++Macrocephaly Spasms +more after encephalopathic crisis, Carnitine IV + Choline replacement.
Congenital Adrenal Hyperplasia
Epi: ~1/15,000 (Varies a lot between ethnicity)
Aet: Multiple alleles, 3 types: 21Hd, 17Hd, 11bHd > –Mineralocorticoids / –Androgens (See my mnemonics Section).
Sx/Hx: 11/21: Ambiguous genitelia in F. 17: Intersex boys. 17/11: Hypertension/–K. 21: Salt-losing crisis within 3w > Death.
Ix: Bloods: –Glucose. ±±Na, ±±K.
Mx: ++Glucocorticoids ±Androgens (Type-dependent) ±Salts.
Retinopathy of Prematurity
Epi: 5-8% Prems in developed countries.
Aet: Less growth of retinal vessels due to ++O2, followed by sudden growth when –O2, leading to retinal detachment.
Hx/Sx: Stages 1/2: Slight visual loss. 3/4/5: Blindness increasing in severity.
Ix: Screening for babies <30w + babies <1500g at 4-9w old.
Mx: Peripheral Retinal Ablation: Kill avascular part of retina so it doesn’t vascularise.
Prematurity (General)
Epi: 10% of Births. 85% = 32-37w gestation.
Aet: IUGR, genetics, PPROM, maternal chronic disease, Low/High BMI, smoking.
Hx/Sx: Neuromuscular + Physical maturity score, indicates how premature they are.
Ix: Bilirubin, O2 sats bilat, Fundoscopy, USS head.
Mx: Resus > NICU. +Heat +Surfactant +Caffeine +40% O2 +Breastmilk +Dextrose ±Empirical Abx (PPROM) ±Phototherapy ±NSAIDS/±Prostaglandins
Neonatal Jaundice
Epi: 50-70% term and >80% prems.
Aet: Conj or Unconj and time-related:
<24h: ABO/Rhesus, Sepsis, G6PDd/Spherocytosis. 2-14d (40%): Physiological/Milk. >14d: Billiary atresia +others.
Hx/Sx: Sclera yellow (All ethnicities) ±FamHx. More common in –Gestational age.
Ix: Transcut Billi. SBR. Coombs (?ABO). ±FBC ±Blood smear ±LFTs. ?Sepsis: Urine.
Mx: >95th Cent for Billi: Blue Phototherapy + Fluid Dilution. If above threshold on chart: Exchange Transfusion.
Congenital Heart Disease
Epi: 0.8% of live births
Aet: Risks; Down’s, Edward’s, Pateau’s. Turner’s. VSD = 20% of CHDs.
Hx/Sx: ?–Femorals, ?Cyanotic, FTF, ±Asymptomatic ±Murmur/Thrill. Soon after birth cyan: TGA likely. Cyan
Ix: Bilat O2 sats, Echo ±CXR. 10-13+6 USS may show +NuchalThickness.
Mx: ±Prostaglandins ±Diuretics ±Food fortification then Surgery; ToGA: ASAP, ToF: @3m, AVSD: @3-6m, VSD: @1-4m if bad, @6-9m otherwise.
Cerebral palsy
Epi: 1/500 live births. 70% spastic.
Aet: Brain damage before 2y of age: Causes: 80% antenatal, 10% intrapartum, 10% post natal; Hypox. Ataxic (Cerbellar) +Dyskinetic (Basal-Ganglia).
Hx/Sx: Developmental delay in motor + Speech. Clonus, scissoring, toe walking.
Ix: Mostly to rule out other causes: MRI head ±USS/CT, metabolic panel, genetics, coag.
Mx: OT/PT + Orthoses/Equipment ±Botox (Can cause atrophy+Fibrosis) ±Surgery.
Autism Spectrum Disorder
Epi: 1-2% (M:F = 4:1, but seems to be changing)
Aet: 50-80% heritable. Lots of environmental factors.
Hx/Sx: ±Delayed language dev ±Repetitive speech ±Non-verbal communication issues ±Repetitive behaviour ±Struggle with change ±ADHD.
Ix: Screening tests; e.g, CAST or CARS.
Mx: Behavioural + Parent-mediated interventions ±Early education service input ±Manage ADHD.
Attention Deficit Hyperactivity Disorder (ADHD)
Epi: 7-11%. Combined ADHD = 50-70%. M:F = 2:1.
Aet: Genetic + Environment; 76% in twin studies.
Hx/Sx: H/I/I: ±Hyperactivity ±Inattention ±Impulsivity: Fidgeting, daydreaming, blurting out answers, hyper-fixating, organisation difficulties
Ix: SNAP-IV Q: 26 items for H/Inattention. Observed classroom. Child Behavioural Checklist (CBCL-AP). +ECG/Weight/BP/HR (For meds).
Mx: All ages: Parental education. <6y: Only consider methylphenidate. >6y: Give methylphenidate (Ritalin) - Height /6m and Weight /3m (<10 +after starting) or /6m (>10).
±Behavioural Therapy >6y, ±Antidepressants (Last-line).
Biliary Atresia
Epi: ~1/15,000 of neonates.
Aet: Neonates, bile duct/hepatic duct destruction due to ?Viral ?Toxins ?Genetics ?Autoimmunity.
Hx/Sx: >2w Jaundice (2w = physiological). Dark urine. Appetite/Growth issues. ±Hepatomegaly ±Splenomegaly.
Ix: Total bilirubin may be normal. Check conjugated bilirubin specifically! LFTs + PTT. Differentials: Sepsis: FBC etc. USS: “Triangular Cord Sign”.
Mx: Surgery (Hepatoportoenterostomy) ±Ursodeoxycholic acid ±Liver transplant ±Abx coverage.
Developmental Dysplasia of Hip (DDH)
Epi: 1-3% of newborns.
Aet: A bit genetic, a bit hormonal, a lot of mechanical factors.
Hx/Sx: RF: Breech/Female/1st-Born/–Hydramnios/>5kgBW/FamHx.
Ix: Screen @birth and 6-8w for all infants: Barlow (Dislocate) & Ortalini’s (Relocate). USS @6w-4/6m (XR at 4-6m, depending on ossification) for all infants breech @36w gest, or other risk factors.
Mx: Observe > Splint (Pavlik Harness) > ?Failed splinting > Closed reduction surgery.
Non-Accidental Injury (NAI)
Epi: 4-16% children Physically abused in industrialised countries.
Aet: Risks: Children with –Intellect/Physical issues, twins. > Head trauma (Retinal/Subarach/Epidural Haemorrhage), rib fractures, other micro fractures.
Hx/Sx: Inconsistent Hx. Late presentation. Other (±Older) injuries. No trauma Hx. Symmetrical.
Ix: Skeletal Survey +CT head +Fundoscopy +Photo-survey of injuries +FBC +Calc/PTH/ALP/vitD +Clotting profile
Mx: ADMIT +Manage injuries +Talk to social services / coordinator.
Septic Arthritis
Epi: 1/20,000 children. (More in <4y)
Aet: Risks: Surgery, Join-injections, Trauma. Joint colonisation > Sepsis > Join destruction.
Hx/Sx: ±Non weight-bearing ±Hot/Swollen/Restricted ±Fever, <2w of sx.
Ix: Kocher’s: FBC (WCC > 12?), ESR (>40?), Temp (>38.5?) ±Weight bearing? Joint aspirate +Cultures. ±USS/XR.
Mx: 3-6w abx. Fluclox. Pen-allergic: Clindamycin. MRSA: Vanco. Meningococcus/G-?: Cefotaxime. +Joint aspiration +Analgesia.