Paediatrics - RF, pathology and symptoms Flashcards

Question

Coarctation of the aorta RF Pathology Sx Investigations Treatment

Answer 1

RF- Males, turner's syndrome, family history Pathology Narrowing in the aorta (most commonly at the site of the insertion of the ductus arteriosus) High pressure before the narrowing and low pressure after the narrowing (where the body is) - results in RAAS and thus even more increased BP Sx - Hypertension (longstanding and difficult to treat) - Diminished lower extremity pulses - Radio-femoral delay Investigation - TOE - CXR - ECG Tx - Balloon dilation - Surgical removal of the coarcted segment (Prostaglandin E1 to maintain patency of ductus ateriosus (in neonates))

Answer 2

RF - Cardiomyopathy (inherited), heart valve disease, infection, anaemia, arrhythmias Pathology - The heart does not pump blood as well as it should due to causes mentioned above Sx - Swelling (oedema) - of the feet, ankles and lower legs - Dyspnoea - Frontal sweating - Poor feeding and weight gain (in infants) - but weight loss in children - Fatigue and irritability - Chest pain

Answer 3

RF - Poverty, overcrowded living, family history, indigenous Pathology Develops post s.pyogenes infection (2-4 weeks later) Antibodies against M protein (found in the cell wall of s.pyogenes) cross reacts with myosin of the arteries Commonly affects mitral valve Sx - Recent sore throat/skin infection - Fever - Joint pain (commonly knees/ankles) - Chest pain - Dyspnoea - Pericarditis - friction rub

Answer 4

RF - Previous episode of IE, prosthetic heart valves, cyanotic congenital heart diseases, (acquired valvular heart disease, hypertrophic cardiomyopathy) Pathology Mitral valve - most commonly affected. Tricuspid valve - most common in IVDU S.aureus - most common cause S.viridans - associated with poor dental hygiene S.epidermidis - in prosthetic valve patients Sx - Fever - Murmurs - night sweats, malaise, fatigue, weight loss, myalgia - Arthralgia - Headache - Dyspnoea

Answer 5

Supraventricular tachycardia Heart rate between 250-300 beats per minute. It can lead to poor cardiac output (Stroke volume is reduced as the heart rate is too fast to allow for the ventricles to fill with blood) and pulmonary oedema. In the neonate/infant, it can cause hydrops fetalis (severe swelling in the body due to large amounts of fluid from the baby's bloodstream entering the tissues) and intrauterine death. Sx Chest pain Fatigue Weakness Dyspnoea Investigations ECG - shows narrow complex tachycardia (250-300bpm) Management - Vagal stimulating manoeuvres e.g. carotid sinus message - IV adenosine (given incrementally in increasing doses) - Electrical cardioversion with a synchronised DC shock (if adenosine fails)

Answer 6

Vasovagal (neurocardiogenic) --> Vagus nerve is overstimulated by stressors causing HR to slow and vessels to dilate leading to reduced blood flow to the brain- Triggers - Prolonged standing - Sight of blood/donating blood - Dehydration - Emotional stress - Trauma/pain Prolonged standing and vagal symptoms Orthostatic - Fall in BP on standing Arrhythmic - Heart block, SVT, VT Most cases of syncope are non-cardiac but if symptoms are experienced on exercise, palpitations are felt then it is suggestive of cardiac cause

Answer 7

RF - preterm birth, hiatus hernia, neurodevelopment disorders - Cerebral palsy + down's syndrome, family history, fluid diet, short oesophagus Pathology - Usually a result of a functionally immature lower esophageal sphincter that inappropriately relaxes--> allowing stomach contents to pass back up. In a horizontal position, gravity can't keep the food in the stomach Sx - Regurgitation - Distress e.g. excessive crying - Feeding difficulties - Faltering growth (Older children - retrosternal pain, dysphagia - red flag) Investigations - Clinical diagnosis unless red flags 1) Oesophageal pH impedance monitoring (24 hours) 2) Endoscopy (to identify oesophagitis and exclude other causes) Tx First line - 1-2 week trial of an alginate e.g. gaviscon (for breastfed infants) - Upright positioning at 30 degrees - Feed thickening (first line for bottle fed infants) - PPI/H2 receptor antagonist Definitive - Nissen fundoplication

Answer 8

Conditions in children leading to impaired oral intake - multifactorial and associated with medical, nutritional, feeding skills and/or psychosocial dysfunction RF - Prematurity, developmental delay, cerebral palsy, anatomical abnormalities of the oropharynx/GI tract, down's syndrome Sx - Feeding for >30 mins(breast feeds usual 15-20 mins) - Faltering growth - Food refusal and irritability - Vomiting Investigations - Temporary exclusion of cows' milk protein - Oesophageal pH impedance study - Trial of a lactose free diet - Anti TTG antibodies - coeliacs Tx - Feeding advice and nutritional support (Treat the condition - feed thickener, PPI, NG tube, dietary modification)

Answer 9

Hypertrophy of the circular muscles of the pylorus leading to gastric outlet obstruction. RF- first born male infant, males (4x more common), family history Pathology - Usually presents 2-7 weeks of age. Sx - Projectile vomiting (30 minutes after a feed) - Hypochloraemic, hypokalaemic (metabolic) alkalosis due to persistent vomiting - Dehydration (low chloride and potassium from vomiting) and constipation - Palpable mass in upper abdomen (may not be present) - Poor weight gain - May see visible gastric peristalsis from left to right across the abdomen.

Answer 10

RF - Infants <5 months, exposure to cigarette smoke, lack of breastfeeding Sx - Paroxysmal, inconsolable crying often accompanied by drawing up of the knees. (in an otherwise healthy baby) (crying for more than 3 hours a day for more than 3 days a week for at least 3 weeks) - Worse in the evening

Answer 11

RF - <5 years, poor hygiene, exposure to people with gastroenteritis, lack of breastfeeding, lack of immunisation against rotavirus, winter, recent travel Pathology - Most common cause of gastroenteritis in children in the UK = Rotavirus. - rotten egg smell of stool - Bacterial causes are less common - suggested by presence of blood in stools (campylobacter jejuni) Sx - Diarrhoea (5-7 days) - Vomiting (1-2 days)

Answer 12

Dehydration leading to shock (Shock = decreased level of consciousness, cold extremities, weak peripheral pulse, prolonged cap refill time) Increased risk (infants are at risk of dehydration due to a greater surface area to weight ratio --> greater insensible water loss) - Infants with low birth weight - Children younger than 1year (especially <6 months) - Passed >6 diarrhoeal stools in the past 24 hours - Vomited >3 times in the past 24 hours - Children with signs of malnutrition hyponatremic dehydration (when children with diarrhoea drink large quantities of water) - convulsions, hypertonia, hyperreflexia, drowsy Hypernatremic dehydration (seen in early breastfeeding life - difficulty latching and feeding)

Answer 13

The infrequent passage of dry, hardened faeces often accompanied by straining or pain. Whist most children have no identifiable cause. Potential causes include: - Dehydration - Low fibre diet - Medication e.g. opiates - Hirschprung's disease - Hypothyroidism, hypercalcemia Frequency of normal bowel habits range from 3 times/day for infants under 6 months to once a day after 3 years. Sx - Fewer than 3 complete stools per week (in solely breastfed children, 1 stool a week is normal) - Poor appetite - Distress/pain/straining on passing stool - Possible bleeding - Faecal impaction (can be felt on palpation in the abdomen - LLQ+ possible overflow soiling) Idiopathic constipation vs red flag - Starts after a few weeks of life (usually precipitated by acute changes in life - infection, moving house, changing care home) - starts from birth/first few weeks of life - <48 hours passage of meconium/>48 hours - Generally well, weight and height within normal limits/faltering growth - No abdominal distension/ abdominal distension

Answer 14

RF- Down syndrome, males, family history Pathology Caused by the absence of parasympathetic ganglion cells in a segment of the bowel due to a developmental failure of the parasympathetic auerbach and meissner plexuses. --> leads to uncoordinated peristalsis --> functional obstruction Sx - Failure/delay to pass meconium (neonates) - within 24-48 hrs - Constipation, abdominal distension (older children) - Bilious vomiting - Faltering growth

Answer 15

Retrocaecal appendicitis - Pain is less localised, and can be felt in the back/flank Pelvic appendicitis - Frequency of micturition (contact with bladder) - Diarrhoea (contact with rectum) - Hypogastric pain on flexing and internally rotating the hip (contact with obturator internus)

Answer 16

Pathology - Failure of the vitelline duct to obliterate leading to an intestinal blind pouch. (2 inches long) - distal ileum Sx - Usually asymptomatic - Can present with painless severe rectal bleeding (which requires a transfusion in children between 1 and 2 years) - Intestinal obstruction Investigation - 99m technetium pertechnetate scan Tx - Surgical removal if symptomatic

Answer 17

The most common cause of persistent loose stools in a well, thriving, preschool child. (not caused by any conditions e.g. coeliacs, gastroenteritis, IBD) Pathology - A maturational delay in intestinal motility causes intermittent explosive loose stools with undigested vegetables often present. (By introducing fat to the diet, it can slow gut transit to help relief symptoms) No particular treatment - usually by age 5 will grow out of symptoms

Answer 18

Sx - Delayed puberty - Abdominal pain - Diarrhoea (no blood) - Weight loss Extraintestinal - Oral lesions - Uveitis - Arthralgia - Erythema nodosum

Answer 19

RF - HLA DQ2 and HLA DQ8 Pathology Usually present before 3 years (following introduction of gluten containing food into diet e.g. cereal) Repeated exposure to gluten leads to villous atrophy which in turn causes malabsorption. Sx - Failure to thrive - short stature - Diarrhoea (foul smelling stools - might be floating) - Irritability - Abdominal distension - (older children may present with anaemia)

Answer 20

A term used for children with below-expected weight for age, weight for length or BMI for age. (essentially - depressed rate of growth for your age) RF - Small for gestation age, GI problems, cerebral palsy, prematurity, autism, swallowing disorder Causes - Poor access to healthy food - Household chaos leading to irregular mealtime routines - Chronic fever/infection - Feeding problems - poor oral motor skills, cerebral palsy, GORD - Swallowing problems - Persistent vomiting - Pyloric stenosis - Coeliac disease - Chronic diarrhoea/vomiting

Answer 21

Describes the invagination of proximal bowel into a distal segment RF - Males, 2-12 months, previous viral illness Pathology - Most commonly involves the ileum passing into the caecum through the ileocaecal valve. - Commonest cause of intestinal obstruction in infants after the neonatal period (Can be associated with tonsilitis/ear infection) Sx - Intermittent, severe, crampy abdominal pain (during episodes, child may become pale and draw up their legs) - Inconsolable crying - Vomiting - Sausage shaped mass in the RUQ on palpation - Redcurrant jelly stool - blood stained mucus

Answer 22

- Occurs in around 3-6% of all children, typically presenting in the first 3 months of life in FORMULA-fed infants. Both immediate (IgE mediated - CMPA) and delayed (non-IgE mediated- CMPI) reactions are seen Sx - Regurgitation and vomiting - Diarrhoea - Urticaria/atopic eczema - Irritability, crying - Wheeze (Rarely anaphylaxis)

Answer 23

It involves the obliteration/discontinuity within the extrahepatic biliary system --> resulting in an obstruction in the flow of bile (cholestasis) Atresia = absent/narrowing RF - Females, viral infection (weak rf) Pathology Presents within the first 2-8 weeks of life. Type 1 - The common bile duct is obliterated Type 2 - Atresia of the cystic and hepatic ducts Type 3 - most common ---> atresia of the left and right bile ducts to the level of the porta hepatis (atresia of almost all extrahepatic ducts) Sx - Persistent jaundice beyond 2 weeks - Dark urine and pale stools - Appetite and growth disturbance - Easy bruising due to vitamin K deficiency (lack of bile to emulsify fat) - Hepatosplenomegaly - Floating stools (foul smelling)

Answer 24

RF - Males, decreased gestational age Jaundice <24 hours - Rhesus incompatibility - ABO incompatibility - G6PD deficiency - Spherocytosis - Congenital infection Jaundice at 24 hours - 2 weeks - Physiological jaundice - Breast milk jaundice - (Bottom 2 conditions mentioned in <24 hours) - Polycythaemia - Crigler-Najjar syndrome - deficiency of UDP glucuronosyl transferase - UGT1A1 (unconjugated hyperbilirubinemia) - type 2 can be treated with phenobarbital Jaundice at >2 weeks of age Unconjugated - Physiological - Breast milk jaundice - Hypothyroidism - Haemolytic anaemia Conjugated - Bile duct obstruction - Neonatal hepatitis syndrome (congenital infection, A1AT deficiency, cystic fibrosis) Others - Gilbert's disease - mild deficiency of UDP glucuronosyl transferase (UGT1A1) - Alagille syndrome - bile builds up in the liver as there are too few bile ducts to drain the bile Complication - Too much bilirubin in the blood can lead to kernicterus --> which is damage to the brain (basal ganglia) or CNS (poor feeding, fever, vomiting, respiratory distress, negative startle reflex, apnoea, irritability, other cognitive disabilities (CP, hearing loss, learning disability), hypertonia)

Answer 25

Prolonged neonatal jaundice and liver inflammation that usually occurs between 1 and 2 months after birth. Pathology 20% caused by Virus infection - Rubella - Cytomegalovirus - Hepatitis virus A,B,C 80% idiopathic - Genetic disorders - A1AT deficiency (AAT protein that is produced is the wrong shape and can't get out of the liver --> it builds up causing liver cell death, inflammation of the liver and hepatitis) Sx - Jaundice - Dark urine and pale stools - Failure to thrive - Pruritus (bile buildup in skin) Investigations - Total serum bilirubin - Liver biopsy Tx - Vitamin supplements (ADEK) - Ursodeoxycholic acid/cholestyramine (promotes bile flow and alleviates pruritus)

Answer 26

The development of massive hepatic necrosis with subsequent loss of liver function (with/without hepatic encephalopathy) Pathology Most common cause - Paracetamol overdose Viral hepatitis - A, B, C Sx - Jaundice (within hours/weeks) - Encephalopathy - irritability, confusion, nystagmus, ataxia, seizures, reduced consciousness

Answer 27

RF - <1 year, females, uncircumcised boys in the first year of life, non breast-fed children (lack of protection), previous UTI, vesicoureteral reflux (urine travels back from the bladder to the kidneys) Pathology - E.coli - Most common cause - Proteus, Klebsiella, pseudomonas Predisposing factors - Incomplete bladder emptying - Vesicoureteral reflux - found in 35% of children who present with UTI - Ureters are displaced and enter the bladder directly rather than at an angle - Constipation - could put pressure on the bladder leading to urinary retention and bacterial growth Sx Infants: Poor feeding, vomiting, irritability Children: Dysuria, frequency, haematuria, febrile convulsion, fever, abdominal pain (Enuresis) (Upper UTI: fever, loin pain.)

Answer 28

It can damage the growing kidney by forming a scar, predisposing to hypertension and chronic renal failure - if scarring is bilateral.

Answer 29

(Most children achieve continence by 3-4 years old) RF - Males Enuresis - The involuntary discharge of urine in a child aged 5 or older, in the absence of congenital or acquired defects (of the nervous/urinary system) Pathology Primary - The child has never achieved continence Secondary - The child has been 'dry' for at least 6 months before (Emotional upset - most common cause) Potential causes: recent UTI, constipation (faecal impaction reducing bladder volume), polyuria (from diabetes/CKD)

Answer 30

Nephrotic syndrome defined by the triad of: Proteinuria, hypoalbuminaemia, peripheral oedema RF - 2-5 years, Pathology: Overall basement membrane becomes highly permeable to protein Most commonly - Minimal change disease (podocyte effacement - increasing permeability of the basement membrane) (may be secondary to NSAIDs, hodgkin's lymphoma, vasculitis/SLE) Sx - Frothy urine - proteinuria - Hyperlipidemia and weight gain (liver increases production of lipoproteins to compensate for loss of albumin) - Oedema e.g. periorbital, scrotal, ankle, leg oedema - Increased risk of infection (due to loss of immunoglobulins) - Increases risk of thromboembolism (due to loss of antithrombin 3) (breathlessness - from pleural effusion)

Answer 31

1) Hypovolaemia - during oedema formation, the intravascular compartment may become volume depleted. 2) Hypercoagulability - increased risk of thrombosis - urinary loss of antithrombin 3 and plasminogen (DVT, PE) 3) Increased risk of infection - loss of immunoglobulins 4) Hyperlipidemia (liver increases production of lipoproteins to compensate for loss of albumin)

Answer 32

A clinical syndrome that presents with haematuria, hypertension, oedema and oliguria Pathology 1) IgA nephropathy/Henoch schnolein purpura (rash/joint pain) - symptoms preceded by URTI 3-4 days before (Mesangial IgA deposits at glomerular BM) 2) Post-strep glomerulonephritis - symptoms preceded by infection 2-4 weeks before (molecular mimicry of M virulence factor - immune complex deposition at GBM) 3) Good pastures - causes pulmonary-renal syndrome (glomerulonephritis and pulmonary haemorrhage) - haemoptysis 4) Lupus nephritis (Asians and african carribeans) Sx Haematuria Hypertension Oliguria Oedema - especially around the eyes

Answer 33

Sudden, potentially reversible reduction in renal function --> leading to a rise in serum creatinine and/or fall in urine output RF - Older age (>65 years), sepsis, CKD, heart failure, diabetes, medications (NSAIDS, diuretics, ACE inhibitors) Pathology Pre-renal commonest form in children Acute tubular necrosis (due to prolonged ischaemia or a toxic event) – MOST COMMON FORM OF AKI → Hypoxaemia results in cellular dysfunction and death. → has muddy brown casts on urinalysis Symptoms Typically asymptomatic Hypotension (reduced perfusion) Palpable bladder or enlarged prostate (obstructive cause) Kidney insults (sepsis or other acute illness) Oliguria - reduced urine output

Answer 34

Pre-renal (most common in children) - reduced kidney perfusion - Hypovolaemia (dehydration, gastroenteritis, sepsis, nephrotic syndrome) - Heart failure Renal - Acute tubular necrosis - Haemolytic uraemic syndrome - Glomerulonephritis - Interstitial/pyelonephritis - Vasculitis - Renal vein thrombosis (nephrotoxic drugs, Ace inhibitors, amphotericin B, aminoglycosides, NSAIDS) Post renal - Obstruction - kidney stones, tumours, strictures, BPH - Blocked urinary catheter

Answer 35

RF - Diabetes, hypertension, >55 (more common in adults) Having a GFR < 60ml/min/1.73m^2 for > 3 months. Causes Most common: Diabetes - Hypertension - Polycystic kidney disease - Obstructive uropathy - Glomerulonephritis Sx (FOPPA) - Fatigue - Oedema - Polyuria, polydipsia - Pruritus - Anorexia Nausea and vomiting

Answer 36

When a person with CKD experiences a sudden worsening of kidney function. Precipitated by: Pre-renal (reduced blood flow to the kidneys) - Dehydration - Heart failure (poor kidney perfusion) Renal - Infections (UTI, LRTI) - Nephrotoxic drugs (Sudden decrease in urine output, worsening oedema, metabolic acidosis) Treat underlying cause

Answer 37

A condition where the opening of the urethra is on the underside of the penis (instead of at the tip) Pathology - One in 300 boys - Most severe is penoscrotal Associated with - A ventral urethral meatus (below where the urethra is meant to open) - Chordee - Hooked shaped penis - ventral curvature - Cryptorchidism - Undescended testes Sx - Difficulty with targeting - Incontinence (Sexual dysfunction later on) Investigation Clinical examination (X-ray) Treatment - Correction surgery within the first 1-2 years of life

Answer 38

Inability to retract the foreskin If the issue is non-retractile foreskin and/or ballooning during micturition in a child under 2, an expectant approach should be taken - possibility of physiological phimosis (which resolves with time) (Pathological phimosis (Balanitis xerotica obliterans) - white scarring of the foreskin) - circumcision - Forcible retraction can result in scar formation and should be avoided - Personal hygiene is important - If child is >2 years and has recurrent UTI or other infections, then treatment e.g. topical steroids (hydrocortisone), circumcision

Answer 39

ADPKD can lead to both - Renal agenesis --> Absence of one or both kidneys As amniotic fluid is mainly derived from the fetal urine, renal agenesis can lead to oligohydramnios (low amniotic fluid levels) --> Amniotic fluid helps with cushioning and protecting the baby from infection. It also helps develop the respiratory and digestive system. (Oligohydramnios --> Potter syndrome) - Multicystic dysplastic kidney - A condition where 1/2 of the kidneys do not develop and function normally. Cysts replace normal kidney tissue. (Can lead to Potter syndrome if bilateral - as no urine will be produced) (Hypertension and haematuria) - Horseshoe kidney --> predispose to infection/obstruction to urinary drainage. (associated with chromosomal conditions)

Answer 40

Developmental abnormality where the ureters are displaced and enter perpendicularly into the bladder rather than at an angle. --> leads to urine travelling from the bladder to the kidney Mild reflux is not that significant Severe reflux - Intrarenal reflux --> the backflow of urine from the renal pelvis into the collecting ducts (HIGH risk of renal scarring if UTI occurs) Sx - (presenting with recurrent UTIs) --> Increased risk of UTI, which can lead to renal scarring - Reflux nephropathy --> or chronic pyelonephritis (secondary to VUR) (bladder voiding pressure is transmitted to renal papillae which can contribute to renal damage if voiding pressures are high)

Answer 41

RF - Ingestion of contaminated food/water, exposure to infected individuals, <5 years Pathology Triad of - Acute kidney injury - Microangiopathic haemolytic anaemia (MAHA) - Thrombocytopenia 1) Shiga toxin enters GI mucosa and localises in the kidney where it causes clots (thrombogenesis). 2) Platelets are consumed in this process and MAHA results from damage to RBCs as they circulate through the occluded vessels (brain, pancreas and heart may also be involved) Primary HUS (atypical) - genetic predisposition Secondary HUS (typical) - Shiga toxin produced by E.coli (most common) - Pneumococcal infection - HIV Sx - Bloody diarrhoea - Abdominal pain - Vomiting, Decreased urine output (AKI) - Fatigue, bruising, paleness (anaemia and thrombocytopenia)

Answer 42

A chronic neurological disorder characterised by recurrent unprovoked seizures consisting of transient signs/symptoms associated with abnormal/excessive neuronal activity of the brain.

Answer 43

RF - 3-8 months, Male, Brain malformation, ash-leaf spots (found in tuberous sclerosis), previous vascular event, inherited metabolic disorders Pathology Many causes - neurological related e.g. hypoxic ischemic encephalopathy, neuronal development disorders, metabolic disorders, genetic disorders - down syndrome Sx (Most likely had a perinatal complication - HIE, traumatic birth injury) - Salaam attacks -->Jackknife flexion of the head, trunks and arms followed by extensions (lasts 1-2 seconds, happens about 50 times) (often on waking) - Abnormal eye movements NOT GOOD PROGNOSIS

Answer 44

Age - 1-5 years Pathology Could be an extension of infantile spasms Sx - History of infantile spasm - Mostly atonic, tonic and atypical absence - Moderate-severe mental handicap (neurodevelopmental regression/behaviour disorder)

Answer 45

15% of all childhood epilepsies - more common in males, 4-12 years Sx - Usually occur at night or on waking up - Paraesthesia (unilateral face) - Secondary generalisation --> tonic clonic Investigation EEG - Focal sharp waves from the rolandic/centrotemporal area FBC, UnE Tx Seizures stop by adolescence (Excellent prognosis)

Answer 46

RF - Teenage girls Sx - Sudden, Infrequent generalised seizures following sleep deprivation (often in the morning) - e.g. throwing drinks/cornflakes about in the morning - myoclonic - Daytime absences

Answer 47

An umbrella term referring to a non-progressive disease of the brain originating during antenatal, neonatal or early postnatal period --> resulting in disorders of movement and postural development. (whilst it is caused by non-progressive brain injury, the manifestations can evolve) RF - Prematurity, low birth weight, meningitis, maternal illness, birth asphyxia - hypoxic ischemic encephalopathy, head trauma Pathology - Usually affects the basal ganglia and the substantia nigra Sx - Delayed motor development (usually sit by 6 months and crawl by 9 months) - Hand preference before 12 months - Abnormal gait - Muscle weakness - Delay in speech development (short sentences by 2 years) - Abnormal persistence of primitive reflexes e.g. morro reflex (past 6 months) - Initial hypotonia that becomes hypertonia (some will have squint, learning difficulties, epilepsy, hearing impairment)

Answer 48

Rf - Preterm infants fed cow's milk formula A serious illness affecting preterm infants in the first few weeks of life (One of the leading causes of death in preterm infants) Pathology - Associated with bacterial invasion of ischemic bowel wall (in preterm babies, we need to give them milk/feed - but their gut isn't fully developed so can lead to bacterial growth and invasion) Sx - Feeding intolerance - Abdominal distension (which can lead to perforation and peritonitis) - Bloody stools - Vomiting (possibly bile stained)

Answer 49

Trisomy 21 RF - Advanced maternal age, previous child with down's syndrome - Most common genetic cause of severe learning difficulties (1 in 650 people have down syndrome) Sx - Hypotonia and motor skills delay - Round face, flat nasal bridge - Flat occiput, single palmar crease, incurved fifth finger, wide sandal gap between big and second toe - Epicanthic folds near the eyes - Hearing loss (and ear infections) Brushfield spots (grey/brown spots in the iris) - (Constipation) (Associated with autism) Complications - Congenital heart disease - Atrioventricular septal defect - Duodenal atresia - Short stature - Hypothyroidism - Impairment of vision and hearing - Malignancies - AML, ALL

Answer 50

1) Macular rash - Non-palpable rash with colour changes - Measles, Rubella 2) Papular rash - Palpable rash with raised, solid lesions - Gianotti-Crosti syndrome (triggered by Coxsackie virus or EBV) 3) Vesicular rash - Elevated lesions filled with clear fluid - Chicken pox, herpes simplex, herpes zoster 4) Petechiae - A small red/purple spot that is not elevated and non blanchin - Meningococcal septicaemia 5) Crusts - Hard outer layer of lesions which may be dried or pus from ruptured vesicles - Impetigo

Answer 51

3 months - Little or no head lag on being pulled to sit - Lying on abdomen, good head control 6 months - Lying on abdomen, arms extended - Lying on back, lifts and grasps feet - Rolls front to back (6-9 months) - Sits without support 9 months - Crawls - Pulls to standing 12 months - Cruises (10-12 months) 13-15 months - walks unsupported 2 years - Runs - Walks up and down stairs 3-5 years - hops on one leg

Answer 52

3 months - Turns towards sound - Squeals 6 months - Double syllables - googoo, etc 9 months (6-9) - Says mama and dada 12 months - Knows and responds to own name 2 years - Combine two words e.g. big truck - Points to parts of the body 3 years - Short sentences - What and who questions - Identifies colours 4 years - Asks why, when and how questions

Answer 53

6 weeks - Smiles 3 months - Laughs 6 months - Puts hand on bottle when being fed 12-15 months - Drinks from cup + uses spoon - Waves bye bye (10-12 months) 2 years - Using spoon (18-24 months), doesn't spill cup

Answer 54

3 months - Reaches for object - Visually alert - can follow movements in more than 1 plane 6 months - Palmar grasp - Transferring objects between hands - Looking in every direction (visually insatiable) 9 months - Points with finger 9-12 months - Pincer grip - Interest in pictures, toys, object permanence (7-12 months) 15 months - Tower of 2 bricks 18 months - Tower of 3 bricks 2 years - Tower of 6 bricks (Copying circles - 3 years, copying cross - 4 years)

Answer 55

RF - (usually before 2 years old but 50% clears by 5 years), family history, allergic rhinitis, asthma Sx - Itchy, erythematous rash - In infants (appears on face and trunk) - In older children - flexor surfaces and creases of the face and neck Investigations - Clinical diagnosis Tx - Avoid irritants e.g. soap and biological detergents, - Emollients - Topical steroids (hydrocortisone) - Wet wrapping bandage (useful when scratching is a problem) 2nd line in severe cases - Oral ciclosporin/prednisolone --> immunosuppressant

Answer 56

RF - Active cancer, anticonvulsants, recent infection, recent antibiotic use, SLE Pathology A systemic immune reaction to foreign antigens affecting the skin and mucosa. (almost always caused by drug reaction) E.g. - Penicillin - Lamotrigine, carbamazepine, phenytoin - Allopurinol - NSAIDS - Oral contraceptives Sx - Maculopapular rash (which may develop into vesicles) - Nikolsky sign - when rubbing of the skin dislodges the top layer of the epidermis from the bottom layer - Mucosal involvement (e.g. eyes - conjunctivitis, lips, mouth, pharynx, oesophagus, genital area) (fever, arthralgia) (Investigation - skin biopsy showing keratinocyte apoptosis, otherwise really a clinical diagnosis) Tx - Hospital admission for supportive treatment (E.g. IVIg, ciclosporin, steroids)

Answer 57

RF - family history of allergic rhinitis, asthma, eczema, <20 years, exposure to aeroallergens (pollen, moulds, dust, pollution) Pathology An IgE mediated inflammatory nasal condition resulting from allergen exposure in a sensitised individual Sx - Sneezing (if it is seasonal- most likely hay fever) - nasal pruritus - clear nasal discharge - Post nasal drip - leading to cough Tx - Intranasal corticosteroid - Beclometasone nasal spray - oral/intranasal antihistamines (for mild symptoms) - Avoid allergens

Answer 58

RF - Family history, exposure to food/drug trigger, recent viral infection, recent insect bite/sting Pathology A superficial swelling of the skin - most commonly caused by allergy (IgE mediated) (Chronic urticaria - autoimmune cause) Sx (hives) - Erythematous, blanching, pruritic lesions that develop rapidly (over minutes) - usually lasts less than 24 hours. ANGIO-OEDMEA --> Sudden pronounced swelling of the subdermis/mucous membranes (painful - affecting the face - eye lids, lips, upper airway, genitals) == associated with urticaria in 40% of cases Tx (Without angio-oedema causing airway obstruction) First line - Antihistamine (non-sedating) e.g. Loratadine, cetirizine Prednisolone used for severe episodes If angio-oedema causing airway obstruction - Adrenaline and airway protection - IV antihistamine - Prednisolone

Answer 59

Pathology - Most common in children -> food related with an IgE mediated immune response Other causes: Drugs, insect stings, latex, exercise Sx - The sudden onset and rapid progression of symptoms (ABC) Airway - swelling of the throat and tongue Breathing - Wheeze, dyspnoea Circulation - hypotension, tachycardia Pruritus Widespread urticarial rash

Answer 60

Respiratory and/or cardiovascular problems persisting despite 2 doses of IM adrenaline. - IV adrenaline infusion - IV fluids given for shock

Answer 61

RF - Asian (japanese, korean), 3 months-4 years, male Pathology - Second most common vasculitis in children (after IgA vasculitis) Sx - High grade fever lasting >5 days (resistant to antipyretics) - Conjunctival injection (red eye) - Bright red, cracked lips - Strawberry tongue - Cervical lymphadenopathy - Red palms of the hands (and soles of the feet) - Extremely irritable

Answer 62

RF - no prior immunisation against measles Pathology - Highly infectious viral disease - Spread by aerosol transmission (Infective till 4 days after rash starts - incubation period of 10-14 days) It infects epithelial cells of the nose and conjunctivae (multiplying in these cells then spreading to the lymph nodes) Sx - Prodrome --> Irritable, conjunctivitis, fever - Koplik spots - white spots in the mouth - Maculopapular rash starting behind the ears then spreads to the whole body - Cough Can lead to death, PNEUMONIA, OTITIS MEDIA (mc)

Answer 63

Pathology - Caused by primary infection with varicella zoster virus - Shingles is a reactivation of the dormant virus (herpes zoster) - Highly infectious via respiratory route (incubation - 10-21 days) Sx - Initial fever (BEFORE RASH BEGINS) - Itchy rash starting on the head/trunk before spreading. Macular --> papular --> vesicular rash (progressive) - Is a risk factor for group a strep infections e.g. necrotising fasciitis Tx Supportive - Trimming nails (so scratching is less severe) - Calamine lotion - Immunocompromised patients - give IV aciclovir - School exclusion - till all the lesions are dry and have crusted over (5 days after onset of rash) DO NOT GIVE NSAIDS - increased risk of necrotising fasciitis

Answer 64

RF - Incomplete immunisation, international travel, exposure to infectious contacts, (winter/spring time) Pathology Spread via airborne (Togavirus) Incubation period - 15-20 days Sx - Prodrome e.g. low grade fever - Maculopapular rash initially on face before spreading to the whole body (fading by day 3-5) - Lymphadenopathy - suboccipital and post auricular - (Arthritis, conjunctivitis, malaise, arthralgia) Self limiting condition - symptomatic therapy

Answer 65

RF - Unvaccinated individuals, exposure to an infected person, travel to endemic areas, (typically <15 or >25 years) Pathology - An URTI - causes by exotoxin from Corynebacterium diphtheriae (which inhibits protein synthesis and can cause necrosis of tissue) Sx - Sorethroat - (with grey membrane on posterior pharyngeal wall) - Fever - Cervical lymphadenopathy (bull neck) - Disease progression to dyspnoea and dysphagia - Heart block and neuritis e.g cranial nerves

Answer 66

RF - Peak 2-3 (<5 years), weak immune system, chronic kidney disease Pathology (rare) Though to be due to a consequence of an immature immune system (lack of protective antibodies) and renal clearance system (reduced toxin clearance) -- Caused by exfoliative staphylococcal toxin which causes loss/separation of the epidermal layer. Sx - Fever - Irritability - Fluid filled blisters that break easily - Redness of the skin - Positive Nikolsky sign (no mucous membrane involvement which distinguishes it from toxic epidermal necrolysis) Investigation - Blood cultures - Skin biopsy Tx - Fluid balance and IV flucloxacillin

Answer 67

RF - Unvaccinated individuals, close contact with infected person Pathology - Caused by the (gram-negative) bacteria --> Bordetella pertussis (New born infants are particular vulnerable - can present with apnoea and cyanosis) Sx 1) Catarrhal phase - A week of coryzal symptoms then 2) Paroxysmal phase - cough increases in severity, cough worse at night (may be ended by vomiting), inspiratory whoop Infants - would have spells of apnoea rather than a inspiratory whoop 3) Convalescent phase - cough subsides over weeks to months Bouts of cough that can lead to turning red Complications (Coughing can lead to subconjunctival haemorrhage and anoxia leading to syncope/seizures,) Bronchiectasis, pneumonia Tx Clarithromycin/Azithromycin

Answer 68

RF - lack of vaccination, poverty, poor sanitation Pathology - An enterovirus (transmission by faecal-oral route) Sx Most cases are asymptomatic Few have - Fever, headache, malaise - Decreased reflexes, tone and motor function of affected limb (muscle atrophy of affected limb)

Answer 69

- More common in low socio-economic areas e.g. India, pakistan, bangladesh and africa - Caused by mycobacterium tuberculosis (via airborne spread) - Can remain dormant in lungs - Can form Ghon Focus that can form Ghon complex (spread to nearby lymph node) Sx - - Night sweats - Weight loss - Productive cough - Pleuritic chest pain - Malaise, lethargy

Answer 70

RF - Sub-saharan africa Pathology Main route - vertical transmission - during pregnancy, at delivery or through breast feeding. (Also spread via blood) Sx (some may be asymptomatic) - Lymphadenopathy - Recurrent infections and fever - Hepatosplenomegaly - Parotid swelling (In AIDS - opportunistic infections like PCP pneumonia, severe failure to thrive, encephalopathy)

Answer 71

Neonatal - 3 months - Group B strep - Listeria monocytogenes 1 month - 6 years - N.meningitidis - S.pneumoniae - H.influenzae Tx For children <3 months - IV Amoxicillin + IV cefotaxime/ceftriaxone (covering for listeria) >3 years - IV ceftriaxone

Answer 72

RF - Immunosuppression, <10 years, close contact with infected people Pathology - Viral infection commonly caused by coxsackievirus (and enterovirus) - Very contagious Symptoms - Oral ulcers - Sore throat - Vesicles/rash on the palms and soles of the feet - Low grade fever Mostly clinical diagnosis Tx - Self limiting Symptomatic treatment - Analgesia and hydration

Answer 73

RF -<2 years, immunosuppression Pathology Exanthum = widespread rash Subitum = sudden Caused by human herpes virus 6 (sometimes 7) Sx - Initial high fever for a few days then: - Maculopapular rash - Nagayama spots (rash on uvula and soft palate) - Diarrhoea, cough Most common complication = Febrile convulsions (rarely they cause meningitis or hepatitis) -- Mostly clinical diagnosis (otherwise HHV6/7 specific IgG levels - high) Tx Symptomatic treatment - Analgesics and hydration

Answer 74

RF - close contact with infected individual, eczema, immunocompromise, 1-4 years Pathology - A skin condition caused by the molluscum contagiosum virus (a poxvirus) Sx - Pearl (pink/white) papules with a central umbilication (In children seen on the trunk and flexure regions) - they do not appear on hands and feet - Surrounding erythema and pruritus (Sx worse in people with HIV) Clinical diagnosis Tx - Self-limiting (but explain that lesions are contagious - avoid sharing towels/clothes) - Treatment not recommended (if needed cryotherapy or topical antibacterial or topical hydrocortisone - itching)

Answer 75

RF - 6-10 years, close contact with infected individuals Pathology Caused by Parvovirus B19 (DNA virus) Sx - Mild fever, headache and malaise followed by rash that makes the cheeks appear bright red (which usually peaks after a week then fades) - maculopapular rash can spread to trunk and limbs) - for some months following this, a warm bath, sunlight, heat/fever will trigger recurrence of the red cheeks and rash. (children are not infectious once the rash appears) Parvovirus suppresses erythropoiesis for 1 week so can cause an aplastic crises in patients with sickle cell disease.--> severe anaemia Hydrops fetalis - Parvovirus B19 can cross the placenta in pregnant women --> causing severe anaemia due to viral suppression of fetal erythropoiesis --> can lead to death Clinical diagnosis (Decreased RBC and reticulocyte count,,, Positive IgM antibodies for parvovirus B19) Tx Supportive treatment - paracetamol

Answer 76

RF - Increased humidity/warm weather, poor hygiene, over crowding, malnutrition Pathology - Superficial, contagious, blistering infection (on the face, flexures and limbs) caused by S.aureus and s.pyogenes - Can be non-bullous or bullous (fluid filled lesions >0.5cm in diameter) - Can present as a complication of existing skin conditions e.g. eczema, scabies - Spread via direct contact Sx - Golden, crusted skin lesions usually around the mouth - Vesicles/bullae (bullous can be around 2cm in diameter) (Erythematous base of the lesion) Investigations - Bacterial skin culture - Positive for S.aureus, S.pyogenes Tx Mild cases - hydrogen peroxide 1% cream (not systemically unwell) OR topical antibiotics e.g. fusidic acid (mupirocin) Severe cases - Oral flucloxacillin Should be excluded from school (till lesions are crusted/48 hours after commencing antibiotic treatment)

Answer 77

Can present as a napkin rash. - Most commonly occurs if nappies are not changed frequently enough or if the infant has diarrhoea. Sx - Erythematous rash --> THAT INCLUDES THE FLEXURES (which are usually spared in non candida cases) - Satellite lesions - raised, red, bumpy, scaly lesions - can be itchy and painful to touch Tx - Clotrimazole

Answer 78

RF - Diabetes, alcohol use disorder, surgical procedures (vaginal delivery/c-section, hysterectomy), prolonged use of tampon Pathology A severe systemic reaction to staphylococcal or group A strep exotoxins (discovered through infected tampons) Sx - Severe pain in an extremity - Fever >38.9 - Localised swelling/erythema - Hypotension systolic <90mmHg - Macular rash and peeling skin (especially palms and soles (Involvement of 3 or more organ systems e.g. GI - nausea and vomiting, mucous membrane erythema, renal failure, hepatitis, CNS involvement Investigations - Surgical debridement of infected areas and microscopy and culture = positive for S.aureus or group A strep Tx - IV ceftriaxone and clindamycin - IV fluids - Surgical debridement (as mentioned)

Answer 79

RF - 2-6years, Group A strep pharyngitis, close contact with infected person, winter/spring Pathology - Spread via respiratory route - inhalation/ (sneezing, coughing) - Reaction to erythrogenic toxins produced by group A strep (s.pyogenes) Sx - Fever - (lasts 24-48 hours) - Malaise, headache - N+V - Sore throat - Strawberry tongue - Tonsilitis - Sandpaper texture rash which first appears on torso then may spread to limbs (more obvious in flexures) - (desquamation can occur later on - around fingers and toes) --> rash is palm and sole sparing

Answer 80

- Otitis media (most common) - Rheumatic fever - Acute glomerulonephritis - Invasive complications - bacteraemia, meningitis, necrotising fasciitis (rare)

Answer 81

RF - Inadequate maternal folate and B12 intake - Previous pregnancy affected by spina bifida or other neural tube defect - Edward and patau syndrome - Maternal obesity and diabetes Pathology A neural tube defect - Spine and spinal cord don't develop properly. non fusion of the vertebral arches during development Examples: Myelomeningocele - most severe (herniation of meninges and spine), spina bifida occulta, meningocele Sx - Paralysis and sensory loss in the legs - Neurogenic bowel and bladder - dysfunction - Chiari 2 malformation which leads to hydrocephalus (associated with nonverbal learning disability) - Bulging fontanelle/rapid head growth (indicative of hydrocephalus) Investigations (not too important) - Prenatal ultrasound and triple test (Alpha fetoprotein, human chorionic gonadotrophins and unconjugated estriol) Tx - Neurosurgical repair of the defect (in open spina bifida) - Chiari decompression surgery - Ventriculoperitoneal shunt - in hydrocephalus - Oxybutynin for neurogenic bladder

Answer 82

RF - Family history, males, low birth weight, epilepsy, 3-7 years Pathology A neurodevelopmental disorder characterised by persistent inattention, hyperactivity and impulsivity Sx - Inattention (does not follow through on instructions, easily distracted, does not seem to listen when spoken to, difficult to sustain tasks) - Hyperactive/impulsive (unable to play quietly, talks excessively and often interrupts others, often 'on the go' Clinical diagnosis Tx First line - Psychoeducation - the patient and family are educated about symptoms and typical course If symptoms persist - referral to local child and adolescent mental health service (CAMHS) Last line - drug treatment - Methylphenidate (6 week trial basis - with monitoring of height and weight every 6 months - can cause stunted growth) (Or lisdexamfetamine)

Answer 83

RF - Males, family history, gestational valproate exposure Pathology Neurodevelopmental condition characterised by qualitative impairment in social interaction and communication - Apparent by 3 years old Sx - Language developmental delay - Communication impairment - don't interact with parents e.g. (index finger pointing/peek-a-boo games) - Social impairment - frequently plays alone and uninterested in being with other children, poor eye contact - Stereotyped/repetitive motor mannerisms --> e.g. hand flapping, rocking back and forth - Must follow a routine e.g. insists on eating same food everyday, taking exact same route to school, arranging objects in a specific way. - Bigger head circumference (ADHD and epilepsy are commonly seen) Investigations - Autism spectrum disorder screening tests e.g. childhood autism screening test (CAST), childhood autism rating scale (CARS). Tx Non pharmacological - Educational and behavioural interventions - Early start denver model - based on ABA, Applied behavioural analysis (ABA), ASD preschool program - Family support and counselling Pharmacological - SSRIs/antipsychotics - reduce anxiety and aggression - Methylphenidate for ADHD

Answer 84

RF - Female, 15-19 years Pathology An eating disorder characterised by restriction of caloric intake relative to requirements leading to low body weight. Sx - Low body weight - Fear of gaining weight or becoming fat - Disturbed body image - denial of the seriousness of the current low body weight. (Possible amenorrhea) Investigations - DSM 5 criteria (of symptoms mentioned) (Physical examination may find - muscle wasting, bradycardia, poor peripheral perfusion) Tx First line - anorexia focused family therapy (in children) Second line - Cognitive behavioural therapy (first line in adults) Investigations - DSM 5 criteria

Answer 85

RF - Females, personality disorders, history of sexual abuse, family history of alcoholism (seen in 20-35 years) Pathology An eating disorder characterised by recurrent episodes of binge eating ( a lack of control over eating), followed by behaviours aimed at compensating for the binge --> including self-induced vomiting, fasting, laxatives, diuretics, etc (occurring at least weekly for 3 months) Sx - Recurrent episodes of binge eating + recurrent inappropriate compensatory behaviour - Depression and low esteem - Parotid hypertrophy - Russell sign - scarring over the dorsum of the hands - resulting from pressing fingers against the teeth that was inserted into the mouth to induce vomiting - Erosion of teeth Investigations DSM 5 diagnostic criteria Tx - Referral for specialist care - Bulimia nervosa focused family therapy (First line in children) Bulimia nervosa focused guided self help (adults) or CBT (second line)

Answer 86

RF - Family history, prematurity, low birth weight Pathology - When one or both testes fail to reach the bottom of the scrotum by 3 months of age - Males with undescended testos are 40 times as likely to develop testicular cancer. (thus treatment is required) (Differential of retractile testis - testis can be brought into the scrotum by the clinician and when released remains in the scrotum) Sx - Malpositioned/absent testis - Unable to be manipulated into the scrotum - or immediately returns to a high position after being manipulated into the scrotum (Clinical diagnosis) (ultrasound/MRI) Tx Surgery - orchidopexy (If testis is non functional - with sertoli cells degrading after 2-3 years old - orchidectomy may be better)

Answer 87

RF - <25 years, neonate, bell clapper deformity, trauma/exercise Pathological - A twisting of the testicle on the spermatic cord leading to constriction of the vascular supply, time-sensitive ischemia and possible necrosis of testicular tissue Sx - Sudden onset scrotal pain - N+V - Possible lower abdominal pain - Negative Prehn's sign and absent cremasteric reflex - Swollen, tender testis that is retracted upwards Clinical diagnosis Tx - Urgent surgical exploration (fix both testes - bell clapper deformity is usually bilateral)

Answer 88

The development of secondary sexual characteristics before 8 years in females and 9 years in males (with a higher risk in females) RF - McCune Albright syndrome, females, brain tumour, adrenal hyperplasia, gonadal tumours Pathology 1) Gonadotrophin dependent (Central) - due to premature activation of hypothalamic pituitary gonadal axis (increased FSH and LH) 2) Gonadotrophin independent - due to excess sex hormones - androgen and estrogen (FSH and LH low) Sx Males usually have an underlying cause unlike in females which might be idiopathic - Bilateral testes enlargement - gonadotrophin release from intracranial lesion - Unilateral testicular enlargement - gonadal tumour - Small testes - adrenal pathology (tumour/hyperplasia) (cafe au lait spots in McCune Albright syndrome) - Tall stature (Girls: breast development first, pubic/axillary hair should not occur before breast development/testicular enlargement - premature adrenarche, menarche 2-3 years after breast development) Investigations - Tanner staging (CT/MRI Brain/Adrenal glands, GnRH+FSH+LH) Tx - Management of underlying cause if there is one (e.g. brain neoplasms) - Gonadotrophin releasing hormone agonist (continuous exposure would suppress puberty - pubertal progression is triggered by pulsatile exposure) --> Leuprolide/triptorelin

Answer 89

RF - Family history of delayed puberty, congenital pituitary structural abnormalities, chromosomal disorders Pathology The lack of specific pubertal signs - breast budding in girls and a testicular volume of 4ml or more in boys by the age of 13 years in girls and 14 years in boys. Can occur due to - Lack of serum gonadotropin production or action (hypogonadotrophic hypogonadism - problem with pituitary/hypothalamus) or gonadal insufficency (hypergonadotrophic hypogonadism - where the sex organs produce insufficient hormones - acquired gonadal damage - post surgery, chemotherapy --- chromosomal abnormalities e.g. klinefelter and turner syndrome Sx - Absent breast development by 13 - Testes < 4 ml by 14 - Absent axillary/pubic hair - Absence of menarche >3 years from breast budding - Short stature - Anosmia (Kallmann's syndrome) Investigations - Tanner staging - Measurement of testicular size - LH, FSH, Tx Observation and monitoring first If severe delay/abnormalities Boys - Testosterone Girls - Estradiol (estrogen)

Answer 90

A delayed puberty secondary to hypogonadotropic hypogonadism. Pathology - X-linked recessive trait - More common in males Sx - Delayed puberty - Cryptorchidism - ANOSMIA (Cleft lip, visual/hearing defects are seen in some patients) (sperm count will be low) Investigations - LH and FSH levels are low ((GNRH low)) Tx - Testosterone supplementation

Answer 91

Pathology - A family of inherited enzyme deficiencies that impair normal corticosteroid synthesis in the adrenal cortex - (Most common enzyme deficiency - 21 hydroxylase) - Decreased cortisol production leads to compensatory overproduction of ACTH by the anterior pituitary which increases the production of adrenal androgens (can lead to virilisation in females) Sx - Virilization - female infants present with ambiguous genitalia - Precocious (early) puberty - small testes and no/late breast development - Salt wasting crisis -- dehydration, hypotension and electrolyte imbalance --> too little aldosterone being produced - Infertility - Short stature

Answer 92

Pathology (Testicular feminisation syndrome) - X linked recessive - End organ resistance to testosterone -- leading to genotypically male children to have a female phenotype Sx (Essentially genetically male but raised as females - male genitalia) - Primary amenorrhoea - Little or no axillary and pubic hair - Undescended testes - Breast development (Investigations - testosterone concentrations are elevated) Tx - Counselling - raise the child as female - Bilateral orchidectomy - as increased risk of testicular cancer in undescended testes - Oestrogen therapy

Answer 93

Most common cause of obesity in childhood is lifestyle factors RF - Asian, females, tall stature Causes - Growth hormone deficiency - GH stimulates fat break down - Hypothyroidism - Down's syndrome - Cushing's syndrome - Prader Willi syndrome Complications - Orthopaedic problems (e.g. slipped femoral epiphyses) - Psychological consequences - Sleep apnoea - Benign intracranial hypertension Long term - increased risk of T2DM, hypertension and ischemic heart disease Tx - stepwise approach First - lifestyle changes - diet, exercise Second - medication - orlistat (pancreatic lipase inhibitor), liraglutide (GLP-1 mimetic - used for treating T2DM also) Third - Surgical

Answer 94

RF - Puberty (10-15 years), obesity, hypothyroidism, males Pathology - Displacement of femoral head epiphysis postero-inferiorly - can present following trauma or just chronically Sx - Weight >90th percentile (childhood obesity) - Gait with affected leg externally rotated (loss of internal rotation in leg flexion) - Trendelenburg gait - child leans trunk to affected side - Groin/knee/hip pain

Answer 95

A) Impaired RBC production (low reticulocytes) 1) RBC aplasia - bone marrow disorder e.g. fanconi anaemia, aplastic anaemia, (parvovirus B19 infection - suppresses erythropoiesis) 2) Ineffective erythropoiesis - Folic acid/iron deficiency - Chronic inflammation (juvenile idiopathic arthritis) B) Increased haemolysis (increased reticulocytes - to compensate for anaemia) 1) RBC membrane disorder - Hereditary spherocytosis 2) RBC enzyme disorder - G6PD deficiency 3) Haemoglobinopathies - Thalassemia, sickle cell disease 4) Immune - haemolytic disease of the newborn, autoimmune haemolytic anaemia C) Blood loss - GI blood loss - Meckel's diverticulum - Inherited bleeding disorders - Von Willebrand disease, haemophilia

Answer 96

1) Iron deficiency anaemia (most common microcytic anaemia) - Iron loss through GI bleed, menorrhagia, increased need in pregnancy, malabsorption, decreased dietary intake 2) Thalassemia - haemaglobinopathy 3) Sickle cell anaemia - (Causes vaso-occlusion of vessels to bone, lungs and vessels leading away from the spleen) General symptoms - Fatigue - Pallor - Exertional dyspnoea - (Glossitis, angular stomatitis) - iron deficiency - Chipmunk facies - misaligned teeth, enlarged forehead and cheek bones (thalassemia) - Jaundice, bone pain, visual floaters - sickle cell (Blood transfusion and iron chelation therapy) - Hydroxicarbamide increases HbF (HbF doesn't sickle and can partially compensate for lack of normal haemoglobin)

Answer 97

Commonest RBC enzymopathy. - Red cells lacking G6PD are susceptible to oxidant induced haemolysis - X linked - RF - Males, neonates, family history, (Africa, asia, middle east) Sx Can cause neonatal jaundice usually in the first 3 days of life (most common cause of severe neonatal jaundice) - Fever, dark urine Acute haemolysis is precipitated by infection, fava beans, etc. (thus, just avoid precipitants) - blood tranfusion if rapid anaemia and jaundice

Answer 98

Pathology - Most common form is Rhesus disease (mother's blood group is Rhesus negative and the baby's is Rhesus positive) -- leads to mother's immune system producing antibodies which can cross the placenta into the baby's circulation, causing haemolysis of RBC. - (D antigen = Rhesus factor) Prevention - Test for D antibodies in all Rh negative mothers - Can give anti-D prophylaxis to non sensitised Rh negative mothers - that coat the fetal cells an doesn't trigger the immune system when the rhesus positive fetal cells enter the mother's bloodstream

Answer 99

Immune mediated - Rhesus disease Non-immune mediated - G6PD deficiency and hereditary spherocytosis

Answer 100

A X-linked inherited bleeding disorder RF - Males, family history, (may be acquires if >60 years + have autoimmune disorder) Pathology Factors 8 and 9 are used in the intrinsic pathway of the coagulation cascade --> deficiency means increased clotting time and formation of an unstable clot that can dislodge. Sx (Neonates can present with intracranial haemorrhage, bleeding post-circumcision or prolonged oozing from heel prick test and venepuncture sites) (Children present towards the end of the first year of life when they start to crawl/walk and fall over) - HAEMARTHROSES - MSK bleeding, bleeding into joint cavity (can lead to crippling arthritis if not treated) - Spontaneous, easy and excessive bruising Investigations - Prolonged APTT (normal PT) - Coagulation factors 8 and 9 assay Tx Haemophilia A - IV factor 8 (desmopressin can be given to stimulate endogenous release of F8 and von willebrand factor) Haemophilia B - IV factor 9

Answer 101

RF - Positive family history, consanguineous relationships, aortic stenosis Pathology - The most common inherited bleeding disorder (due to either a quantitative or qualitative abnormality of VWF) - Autosomal dominant (most commonly Type 1 - partial reduction in VWF) - VWF provides the link between platelets and the exposed vascular subendothelium and acts as a carrier protein for F8. Sx - Excessive and prolonged bleeding (after surgery) - Mucosal bleeding e.g. epistaxis, bleeding gums and menorrhagia Investigations - Normal PT with possible prolonged APTT (If F8 activity affected( - Normal F8 and 9 assay (eliminates haemophilia) - Decreased VWF antigen Tx - Desmopressin (given to stimulate endogenous release of F8 and von willebrand factor) - Tranexamic acid for mild bleeding - F8 concentrate if needed

Answer 102

RF - <5 years, >65 years, (also women of childbearing age) Pathology - Low platelet count secondary to an autoimmune phenomenon - Type 2 hypersensitivity - antiplatelet antibodies Sx - Onset 1-2 weeks after a viral infection - Bruising - Petechial/purpuric rash - (possible epistaxis and bleeding gums but profuse bleeding is uncommon) Investigations FBC - low platelet count Bone marrow biopsy - increased megakaryocytes (compensatory mechanism) Tx - Mostly self limiting (no treatment if no signs of bleeding) - In major/persistent bleeding --> oral prednisolone, IVIG or platelet transfusion

Answer 103

Acute lymphoblastic leukaemia RF - <5 years, family history, males Pathology - The most common malignancy affecting children - Lymphoid progenitor cell becomes genetically altered, undergoing uncontrolled proliferation - leading to immature cells replacing normal haematopoietic cells of the bone marrow. Sx - Anaemia - lethargy and pallor - Neutropenia - recurrent infections - Thrombocytopenia - bruising, petechiae - Hepatosplenomegaly - bone pain (Fever) Investigations 1st line - FBC - pancytopenia GS - BM aspiration and biopsy >20% lymphoblasts Tx Chemotherapy (possible allopurinol)

Answer 104

Astrocytoma followed by medulloblastoma (Diagnosed with MRI) First treatment is aimed at treating hydrocephalus. Next treatment - chemotherapy/radiotherapy in dealing with the tumour itself.

Answer 105

RF - Family history Pathology (onset around 1-2 years old) - A malignant tumour arising from neural crest tissue in the adrenal medulla and sympathetic nervous system. --> most commonly arises from the adrenal glands - Neuroblastoma is the most common neuroblastic tumour. Sx - Abdominal mass - Pallor - Weight loss - Bone pain, limp - Hepatomegaly (rarely paraplegia, periorbital ecchymosis) Investigations - First line - Urinary catecholamines (homovanillic acid and vanillymandelic acid) --> raised - GS - tumour biopsy Tx - Non metastatic low risk disease - Surgery - Metastatic intermediate/high risk disease - chemotherapy with/without surgery

Answer 106

RF - <5 years, family history Pathology - Most common renal malignancy in childhood, usually occurring in the first 5 years of life - Metastasises early, most commonly to the lungs Sx - Upper abdominal mass - Flank pain/abdominal pain - Painless haematuria - Possible fever Investigations First line - Abdominal ultrasound/CT/MRI - Intrinsic renal mass GS - Tumour biopsy (or histology following surgical resection) Tx - Chemotherapy and nephrectomy (Radiotherapy only in advanced disease)

Answer 107

RF - Mutation in RB gene (chromosome 13), HPV exposure, advanced paternal age Pathology - Most common intraocular tumour in children. PRESENTS IN FIRST 3 YEARS - Autosomal dominant Sx - White pupillary reflex (replacing the red-reflex) - Strabismus/squint - Visual problems Investigations - Fundoscopy and examination under anaesthesia - white/grey retinal mass Tx - Systemic chemotherapy (shrink the tumour) + laser ablation - if globe salvaging procedures are suitable. - Enucleation (removal of the eye) - in advanced cases

Answer 108

- Osteochondroma - Most common benign bone tumour (males <20) --> cartilage capped bony projection on the external surface of a bone - Osteoma - benign overgrowth of bone (usually on the skull) - Giant cell tumour - 20-40years old, multinucleated giant cells(fibrous) in the epiphyses of long bones. (soap bubble appearance on x-ray)

Answer 109

Osteosarcoma - most common primary malignant bone tumour (seen in children and adolescents) - occurs in long bone prior to epiphyseal closure. ---- X-ray shows sunburst pattern Ewing's sarcoma - Seen mainly in children and adolescents - in the pelvis and long bone (causing severe pain) --> Onion skin appearance on x-ray Chondrosarcoma - malignant tumour of cartilage affecting the axial skeleton -- seen in middle aged people

Answer 110

Hepatoblastoma - malignant liver cancer that affects babies aged 1-3. RF - Premature birth, low birth weight, biliary atresia, Sx (most commonly presents with just mass/distention) - Persistent nausea and vomiting - Painful lump in URQ of abdomen - Jaundice (rare) - Unexplained weight loss Investigations - Raised serum alpha fetoprotein Tx - Chemotherapy - Surgery

Answer 111

RF - increased maternal age, affects 1 in 660 boys Pathology - Presence of an extra X chromosome e.g. 47 XXY karyotype Sx - Tall stature - Gynaecomastia - Small testes - Infertile - (Lack of secondary sexual characteristics - due to failure to complete pubertal maturation) -- lack of facial/pubic hair (Possible educational/psychological problems) Investigations - Karyotyping - Elevated gonadotrophin levels but low testosterone

Answer 112

No known RF Pathology - Presence of only one sex chromosome - X e.g. 45, X (or possible deletion of the short arm of one of the X chromosomes) - Common abnormalities include aortic coarctation and bicuspid aortic valves --> can lead to aortic dissection - Common associations - hypothyroidism and horseshoe kidney Sx - Short stature - Primary amenorrhoea - Skeletal abnormalities - webbed neck, short 4th metacarpal - Melanocytic naevi - Widely spaced nipples - Delayed puberty - Ejection systolic murmur (Bicuspid aortic valve) (recurrent otitis media) Investigations - Karyotyping - Elevated gonadotropin levels

Answer 113

More common in females Pathology - Trisomy 18 Sx - Micrognathia - small mouth and chin (can cause sleep apnoea) - Low set ears - Rocker bottom feet (round - opposite to flat feet) - Flexed overlapping of fingers (Can cause issues with the heart, kidney or spine)

Answer 114

Pathology - Trisomy 13 Sx - Microcephalic - Small eyes (possibly even missing eyes) - Cleft lip/palate - Polydactyly (extra fingers/toes) - Scalp defects (cardiac/renal malformation)

Answer 115

Pathology - Trinucleotide repeat disorder (CGG on FMR1 gene) (Inherited as x-linked inherited disorder) (commonest familial form of learning difficulties and the second most common genetic cause of severe learning difficulties - after down syndrome) Sx (in males) - Learning difficulties - Large low set earns, long face, broad forehead and prominent mandible, high arched palate - Large testes - Hypotonia - (Associated with autism and mitral valve prolapse) There may be no/mild symptoms in females Investigations - Molecular analysis of CGG trinucleotide repeat (Diagnosis can be made antenatally through amniocentesis or chronic villus sampling)

Answer 116

RF - Family history, males Pathology X linked recessive inherited disorder in the dystrophin genes Sx - Progressive proximal muscle weakness (from 5 years) - Calf psuedohypertrophy --> replacement of muscle fibres by fat - Gower's sign - (Possible intellectual impairment, waddling gait) Investigations - Raised CK - Genetic testing (Becker's progresses more slowly and symptoms are less severe and later onset - 11 years (unable to walk in late 20s)

Answer 117

RF - Family history, advanced paternal age Pathology - Thought to be a male version of Turner's - Autosomal dominant Sx - Features of Turner's --> webbed neck, widely spaced nipples, short stature - Triangular shaped face - Low set ears - Ptosis - Chest deformities - Cryptorchidism, delayed puberty - Easy bruising and bleeding (pulmonary stenosis, ASD, factor XI deficiency) - Do echo and ECG

Answer 118

Pathology - An inherited neurodevelopmental disorder caused by microdeletion on chromosome 7 Sx - Elf-like facies - Short stature - Learning difficulties - Very friendly and social - Transient neonatal hypercalcemia (May have supravalvular aortic stenosis) Investigation - Fluorescent in situ hybridization (FISH) analysis - diagnostic (a type of genetic testing)

Answer 119

Pathology - Neurological disorder due to absence of maternal chromosome 15 (2 paternal ones) Sx - Intellectual disability - Small head - Happy demeanour with frequent laughter, smiling and excitability - Wide jaw with spaced out teeth - Seizures - Ataxia

Answer 120

RF - Older maternal age, sibling with PWS Pathology - Genetically inherited neurological disorder caused by the absence of expression of a paternally inherited imprinted gene on chromosome 15. (15q11-13) .. Most common genetic cause of life-threatening obesity - If this occurs on the maternal chromosome 15 - it leads to angelman syndrome (so they have 2 paternal chromosomes) Sx - Hypotonia during infancy (poor suck, feeding difficulties - Dysmorphic features - Short stature - Childhood obesity (At 2 years they gain weight without a change in calories and at 5 years they have increased interest in food - hyperphagia at 9 years) - (learning difficulties and behavioural problems) - Hypogonadism and infertility

Answer 121

RF - Family history Pathology - Group of disorders of type 1 collagen resulting in bone fragility (and fractures) - Autosomal dominant inheritance - Also known as brittle bone disease Sx Presents in childhood - Recurrent fragility fractures --> could be in utero or during newborn/infantile periods - Fractures following minimal trauma - Blue sclera - Joint hypermobility and laxity - Short stature - Dental imperfections - Hearing loss secondary to otosclerosis - Bone deformities Investigations - DEXA scan - X-ray - checking for fractures and bone changes - Audiology - checking for hearing loss Tx - Lifestyle changes - avoid smoking and excess alcohol consumption - Bisphosphonate - Analgesia

Answer 122

RF - 6-23 months, inadequate sunlight exposure, prolonged breastfeeding, darker skin complexion Pathology (known as osteomalacia in adults) - Inadequate mineralised bone in developing and growing bone --> resulting in soft and easily deformed bones. - Usually due to vitamin D deficiency Sx - Aching bones and joints - Rickety rosary --> swelling at the costochondral junction - Developmental delays - Failure to thrive - Bow legs, knock knees - Harrison sulcus (Soft skull bones early in life - delayed closure of anterior fontanelle) May have sx of hypocalcemia Investigation (X-ray --> Widening of joints) - Serum vitamin D - low - Serum calcium - low - Raised alkaline phosphatase Tx (improve vitamin D intake) - Oral calcium and vitamin D supplements (colecalciferol)

Answer 123

RF- 3-12 years, males, recent viral infection Pathology - A self limiting inflammatory disorder of the hip commonly affecting young children - Commonest cause of hip pain in children (major differential of septic arthritis) Sx - Acute hip/groin pain following a recent viral infection (with passive movement and on palpation) - no pain at rest. - Limp - Possible low grade fever (high fever might be indicative of septic arthritis) - At rest, hip is abducted and externally rotated (investigations not really required although CRP and ESR may be slightly elevated) Tx Self limiting - Rest and analgesia (Rarely it precedes the development of Perthes disease)

Answer 124

RF - 4-8 years, males Pathology - A degenerative condition affecting the hip joints of children. - It occurs due to avascular necrosis of the femoral head (epiphysis) -- impaired blood supply to the femoral head causes bone infarction Sx - Hip pain that is progressively worse over a few weeks - Limp - Stiffness and reduced range of hip movement Associated with short stature and hyperactivity (possible muscle wasting of the gluteal and quadriceps muscles)

Answer 125

RF - Males, children < 2 years Pathology - Most commonly affected joints are the hip, knee and ankle - The infection of 1 or more joints caused by pathogenic inoculation of microbes - Most commonly caused by S.aureus Sx - Swollen, red, severe joint pain (usually 1 large joint is affected) - Limp (and non weight bearing) - Fever - Malaise and lethargy

Answer 126

RF- Females, family history of autoimmune conditions, antibiotic exposure in childhood Pathology - Arthritis occurring in someone who is less than 16 years old that lasts for more than 6 weeks. - Pauciarticular JIA = 4 or less joints affects (60% of JIA cases) - Systemic JIA = Still's disease (Commonest chronic inflammatory joint disease in children in the UK) Sx - Joint pain and swelling: usually medium sized joints - knees, ankles, elbows - Joint stiffness after periods of rest e.g. long car rides (morning joint stiffness and pain) - Limp (May get early swan neck deformity) Systemic JIA sx - pyrexia, lymphadenopathy, uveitis, arthritis, weight loss, salmon pink rash (Still's disease) investigations - Relative clinical diagnosis (ESR, CRP, ANA may or may not be positive) Tx - Methotrexate (DMARD) - NSAIDS (possible prednisolone)

Answer 127

RF - Previous osteomyelitis, penetrating injury, IVDU, diabetes Pathology - Infection of bone most commonly S.aureus - Usually affecting the distal femur and proximal tibia (affects long bone and spine whereas septic arthritis is knee, hip and shoulder) - Haematogenous osteomyelitis (most common in children) - monomicrobial bacteremia--RF sickle cell anaemia, immunosuppression medication, IE - Non haematogenous osteomyelitis (most common in adults) - contiguous spread of infection from adjacent soft tissue to bone/trauma/injury to bone-- polymicrobial --diabetic foot ulcers, PAD In sickle cell anaemia patients - Salmonella species is the most likely cause Sx - Fever - Painful, immobile limb with swelling and extreme tenderness (especially on moving the limb) - Limp/reluctance to weight bear - Malaise, fatigue - Severe pain on moving limb - Back pain (indicates vertebral osteomyelitis - along with paravertebral muscle tenderness and spasm and limitation of spine movement)

Answer 128

RF - Twins, asians Pathology - Congenital and frequently bilateral (body of menisci is too wide) - Usually affects the lateral meniscus - Discoid meniscus = decreased collagen fibres which predisposes them to degradation Sx - Possible pain, stiffness or swelling - Locking a knee - Popping sensation of the knee - Pain on squatting/kneeling Investigation - X-ray - MRI Tx Supportive - Knee exercise and stretching - Physical therapy

Answer 129

RF - Adolescent males, high position of the patella, athletic participation Pathology - Osteochrondritis (inflammation) of the patellar tendon insertion at the knee - An overuse syndrome of the paediatric population. (usually affecting young athletes) (Self-limiting) Sx - Localised Pain, tenderness to palpation, warmth and swelling (inflammation) directly over the tibial tuberosity Investigations X-ray for imaging - may be normal but can show enlarged tibial tubercle Tx - Reduced physical activity and physiotherapy - NSAIDS - Knee splint for immobilising the joint

Answer 130

RF - Females, family history, breech presentation, first born child, oligohydramnios Pathology - A spectrum of conditions affecting the proximal femur and acetabulum (abnormal anatomical relationship). --> can lead to abnormal bony development that can result in premature arthritis and significant disability. Sx - May present with a Trendelenberg gait and leg length discrepancy - Discrepancy in skin crease behind right and left hips - Positive ortolani and barlow test - Limited hip abduction Investigation First line - Ultrasound IF INFANT IS >4.5 months then use X-ray as first line Requirements for a routine ultrasound examination - First degree family history of hip problems in early life - Breech presentation at or after 36 weeks gestation - Multiple pregnancy All infants are screened using the Barlow and Ortolani test Tx Most unstable hips will stabilise by 3-6 weeks of age - Pavlik harness in children < 4-5 months - Older children may require surgery

Answer 131

RF - Family history, <5 years, 10-14 years during growth spurt, females, Pathology - Lateral curve of the spine in the frontal plane --> a rotation of the vertebral bodies, causing a prominence in the back. - Can be idiopathic (during pubertal growth spurt), Congenital (spina bifida, hemivertebra) or Secondary (CP, neurofibromatosis, marfan syndrome) (in severe cases can lead to cardiorespiratory failure) Sx - Postural asymmetry - Absent/minimal pain - Absence of neurological symptoms (motor or sensory) Investigations == Clinical -- Scoliometer measurement >5 degrees at the paraspinal prominence - In more severe cases - X-ray (spinal curvature >10 degrees) Tx - Mild scoliosis resolves spontaneously, advice for regular exercise - More severe - Bracing (Surgery indicated only if very severe or there is risk of neuromuscular/respiratory disease)

Answer 132

RF - Breech delivery, Caeserean section, twin A (lower in utero) Pathology - Usually occurring in the first few weeks of life and resolving in 2-6 months. - A neck deformity involving shortening of the sternocleidomastoid muscle --> limited neck rotation and lateral flexion (thus presenting with head tilt to the affected side and rotation to the contralateral side) - Most commonly caused by a sternocleidomastoid tumour Sx - Head tilt to affected side - Head rotation to the contralateral side - Possible mass in the sternocleidomastoid - Possible ipsilateral shoulder elevation Investigations Cervical x-ray - rule out vertebral abnormalities Pelvic x-ray - rule out developmental dysplasia of the hip Tx Physiotherapy --> And home programme to incorporate stretching, strengthening and prone play

Answer 133

RF - <28 weeks gestation, males (more severe) Pathology Respiratory distress syndrome/surfactant deficiency lung disease - deficiency of surfactant (lowering surface tension) - The more preterm the infant, the higher the incidence of RDS - (common in infants born <28 weeks gestation) Neonatal RDS can affect babies not born prematurely - e.g. maternal diabetes, underweight baby, baby's lungs not developed properly Sx At delivery or within 4 hours of birth - develop signs: - Tachypnoea (>60 breaths/min) - Chest wall recession and nasal flaring - Expiratory grunting - Cyanosis in severe cases Investigation (Clinical signs) Chest x-ray - Low lung volumes, bilateral symmetrical granular opacities Pulse oximetry Tx - Ambient oxygen via nasal cannula - More severe - ventilator Surfactant therapy - surfactant is instilled directly into the lung via a tracheal tube. (usually steroid injection given before baby is delivered to reduce risk) (Can lead to pneumothorax, pulmonary/cerebral haemorrhage - hypoxia can lead to vasodilation of brain's fragile blood vessels and vasoconstriction of the pulmonary artery)

Answer 134

Infants who still have an oxygen requirement at a post menstrual age (gestational period + days after birth) of 36 weeks. - also known as chronic lung disease. RF - premature baby (premature baby's tiny air sacs are not mature enough to work as they should) --> Lung damage due to pressure and volume trauma from artificial ventilation, oxygen toxicity and infection. Investigation Chest x-ray --> Widespread areas of opacification, fibrosis and lung collapse. Pulse oximetry Treatment - Most infants are weaned onto CPAP (continuous positive airway pressure) followed by additional ambient oxygen. (Steroids- dexamethasone are always almost given in premature labour)

Answer 135

RF - Post term deliveries (high risk >42 weeks), maternal hypertension/diabetes, pre-eclampsia, chorioamnionitis, maternal smoking/substance abuse Respiratory distress in the newborn due to meconium in the trachea - occurs exclusively in the immediate neonatal period. Sx - Symptoms of respiratory distress (immediately after birth or hours later) = tachypnoea, chest wall asymmetry, cyanosis, grunting, chest wall recession Cyanosis occurs due to high pulmonary resistance leading to right-left shunting. Investigation FBC, CRP, blood cultures - for possible infection Pulse oximetry and ABG - hypoxaemia Tx - If respiration not established at birth, thick meconium aspirated by suctioning with a large bore catheter. (through larynx?) - CPAP ventilation (if doesn't work then mechanical ventilation) - IV antibiotics if infection present

Answer 136

When the baby's brain does not receive enough oxygen and/or blood flow around the time of birth. Also referred to as birth asphyxia Causes - Issues with blood flow to the placenta - Heart disease - Pre-eclampsia (high BP and signs of organ damage) - Uterine rupture - Cord entanglement or compression Sx - Hyperalert or reduced level of awareness - Floppy or stiff - Unusual movements or seizures - Weak cry - Pauses in breathing (apnoea)

Answer 137

A group of infectious diseases that can be passed from the mother to the baby during pregnancy, at delivery or after birth. (through the placenta, via vaginal birth, through breastmilk) T- Toxoplasmosis (parasite) - from undercooked meat/cat faeces O- Others - HIV, parvovirus B19, varicella R- Rubella (now vaccinated against so quite rare) C- Cytomegalovirus H- Herpes simplex virus (STI or direct contact) As the baby lacks immunity to fight off diseases - these can cause complications to the pregnancy or prevent the baby's organs from developing properly. Sx - Fever, malaise, trouble feeding - Jaundice - Low birth weight - Hearing impairment - Patent ductus arteriosus - Purpura - Hepatosplenomegaly - Microcephaly

Answer 138

RF - Males, maternal smoking, maternal age <20 years Pathology - Congenital defects of the anterior abdominal wall resulting in intestinal herniation from the abdominal cavity. (no sac covering the intestines) - there is a sac in an exomphalos Omphalocele - Defect of the umbilicus itself - whereas gastroschisis is a defect lateral to the umbilicus Sx - Abdominal contents may be free-floating in utero - DEFECT LATERAL TO THE UMBILICUS (WHEREAS omphalocele is of the umbilicus itself) Tx - Fluid resuscitation and temperature maintenance then transferred to theatre within 4 hours for surgical repair. - Bowel protection with a sterile covering (post surgical nasogastric tube for decompression and total parenteral nutrition) (Will most likely need to do a CAESAREAN SECTION) Complications - (related to ischemia of the exposed gut caused by constriction of mesenteric blood supply at the level of the abdominal wall defect) - Dehydration

Answer 139

RF - trisomy 18, trisomy 21, family history Pathology - Associated with tracheo-oesophageal fistula and polyhydramnios - Congenital malformations resulting from defective separation of the common embryologic precursors to both the oesophagus and trachea. - most common --> Blind ending upper oesophageal pouch with a fistulous connection between the distal oesophageal segment and the trachea Sx - Maternal history of polyhydramniosis (excess amniotic fluid around the fetus) If not diagnosed at birth, clinical presentations: - Persistent salivation and drooling from the mouth - Coughing and choking when fed - Cyanotic episodes (possible aspiration of saliva/milk from the upper airways) Further associated congenital malformations (VACTERL association) e.g. Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, Radial Limb) Investigation - Antenatal ultrasound - Polyhydramnios - Antenatal MRI - Oesophageal pouch - If suspected, a wide-calibre feeding tube is passed and checked by X-ray to see if it reaches the stomach. An inability to detect the stomach is suggestive of oesophageal atresia. Tx Suction catheter and surgical repair --> Continuous suction is applied to a tube passed into the oesophageal pouch to reduce aspiration of saliva and secretions pending transfer to a neonatal surgical unit.

Answer 140

SBO - Atresia or stenosis of the duodenum (1/3 have Down syndrome) - Atresia or stenosis of the jejunum/ileum - Malrotation with volvulus - Meconium ileus LBO - Hirschsprung disease - Rectal atresia

Answer 141

RF - BMI >30 , previous gestational diabetes, previous macrosomic baby (>4.5Kg), family history of DM Pathology - Hyperglycemia in pregnancy that is below the diagnostic thresholds for diabetes. - Complicates 1 in 20 pregnancies (2nd most common medical disorder complicating pregnancy after hypertension) Investigations - Oral glucose tolerance test usually performed at 24-28 weeks gestation in women with risk factors of GDM - Fasting glucose >/=5.6 - 2 hour glucose >/=7.8 Tx - If fasting plasma glucose is <7mmol/l a trial of diet and exercise should be offered for 1-2 weeks (unless evidence of hydramnios in which case you start insulin) - If glucose targets not met within 2 weeks - start metformin (or glibenclamide) - If glucose targets still not met - addition of SHORT ACTING INSULIN If fasting plasma glucose >/= 7mmol/l - Insulin should be started - Dietary advice (eating foods with low glycaemic index + exercise) Targets Fasting 5.3mmol/l 2 hours 6.4mmol/l

Answer 142

If a mother has Grave's disease, 1-2% of their newborn infants are hyperthyroid --> due to circulating thyroid stimulating antibodies that can cross the placenta and stimulate the fetal thyroid. Neonatal sx - Irritability - Tachycardia - Weight loss (low birth weight) - Exophthalmos - Diarrhoea - Heart failure Investigations - Fetal tachycardia on CTG (cardiotocography) - Fetal goitre on ultrasound Tx Carbimazole (otherwise propylthiouracil)

Answer 143

Normal term babies often have hypoglycemia within the first 24 hours of life (TRANSIENT HYPOGLYCEMIA IN THE FIRST HOURS AFTER BIRTH IS COMMON) - <2.6mmol/L However, persistent/severe hypoglycemia within the first 24 hours can be caused by: - Preterm birth (<37 weeks) - Maternal diabetes mellitus - Intrauterine growth restriction - Neonatal sepsis - Hypothermia Sx (May be asymptomatic) - Jitteriness, irritable, tachypnoea, pallor - Poor feeding, weak cry, hypotonia, seizures Investigations - Heel prick blood test/newborn blood spot test - <2.6mmol/L Tx Asymptomatic - Encourage normal feeding and monitor blood glucose Symptomatic/severe hypoglycemia - Admit to neonatal unit and give IV 10% dextrose (or IM glucagon)

Answer 144

RF - preterm, prolonged rupture of membranes, maternal fever during labour, maternal chorioamnionitis, previously infected infant 20-30% of pregnant women have faecal or vaginal carriage of group B strep. Can cause early and late onset sepsis. Early onset sepsis = Neonate has respiratory distress and pneumonia --> may cause septicaemia and meningitis Late onset disease (up to 3 months old) = meningitis Tx - Prophylactic benzylpenicillin given via IV (for women with RF)

Answer 145

Uncommon but serious --> passes from the mother to the fetus via the placenta (organism is transmitted to the mother via cheese, unpasteurised milk, undercooked poultry) Sx in the mother --> Influenza like illness Complications: Spontaneous abortion, preterm delivery, neonatal sepsis Sx in the neonate - Meconium staining of the liquor (green/yellow/brown amniotic fluid --> most commonly caused by fetal hypoxia, otherwise maternal hypertension, diabetes or infection) - Widespread rash - septicaemia - Pneumonia - Meningitis (late onset would present with meningitis - better prognosis) Tx Amoxicillin

Answer 146

High risk to an infant if mother has a primary genital infection - transmitted during passage through an infected birth canal. RF - Preterm infants Sx (presents up to 4 weeks of age) - Localised herpetic lesions on the skin/eye - Encephalitis - fever, seizure, vomiting Tx - If the mother is recognised as having primary disease or has genital herpetic lesions at the time of delivery, elective caeserean section is indicated - For oral sores/genital herpes - oral aciclovir (for women with recurrent herpes - risk of transmission to baby is low)

Answer 147

RF - Genetic predisposition, maternal use of anticonvulsants/antiepileptic during pregnancy e.g. phenytoin, maternal tobacco use Pathology An abnormal opening due to developmental failure in utero (1 in 1000 babies) - most common genital deformity affecting orofacial structures - most commonly combined cleft lip (frontonasal and maxillary processes) and palate (palatine process and nasal septum) Problems as a result - Feeding (orthodontic devices may help) - Speech (Speech therapy solves 75% of speech problems) - Increased risk of otitis media in cleft palate babies Tx Surgical repair of cleft lip first (first week-3 months) then cleft palate (6-12 months of age)

Answer 148

At birth - BCG 2 months, 3 months and 4 months- 6 in 1 (diphtheria, polio, pertussis, tetanus, haemophilus influenzae and hepatitis B) and Men B and rotavirus MMR at 12-13 months Less important 4 in 1 pre school booster at 3-4 years (D,T,P,P) HPV at 12-13 years 3 in 1 teenage booster - 13-18 years (D, T, P) + Men ACWY

Answer 149

THE MISFITS T- Trauma H - Heart (congenital/acquired heart disease) E - Endocrine (salt-wasting crisis - treat with hydrocortisone) M - Metabolic electrolyte abnormalities - hypoglycemia I - Inborn errors of metabolism - Metabolic acidosis (adrenal hyperplasia) S - Sepsis - Draw cultures and cover broadly F - Formula/Feeding - Necrotising enterocolitis, intolerance to formula/milk I - Intestinal - malrotation with volvulus - bilious vomiting, hirschprung's disease, intussusception T - Toxins - Maternal drug use - opiates, antiepileptics S - Seizure

Answer 150

Inflamed mesenteric lymph nodes often preceeded by a viral infection (It is self limiting) Usually just presents with abdominal pain throughout.

Answer 151

5 rescue breaths then 15:2 chest compressions

Answer 152

Commonest cause of respiratory distress in the newborn period. It is more common following caeserean sections (possibly due to lung fluids not being squeezed out) Chest x-ray would show - hyperinflation. of the lungs and fluid in the horizontal fissure. Management - observation and supportive care.

Answer 153

- Microcephaly - Absent philtrum - Reduced IQ - Variable cardiac abnormalities - Small eye opening (Rubella infection during pregnancy --> Leads to cataract, deafness, cardiac abnormalities)