PAEDIATRICS 3 Flashcards
How many newborns become visibly jaundiced?
Over 50%
Why does jaundice affect so many newborns? (3)
There is a release of haemoglobin from breakdown of RBCs at birth, and RBC lifespan is shorter in neonates than adults along with a less effective bilirubin metabolism
What is kernicterus?
Encephalopathy resulting from deposits of unconjugated bilirubin in the basal ganglia if at very high levels, can be fatal
What is the level at which clinical jaundice occurs?
80umol/L
What is the main cause of jaundice <24 hours?
Haemolysis i.e. rhesus haemolytic disease, ABO incompatibility, G6PD deficiency, congenital infection
Bilirubin is unconjugated and can rise rapidly
What is the cause of jaundice at 2 days - 2 weeks?
Physiological
Possibly breast milk jaundice, dehydration, infection
What is the cause of jaundice over 2 weeks? (5)
Physiological/breast milk, infection, hypothyroidism, obstruction, neonatal hepatitis
How is jaundice investigated? (3)
Blanch skin
Transcutaneous bilirubin meter/bloods
Check bilirubin levels against age and check rate of change
Assess risk factors
How is jaundice managed?
Phototherapy if moderate
If severe exchange transfusion
What is biliary atresia?
Cause of prolonged neonatal jaundice!, is a progressive disease with destruction or absence of the extrahepatic biliary tree and intrahepatic ducts
Symptoms of biliary atresia? (5)
Failure to thrive Jaundice Pale stools Dark urine Hepatosplenomegaly
How is biliary atresia investigated? (4)
LFTs
USS
Liver biopsy
Confirmed with laparotomy
How is biliary atresia treated?
Surgical bypass of the fibrotic ducts - success worse with age
Liver transplant
What are red flags in vomiting? (7)
Bile stained Bloody Projectile Painful Distension Dehydration Failure to thrive
Causes of vomiting in infants? (8)
GORD Infection Feeding problems Obstruction Intolerances Metabolic errors Congenital adrenal hyperplasia Renal failure
Causes of vomiting in young children? (7)
Gastroenteritis or other infection Appendicitis Obstruction Increased intracranial pressure Coeliac Metabolism errors
Caused of vomiting in school age children? (10)
Gastroenteritis/infection H.pylori/ulcers Appendicitis Migraine DKA Increased ICP Coeliac Alcohol Pregnancy Anorexia
What is gastro-oesophageal reflux?
Involuntary passage of gastric contents into the oesophagus
Why is GORD common in infancy?
Inappropriate relaxation oft he lower oeseophageal sphincter due to immaturity of the muscle, usually resolves by 1 year
What factors worsen GORD in infants? (3)
Fluid diet
Horizontal position
Short oesophagus
3 complications of GORD?
Failure to thrive
Oesophagitis
Aspiration
How is GORD diagnosed? (4)
Clinically
24hr pH monitoring if atypical
Endoscopy and biopsy
Contrast studies
How is uncomplicated GORD treated?
Add thickening agents to feeds and head up position maintained
How is severe GORD treated? (4)
H2 receptor antagonist ranitidine
Proton pump inhibitor
Investigate for intolerances
Surgery - Nissen fundoplication if refractory to reinforce closing of the sphincter
What does H.pylori infection cause in children? (3)
Nodular antral gastritis
Can uncommonly cause duodenal ulceration
Symptoms of gastritis? (3)
Abdominal pain
Nausea
Epigastric pain if duodenal
Investigation of gastritis? (3)
Carbon 13 breath test
Stool sample
Possible biopsy
How is gastritis infection treated?
Proton pump inhibitor
If H.pylori present, add a macrolide and amoxicillin
Management of recurrent gastritis?
Endoscopy - if normal, diagnose functional dyspepsia
Can try hypoallergenic diet
Why are childhood UTIs important to diagnose and investigate?
Up to 50% have a structural abnormality of the urinary tract
If pyelonephritis develops, can damage and scar kidneys
How do UTIs present in infants? (8)
Fever Vomiting Irritability Failure to thrive Jaundice Septicaemia Smelling urine Convulsions
How do UTIs present in children? (11)
Dysuria Frequency Loin pain Fever Anorexia Vomiting Haematuria Cloudy/smelling urine Convulsion Enuresis FTT!
How are UTIs diagnosed?
MSU for MC+S, dipstick
What are common organisms causing childhood UTIs? (4)
E.coli
Klebsiella
Proteus (esp in boys)
Pseudomonas
Management of initial UTI? (5)
Antibiotics
USS of kidneys ureters and bladder
If <1 year also do micturating cystourethrogram (MSUG) and DMSA radionuclide scan!
1-3 years DMSA
Over 3 years nothing else if USS normal and infection wasn’t atypical/severe
How are UTIs treated?
<3 months IV cefotaxime
>3 months pyelonephritis 7-10 days oral ciprofloxacin or co-amoxiclav
>3 months cystitis 3 days oral trimethoprim or nitrofurantoin
Except structural, 2 other causes of UTIs in children?
Incomplete bladder emptying
Vesicoureteric reflux
What is nephrotic syndrome?
Heavy proteinuria, resulting in low plasma albumin and oedema and hyperlipidaemia
Heavy proteinuria. Hypoalbuminaemia. Peripheral oedema.
What causes nephrotic syndrome?
Glomerulonephritis
May be secondary to Henoch-Schonlein purpura, SLE, infections, diabetes
What is glomerulonephritis?
Inflammation and damage to the glomeruli, allowing protein/blood to leak into the urine, can present with nephrotic or nephritic syndrome
What types of glomerulonephritis primarily case nephrotic syndrome and why?
Minimal change glomerulonephritis - abnormal podocytes (80% of nephrotic syndrome)
Focal segmental glomerulonephritis - sclerosed glomeruli
Membranous glomerulonephritis - thickened basement membrane
Signs of nephrotic syndrome?
Oedema - periorbital, scrotal/vulval, ankle/leg, ascites
Breathlessness - pleural effusions, abdominal distension
Investigations of nephrotic syndrome? (5)
Dipstick urine for MC and S FBC, ESR, U+E, autoantibodies Creatinine and albumin Throat swab Hep B and C Renal USS
What is the treatment for minimal change GN (nephrotic)? (3)
Prednisolone at 60mg/m2 for 4 weeks then 40 on alternate days for 4 weeks
Reduce oedema - fluid management, salt restriction, give diuretic and ACE inhibitor
Statin for hyperlipidaemia
What is the treatment of focal segmental GN (nephrotic)? (4)
Salt restriction and diuretics
ACE inhibitor
Statin for hyperlipidaemia
Transplant often required - steroids DONT work
What is the treatment of membranous GN (nephrotic)?
Prednisolone
1/3 have chronic GN, 1/3 remission, 1/3 renal failure
What are some complications of nephrotic syndrome? (4)
Hypovolaemia
Thrombosis
Infection
Hypercholesterolaemia
What is nephritic syndrome?
Haematuria with RBC casts in urine, hypertension, oliguria, small proteinuria - due to glomerular inflammation
Can rapidly progress to kidney failure
What causes nephritic syndrome?
Glomerulonephritis
What types of glomerulonephritis primarily cause nephritic syndrome? (4)
IgA nephropathy
Post infectious (streptococcal) GN
Membranoproliferative GN
Rapidly progressive GN
What are the types of rapidly proliferative glomerulonephritis (nephritic)? (3)
Goodpasture’s syndrome
Microscopic polyangitis
Grnaulomatosis with polyangitis
How is nephritic syndrome generally treated?
Monitor fluids and electrolytes
Diuretics
Possible steroids
If rapidly progressive - biopsy, immunosuppression and steroids, plasma exchange
What is post streptococcal (infectious) GN (nephritic)?
Usually follows weeks after sore throat (strep pyogenes)
Returns to normal <1 month
What is IgA nephropathy (nephritic)?
May present with macroscopic haematuria
24-48 hours post URTI infection
20% have end stage renal failure
What is Goodpasture’s syndrome (nephritic)?
Autoimmune ant glomerular basement membrane antibodies
Also affects lungs
Treat with steroids, plasmaphoresis
What is microscopic polyangitis (nephritic)?
Vasculitic
p-ANCA+ve, affects small vessels
Treat long term steroids and cytotoxics
What is Wegener’s granulomatosis/granulomatosis with polyangitis (nephritic)?
Vasculitic
c-ANCA+ve
Affects lungs and kidneys
Treat with steroids, plasmaphoresis, cyclophosphamide
What type of diabetes do children get?
Type 1 (rare type 2)
What causes diabetes mellitus?
Genetic disposition - family history, HLADR3/4 and other autoimmune association
Environmental - enteroviral infection, diet (cow milk proteins), overnutrition
When does diabetes mellitus present?
2 peaks - preschool and late teens
How does diabetes mellitus present? (5)
Polyuria Polydipsia Weight loss Young children - wet the bed, candida infection DKA uncommon
How is diabetes mellitus diagnosed? (6)
In symptomatic children with random blood glucose >11.1mmol/L Glycosuria Ketonuria Fasting blood test >7mmol/L HbA1c >48
How are most new cases of diabetes mellitus managed? (5)
SC insulin injections with education, BM monitoring
Reduced carb diet
Adjustment for illness, exercise
Hypoglycaemia education
Types of insulin regimes? (4)
Rapid acting
Short acting - before meals lasting 8 hours
Intermediate lasting 12 hours
Mixed
How can insulin be delivered?
Continuously via a pump
Injections - watch for fatty change
What is the most common insulin regime in children?
Pump or 3/4 short acting injections a day
How are hypoglycaemic attacks managed?
Glucose tablets/glucogel/glucagon injection
Complications of diabetes mellitus? (7)
Retinopathy Nephropathy Hypertension Neuropathy Coeliac/thyroid disease Delayed puberty Obesity
Signs of diabetic ketoacidosis? (7)
'Pear drop' breath Vomiting Dehydration Abdominal pain Hyperventilation Shock Coma
How is DKA managed? (6)
Fluids slowly over 48 hours Insulin infusion titrated with BM Give potassium Re-establish oral fluids, diet, SC insulin Identify cause
What causes type 1 diabetes?
Autoimmune destruction of the insulin producing beta cells of the islets of Langerhans in the pancreas
What causes type 2 diabetes?
Combination of inadequate insulin secretion by beta cells and peripheral insulin resistance
How common is undescended testicles?
4% of males at birth, more if preterm
1.5% by 3 months
What are the types of undescended testicles? (4)
Retractile - normally descend with age
Palpable in groin but can’t be manipulated in scrotum
Impalpable and may be in inguinal canal/abdomen
Absent
Investigations of undescended testicles?
Ultrasound
Hormonal tests if impalpable/absent
Laparoscopy
Treatment of undescended testicles?
Orchidopexy - surgery for fertility reasons and to reduce malignancy
When should testicles be descended in the baby?
3-6 months
What is torsion of the testes?
Spermatic cord rotates and becomes twisted, cutting off testicle blood supply - emergency
Most common in adolescents
Symptoms of testicular torsion?
Groin/scrotal/abdominal pain
Swelling
How is testicular torsion treated?
Within 6 hours to save testicle
Surgical exploration, and if confirmed fix both testicles in place
What is bell clapper deformity?
Tunica vaginalis joins high on the spermatic cord, so the testes are not anchored
What is hydrocoele?
Fluid around the testicles, caused by patent processus vaginalis, can occur after illness
Symptoms of hydrocoele? (4)
Swelling
Bluish discolouration
Non tender
Transilluminate
How is hydrocoele treated?
Most resolve but surgery if persistent after 2 years
What is varicocoele?
Varicosities of testicular veins, often around puberty, associated with decreased fertility
How is varicocoele treated?
Surgery if painful or impaired growth
What is congenital adrenal hyperplasia?
Group of inherited conditions where the adrenal gland is large, with a lack of cortisol and increase in androgens
What effects does CAH cause? (4)
Male characteristics to appear early in boys and inappropriately in girls
Less able to cope with stress
Hyponatraemia, hypoglycaemia
What is the mechanism behind CAH? (3)
Lack of 21-hydroxylase deficiency for cortisol synthesis
Inability to produce aldosterone
Cortisol deficiency stimulates pituitary to produce ACTH increasing androgens
In what patients is CAH more common?
Consanguineous
How does CAH present? (5)
Virilisation of female genitalia
Large penis and pigmented scrotum in males
80% salt losing crisis
Male non salt losers - tall stature
Female non salt losers - muscular, BO, pubic hair, acne
What is a salt losing (adrenal) crisis? (6)
Vomiting Weight loss Shock Hyponatraemia, hyperkalaemia, hypogylcaemia Metabolic acidosis
How is CAH treated? (5)
Females - corrective surgery externally
Glucocorticoids, mineralocorticoids
NaCl if salt losing
Additional corticosteroids if ill
How is a salt losing crisis treated? (3)
Hydrocortisone
Saline
Glucose IV
What is turners syndrome?
45X, female only has one normal X chromosome, normally spontaneous
How is turners syndrome diagnosed?
Antenatally
95% miscarry
Clinically
How does turners syndrome present? (9)
Short stature Lymphoedema of extremities Neck webbing Wide carrying angle Wide spaced nipples Coarctation of aorta Delayed puberty Infertility Hypothyroidism
How is turners syndrome treated? (3)
Growth hormone
Oestrogen replacement
ART for fertility
What is Edward’s syndrome?
Trisomy 18, most die in infancy
Symptoms of Edward’s syndrome? (7)
Low birthweight Prominent occiput Small mouth/chin Short sternum Overlapping flexed fingers Rocker bottom feet Heart/kidney malformation
What is Patau syndrome?
Trisomy 13, most die in infancy
Symptoms of Patau syndrome? (6)
Brain maldevelopment Scalp defects Small defected eyes Cleft lip Polydactyly Heart/kidney defects
What is Klinefelter syndrome?
47, XXY affects 1-2/1000 males
Symptoms of Klinefelter syndrome? (5)
Infertility, hypogonadism Small testes Gynaecomastia Tall Psychological problems
What is William’s syndrome?
Deletion of 27 genes on chromosome 7, usually sporadic
Symptoms of Williams syndrome? (5)
Short flat nasal bridge Elf like appearance Learning difficulties Heart disease Happy demeanour
What is failure to thrive?
Suboptimal weight gain in infants and toddlers
Causes of failure to thrive? (5)
Inadequate intake Inadequate retention Malabsorption Failure to utilise Increased requirement
Causes of inadequate intake?
Non organic (environmental) or organic
Causes of environmental inadequate intake? (5)
Feeding problems Inadequate milk Low socioeconomic status Maternal depression or poor education Neglect or child abuse
Causes of organic inadequate intake? (4)
Impaired suck/swallow (oromotor dysfunction)
Neurological problems
Cleft palate
Chronic illness - cystic fibrosis, Crohn’s
Causes of inadequate retention? (2)
GORD
Vomiting
Causes of malabsorption? (5)
Coeliac Cystic fibrosis Cow's milk protein allergy NEC Short gut
Causes of failure to utilise? (4)
Chromosomal disorders
Prematurity
Infection
Metabolic disorders
Causes of increased requirement? (6)
Hyperthyroid Cystic fibrosis Malignany Chronic infection Severe combined immunodeficiency Heart/renal disease
Management of failure to thrive?
Detailed history and examination for underlying disease - then treat
MDT care
Education and monitoring if no cause
Management of severe failure to thrive?
If <6 months and severe, admit for refeeding
What is a choledochal cyst?
Cystic dilatations of the extrahepatic biliary system
How does a choledocal cyst present? (4)
Abdo pain
Mass
Jaundice
Cholangitis
How is a choledocal cyst treated?
Surgical excision and anastomosis to biliary duct
What is neonatal hepatitis syndrome?
Prolonged neonatal jaundice and hepatic inflammation, may have IUGR and hepatosplenomegaly
Causes of neonatal hepatitis syndrome?
Congenital infection Metabolism errors Alpha antitrypsin deficiency Cystic fibrosis Galactosaemia
What is acute liver failure?
Development of massive hepatic necrosis with subsequent loss of liver function
Symptoms of acute liver failure? (7)
Jaundice Encephalopathy Coagulopathy Hypoglycaemia Electrolyte disturbance Haemorrhage Cerebral oedema
Management of acute liver failure? (4)
Maintain blood glucose
Prevent sepsis - Abx
Vitamin K to prevent haemorrhage
Liver transplant
Causes of chronic liver disease in children? (7)
Hepatitis B or C or autoimmune Drugs - NSAIDs IBD Wilson disease Cystic fibrosis Alpha antitrypsin deficiency Neonatal liver disease
Symptoms of chronic liver disease?
Acute hepatitis Hepatosplenomegaly Cirrhosis Portal hypertension Lethargy, malnutrition
Management of liver disease?
Treat specific causes Adequate nutrition Fat soluble vitamins ADEK Ursodeoxycholic acid for itching Liver transplant
What is congenital nephrotic syndrome?
Inherited disorder, infants present with LBW, oedema, hypoalbuminaemia, proteinuria, often leads to kidney failure
What is haemolytic uraemic syndrome?
Triad of acute renal failure, microangiopathic haemolytic anaemia and thrombocytopaenia
Cause of haemolytic uraemic syndrome?
Typically secondary to GI infection with e.coli of shigella
Bacteria cause intravascular thrombogenesis in kidneys
Coagulation pathway activated, platelets consumed
RBC damage through occluded vessels
Symptoms of haemolytic uraemic syndrome? (7)
Diarrhoeal prodrome (bloody) Haematuria Oliguria Hypertension Abdo pain, vomiting Oedema Possible purpura
Complications of HUS?
Acute kidney injury
Treatment of HUS? (2)
Early supportive therapy
Dialysis
What is acute kidney injury?
Acute renal failure where there is a sudden reversible reduction in renal function
Types of AKI?
Prerenal (commonest in paeds)
Renal
Postrenal
Prerenal AKI causes? (5)
Gastroenteritis Burns Sepsis Nephrotic syndrome Circulatory failure Anything that causes hypovolaemia
Renal AKI causes? (4)
Haemolytic uraemic syndrome
Acute tubular necrosis
Renal vein thrombosis
Glomerulonephritis
Postrenal AKI causes?
Obstruction
Treatment of AKI? (3)
Prerenal - correct hypovolaemia, circulatory support
Renal - restrict fluids, diuretic, high calorie diet
Postrenal - nephrostomy, bladder catheterisation, surgery
Dialysis
When is dialysis indicated? (5)
Failure of treatment Severe electrolyte disturbances Pulmonary oedema or hypertension Severe acidosis Multisystem failure
Causes of chronic renal failure? (4)
Structural malformations
Glomerulonephritis
Hereditary nephropathies
Systemic diseases
Presentation of chronic renal failure? (6)
Anorexia Lethargy, failure to thrive Polydipsia and polyuria Bony deformities - renal rickets AKI Anaemia
Management of chronic renal disease? (8)
Nutrition Vitamin D, restrict phosphate Salt and fluids Bicarbonate supplements Erythropoietin Give growth hormone Dialysis Transplant
What is renal agenesis?
Absence of both kidneys causing reduced fetal urine and oligohydramnios = fetal compression - Potter syndrome
What is multicystic dysplastic kidney?
Failure of union of the ureteric bud with the nephrogenic mesenchyme, non functioning, large cysts, no connection with bladder
What are autosomal dominant and recessive polycystic kidneys?
Large cystic kidneys that maintain some function but predisposed to renal failure
What is a horseshoe kidney?
Pelvic kidney - abnormal caudal migration, in midline, may predispose to infection or obstruction
What are duplex kidneys?
Premature division of the ureteric bud, varies from a bifid renal pelvis to complete division with 2 ureters, often have abnormal drainage
Management of renal malformations? (4)
Prophylactic antibiotics at birth to prevent UTI USS Treat chronic kidney disease/AKI Dialysis Transplant
What is vesicoureteric reflux?
Developmental abnormality of the vesicoureteric junctions, ureters are laterally displaced and shortened and enter directly into bladder rather than angled
What does VUR cause?
Reflux into the renal system - can cause distended ureters and renal pelvis
Treatment of VUR? (3)
Many resolve on own with growth
Treat infections
Surgery - ureteric valve
What is Alport syndrome?
Familial nephritis, X linked recessive that progresses to end stage renal failure, associated with deafness and ocular defects
What is SLE?
Systemic lupus erythematosus, autoimmune disease, may present with haematuria or proteinuria
Effect of SLE on kidneys?
AKI, CKD from lupus nephritis
Immune complex deposition along the glomerular basement membrane
What is Henoch Schonlein purpura?
Inflammation of small blood vessels - vasculitis, possibly due to IgA and IgG complexes and complement activation
Cause of nephritis
Symptoms of Henoch Schonlein purpura? (6)
May be preceded by URTI
Purpuric palpable rash over buttocks, extensor surfaces of arms and legs, ankles - TRUNK SPARING
Joint pain in knees and ankles
Joint swelling
Abdominal pain
Glomerulonephritis - haematuria, possible proteinuria
Treatment of Henoch Schonlein purpura? (4)
Fluid and electrolyte balance Diuretics Possible steroids for abdo pain Monitor for deterioration after resolution Self limiting
What is impetigo?
Localised highly contagious staphylococcal and/or streptococcal skin infection, more common where there is pre-existing skin disease
Lesions in impetigo?
On the face, neck and hands and begin as erythematous macules which may become vesicular/pustular or blistered, drainage leaves honey-coloured crusted lesions
Treatment of impetigo?
Topical Abx for mild
Systemic flucloxacillin or co-amoxiclav for severe
What is scalded skin syndrome?
Caused by staphylococcus causing separation of the epidermal skin from underlying layers, widespread erythema and tenderness, treat with IV abx
What is whooping cough?
Highly contagious respiratory infection caused by Bordatella pertussis, epidemics every 3-4 years
Symptoms of whooping cough? (5)
Week of coryza, then development of characteristic paroxysmal cough followed by inspiratory whoop
Cough worse at night, may vomit
Red/blue in face when coughing, may have epistaxis
Infants - apnoea instead of whoop
May decrease but persist for months
Management of whooping cough?
If severe, isolated in hospital
Erythromycin - only helps symptoms if started in coryzal phase
Close contacts - erythromycin prophylaxis
Name 2 diseases eradicated by the vaccination programme?
Diptheria, polio
What are the major routes of HIV transmission to children?
Mother to child transmission - intrauterine, intrapartum, breastfeeding
Infected blood products
Rare - contaminated needles,sexual abuse
Diagnosis of HIV in children? (2)
Transplacental maternal IgG HIV detection if <18 months and mum has HIV shows exposure
HIV DNA PCR positive shows infection
Features of HIV in children? (5)
Some progress rapidly to AIDS wihin a year
Some asymptomatic for years before progressing
Lymphadenopathy
Recurrent bacterial infections or candidiasis
Lymphocytic interstitial pneumonitis
Indications of severe HIV infection? (4)
Pneumocystis jiroveci (carinii) pneumonia (PCP)
Severe failure to thrive
Encephalopathy
Malignancy
With what symptoms should you test for HIV? (6)
Persistent lymphadenopathy Hepatosplenomegaly Recurrent fever Parotid swelling Thrombocytopaenia Serious, persistent, unusual, recurrent infections
Treatment of HIV? (4)
Infants should start antiretroviral therapy after diagnosis
Older children based on viral load and CD4 count
Co-trimoxazole for PCP prophylaxis
Up to date immunisations (not BCG as live)
What is encephalitis?
Inflammation of the brain, caused by viruses such as HSV, post-infectious encephalopathy after VZV, slow virus such as HIV
Symptoms of encephalitis? (4)
Fever
Altered consciousness
Seizures
Behaviour change
Treatment of encephalitis?
High dose aciclovir IV
What does candida infection commonly cause in children?
Nappy rash - erythematous, involves the flexures, treat with topical antifungal
What is irritant dermatitis?
Nappy rash, affects convex surfaces of buttocks perineum abdomen and thighs but flexures are spared, use emollient or topical steroids
What is toxic shock syndrome?
Caused by staph aureus and group A strep, gives fever hypotension and a diffuse erythematous macular rash and can cause organ dysfunction
Treatment of toxic shock syndrome?
Surgical debridement of affected areas
Ceftriaxone and clindamycin
What is scarlet fever?
Caused by group A strep infection, can lead to rheumatic fever/post strep glomerulonephritis/reactive arthritis
Symptoms of scarlet fever? (6)
Sore throat, fever, headaches, swollen lymph nodes, and a characteristic rash - red and like sandpaper, starts on face can spread to body
Strawberry tongue
Treatment of scarlet fever?
Antibiotics - penicillin/amoxicillin
What is coxsackie disease?
Hand foot and mouth disease - flu like symptoms, blisters
How is coxsackie treated?
Supportive
Watch for meningitis/encephalitis
Types of immune deficiency?
Primary - intrinsic defect, mostly inherited
Secondary - caused by another disease/treatment such as infection, HIV, malignancy, immunosuppression, splenectomy, malnutrition
Presentation of immune deficiency? (6)
Recurrent bacterial infections Severe infections Atypically presenting infections Failure of treatment for infections Unexpected causative pathogen Extensive candidiasis Severe, Prolonged, Unusual or Recurrent
Management of immune deficiency? (5)
Antimicrobial prophylaxis Prompt treatment of infection, lower course abx Screen for end organ disease Ig replacement therapy Bone marrow transplantation - for SCID
What are febrile seizures?
Seizure accompanied by a fever in the absence of intracranial infection due to bacterial meningitis or viral encephalitis, occur in 3% between 6 months and 5 years
Features of febrile seizures?
Occur early into a viral infection when temp rises
Usually brief generalised tonic clinic
If focal, prolonged or repeated in same illness risk of epilepsy increased
Management of febrile seizures? (3)
Infection screen
If unconscious/unstable, abx
If prolonged, rescue rectal diazepam
What is premature sexual development?
Development of secondary sexual characteristics before 8 in girls and 9 in boys
What is precocious puberty?
Premature sexual development either gonadotrophin-dependent with premature activation of HPG axis or gonadotrophin-independent from excess sex steroids
Cause of precocious puberty?
Females - premature onset of puberty
Male - more often organic cause such as intracranial tumour, adrenal hyperplasia, gonadal tumour
Management of precocious puberty?
Detect and treat underlying pathology Reduce rate of skeletal maturation Address psychological/behavioural issies Gonadotrophin-dependent: GnRH analogues Gonadotrophin independent: Androgen inhibitors medroxyprogesterone acetate
What are thelarche and pubarche?
Thelarche - breast development
Pubarche - pubic hair development
What is Prader-Willi syndrome?
Genetic disorder caused by loss of function of genes, mostly due to paternal partial deletion of chromosome 15 - imprinting disorder
Features of Prader-Willi syndrome? (8)
Characteristic facial features Hypotonia Feeding problems FTT Obesity Hypogonadism Developmental delay Learning difficulties
What is Noonan syndrome?
Mutation in one of several autosomal dominant genes
Features of Noonan syndrome? (6)
Characteristic facial features Mild learning difficulty Short webbed neck, trident hair line Pectus excavatum Short stature Congenital heart disease
What is Angelman syndrome?
Loss of function of part of a maternal copy of chromosome 15 - imprinting disorder
Features of Angelman syndrome?
Cognitive impairment
Characteristic facial appearance
Ataxia
Epilepsy
What is muscular dystrophy?
Group of inherited disorders with muscle degeneration that is often progressive
What is Duchenne muscular dystrophy?
Most common dystrophy, X linked recessive so affects males, deletion of a site of the short arm of the X chromosome that codes for dystrophin
What does dystrophin do?
Connects the cytoskeleton of the muscle fibre to the surrounding extracellular matrix through the cell membrane - deficiency leads to myofibre necrosis
Presentation of Duchenne muscular dystrophy? (7)
Waddling gait Language delay Difficulty running, with stairs Pseudohypertrophy of calves due to fat replacement Clumsiness Scoliosis Learning difficulty
Complications of Duchenne muscular dystrophy?
Limited life due to respiratory failure or cardiomyopathy
Management of Duchenne muscular dystrophy? (6)
Exercise and stretching
Night splints to prevent contractures
Orthoses and Achilles lengthening to help walk
Brace for scoliosis/metal rod insertion
Overnight CPAP
Corticosteroids 10 days a month to preserve mobility
What are causes of hypogonadotrophic hypogonadism? (4)
Systemic disease - cystic fibrosis, asthma, Crohns, anorexia, excess training
Panhypopituitarism
Isolated gonadotrophin deficiency
Acquired hypothyroidism
What are causes of hypergonadotrophic hypogonadism? (3)
Chromosomal abnormalities - Klinefelters, Turners
Steroid hormone enzyme deficiencies
Gonadal damage - surgery, chemo, trauma
What is delayed puberty?
Absence of pubertal development by 14 in females 15 in males, more common in males due to constitutional delay
Caused of delayed puberty? (3)
Constitutional
Hypogonadotrophic hypogonadism - low gonadotrophic secretion, problem with pituitary/hypothalamus
Hypergonadotrophic hypogonadism - high gonadotrophin secretion, problem with gonadal response to hormones
Management of delayed puberty? (4)
Karyotyping
Thyroid, sex hormone test
Treatment not normally needed - if so, oxandrolone for boys (weak androgen steroid) or IM testosterone
For girls, oestradiol
How is childhood obesity defined?
BMI >98th centile for age and sex, >91st centile is overweight
Complications of obesity?
Type 2 diabetes
CV disease
2 exogenous causes of obesity?
Hypothyroidism
Cushings disease
Management of obesity? (4)
Sustained changes in lifestyle - healthier eating, increased physical activity, reduction in inactivity
Drug treatment if extreme obesity and over 12 or complications of obesity, after lifestyle changes - orlistat (lipase inhibitor), metformin (increases insulin sensitivity)
Bariatric surgery e.g. gastric banding
What is respiratory distress syndrome?
RDS - deficiency of surfactant which lowers surface tension in the lungs, more common with increasingly early birth
Surfactant physiology?
Mixture of phospholipids and proteins
Excreted by type II pneumocytes of the alveoli
Deficiency leads to alveolar collapse and inadequate gas exchange
Prevention of RDS?
Give mother glucocorticoids if preterm delivery anticipated
Signs/symptoms of RDS? (4)
Tachypnoea >60bpm Laboured breathing, chest recession, nasal flaring Expiratory grunting Cyanosis Within 4hr of birth
What is shown on X ray in RDS?
Bilateral pneumothorax
Treatment of RDS? (2)
Oxygen - possibly CPAP, mechanical ventilation
Surfactant therapy into lung via tracheal tube
What is bronchopulmonary dysplasia?
Infants who still have oxygen requirement at 36 weeks post gestation - chronic lung disease
Cause of bronchopulmonary dysplasia? (3)
Pressure/volume trauma from artificial ventilation
Oxygen toxicity
Infection
Treatment of bronchopulmonary dysplasia?
CPAP oxygen at home
Short course corticosteroids for earlier ventilation weaning
What is meconium aspiration?
Meconium inhaled by the infant at birth, particularly if prolonged gestation or fetal hypoxia due to gasping
Complications of meconium aspiration? (4)
Meconium is a lung irritant
Results in mechanical obstruction and chemical pneumonitis
Predisposes to infection
High incidence of air leak - pneumothorax
Persistent pulmonary hypertension of the newborn
Management of meconium aspiration? (2)
Suction airways
Artificial ventilation
What are the TORCH infections?
Toxoplasmosis Other - syphilis, VZV, parvovirus Rubella Cytomegalovirus Herpes
What are the TORCH infections associated with?
Common viruses associated with congenital anomalies
What is hypoxic-ischaemic encephalopathy?
Hypoxic-ischaemic injury to the brain due to perinatal asphyxia compromising gas exchange and cardiac output, causing brain damage or death
Causes of HIE? (5)
Placental exchange failure - prolonged contractions, abruption, ruptured uterus
Interruption of umbilical blood flow - shoulder dystocia, cord prolapse
Maternal hypo/hypertension
IUGR, fetal anaemia
Failure of cardiorespiratory adaptation at birth
Symptoms of HIE?
Mild - irritable, excessive response to stimulation, impaired feeding, hyperventilation
Moderate - marked abnormalities of tone and movement, cannot feed
Severe - seizures, no normal movements or response to pain, hypo and hypertonic limbs, multi organ failure
Management of HIE? (6)
Respiratory support EEG Anticonvulsants Fluid restriction Treat electrolyte imbalances Cooling if within 6hr of birth
Prognosis of HIE?
Complete recovery if mild
If abnormalities persist over 2 weeks, full recovery unlikely
Severe has mortality of 30-40% and 80% have disability such as cerebral palsy
What is necrotising enterocolitis?
Mostly affects preterm infants, associated with bacterial invasion of ischaemic bowel wall, more likely if fed cows milk formula
Symptoms of NEC? (6)
Infant stops tolerating feeds Milk aspiration from stomach Vomiting may be bile stained Distended abdomen Fresh blood in stool Shock
What is shown on X ray in NEC? (4)
Distended loops of bowel
Thickening of bowel wall with intramural gas
Air in hepatic portal tract
Air under diaphragm if bowel perforation
Management of NEC? (4)
Stop feeding orally - parenteral
Broad spectrum antibiotics
Artificial ventilation, circulatory support
Surgery if bowel perforation - resection
How is newborn listeria monocytogenes transmitted?
To the mother from food such as unpasteurised milk, soft cheese, undercooked poultry
Symptoms of listeria monocytogenes infection in the newborn? (8)
Spontaneous abortion Preterm delivery Sepsis Meconium stained liquor Widespread rash Pneumonia Meningitis
When is hypoglycaemia in a newborn more likely? (7)
IUGR Preterm Mother has diabetes mellitus Large baby Hypothermic Polycythaemic Ill for any reason
Why do diabetic mothers have hypoglycaemic babies?
Sufficient glycogen stores (as opposed to preterm/IUGR infants) but hyperplasia of pancreatic islet cells causes high insulin levels
Symptoms of hypoglycaemia in the newborn? (6)
Jittery Irritable Apnoea Lethargy Drowsiness Seizures
Management of newborn hypoglycaemia?
Early frequent milk feeding
IV glucose if very low
What causes cleft lip or palate?
Cleft lip - failure of fusion of the frontonasal and maxillary processes
Cleft palate - failure of fusion of the palatine processes and nasal septum
Management of cleft lip/palate? (2)
Surgery in first few weeks/months
Special teats/feeding devices
