3a Paediatrics Flashcards

Question

What are the common causes of nephritic syndrome?

Answer 1

Post-streptococcal glomerulonephritis IgA nephropathy (Berger’s disease) Haemolytic uraemic syndrome Henoch-Schonlein purpura Thin basement membrane disease Anti-GBM (Goodpasture’s) disease Alport syndrome

Answer 2

Type 3 hypersensitivity where immune complexes are deposited in the kidneys

Answer 3

Type 3 hypersensitivity reaction occurring post-group A streptococcus infection (not immediate) Bacterial antigen is trapped in glomerulus and antibodies attack glomeruli causing glomerulonephritis Test for ASO titres or anti-DNaseB or throat swab

Answer 4

Triad of: AKI + microangiopathic haemolytic anaemia + thrombocytopenia Occurs after Shigella or Shiga-toxin producing E.coli infection (hence preceeded by bloody diarrhoea + abdominal pain) - Can have bruises due to low platelets Special investigations: stool MCS, NORMAL coagulation screen (PT, APTT) Management: INFORM PHE + supportive therapy for nephritic syndrome if needed (diuretics, antihypertensives, dialysis, maintain fluid balance)

Answer 5

ANCA - small vessel vasculitis causing IgA deposition in kidneys, skin, GI tract and joints Causes arthritis (knees and ankles), fever, headache, anorexia, abdominal pain and extensor purpura alongside features of nephritic syndrome Normal platelet count! Preceeded by Rubella or URTI

Answer 6

Type 2 hypersensitivity against basement membrane antigens (T4 collagen) Also has respiratory symptoms (haemoptysis, chest pain, etc.)

Answer 7

Autosomal dominant inherited cause of nephritic syndrome

Answer 8

Basketweave appearance on biopsy (sclerosis and fibrosis) X-linked (recessive) disorder affecting T4 collagen in the kidneys, eyes (lenticonus + myopia) and ears (sensorineural hearing loss) Maternal haematuria

Answer 9

Urine dipstick + MCS (RBC casts on microscopy) P:Cr FBC + film Albumin U&E ESR/CRP Anti-DNAse B or ASO titres or throat swab C3/4 ANA ANCA Renal biopsy

Answer 10

Hydrocortisone Clobetasone Betamethasone Clobetasol

Answer 11

Bleeding and pain Secondary bacterial infection (S.aureus = give flucloxacillin) Keratinisation (hyperkeratotic papules) Decreased QoL due to cosmetic appearance and persistent itching

Answer 12

Defective skin barrier means allergens/irritants can enter skin (predisposes to irritation/inflammation) causing immune response Associated with atopy (hayfever, asthma, food allergies) Presentation: - Dry, red, itchy and swollen - BME can have discoid/follicular appearance and also affect the extensor surfaces Where? - Infants: head, face, neck, trunk, extensor surfaces - Older children: flexor surfaces Managed by emollients +/- steroids - Steroid creams before PO - Can consider antihistamines (cetrizine, fexofenadine, loratadine)

Answer 13

T1 hypersensitivity “allergies” Prophylaxis: - Avoid triggers - Oral antihistamines (cetrizine, loratadine, fexofenadine) Acute: - Nasal antihistamines - Nasal corticosteroids - Oral corticosteroids

Answer 14

1 in 1000 (1 mg/mL) IM adrenaline - 2nd dose after 5 minutes if no response > 12 years: 500 micrograms (0.5mL) 6-12 years: 300 micrograms (0.3 mL) 6m to 6 years: 150 micrograms (0.15 mL) < 6m: 100-150 micrograms (0.10-0.15 mL) + IV crystalloids

Answer 15

Angio-oedema especially of the face Stridor and wheeze Fatigue or reduced consciousness Cough Hoarse voice Itching and urticaria Shock: low BP, raised HR and RR Cyanosis and increased WOB

Answer 16

JONES FEAR Joints - flickering polyarthritis affecting knees and ankles (and others in quick succession) Organs - pancarditis eventually leading to valve disease - Tachy/bradycardia - Friction rub - HF Nodules - subcutaneous nodules on extensor surfaces of joints Erythema marginatum Sydenham’s chorea (worse on 1 side and ceases with sleep) Fever Arthralgia ECG changes (long PR, no carditis) Raised ESR and CRP

Answer 17

Mitral stenosis

Answer 18

No school until lesions healed or 48 hours of antibiotics Non-bullous impetigo: 1 = hydrogen peroxide cream 2 = fusidic acid cream 3 = PO flucloxacillin (clarithromycin/erythromycin if allergic) Bullous impetigo 1 = PO flucloxacillin

Answer 19

Superficial infection of the skin commonly caused by staphylococcus aureus or streptococcus pyogenes Leaves a ‘golden crust’ on skin and is commonly found around the mouth and nose Bullous impetigo = large vesicles present - S.aureus is always the cause - Can have systemic symptoms such as fever, malaise, lymphadenopathy - Affects the face, trunk, limbs and flexures - Can have pain and itching Non-bullous impetigo = vesicles rapidly burst causing formation of characteristic golden crust Swab for MCS only if recurrent/widespread infection Complications: post-streptococcus GN, SSSS, scarlet fever, cellulitis

Answer 20

Overcrowding Poor hygiene Younger age Defective skin barrier (eczema, scabies, chickenpox, cuts/grazes)

Answer 21

Staphylococcus aureus Streptococcus pyogenes

Answer 22

Measles = 4 days after symptoms resolve Coxackie/enterovirus = none HHV-6 = none Rubella = 5 days after rash appears Scarlet fever = 24 hours of antibiotics Parvovirus B19 = none

Answer 23

Prodrome of coryza, conjunctivitis, cough and Koplik spots leading up to high fevers with a non-pruritic generalised maculopapular rash that starts in the face but spreads to the rest of the body Otitis media is the most common complication (but can also get pneumonia, diarrhoea, hearing/vision loss, death, subacute sclerosis panencephalitis) Investigations - Saliva PCR - Serology for IgM/IgG from day 3 Inform PHE and avoid school until 4 days from when symptoms resolve

Answer 24

Coryzal prodrome leading to bilateral erythematous rash on cheeks - Followed by erythematous rash on trunk and limbs - +/- itching VERY bad for pregnant women so they (and anyone immunocompromised) are screened for IgM/G + rubella + (+/- FBC as can get aplastic anaemia if immunocompromised) Not infectious from appearance of rash so no need to avoid school or inform PHE Other complications include: encephalitis, meningitis, myocarditis, hepatitis, nephritis

Answer 25

HHV-6/7 Rash appearing after the resolution of high fevers and is not infectious once appearing (no need to avoid school or inform PHE) The rash is diffuse, non-pruritic and affects the whole body Associated with febrile convulsions

Answer 26

Scarlet fever is a complication of streptococcus pyogenes infection (caused by toxins) Presents with - Prodrome of pharyngitis/tonsillitis - Strawberry tongue - SANDPAPER rash (rough and maculopapular) - Flushed cheeks/chin with perioral sparing - Fever, fatigue, lymphadenopathy, malaise Inform PHE and avoid school until 24 hours of antibiotics (phenoxymethylpenicillin)

Answer 27

Rough/raised maculopapular SANDPAPER-like rash

Answer 28

Prodrome of fever, flu-like symptoms followed by bilateral parotitis Investigations: - Saliva IgM or serum IgM/G Inform PHE and avoid school for 5 days from onset of parotitis Complications include pancreatitis, pericarditis, hepatitis, encephalitis, meningitis, nephritis, thyroiditis, epididymo-orchitis and infertility

Answer 29

Coxackie A16 or enterovirus 71 Prodrome of fevers, malaise, coryza Irritable clingy and miserable child as lesions are painful Vesicular lesions/ulcers in mouth Maculopapular lesions on the hands and feet (commonly dorsum, not palms/soles) No need to avoid school

Answer 30

Milder fever and rash compared to measles - No conjunctivitis or Koplik spots - Rash starts in face and spreads to rest of body (erythematous, lacy, ill-defined rash) - Non-pruritic Can have lymphadenopathy, sore throat and arthralgia IgM and IgG serology

Answer 31

Nikolsky’s sign - gentle pressure causes bullae to peel

Answer 32

Complication of S.aureus infection due to toxin production (protease enzymes .-.) Starts as generalised erythema > thinning of skin + bullae formation > bullae rupture and ‘scalded’ blister-like appearance that is painful Fevers + Nikolsky’s sign IV flucloxacillin (clarithromycin/erythromycin if allergic) 7-10 days Skin swab and nasal swab Skin heals well

Answer 33

TSS has flu-like symptoms, early multiple organ failure and signs of shock/disorientation TSS can also be caused by streptococcus pyogenes TSS: - A to E - (Clindamycin/linezolid) + (vancomycin/cephalosporin) - Blood cultures - FBC (low platelets, raised WCC) - Raised LFT and U&Es (low calcium!)

Answer 34

Causes: - Iodine deficiency (worldwide) - Agenesis or maldescended thyroid (UK) - Dyshormonogenesis (normally due to consanguinity) N.B., dyshormonogenesis can be distinguished from agenesis/maldescent as there can be goitre Complications: CRETINISM (impaired growth and IQ with characteristic appearance)

Answer 35

Prolonged jaundice Umbilical hernia Hypotonia Large posterior fontanelle Large protruding tongue and coarse skin Lethargy, poor feeding and constipation Bradycardia Slow relaxing reflexes Floppy, lazy yellow baby with a protruding tongue and umbilicus

Answer 36

Associations: - AVSD - VSD - Tetralogy of Fallot - Patent ductus arteriosus - Hypothyroidism - Duodenal atresia (double-bubble on x-ray) - Hirschsprung’s disease Complications - Leukaemia (ALL) - Early-onset Alzheimer’s disease - Recurrent otitis media with effusion

Answer 37

HYPOTONIA + umbilical hernia Hands and feet - Single transverse palmar crease - Short fingers that are curved - Short stature - Gap between hallux and second toe (hallux valrus) Face: - Low-set ears - Prominent epicanthic folds and upward slanting eyes - Flattened occiput (brachycephaly) - Short neck - Flat nasal bridge - Brushfield spots on iris - Protruding tongue - Learning difficulty

Answer 38

Increased nuchal thickness on dating scan (11-13+6) Combined test: until 14+1 - PAPP-A (low) - Beta-hCG (high) Quadruple test: from 14+2 - Inhibin (high) - Oestradiol (low) - AFP (low) - Beta-hCG (high)

Answer 39

Non-dysjunction during oogenesis Robertsonian translocation with C14 Mosaic

Answer 40

Trisomy 21 Noonan syndrome for juvenile myelomonocytic leukaemia

Answer 41

FBC + blood film (blast cells, AML also has Auer rods) Immunophenotyping Bone marrow and lymph node biopsy LDH (raised; allopurinol for tumour lysis syndrome)

Answer 42

Pancytopenia: - Anaemia (pallor, fatigue, dyspnoea, chest pain) - Thrombocytopenia (bruising and bleeding/petechiae) - Neutropenia (recurrent infections) General/systemic: - Fever, fatigue, weight loss, loss of appetite/poor feeding and night sweats - Generalised bone pain - Hepatosplenomegaly - Lymphadenopathy AML: <2 years - Gum hypertrophy ALL: 2-5 years and better prognosis - Headache - Cranial nerve involvement

Answer 43

Neuroblastoma is a tumour arising from embryonal neural crest cells (commonly adrenal medulla and SNS) It commonly affects children < 5 years (average 2y years) Presentation - Abdominal mass that crosses midline - Abdominal distension/pain - Can cause constipation and urinary retention/incontinence - Limp and bone pain - Hepatosplenomegaly - Lymphadenopathy - Fever, weight loss, night sweats, poor feeding, irritability/lethargy Investigations - USS abdomen (calcification) - Urinary homovanillinic acid and vanillylmandelic acid (raised) - Biopsy + histology - CT or MRI for staging - Bone scan Management - Active monitoring if < 1 year as can resolve spontaneously - Surgical resection - Chemoradiotherapy

Answer 44

Chemotherapy makes you feel like PUP Potassium Uric acid Phosphate Give allopurinol

Answer 45

Subcutaneous nodules Orbital ecchymosis Periorbital swelling/proptosis Secretory diarrhoea Horner’s syndrome SVC syndrome Spinal cord compression

Answer 46

Opsthoclonus-myoclonus-ataxia

Answer 47

Do NOT biopsy the eye 👁️ Retinoblastoma is the most common intraocular tumour in children and can be inherited via AD inheritance (especially if bilateral) due to loss of function of retinoblastoma tumour suppressor gene on C13 Presents with absent red reflex, strabismus/squint, visual deterioration +/- large eye Investigations include investigation under anaesthetic + MRI NOT biopsy Management can be chemoradiotherapy, photocoagulation, and surgical excision/enucleation if necessary

Answer 48

Associated with Turner syndrome, WAGR (aniridia, GU malformation and reduced IQ) and Beckwidth-Wiedemann syndrome Metastasises to lungs Wilm’s tumour is a nephroblastoma, and is the most common cause of abdominal masses in children Presentation (child is normally well with a big tummy) - Abdominal mass and distension that does not cross the midline +/- pain in flank - Haematuria - Hypertension - Fever, weight loss and night sweats are rare - Irritability, lethargy, poor feeding are also rare Investigations - Abdominal USS - Biopsy + histology (small round blue cells) - CT/MRI to stage Management - Chemotherapy followed by surgery - +/- radiotherapy Good prognosis with 80% cure

Answer 49

Rhabdomyosarcoma is the most common soft-tissue sarcoma, arising from rhabdomyoblasts, in children and it most commonly affects the head/neck and GU/bladder Presentation - Expanding lump - Head and neck = proptosis, nasal obstruction, bloody nasal discharge - GU/bladder = bloody PV discharge, haematuria, dysuria Management - Chemoradiotherapy - Surgical excision is difficult as borders are not clear but is still performed Metastasises to lung, liver and bone Can occur in cardiac muscle of tuberous sclerosis patients

Answer 50

Ewing’s sarcoma tends to affect the diaphysis of long bones and pelvis Associated with t(11;22) and M>F Occurs in younger children (vs osteosarcoma) X-ray: onion-skin appearance + Codman’s triangle Biopsy: small round non-osteoid producing blue cells Presentation: - Swelling/mass - Bone pain (severe, unremitting, non-weight bearing, occurring at night) - Fever, weight loss and night sweats - Decreased appetite Management: - Chemoradiotherapy (vincristine + ifosfamide + doxorubicin + etoposide) - Surgery Metastasis to lungs

Answer 51

Most common bone sarcoma in children which affects the metaphysis of long bones before closure of epiphysis Femur > tibia > humerus X-ray: sunburst appearance + Codman’s triangle Systemic symptoms are less common Normally swelling, limp, bone pain Investigations: - ALP and LDH (raised) - X-ray - Bone biopsy - CT/MRI/bone scan for staging

Answer 52

Neurofibromatosis type 1 Neurofibromatosis type 2 HNPCC

Answer 53

Not a malignancy - abnormal proliferation of Langerhans APC/dendritic cells which are normally only present in the skin Can present with fatigue, weight loss, lymphadenopathy, hepatosplenomegaly and widespread seborrhoeic rash Causes diabetes insipidus if hypothalamus is infiltrated Lytic bone lesions can cause pain/swelling/fracture Treatment is with chemotherapy and prognosis is good

Answer 54

Hodgkin’s lymphoma has Reed-Sternberg cells Painless asymmetrical lymphadenopathy that becomes painful after alcohol Investigations: CXR, lymph node biopsy + histology, CT/MRI/bone scan to stage - FBC *anaemia, low lymphocytes* - LDH (raised) - ESR and CRP - HIV - Albumin (low) B-symptoms: fever, weight loss, night sweats ABVD chemotherapy + radiotherapy - Adriamycin - Bleomycin - Vincristine - Doxorubicin Commoner in older adolescents Types: - Nodular sclerosis - Mixed cellular ITU - Lymphocyte predominant - Lymphocyte depleted Risks: - EBV infection (especially lymphocyte depleted) - Immunosuppression Complications including those from treatment: - GBS - AML - Breast cancer

Answer 55

Lymphoma without Reed-Sternberg cells - Can affect both T and B lymphocytes More common in childhood (vs Hodgkin’s which is common in adolescence) - High grade > low grade - High-grade precursor T/B lymphoblastic and small noncleaved lymphomas are the most common in childhood Risks: HIV, EBV infection, immunosuppression Investigations are the same as Hodgkin’s Presentation: - Painless lymphadenopathy - B symptoms and systemic symptoms are more common in high-grade lymphomas - Hepatosplenomegaly - Mediastinal mass + SVC syndrome Types: - High grade: Burkitt’s, diffuse large B-cell, mediastinal large B cell, primary CNS lymphoma - Low grade: follicular lymphoma, MALT lymphoma

Answer 56

Guillain-Barré syndrome Nephrotic syndrome and minimal change disease

Answer 57

8 years (range 8-14y) Breast budding - thelarche Pubic hair growth - adrenarche Start of menstruation - menarche Average age of menstruation is around 12

Answer 58

9 years (range 9-15y) Males grow after testicular enlargement while females grow before breast budding Testicular enlargement Pubic hair growth Scrotal darkening Tanner 1 - pre-pubertal Tanner 2 - testicular enlargement > 4mL, hair at base of penis Tanner 3 - testicular and penile enlargement, hair spreads to mons pubis Tanner 4 - darkening of scrotum, development of glans penis and continued growth, hair adapts adult-like pattern but does not spread to thighs Tanner 5 - adult features

Answer 59

Idiopathic (F>M) Obesity Craniopharyngioma Meningitis/head-injury/radiotherapy Hydrocephalus Neurofibromatosis Primary hypothyroidism Haemorrhage

Answer 60

Endocrine/genetic: - Kallmann syndrome - Turner’s syndrome - Kleinfelter’s syndrome - Androgen insensitivity syndrome - Constitutional delay (FHx) - Craniopharyngioma Nutrition: - Malabsorption (IBD, coeliac) - Excessive exercise - Inadequate intake Excessive stress: - NAI - Social stressors (school, family) Iatrogenic: - Chemoradiotherapy

Answer 61

GH deficiency Hypothyroidism Hyperprolactinaemia Cystic fibrosis Kallmann syndrome Radiotherapy Surgery Excessive exercise/malnutrition/inadequate intake Craniopharyngioma Constitutional delay

Answer 62

Turner syndrome Kleinfelter syndrome Androgen insensitivity syndrome Testicular torsion/ovarian torsion Radiotherapy in childhood Congenital absence of internal genitalia (AIS)

Answer 63

FSH and LH U&E FBC Ferritin Anti-TTG or anti-EMA Females at 13 and males at 14 if no signs of puberty, or if puberty has started but not progressed for at least 2 years

Answer 64

TFT Early morning FSH and LH (?is this first line?) GH or IGF-1 Serum prolactin

Answer 65

Congenital adrenal hyperplasia McCune-Albright syndrome Adrenal or liver tumours Gonadal tumours

Answer 66

Bilateral = central GnRH release Unilateral = gonadal tumour Small testes = adrenal origin

Answer 67

Oestrogen/testosterone levels Bone age Adrenal androgens MRI head Pelvic USS Intra-abdominal imaging

Answer 68

Random GNAS mutation during development Precocious puberty (due to excessive oestrogen produced by an ovarian cyst) Cafe au lait spots Fibrous dysplasia of bones

Answer 69

GnRH analogues (goserelin, leuprorelin, histrelin)

Answer 70

X-linked recessive condition affecting XY karyotype where cells are unresponsive to androgens - foetus develops with a female phenotype Presents in adolescence with tall female and delayed puberty There is breast development but absent axillary and pubic hair Rudimentary testes in abdomen Investigations - Pelvic USS = absent female internal reproductive organs - Genetic karyotyping - FSH and LH (raised) - Oesrogen (raised > normal male level) - Testosterone (raised > normal female level) Management - Oestrogen replacement - Removal of testes to prevent testicular cancer

Answer 71

X-linked recessive

Answer 72

Autosomal recessive condition where there is a deficiency in 21 hydroxylase leading to excess androgen production but decreased mineralocorticoid and glucocorticoid production Low cortisol stimulates ACTH release leading to adrenal hyperplasia and increased androgens (can have skin pigmentation) Salt-wasting - Presents early in life (if not at birth due to virilization of genitalia) with shock - Low sodium, high potassium, low glucose - Metabolic acidosis Non-salt wasting - Can present in later childhood with precocious puberty due to excess androgens - Females can be tall and have facial hair - Males are tall but have small testicles - Skin hyperpigmentation Investigations - GS: corticotrophin stimulation - Androgens (raised) - Cortisol (low) - U&Es Management (salt-wasting) - Hydrocortisone + fludrocortisone replacement Management in female adults - COCP or flutamide

Answer 73

Give maternal dexamethasone/steroids

Answer 74

Increased nuchal thickness Combined test: - PAPP-A (low) - Beta-hCG (low)

Answer 75

X-linked DOMINANT CGG trinucleotide expansion >200 repeats (fragile X mental retardation 1 gene) causing learning difficulty (IQ < 70; delayed speech and language) Associated with ASD, ADHD and epilepsy Presents with elongated face, large jaw/nose/ears/hands/feet and testicles Hyper mobile joints + pes planus - Females are not normally severely affected but can have premature ovarian failure Cardiovascular complications include mitral valve prolapse

Answer 76

X-linked dominant

Answer 77

Mitral valve prolapse

Answer 78

William’s syndrome is a chromosomal abnormality affecting chromosome 7 (random deletion > AD inheritance) Patients are generally very social (LD but better than average social skills) Facial features: - Starburst eyes - Wide smile (large mouth and widely spaced small teeth) - Wide forehead, small jaw - Long philtrum - Flattened nasal bridge - Widely spaced eyes - Periorbital fullness + full cheeks/lips - Anteverted nares Short stature

Answer 79

Hypercalcaemia Supravalvular aortic stenosis Hypertension ADHD

Answer 80

Coarctation of the aorta (dissection, aneurysm) Bicuspid aortic valve + ejection systolic murmur (AS due to bicuspid valve) Hypergonadotrophic hypogonadism Wilm’s tumour Hypothyroidism Horseshoe kidney Autoimmune diseases (coeliac, T1DM, alopecia, IBD)

Answer 81

45 XO - missing one X chromosome Features: - Short stature - Short 4th metacarpal - Primary amenorrhoea - Webbed neck, widely-spaced nipples - Low posterior hairline and low set ears - Pectus excavatum - Multiple pigmented naevi - Cubitus valrus Investigations - FSH and LH (raised) - Chromosomal analysis Management: - Growth hormone to help with growth - During puberty start oestrogen + progesterone

Answer 82

X chromosome deletion Deletion of short arm of one X chromosome Mosaicism

Answer 83

Hypertension Coarctation Hypothyroidism and other autoimmune diseases Recurrent otitis media Wilm’s tumour

Answer 84

Nephroblastoma (Wilm’s tumour)

Answer 85

Turner’s syndrome Trisomy 21

Answer 86

Kleinfelter’s is a form of hypergonadotrophic hypogonadism caused by chromosomal abnormality (XXY) due to non-dysjunction during maternal oogenesis Males tend to be tall, have female pattern pubic hair *no beard/chest hair*, wide hips, gynaecomastia, small testes and decreased libido Can have slight decrease in IQ compared to average population Management includes androgen/testosterone replacement to help with secondary sexual characteristics, mastectomy and IVF for fertility Complications include infertility (azoospermia), psychosocial issues, low BMD and increased risk of breast cancer compared to the male population Can also be affected by other ‘female’ diseases such as VTE, autoimmune conditions and anxiety/depression

Answer 87

Genetic condition affecting chromosome 15 UBE3A - Either 2 copies of C15 from father or abnormal C15 from mother (essentially you need 1 healthy C15 from each parent to be ‘normal’) Behaviour: - Fascinated by water - Very happy demeanour - Inappropriate laughter - Walks with hands in the air + hand flapping - ADHD - Abnormal sleep pattern Physical features: - Light hair + blue eyes + fair skin - Wide mouth and widely spaced teeth - Microcephaly Associated with developmental delay (especially speech), learning difficulty, epilepsy and ataxia

Answer 88

Genetic condition where there is an absence or abnormality in chromome 15 from the father - Either two C15 from mother or C15 from father is defective (e.g., microdeletion) Presentation: - Genitalia = Cryptorchidism at birth and hypoplasia of genitalia - MSK = MARKED hypotonia as an infant and poor feeding = Short stature - Facial features = Upward slanting narrow spaced almond eyes = Thin lips and mouth = Downward slanting mouth - Behavioural = Learning difficulty = ASD like behaviours = Insatiable appetite and food seeking behaviour Management: - Physiotherapy + regular exercise + low calorie diet + ensure the child does not have access to food - Growth hormone to promote growth and improve muscle development

Answer 89

Due to IMPRINTING

Answer 90

Sleep apnoea High BMI, DM, HTN, cardiovascular disease Hypogonadism = infertility and osteoporosis Growth hormone deficiency

Answer 91

Autosomal dominant inherited chromosomal abnormality (PTPN11 on chromosome 12) “Turner syndrome” that also affects males Widely spaced nipples Webbed neck Pectus excavatum Low posterior hairline and low set ears Downward sloping widely spaced eyes + ptosis Short stature Small jaw but wide forehead (inverted triangle) Management: - Give GH - Manage co-morbidities

Answer 92

Pulmonary stenosis Atrial septal defect Hypertrophic cardiomyopathy Neuroblastoma Leukaemia Cystic hygroma on USS antenatally

Answer 93

Type 1 collagen AD inheritance is most common

Answer 94

Aortic root widening Kyphoscoliosis (reduced FVC) MV prolapse Pain Aortic incompetence

Answer 95

Recurrent fragility fractures Blue sclera and hyper-mobility Deafness and dental imperfection Short stature Bowed legs (femur)

Answer 96

Sever’s disease = similar pathophysiology but occurring at insertion of Achilles tendon onto the calcaneous Osteochondritis desiccans = subchondral bone separates from surrounding area due to decreased blood supply Chondromalacia patellae = softening of patella cartilage causing anterior knee pain when going up and down stairs (F>M) Patella subluxation Patella tendinitis

Answer 97

Apophysitis of tibial tuberosity // repetitive strain injury Affects the insertion of patella tendon at the tibial tuberosity Patient will present with anterior knee pain, hard lump on tibial tuberosity and reduced active extension of knee (but normal passive ROM)

Answer 98

Pathophysiology and epidemiology - Avascular necrosis of the femoral head followed by revascularisation and reossification - M>F - Aged 5-10y Presentation - Progressive onset limp with limb shortening - PAINLESS limp - Hip and groin pain - (Reduced internal rotation and abduction) = ABSENT for exam purposes? - No fever Associated with ADHD + short stature Investigations - XR: widened joint space, joint sclerosis - Late XR: Gage’s sign, flattening of femoral head, fragmentation - Bloods (normal) - Technetium bone scan (normal) Management - BA < 6 years = conservative management (rest, crutches, bracing) + analgesia - BA > 6 years = corrective surgery Complications - Early osteoarthritis

Answer 99

Eisenmenger syndrome Stroke Atrial flutter or fibrillation Pulmonary HTN and RHF

Answer 100

N.B., patent ductus is normal until 28 days after birth/due date Trisomy 21 CHARGE syndrome Wiedemann-Steiner syndrome Prematurity Rubella

Answer 101

Tetralogy of Fallot Hypoplastic left heart syndrome Transposition of the great arteries Ebstein’s anomaly Tricuspid atresia/stenosis/displacement

Answer 102

4 features - VSD - Overriding aorta - Pulmonary stenosis and ejection systolic murmur +/- thrill head at upper left sternal border - Right ventricular hypertrophy Other features - Heart failure (failure to thrive, recurrent chest infections, SOB, poor feeding, lethargy) - Clubbing - Cyanosis Tet spells and management - Periods of cyanosis during exertion (e.g., crying or feeding) which causes systemic vasodilation hence increasing the R>L shunt - Resolves when relaxed - Child may squat to increase peripheral vascular resistance/after load (so blood is more likely to flow to the heart rather than systemic circulation from right side of heart reducing the R>L shunt) - Other management: BBlockers relax RV, IV fluids, supplementary O2, morphine to reduce breathlessness, phenylephrine to increase vascular resistance Investigations - CXR: boot shaped heart - Echocardiogram

Answer 103

Beta-blockers (relax RV) Phenylephrine (increase systemic vascular resistance) IV fluids (increase preload) Morphine O2

Answer 104

Pre-existing diabetes (not gestational DM) Rubella Alcohol in pregnancy

Answer 105

Pulmonary artery and aorta are connected to the left and right ventricles respectively so oxygenated blood keeps returning to the heart whilst deoxygenated blood is pumped to systemic circulation These circulations do not mix so the infant presents extremely unwell (cyanosed and shocked) within hours-days of birth once PDA begins to close - Survival depends on PDA, ASD, VSD so A-E resuscitation and prostaglandin E to maintain ductus arteriosus until corrective surgery Associated with maternal diabetes (not gestational diabetes) Single second heart sound Investigations - CXR = egg on string appearance with increased pulmonary vascular markings - Echocardiogram

Answer 106

Pathophysiology: - Congenital heart defect where RA is larger than RV as tricuspid valve is set lower down - Tricuspid regurgitation is present so there is backflow into RA causing increased pressure within RA - Most with Ebstein’s anomaly have co-existing ASD or patent foramen ovale which does not close due to the high pressure within right atrium causing a R>L shunt and cyanosis Presentation: - Heart failure (SOB, failure to thrive, poor feeding, lethargy, hepatomegaly) - Tricuspid regurgitation (pansystolic murmur louder on inspiration) - Gallop S3 and S4 - Cyanosis

Answer 107

Wolf-Parkinson-White syndrome Maternal lithium use Patent foramen ovale/atrial septal defect

Answer 108

Lung lung lung lung lung The LUNGS

Answer 109

8, 12 and 16 weeks old Diphtheria, tetanus and pertussis Polio HiB Hepatitis B

Answer 110

Meningitis ACWY Diphtheria, tetanus and POLIO Check MMR status

Answer 111

2 doses of HPV

Answer 112

MMR dose 2 Diphtheria, tetanus, pertussis and polio

Answer 113

MMR dose 1 of 2 Pneumococcal dose 2 of 2 HiB and meningitis C Meningitis B dose 3 of 3

Answer 114

6 in 1 (diphtheria, tetanus, pertussis, polio, HiB and hepatitis B) Meningitis B dose 2 of 3

Answer 115

6 in 1 (diphtheria, tetanus, pertussis, polio, HiB, hepatitis B) Rotavirus dose 2 of 2 Pneumococcal dose 1 of 2

Answer 116

6 in 1 (diphtheria, tetanus, pertussis, polio, HiB, hepatitis B) Meningitis B dose 1 of 3 Rotavirus dose 1 of 2

Answer 117

3 times at 8 weeks, 16 weeks and 1 year

Answer 118

2 doses At 1 year and at 3 years 4 months

Answer 119

2, at 8 weeks and 12 weeks

Answer 120

2 Given at 12 weeks and 1year

Answer 121

2 Once as part of HiB + meningitis C at 1 year Once as part of meningitis ACWY at 14 years

Answer 122

4 3 in the 6 in 1 at 8, 12 and 16 weeks 1 in HiB + meningitis C at 1 year

Answer 123

4 3 during the 6 in 1 1 in the diphtheria, tetanus and polio booster at 13/14 years

Answer 124

3 in the 6 in 1 vaccine

Answer 125

4 3 in the 6 in 1 1 in the diphtheria + tetanus + polio booster at 13/14 years

Answer 126

Femur, tibia and humerus

Answer 127

IV benzylpenicillin + gentamicin

Answer 128

IV flucloxacillin + gentamicin + metronidazole if necrotising enterocolitis If coming from home, use cefotaxime + amoxicillin Commonly caused by staphylococcus aureus

Answer 129

Give according to chronological age If born < 28 weeks give first set in hospital due to risk of apnoea

Answer 130

Allergy (IgE and non-IgE to milk proteins) to casein and whey Investigations - Eliminate milk from diet and reintroduction - Can use skin test if suspecting IgE Management - Extensively hydrolysed formulas - Amino acid formulas

Answer 131

IgE (acute onset) - Anapylaxis (ABC problem + shock) - Urticaria - Angioedema - Pruritus - Dyspnoea, wheeze, stridor - Rhinorrhoea Non-IgE - GI (nausea, vomiting, diarrhoea, abdominal pain, GORD) - Poor weight gain - Bloody and/or mucus-coated stools - Pallor and tiredness - Atopic eczema, pruritus and erythema

Answer 132

1st line: exclusive enteral nutrition 2nd line: PO corticosteroids (prednisolone/budesonide) Others - Aminosalicylates (sulfasalazine, mesalazine) - Immunomodulators (AZT, MTX, mercaptopurine) - Biologics (infliximab, adalimumab) - Surgery and parenteral nutrition

Answer 133

Mild-moderate - Aminosalicylates for induction and remission - E.g., sulfasalazine, mesalazine - Therefore: 5ASA (topical/PO) +/- prednisolone (PO) Moderate-severe - Induction: IV corticosteroids +/- surgery or ciclosporin/infliximab - Remission: PO mercaptopurine or AZT

Answer 134

Presentation - Abdominal pain - Weight loss, fever, fatigue, anorexia and pallor - Poor growth and delayed puberty - Tenesmus - Bloody, mucous-coated stools that can float - Change in bowel habit Extra-intestinal - Ankylosing spondylitis/arthritis - Pyoderma gangrenosum - Iritis - Erythema nodosum - Sclerosing cholangitis - Aphthous ulcers/anaemia - Clubbing/cirrhosis Investigations - FBC (anaemia, raised WCC and platelets) - LFTs - Faecal calprotectin - ANCA - CRP/ESR - Stool microscopy and culture - Colonscopy/endoscopy + biopsy

Answer 135

Do NOT give anti-diarrhoeals (e.g., loperamide or mebeverine) or anti-emetics! Most-often the cause is viral so keeping hydrated is important - If not dehydrated, continue with regular fluids or milk (BUT NO fizzy drinks or fruit juices) and offer ORS if at risk of dehydration - If dehydrated = low osmolarity oral-rehydration salts +/- supplementation with normal fluids - Avoid solid foods until fully rehydrated! Investigations - No routine bloods unless IV fluids = sodium, potassium, urea, creatinine and glucose - Consider stool microbiology if no improvement by day 7 or recent travel - Stool microscopy if septicaemia, blood or immunocompromised - Blood culture if giving antibiotics

Answer 136

Constipation - < 3 spontaneous bowel movements a week - Impaction = accumulation of faecal matter that is unlikely to spontaneously clear (overflow + palpable mass + constipation) - N.B., breastfed babies have fewer bowel movements and this is normal Presentation - Abdominal distension and pain - Urinary incontinence - Overflow incontinence - Retention posturing (standing on tip toes with arched back) - Pain and STRAINING when opening bowels, bleeding (anal fissure from hard stool) - Hard, dry stool (Bristol 1) - Lack of appetite that improves after opening bowels Investigations - Depends on cause - Never do a PR Management *same medications for disimpaction just in different doses* - 1st line = dietary advice (fluids, fibre) and encourage regular toileting - 2nd line = osmotic laxative (macrogol/polyethylene glycol, lactulose) - 3rd line = stimulant laxative (senna, bisacodyl, sodium picosulfate) - 4th line = removal under anaesthetic

Answer 137

All ages - Dehydration and/or lack of fibre - Strangulated hernia causing bowel obstruction - Spina bifida - Cerebral palsy - Hypothyroidism - Coeliac (rarely) - Opioids - Fissure causing pain Infants - CF (thick meconium plug) - Hirschsprung’s Children - Behavioural - IBD Adolescents - Behavioural - IBD - Pregnancy - Laxative overuse

Answer 138

Crohn’s - ANCA - - Skipped lesions anywhere from mouth to anus (rectal sparing) - Transmural inflammation (fissures, abscess, strictures, fistulas) - Granuloma formation - Bloody diarrhoea less common - Colonoscopy: cobblestone appearance Ulcerative colitis - ANCA + - Colon only and continuous inflammation - Only mucosa and submucosa inflammation - No rectal sparing - Associated with primary sclerosing cholangitis and AS (HLA-B27) - Smoking is protective - Colonscopy: mucosal ulcer, goblet cell depletion, inflammatory infiltrates and crypt abscesses

Answer 139

Paediatric - M > F - Crohn’s > UC - UC is pancolitis - Crohn’s = ileo-colonic or colonic Adult - M = F - Crohn’s < UC - UC is left sided - Crohn’s = terminal ileal without colon

Answer 140

0.9% NaCl + 5% glucose - 1st 10 kg = 100 ml/kg - 2nd 10 kg = 50 ml/kg - Subsequently = 20 ml/kg Then divide by 24 to determine rate per hour

Answer 141

Clinically well = maintenance fluids Dehydrated = maintenance + deficits Shocked = maintenance + deficits + bolus

Answer 142

For moderate (5%) or severe (10%) dehydrated and given over 24-48 hours Formula = deficit (%) x 10 x weight (kg) Deduct bolus from deficit!

Answer 143

0.9% NaCl without glucose or dextrose is used in resuscitation for shock Give 10 ml/kg!

Answer 144

Pathophysiology (ME, SEA, Afro-Caribbean descent = more common) - X-linked recessive - G6PD is involved in covering/reducing NADP+ into NADPH - Deficiency = low NADPH and glutathione stores so cells are more susceptible to oxidative stress (e.g., during infection) - Intravascular haemolysis Causative agents - Fava (broad) beans - Infection - Medications (aspirin, sulfonamides, sulfasalazine, anti-malarials, nitrofurantoin, trimethoprim, sulfonylureas) Presentation - Jaundice + those of anaemia - Gallstones - Splenomegaly - Types =Asymptomatic = Sporadic (e.g., post-infection or medication) = Chronic Investigations - Blood film (bite cells, Heinz bodies, reticulocytes, irregularly contracted cells) - G6PD enzyme assay - Serum bilirubin and urinary urobilinogen(raised unconjugated bilirubin) - LDH (raised) - FBC (low Hb, normal MCV) Management - Avoid causative agents - Blood transfusion (rarely required) - Renal support

Answer 145

Pathophysiology (European descent = more common) - AD inherited membranopathy - Abnormal spectrin protein so cell membrane is permeable to sodium = increased Na+/K+ ATPase activity and more Na+ out - Causes cell to become spherical to reduce SA:V ratio - Round cells get trapped in spleen = extra-vascular haemolytic anaemia Presentation - Gallstones - Leg ulcers - Splenomegaly - Fatigue, pallor, those of anaemia - Childhood onset jaundice Investigations - Serum bilirubin (raised unconjugated bilirubin) - LDH (raised) - FBC (low Hb, normal MCV) - Blood film (spherocytes, reticulocytes) - Direct antibody test (negative) Management - Folic acid supplements - Severe = splenectomy

Answer 146

Pathophysiology - AR inheritance - Reduced rate of 1 or more of the globin chains - HbF = 2 alpha, 2 gamma - HbA (normal adults) = 2 alpha, 2 beta - HbA2 (abnormal) = 2 alpha, 2 delta Beta thalassaemia - Affects beta globin *2 genes per cell* - Chromosome 11 Presentation - Trait is asymptomatic and test shows mild anaemia + raised HbA2 - Progressive severe anaemia (fatigue, pallor, dyspnoea) - Skeletal deformity: frontal bossing, maxillary overgrowth - Jaundice due to haemolytic anaemia (+ gallstones) - Failure to thrive/delayed growth and puberty - Splenomegaly Investigations - Film (microcytic hypochromic cells, raised reticulocytes, target cells) - Skull XR (hair on end appearance) - FBC (low Hb, low MCV) - Iron studies (normal) - Hb electrophoresis - LDH, bilirubin (raised) Management - Regular blood transfusions + iron chelation (deferoxamine) - Bone marrow transplant - Splenectomy

Answer 147

Pathophysiology - Commonest inherited bleeding disorder that varies in severity - VWF roles: mediate adherence of platelets at sites of endothelial damage to form a platelet plug // binds and transports factor 7, protecting it from degradation Presentation - Easy bruising - Mucosal bleeding (epistaxis, bleeding gums) - Menorrhagia - Increased bleeding post surgery or trauma Investigations - APTT (prolonged) - PT (normal) - VWF antigen (low) - Ristocetin factor (abnormal) - Factor 8 levels (normal) Management - Tranexamic acid - Desmopressin - WVF concentrates

Answer 148

2-10y Female Caucasian WCC < 50 No CNS disease

Answer 149

Pathophysiology - X-linked recessive bleeding disorder due to deficiency in factors 8 (A) or 9 (B) Presentation - Asymptomatic - Haematoma - Haemarthroses - Mucocutaneous bleeding Investigations - Bleeding time (normal) - Plasma factor 8/9 (low) - FBC (normal platelets) - PT (normal) - APTT (prolonged) - WVF (normal) Management - Tranexamic acid - Factor 8/9 replacement (recombinant or concentrate) - Desmopressin (preferred in MILD haemophilia A only, not used in B) Severity - Mild (5-40% normal) = bleeding after major trauma (like a healthy person) - Moderate (1-5% normal) = bleeding after minor trauma - Severe (<1% normal) = spontaneous bleeding into joints/muscles

Answer 150

Pathophysiology - Most common inherited aplastic anaemia - AR or X-linked - FANC gene mutation causing cellular arrest in G2 phase so no cellular repair of DNA cross-links = haematopoetic stem cell loss Presentation - Pancytopenia - Hypogenitalia, short stature, conductive deafness - Small eyes and head - Imperforate anus - VACTERL-H association Investigations - GS: chromosomal breakage (DEB assay) of peripheral lymphocytes + genetic sequencing - FBC only changes around 8y (low Hb, raised MCV, low WCC, low platelets) - Bone marrow biopsy (hypocellular) Management - Transfusions - Bone marrow transplant - Others: granulocyte colony stimulating factor/granulocyte macrophage stimulating factor Complications - Myelgenous leukaemia - MDS - Solid tumours - Pancytopenia

Answer 151

Thalassaemia Anaemia of chronic disease Iron and copper deficiency Lead poisoning Sideroblastic anaemia

Answer 152

CKD Early IDA Early anaemia of chronic disease Aplastic anaemia Malignancy (bone marrow infiltration; if colonic bleeding think IDA) Haemorrhage Haemolytic (sickle cell, hereditary spherocytosis, G6PD, pyruvate kinase deficiency) Hypersplenism (increased breakdown)

Answer 153

Megaloblastic - B12 deficiency - Folate deficiency - Fanconi anaemia - Diamond-Blackfan anaemia Normoblastic - Hypothyroidism - Drugs (MTX, AZT) - Liver disease - Alcohol misuse

Answer 154

Pathophysiology - Antibodies form against platelets causing phagocytosis by spleen macrophages = thrombocytopenia Presentation - Healthy child without any concerning features apart from bruising or petechiae/purpura - Can follow viral infection or vaccination or be ‘random’ Investigations - FBC (low platelets, normal Hb, normal WCC) - Bone marrow examination and platelet autoantibodies Management - Nothing, only treat if < 10 x 10^9 - Steroids, IVIg, TPO-RA- - Emergency = platelet transfusion

Answer 155

Splenic sequestration crisis Acute chest crisis and pulmonary HTN Stroke/VTE Gallstones Priapism Aplastic anaemia - Especially on exposure to parvovirus B19 Septic arthritis, osteomyelitis, chronic ankle ulcers Avascular necrosis CKD

Answer 156

Pathophysiology - Autosomal recessive substitution of valine (GAG) for glutamic acid (GTG) on B chain C11! - Causes formation of abnormal HbS (instead of HbA) that polymerises + sickles when exposed to low oxygen environments (deoxygenated HbS) - Sickle-shaped RBCs get trapped in microvasculature resulting in ischaemia (can also affect circulation to bone, lungs and can block the spleen) - There is also increased breakdown of abnormal RBCs (shortened lifespan) Presentation (6 months of age if not detected on newborn blood spot) - Dactylitis - Anaemia (pallor, dyspnoea, fatigue) - Poor weight gain and failure to thrive/delayed puberty - Gallstones (due to RBC breakdown products) - Jaundice - Splenic sequestration crisis = hypotension + anaemia + splenomegaly + pain - Stroke - Acute chest syndrome (fever, respiratory symptoms and infiltrates seen on XR) + pulmonary HTN - Hepatosplenomegaly - Retinopathy/tubulointerstitial nephritis Investigations - Blood film (normocytic, sickle-cells visible, Howell Jolly bodies) - FBC (low Hb, normal MCV) - Bilirubin (raised unconjugated bilirubin) - LDH (raised) - Haptoglobin (low) - Haemoglobin electrophoresis Management - Keep warm, well hydrated and up to date with vaccines (prevents sickle cell crises) - Analgesia (PCM or NSAID) - Hydroxycarbamide to stimulate HbF production - Phenoxymethylpenicillin prophylaxis - Splenectomy, bone marrow transplant, blood transfusions - Acute chest syndrome = ventilation + blood transfusions + antibiotics/antivirals + incentive spirometry - Splenic sequestration crisis = blood transfusion + fluid resuscitation // recurrent = splenectomy - Aplastic anaemia = supportive with blood transfusions

Answer 157

Aetiology - Malnutrition (too much cow’s milk, CMPA, just not eating enough) - Increased utilisation - Chronic blood loss What other element is IDA associated with? - ZINC deficiency Presentation - Systolic flow murmur - Atrophic glossitis and angular stomatitis - Spoon-shaped nails - Fatigue, pallor, dizziness, palpitations, chest pain, dyspnoea, exercise intolerance, tachycardia, splenomegaly - PICA! - HEART failure Blood film - Microcytic, hypochromic RBC - Low-normal reticulocytes Bloods - FBC (low Hb, low MCV) - Iron studies (low ferritin, low serum iron, increased total iron binding capacity) - Zinc protoporphyrin (raised) Management (until normal Hb then for an additional 3-6m to replenish stores) - Oral iron (ferrous sulphate) — take with juice == Constipation, GI disturbance, dark stools - IV iron

Answer 158

Fatigue, pallor, dizziness, palpitations, chest pain, dyspnoea, exercise intolerance, tachycardia, splenomegaly, headaches, loss of appetite

Answer 159

Causes (body has 4y store!) - Plant-based diet - Pernicious anaemia (attacks parietal cells = lack of intrinsic factor) - Malabsorption (e.g., coeliac, IBD, bowel resection - ileocaecal as absorbed by terminal ileum) Presentation (including those of anaemia) - Peripheral neuropathy - Depression - Dementia - Angular stomatitis and atrophic glossitis - Ataxia due to DCML involvement Blood film - Macrocytic megaloblastic anaemia - Hypersegmented polymorph neutrophils Bloods - FBC (low Hb, raised MCV) - Serum B12 (low) Management (if also folate deficient, correct B12 deficiency first) - Hydroxocobalamin PO or IM (IM if malabsorption or pernicious anaemia) Complications - Subacute degeneration of the spinal cord (DCML, ankle jerk absent, Babinski +) - Dementia - Depression - Peripheral neuropathy

Answer 160

Basic physiology - 4m stores and absorbed in duodenum and jejunum Presentation - Atrophic glossitis and angular stomatitis - No CNS involvement Blood film - Hypersegmented polymorph neutrophils - Macrocytic megaloblastic anaemia Bloods - FBC (low Hb, raised MCV) - Serum folate (low) Management - Folate supplement + B12 supplement - Give B12 alongside as folate with low B12 = worsened subacute degeneration of the spinal cord

Answer 161

Pathophysiology - Rh - mother has previously been sensitised to Rh + cells and has produced antibodies - Antibodies cross the placenta and cause haemolysis of foetal haemoglobin Presentation - Severe anaemia - Hepatosplenomegaly - Foetal hydrops (abnormal accumulation of fluid in at least 2 compartments) Management - Anti-D immunisation - Intrauterine transfusion of affected foetus

Answer 162

Alpha thalassaemia - Affects alpha globin *4 genes per cell* on C16 - Carrier = 1 mutated gene, trait = 2 mutated genes // both are asymptomatic - HbH disease = 3 mutated genes - Bart’s hydrops = 4 mutated genes and not compatible with life Presentation - Normal skeletal appearance, only those of haemolysis - Jaundice, splenomegaly, pallor, fatigue Investigations - FBC (low Hb, low MCV) - Blood film (microcytic hypochromic cells, raised reticulocytes, target cells) - PCR - Iron studies (normal) - LDH and bilirubin (raised) Management - Folic acid - Rarely = transfusions

Answer 163

Pathophysiology - Antibodies form against ADAMST13 which normally degrades VWF - Increased VWF clusters/multimers lead to platelet aggregation and microthrombus formation which blocks vessels - Blocked vessels cause ischaemia + haemolysis while RBCs try to squeeze past each other Presentation - Thrombosis/infarction - Purpura, bruising - Fever - Menorrhagia, confusion (fluctuating neurological signs) - Haemolytic anaemia = jaundice, dyspnoea, fatigue Investigations - Blood film (schistocytes) - FBC (low platelets, normal Hb, normal WCC) - Bilirubin (raised) - LDH (raised) Management - Plasma exchange - Rituximab + methylprednisolone (immunosuppressant + corticosteroid)

Answer 164

Hypoglycaemia < 2.6 mmol/L Transient hypoglycaemia in firsts hours is normal Persistent hypoglycaemia - Prematurity < 37 weeks - Maternal DM - IUGR - Hypothermia - Sepsis - Inborn metabolic errors - Beckwith-Wiedemann syndrome Management - Asymptomatic and glucose > 1.0 mmol/L = encourage feeding and monitor glucose - Symptomatic or < 1.0 mmol/L = admit to neonatal unit and give 10% dextrose

Answer 165

Normally self-resolves Large or symptomatic = surgical repair (elective) at 2-3 years Small < 1.5cm and asymptomatic = surgical repair (elective) at 4-5 years Incarceration - If reducible, reduce and repair within 24 hours - Irreducible = emergency surgery

Answer 166

Fixed split S2 Indicator of RV overload

Answer 167

Type 2 hypersensitivity reaction occurring after group A streptococcus infection - 2 to 4 weeks post-tonsillitis Diagnostic criteria - 2 major - 1 major + 2 minor Investigations - ASO - Anti-DNAse B - Throat swab - CXR, ECG - ESR/CRP Management - Benzylpenicillin STAT followed by phenoxymethylpenicillin - Chorea: haloperidol or BDZ

Answer 168

Brushfield spots on iris

Answer 169

Colic - At least 3 hours a day 3 days a week for at least 1 week - Typically occurs in late afternoon/evening - Is episodic Presentation - Young infant < 6m of age - Inconsolable and excessive crying BUT is otherwise fit, well and growing (distressed during colic, not between) - Draws knees up into chest (no extension of UL unlike infantile spasms) - Increased flatulence and bloating Management - Reassure parents and DO NOT recommend any treatments - Encourage parents to get extra support from extended family, nursery nurse, etc. Complications - Parental distress - NAI - Delayed bonding - Early cessation of breastfeeding

Answer 170

Diarrhoea containing visible undigested food in toddler who is otherwise fit, well and meeting all milestones Due to increased motility of the gut = short transit time

Answer 171

Pathophysiology - Lack of autonomic PSNS ganglia in the distal bowel due to failure of migration - No Auerbach (myenteric) and Meissner’s (submucosal) plexi therefore no relaxation of colon = bowel obstruction Associations - Trisomy 21 - Waardenburg syndrome - Neurofibromatosis Presentation - Delayed passage of meconium - Constipation unresponsive to laxatives BUT relieved on PR examination - Abdominal distension - Bowel obstruction (vomiting, distension, constipation, abdominal pain) - Lack of appetite and growth (due to lack of intake) - HAEC: fever + bloody diarrhoea + distension + features of sepsis Investigations - Rectal biopsy is gold standard (absent ganglia, increased ACh-esterase on staining) - AXR (proximal dilation with distal constriction) - Contrast enema Management (A-E resuscitation if necessary) - Bowel irrigation + resection of aganglionic portion - If Hirschsprung’s enterocolitis = MTZ + A-E resuscitation + surgical resection

Answer 172

Pathophysiology - Idiopathic hypertrophy and hyperplasia of pyloric smooth muscle - M>F - Firstborns Presentation (first few weeks of life) - Non-bilious projectile vomiting after every feed (including water) - Hungry baby who wants to feed - Signs of dehydration (lethargy, sunken fontanelle, dry mucous membranes, reduced CRT or skin turgor, constipation) - Olive sized mass in RUQ/epigastrium and visible peristalsis - Failure to thrive (as essentially no intake) Investigations - 1st line = test feed? - USS - ABG (metabolic alkalosis, low K+, low Cl-) Management - Correct electrolyte imbalance - Ramstedt pyloromyotomy

Answer 173

Pathophysiology - Idiopathic fibrosis and destruction of the intrahepatic and extrahepatic biliary tree causing outflow obstruction of bile Epidemiology - F > M - Asian ethnicity Presentation - First few weeks of life - Jaundice (obstructive) - Pale stools and dark urine *abnormal in babies as their urine is normally clear - Failure to thrive (normal birthweight but subsequent dropping of CE tiles) - Bruising - Hepatomegaly/splenomegaly Investigations - GS: ERCP - USS (absent gallbladder, triangular cord sign) - Bilirubin (raised conjugated bilirubin) - LFTs (raised, especially GGT) - FBC (low platelets and WCC) - Liver biopsy (proliferation + mucous plug) Management - Hepatoportoenterostomy +/- ursodeoxycholic acid - Liver transplant (most common indication for liver transplant in children) - Nutrient supplements

Answer 174

Presentation - Antenatal: polyhydramnios due to inability to swallow - Drooling/choking/not feeding after birth - If co-existing tracheo-oesophageal fistula = can present later with cyanosis/choking/cough during feeds Investigations - If detected antenatally = pass large bore feeding tube + XR to check position Management - Surgical correction - Suction only relieves symptoms Associations - Trisomy 18 (Edward’s) - VACTERL-H: vertebral defects, anorectal, cardiac, trachea-osophaeal, radial limb, renal - CHARGE: colobama, heart defects, atresia choanae, reduced intellect, genital hypoplasia, ears

Answer 175

Neonatal *use brachial pulse* - Dry and keep warm is normally sufficient - Put head in neutral position - 5 rescue breaths - No improvement = 30s of ventilation - Followed by 3:1 ratio of chest compressions to rescue breaths - Two-thumb encircling method is best

Answer 176

Do NOT shake child/infant - Check for signs of life for 10s (use brachial pulse in infants) Airway: check if there are any obstructions, open airway via jaw thrust or head-tilt chin-lift Breathing: check if breathing, give 5 rescue breaths before commencing CPR Circulation: check for pulse, CPR in 15:2 ratio after the rescue breaths are given CPR: 1 or 2 hands 4cm compressions // two fingers for neonates-

Answer 177

Encourage coughing if airway is patient (effective cough) If cough is no longer effective, alternate between - Back blows and - Abdominal thrusts/chest thrusts (< 1y)

Answer 178

Vomiting early in first 2 days of life Double bubble sign on AXR Associated with trisomy 21 Management is by surgical correction

Answer 179

Malformation of diaphragm causing herniation of abdominal contents into the thorax - Mediastinal shift of the heart - Bowel loops present on CXR and tinkling sounds heard on auscultation - Bronchopulmonary hyperplasia (severely reduced lung capacity) - ?polyhydramnios in utero Commonly left-sided (liver ‘protects’ the right) Bochdalek hernia (85%) Only 50% survive despite medical intervention

Answer 180

Not associated with other congenital abnormalities Herniation of abdominal contents to the right of umbilicus (bowel only, no liver!) Abdominal contents are not covered by sac - Risk of dehydration Management (normal delivery not CI) - Wrap and reduce either surgically or using a silo - NG feed + IV fluids

Answer 181

A.k.a. ‘omphalocele’ Associated with many other congenital abnormalities Abdominal contents protrude through umbilicus and is covered by sac (peritoneum + amniotic membrane) - Can contain liver Management - Allow sac to epithelialise - Gradual surgical reduction (need time to allow abdominal cavity to grow so it will be able to accommodate contents)

Answer 182

Necrotising enterocolitis - Infection of the bowel wall secondary to ischaemic injury > necrosis > perforation > peritonitis > shock - Can cause peritonitis Risk factors - Premature infants - Bottle-fed (formula) - Low birth-weight Presentation - Bloody diarrhoea - Feed intolerance + vomiting (+/- bile stained) - Distended abdomen with thin, shiny skin - Fever + signs of sepsis (tachycardia, tachypnoea, hypotension) Investigations - AXR (dilated bowel loops, pneumatosis intestinalis present in intestinal wall; if severe = perforation causing pneumoperitoneum) Management - NBM + A-E resuscitation - Broad spectrum antibiotics: IV metronidazole + gentamicin + ceftriaxone - Surgical removal of necrotic bowel - Supportive (e.g., ventilation)

Answer 183

Diseases of prematurity: - Chronic lung disease secondary to bronchopulmonary dysplasia - Retinopathy of prematurity - Neonatal hypoglycaemia - Necrotising enterocolitis - Neonatal respiratory distress syndrome (surfactant deficiency!) - Apnoeic spells (as they don’t ‘know’ how to breathe) - Intraventricular haemorrhage - Hypothermia Complications of premature birth: - Cerebral palsy - Learning disability - Seizures

Answer 184

Temporary increase in work of breathing of an otherwise healthy infant - Occurs shortly after birth and lasts < 24 hours - Increased risk if CS delivery O2 saturations are normally within normal range CXR shows hyper-inflated lungs with fluid in horizontal fissure Manage is supportive (unless O2 saturations are low, then give O2)

Answer 185

Surfactant helps reduce surface tension in alveoli allowing for easier expansion - Produced by type 2 pneumocytes from about 28 weeks - Lung collapse as difficult to expand = less gaseous exchange = hypoxia + hypercapnia = respiratory distress Presentation - Increased work of breathing - Low oxygen saturations CXR shows characteristic ‘ground glass appearance’ Management - Antenatal: maternal dexamethasone - Ventilation/O2 + surfactant delivered by ET tube to maintain saturations of 90-95% Risk factors - Premature delivery (especially without maternal corticosteroids) especially < 32 weeks - Maternal diabetes (insulin inhibits production of surfactant) Complications - Pneumothorax - IV haemorrhage - NEC - Apnoea - Chronic lung disease of prematurity - Retinopathy of prematurity

Answer 186

Bronchopulmonary dysplasia is the consequence of alveolar and bronchial damage from artificial ventilation

Answer 187

Inhalation of meconium causing chemical pneumonitis Commoner in post-date infants and those who have been exposed to hypoxia/stress - Chorioamnionitis - Smoking - Substance misuse Presentation - Meconium-stained liqueur - Respiratory distress Investigations - CXR (patches of collapse and consolidation, hyperinflation) - FBC, CRP, blood cultures Management - Antibiotics if respiratory distress (ampicillin + gentamicin) - Oxygen supplementation if necessary - If fine, observation is sufficient

Answer 188

Pathophysiology - Displacement of proximal femoral epiphysis from metaphysis - Direction = posterior inferior Definitions - Stable = can walk - Unstable = unable to walk even with crutches, risk of osteonecrosis is 50% Epidemiology - 10-15 years - M > F - Raised BMI - Can be post-trauma Presentation - Hip pain (acute or gradual onset depending on person) - Reduced internal ROM and abduction - Limp and leg shortening - DREHMANN’s sign = in supine position, the passively flexed hip falls back into external rotation and abduction - Acute onset might not weight-bear due to severity of pain - Chronic: muscle wasting, Trendelenburg + Investigations - XR hip (wide epiphyseal line, displacement of femoral head) - FBC, blood cultures, CRP Management - Immediate bed rest + analgesia - Surgical fixation across growth plate

Answer 189

Presentation Investigations Management Kocher Criteria - Fever > 38.5 - Cannot weight bear - WCC > 12 - ESR > 40 or CRP > 20

Answer 190

Abnormally shaped lateral meniscus - Meniscus cushions femur and tibia - Oval/discoid rather than crescent shaped - Thicker than ‘normal’ menisci Normally asymptomatic but (pivoting injury) can cause - Locking and ‘clicking’ sound when moving - Pain, swelling and stiffness - Feeling of ‘giving way’ Imaging of choice = MRI (bow tie sign, thick, flat meniscus) Management - 1st line: PT (stretching and strengthening exercises) - Surgery if significant disability

Answer 191

Presentation - Daily cyclical fevers + one of = Pink ‘salmon’ rash = Lymphadenopathy = Hepatosplenomegaly = Serositis - Arthritis (symmetrical oligoarthritis) - Malaise - Weight loss Investigations - RF (-) - ANA (+) - ESR and CRP (raised) - Ferritin (raised) - FBC (low Hb, raised WCC and platelets) Complications - Macrophage activation syndrome (VERY high ferritin, low ESR) = DIC, anaemia, thrombocytopenia, non-blanching rash

Answer 192

Affects > 4 joints within the first 6 months of disease - Stiffness, swelling, pain, warmth Associated with chronic anterior uveitis RF - is more common than RF + polyarticular JIA RF - *preschool and adolescents* - Symmetrical (more common) = small + large joints (especially fingers) - Asymmetrical = C-spine and temporomandibular joint // risk of uveitis! RF + *affects adolescents* - Similar to adult RA - Symmetrical and affects small + large joints (especially fingers) - Low grade fever + rheumatoid nodules - Hepatosplenomegaly, lymphadenopathy, serositis - Uveitis is rare but dry eyes are common

Answer 193

4 or fewer joints affected at 6 months of disease ANA +, RF - VERY likely to develop chronic anterior uveitis Asymmetrical stiffness, swelling, warmth and pain Commonly affects: - Knee > ankle - Wrist or elbows

Answer 194

Similar to adult AS = HLA-B27 +, seronegative (ANA, RF -) Risk of acute uveitis, psoriasis and IBD Presentation - Mainly lower limb - Mid lumbar spine/sacroiliac joint involvement - Enthesitis (plantar fasciitis) - Tender at areas of tendon insertion

Answer 195

JIA associated with psoriasis ANA and RF - Risk of chronic anterior uveitis Small joint arthritis is symmetrical but if large joints are affected, it is asymmetrical Associated: psoriasis, nail pitting, onycholysis, dactylitis Diagnostic criteria - Arthritis + psoriasis OR - Arthritis + 2 of 3 from: dactylitis, nail pitting/onycholysis, psoriasis in first degree relative

Answer 196

Try your best to avoid prescribing steroids in childhood 1st line: NSAIDs 2nd line (or 1st line if multiple joint involvement or joint requiring at over 3 intra-articular doses of steroids): MTX or sulfasalazine [not in systemic JIA] 3rd: tocilizumab, etanercept, adalimumab, abatacept and other biologics/cytokine modulators

Answer 197

Pathophysiology - Alpha-gliadin triggers an immune response in the proximal small intestine Presentation (around the age of weaning) - Distended abdomen - Failure to thrive, irritable - Gluteal wasting - Abdominal pain and bloating - Loose foul-smelling stools that float in the pan (steatorrhoea) - Dermatitis herpetiformis - Apthous ulcers - Angular stomatitis + atrophic glossitis + pallor/dyspnoea/fatigue (anaemia) - No blood or mucous in stools Investigations - IgA titres + IgA tissue-transglutaminase - 2nd line = IgA anti-endomysial antibodies - GS: duodenal biopsy (crypt hyperplasia, villus atrophy, lymphocyte infiltration) - Faecal calprotectin (negative) Management - Gluten-free diet (avoid wheat, barley and rye too)

Answer 198

Presentation (within first few days of life) - Bilious vomiting + intestinal obstruction - Abdominal distension - Abdominal pain (irritable neonate) - Constipation - Low BP, raised HR - High caecum at the midline Investigations - UGI contrast study - USS Management - A-E resuscitation - NBM + surgical correction (Ladd’s procedure)

Answer 199

Remnant of omphalomesenteric (vitelline) duct that connected midgut to yolk sac - Supplied by a terminal branch of superior mesenteric artery Rule of 2s - 2 years of age - 2:1 M>F - 2 inches long - 2 types of ectopic tissue (gastric and pancreatic) - 2 feet proximal to ileocaecal valve Presentation - Can be asymptomatic - Rectal bleeding (so PR bleeding in younger age is more likely to be Meckel’s than IBD) - Abdominal pain - Vomiting Investigations - USS 1st line - Technetium scan - FBC (low Hb, raised lymphocytes with left shift) Management - Asymptomatic = watchful waiting - Symptomatic = surgical excision Complications - Intussusception - Volvulus/incarceration/strangulation - Intestinal obstruction - Diverticulitis - Haemorrhage - Umbilical cyst/sinus/fistula/fibrous cord - Neoplastic change

Answer 200

Pathophysiology - Dilation of bile ducts causing outflow obstruction of bile - F>M and more common in East Asia Presentation - Obstructive jaundice (pale stools, dark urine) - Palpable abdominal mass - Intermittent RUQ pain - Others: hepatomegaly, bruising, ascites, gallstones (can cause pancreatitis) Investigations - GS: MRCP - Bilirubin (conjugated hyperbilirubinaemia) - LFTs (raised, cholestasis picture) - USS 1st line Management - Surgical excision! (As increased risk of cholangiocarcinoma .-.) - + biliary-enteric anastomosis

Answer 201

Pathophysiology - Telescoping of bowel causing small bowel obstruction - Mesentery is compressed = distension of wall and obstruction of lumen = disrupted peristalsis, pain and vomiting + ischaemia > gangrenous = perforation - Commonly ileocaecal but can also be ileo-ileal, etc. Risk factors *whatever that enlarges lymph nodes* - Rotavirus vaccine - HSP - Polyp - Peyer’s patch hyperplasia - Meckel’s diverticulum - Preceding infection (e.g., gastroenteritis or URTI) - Lymphoma - CF Presentation (< 18 months old) - Sudden-onset colicky abdominal pain + distressed (especially during spasms), unwell infant who is tired between episodes - Red-currant jelly-like stools - RUQ sausage-like mass - Absent bowel in RLQ (Dance’s sign) - Bilious vomiting - Can have signs of shock (fever, low BP, raised HR and RR) Investigations - USS (target sign) Management - A-E resuscitation + NBM + IV fluids + analgesia - 1st line = air enema - 2nd line = H2O enema - 3rd line = surgical intervention

Answer 202

Pathophysiology - Inflammation of the appendix - Faecolith or stool obstructs lumen = environment for bacteria to proliferate = infection and inflammation Presentation (rare < 2y) - Abdominal pain staring around the umbilicus before moving to RIF 2/3 way from umbilicus to right ASIS - Nausea and vomiting - Rovsing’s sign, rebound tenderness *Blumberg’s*, psoas sign - Guarding - Fever, anorexia, malaise - Patient lies STILL (as they will be peritonitic and pain is worse with movement) - Can have signs of shock (low BP, raised HR) Investigations - GS: USS abdomen (unlike adults where CT is preferred) - FBC (raised WCC) - CRP (raised) - Blood cultures Management - NBM + surgical referral for appendectomy - IV fluids + analgesia + antiemetic - Antibiotics (MTZ + ceftriaxone/cefuroxime)

Answer 203

Pathophysiology - Idiopathic medium vessel vasculitis - M > F and affects East Asians Presentation (think of the mnemonic ‘crash and burn’) - Fever > 5 days? Think Kawasaki - Diagnosis requires fever + 4 of - Bilateral non-exudative Conjunctivitis - Rash affecting the whole body - Adenopathy (cervical, unilateral!) - Strawberry tongue (also = fissuring of lips, erythema of oral mucosa, etc.) - Hands and feet (erythema, oedema, desquamation) Investigations - FBC (low Hb, raised platelets) - ESR and CRP (raised) - Echocardiogram (?coronary artery aneurysm) - LFT (low albumin, raised liver enzymes) - Dipstick (sterile pyuria) Management - High dose aspirin + IV immunoglobulins - Long-term follow up echocardiograms to screen for coronary artery aneurysm

Answer 204

‘Sore throat’ Commonly caused by viruses (EBV, adenovirus, rhinovirus, influenza and parainfluenza) or bacteria (s.pyogenes, s.pneumoniae, s.aureus, h.influenzae) Investigations - Rapid antigen testing - Throat swab + culture/PCR if need to confirm GAS infection - FBC + film (atypical lymphocytes if EBV) - LFT (raised if EBV) - Serum monospot test if suspecting EBV Management - If bacterial (centor 3 or FeverPAIN 4): phenoxymethylpenicillin - If viral: supportive and safety net

Answer 205

CENTOR - Purulent tonsils - Fever - Lymphadenopathy - No cough FeverPAIN - Fever - Purulent tonsils - Attending within 72 hours - Inflammed tonsils - No coryza/cough

Answer 206

Organisms - Neonatal: group B streptococcus (agalactiae), staphylococcus aureus, Klebsiella, E.coli - Pre-school: streptococcus pneumoniae - School-aged: group A streptococcus, Klebsiella, Bordetella, haemophilus, staphylococcus aureus, s.pneumoniae mycoplasma pneumoniae Presentation - Young children do not produce sputum - Cough, high fever (irritable, clingy, lethargic, poor feeding) - Dyspnoea - Can have abdominal pain - Increased work of breathing (tracheal tug, intercostal/subcostal recessions, tachypnoea, head bobbing, nasal flaring, abnormal breathing sounds, cyanosis, accessory muscle use) - Signs: tachypnoea, tachycardia, focal coarse crackles, bronchial breathing, dullness to percussion, increased vocal resonance, pleural rub Management - < 3 months = urgent referral to paediatrics for investigation/admission Antibiotics (> 3 months) - 1st line: amoxicillin - 2nd line: co-amoxiclav - If atypical add clarithromycin - Penicillin allergy = clarithromycin/erythromycin (pregnancy) - O2 if < 92%

Answer 207

LRTI commonly caused by RSV infection - Most common in infants < 12 months due to small airways - Hyponatraemia is a common complication Presentation - Winter months - Coryzal prodrome + mild fever - Increased work of breathing (tachypnoea, nasal flaring, head bobbing, intercostal/subcostal recessions, tracheal tug, accessory muscle use, cyanosis, apnoea, abnormal breathing sounds) - Widespread wheeze and hyper-inflated chest - Cough - Decreased feeding, lethargy, clingy, irritable Management - Supportive (antipyretics + fluids) - Oxygen if saturations are < 92% - NO OTHER MEDICATIONS - +/- suctioning if secretions are affecting feeding - Prophylactic pavilizumab if high risk of severe bronchiolitis infection

Answer 208

Laryngotracheobronchitis caused by parainfluenza infection or rarely, diphtheria - Common in 1-3 year olds Presentation (worse at night, worse on the 3rd night) - Commoner in autumn months - Barking cough - Inspiratory stridor - Hoarse voice - Coryzal prodrome + mild fever - +/- increased work of breathing (but child appears well vs acute epiglottitis) Management - Clinical diagnosis - 1st line: PO dexamethasone - 2nd line: IM dexamethasone or nebulised budesonide - 3rd: nebulised adrenaline + O2 if severe or an emergency When to admit? - Anyone with moderate-severe croup needs admission = Moderate: recessions + stridor at rest but normal alertness = Severe: as moderate but with agitation/lethargy - < 6 months old

Answer 209

A medical emergency - Do NOT aggravate the child as you risk them closing the airway! - Caused by Haemophilus influenza B (now very rare due to vaccinations) Presentation - Very acute onset - Drooling + tripod position + ill-looking child - High fever - Sore throat and dysphagia - Barely breathing (no/soft stridor, no wheeze, no cough) as the airway is extremely narrow - Muffled voice Management - Escalate to senior paediatrician and anaesthetist - Secure airway then give IV ceftriaxone - +/- dexamethasone Investigations (NOT required) - XR (thumb-print sign) - Fibre-optic laryngoscopy Complications - Epiglottic abscess

Answer 210

Commonly caused by RSV or rhinovirus Presentation (acute onset) - < 5 years and well between episodes unlike asthma - Widespread wheeze, dyspnoea and increased work of breathing on background of viral illness (cough, coryza, fever) - Decreased feeding, lethargy, irritability, clingy Investigations - None Management (like acute asthma without steroids) - Salbutamol inhaler given with a spacer - 2nd line: salbutamol + O2 - 3rd: nebulised salbutamol - 4th: ?IV MgSO4, aminophylline - 5th: intubation and ventilation

Answer 211

Pathophysiology Presentation Investigations Management - Diet: high calorie + high fat + enzyme supplements at every meal Complications - Infertility - Recurrent chest infections causing bronchiectasis - Respiratory failure

Answer 212

Infection and inflammation of the middle ear commonly caused by streptococcus pneumoniae or staphylococcus aureus Risk factors - URTI - Supine feeding, dummy use - Measles infection - Parental smoking - Attending nursery - Cleft palate, trisomy 21, Turner syndrome - Primary ciliary dyskinesia, immunosuppression Presentation - URTI: fever, irritability, malaise, coryza, sore throat - Acutely painful ear (tugging ear) - Conductive hearing loss - Vertigo/dizziness if vestibular system involved - +/- discharge - Crying, vomiting, poor feeding - Otoscopy: red, bulging tympanic membrane with effusion behind tympanic membrane Managment - Supportive - If < 18 years can give anaesthetic + analgesic drops - Antibiotics only if perforation or systemically unwell or < 2 years and bilateral AOM: PO flucloxacillin or co-amoxiclav

Answer 213

Risk factors - Trisomy 21 - CF - Primary ciliary dyskinesia Presentation - Problems with balance - Conductive deafness - Ear fullness - Otoscopy: dull, retracted tympanic membrane with visible fluid-level Investigations - Audiometry - Tympanometry Management - 3 month watchful waiting + valsalva manoeuvre - Grommets or myringotomy - Hearing aids

Answer 214

Pathophysiology - Abnormal collection of keratinised squamous cell epithelial cells in middle ear - Very locally invasive (intracranial abscess, CN7 palsy, sensorineural hearing loss) Presentation - Foul smelling discharge - Unilateral conductive hearing loss (if not yet invaded nerves) - Pain - Vertigo - CN7 palsy Investigations - Otoscopy: deep retraction pocket with white debri in upper tympanic membrane - MRI Management - ENT referral for surgical excision - Semi-urgent referral unless neurological symptoms are present

Answer 215

Causative organism: pseudomonas aeruginosa or staphylococcus aureus Malignant OE = infection causing osteomyelitis of temporal bone + adjacent structures (ENT urgently + IV antibiotics) Presentation - Acutely painful ear canal and pinna - Fever - Discharge + itching - Erythematous tympanic membrane Management - No swimming for 7-10 days - Mild: acetic acid drops - Moderate-severe: antibiotic (cirprofloxacin, gentamicin) + steroid (betamethasone, dexamethasone, hydrocortisone) - Severe: PO flucloxacillin or clarithromycin

Answer 216

Eyes - Checks for congenital cataract and retinoblastoma - Checks that there are 2 eyes - Congenital cataract = absent red reflex - Retinoblastoma = white reflex - Abnormality at birth = seen within 2 weeks - Abnormality at 6-8 week check = seen by 11 weeks old Heart - Listening for murmurs - Palpate brachial and femoral pulses - Abnormality = seen before discharge home Hips - Barlow and Otolani’s tests - Abnormality at birth = seen by orthopaedics by 6 weeks - Abnormality at 6-8 weeks = seen by 10 weeks Who else gets USS hip? - FHx early childhood hip problems - Breech at delivery from 28 weeks - Breech from 36 weeks no matter presentation at delivery - Twin (or more) pregnancy where at least one meets the breech criteria as above Testes - Checks for hyposphadias - Bilateral = urgent paediatric review - Unilateral = review at 6-8w check, if still undescended = re-check at 4-5 months and if still undescended = urgent urology referral

Answer 217

Newborn: autoacoustic emissions test - If unsure or suspecting hearing impairment = proceed to brainstem auditory stimulation test School-age: pure-tone audiometry when entering school

Answer 218

> 12 years have the same vital ranges as adults A high fever that does not respond to antipyretics generally indicates bacterial infection

Answer 219

High dose aspirin + IV immunoglobulins NOT steroids

Answer 220

Jittery movements Hypertonia Hyperreflexia Seizures Drowsiness/coma

Answer 221

Refer to midwife-led breastfeeding clinic if > 10% birthweight is lost within first week of life

Answer 222

Seizure occurring after pain/discomfort - Increased vagal response triggers cardiac asystole Child becomes pale and falls to the ground Associated with tonic colonic movements but with rapid recovery

Answer 223

Child is upset - crying/screaming and holds breath in expiration Goes blue, apnoeic and falls to the ground (requires breath to be held for some time)

Answer 224

Achondroplasia Huntington’s Ehlers-Danlos Noonan syndrome Neurofibromatosis Tuberous sclerosis Marfan’s OI

Answer 225

Thalassaemia Sickle cell Friedreich’s ataxia CF Congenital adrenal hyperplasia Galactosaemia Haemachromatosis Oculocutaneous albinism Tay-Sachs

Answer 226

Haemophilia Fragile X syndrome Duchenne’s G6PD deficiency Red-green colour blindness

Answer 227

EBV infection taking amoxicillin Presents as a generalised maculopapular rash

Answer 228

Bacterial tracheitis- does not improve with croup treatment Caused by staphylococcus aureus

3a Paediatrics Flashcards

(269 cards)