Paeds - Pyrexia and Rash Flashcards
What is Immune Thrombocytopenic Purpura (ITP)?
ITP is an immune-mediated reduction in platelet count
- Auto-antibiodies directed against glycoprotein IIb/IIIa or Ib-V-IX complex
- Self-limiting - runs course over 1-2 weeks
- Acute form is more commonly seen in children
- Male : Female equally
- Can follow an infection or vaccination
What is Evan’s Syndrome?
A rare auto-immune disorder of
ITP in association with autoimmune haemolytic anaemia (AIHA)
- Low platelets
- Low RBCs
- Can include neutropenia
What are the features of ITP?
- Thrombocytopenia
- Purpura & petechiae
- Some spontaneous bleeding - gums + nose + heavy periods
- Can rarely cause spontaneous GI or Brain bleed (<5%)
- Absence of medicines - the following can cause drug induced thrombocytopenia; heparin, alcohol, quinine/quinidine, sulfa drugs
- No lymphadenopathy
- No hepatomegaly or splenomegaly
What investigations can be done to diagnose ITP?
- FBC - identifies low platelets
- Blood film - to rule out Leukaemia
- Bone marrow sample (chronic ITP) - to check for normal no. of platelet parent cells (megakaryocytes))
What is the prognosis of ITP?
- Many children improve within 6-weeks with or without treatment
- 3/4 have improved by 6-months
- When ITP recovers ~ 1 in 20 will have a future episode
How is ITP managed?
Often NO treatment!!
- Inform docs, dentists etc known your child has ITP (bleed risk)
- Avoid drugs; aspirin, ibuprofen (calprofen) & herbal medication - can increase risk of bleeding
- If spontaneous bleeding –> tranxexamic acid TDS (won’t change platelet count but forms clots to prevent bleeding)
- If organ/life threatening bleeding present then all pts recieve:
- Platelet transfusion
- IVIG
- Corticosteroid
What is Testicular Torsion?
A twist of the spermatic cord causing testicular ischaemia and necrosis
- Most common age = 10-30yr old
What are the features of testicular torsion?
-
Pain - sudden onset & severe
- Can be referred to lower abdomen
- Can be intermittent ‘on-off’ pain due to torsion + spontaneous de-torsion
- Nausea & vomiting may be present
-
Swollen, tender testis retracted upwards
- Testis may be red
- Abnormal testicular lie - axis of testicle changes from verticle to more horizontal
-
Cremasteric reflex is lost
- elevation of the testis does not ease the pain
- Cremasteric reflex = stroke of inner thigh causes ipsilateral cremaster muscle to contract and raise testicle
How is testicular torsion managed?
- Immediate urological consult for Surgical exploration
- Pt must fast until surgical review
- If testicle is torted (torsion) then both testes should be fixed as the condition of Bell-Clapper is often bilateral
- Bell Clapper deformity = anatomical anomoly where testicles can freely rotate in tunica vaginalis - accounts for 90% of intra-vaginal torsion
- Analgesia e.g. morphine (testicular torsion causes severe pain)
- Manual de-torsion (if no surgery within 6hrs) - ‘open book’ method of right testicle counter-clockwise and left testicle clockwise
How can testicular torsion be differentiated from epididymitis?
Expert doppler ultrasound
looking for flow of testicular blood vessels
What is a hydatid of Morgagni?
It is an embryological remnant found on the upper pole of the testis
- Torsion of the hydatid of Morgagni classically affects males just before puberty
- Pain - increasing over 1-2 days
- Torted hydatid may be seen (blue dot sign) or felt
- Management:
- Surgical exploration + excision
What is idiopathic scrotal oedema?
- Usually, painless bilateral scrotal swelling & redness
- often in pre-school boy
What is Epididymitis?
Inflammation of the epididymis, and often involves the testis (called Epididymo-orchitis)
- Often bacterial infection
- Spreads from urethra or bladder
- Men < 35 yrs –> gonorrhoea or chlamydia are the usual infections
- Amiodarone –> can cause drug-induced epididymitis - simply stop amiodarone
- Tenderness is often well confined to epididymis (can be used to differentiate from testicular torsion, where pain often affects entire testis)
What conditions cause anaemia via destruction of RBCs?
- G6PD
- Sickle-cell
- Thalassaemia
- Drug / viral induced haemolytic anaemia
- Physiological anaemia of the newborn
Name some conditions that cause anaemia via RBCs being lost?
- Haemorrhagic disease of the newborn
- IBD
- Cowsmilk protein enteropathy
- Clotting disorders
- Menstuation
Name some conditions that cause cause anaemia due to producing RBCs too slowly?
- Blackfan diamond syndrome
- Transient aplastic anaemia
- Iron deficiency anaemia
- Chemotherapy
- Leukaemia
What is sickle cell disease?
Sickle Cell Disease = an autosomal recessive condition that results from a mutation of the beta chain of adult haemoglobin (HbA = α2β2). The mutated beta chain gene now forms an abnormal haemoglobin chain (HbS)
- Commonest genetic disorder in children in UK
- More common in African people
- Heterozygous sickle-cell –> provides protection against malaria
- Heterozygous people are only symptomatic if severely hypoxic
- Sickle RBCs are fragile –> often haemolyse (rupture)
- Sickle RBCs block small blood vessels –> infarction
- Characterised by periods of good health + intervening crisis
What are the different types of a sickle cell crisis?
Various Types of sickle cell crisis:
- thrombotic or ‘painful’ crisis or vaso-occlusive crisis
- sequestration
- acute chest syndrome
- aplastic - due to parovirus infection –> sudden fall in haemoglobin
- haemolytic (rare - fall in haemoglobin due to increased haemolysis)
When do you need an urgent x-ray in sickle cell patients?
- Any respiratory symptoms OR
- Drop in SpO2 → could be ARDS due to sickling in lungs!
What is the treatment for a sickle cell crisis?
- admit to hospital
- analgesia e.g. opiates within 30 mins of presentation to A&E
- rehydrate (IV fluids) - dehydration is a common precipitate of crisis
- oxygen - to correct low SpO2
- antibiotics - if evidence of infection
- blood transfusion - simple or exchange (remove pt blood and replace) if crisis is life-threatening
What is the long-term management for sickle cell disease?
-
Hydroxycarbimide (hydroxyurea) - a chemotherapy treatment also used in sickle cell disease
- Action: increases fetal haemoglobin (2 gamma globin chains instead of 2 beta globins) –> thus reducing no. of attacks
- Taken daily PO
- Monitor - for WBC suppression
- Pneumococcal vaccine every 5 years
-
Lifestyle:
- keep warm
- keep hydrated
- keep regular hours
- eat well
- some suggest penicillin prophylaxis to guard against pneumococcal infection
- Bone marrow transplant (last resort) - but can only be done safely if child has a HLA-identical sibling who can donate bone marrow (90% cure rate but 5% risk of fatal transplant)
What are the features of Sickle-Cell Anaemia?
Features:
- Anaemia → tiredness + SoB
- Increased risk of infections
- Sickle Cell Cises - can be severe + last up to 1-week
- Characterised by periods of good health + intervening crisis
What are the features of a thrombotic / ‘painful’ sickle cell crisis?
- Precipitant - infection, dehydration, hypoxia
-
Thrombi in various organs - can cause ischaemia:
- bones e.g. avascular necrosis of the hip
- lungs
- spleen
- brain
- Hand-foot syndrome
What is Hand-foot syndrome in relation to sickle cell disease?
Hand-Foot Syndrome
- Common 1st presentation of sickle cell disease
- Children 6-months - 3-years
-
Oedema of hands and/or feet - due to sickle cells obstructing venous flow leaving hands/feet
- Can be unilateral or bilateral
- Fever
What investigations might you do for sickle cell disease?
- DNA-base assays - expensive and rarely done but can confirm the mutation
- Blood film/smear - shows sickled erythrocytes
- FBC - ↓ Hb (anaemia)
- Reticulocyte count - ↑ Reticulocyte count
- Iron studies - serum iron, transferrin, ferritin levels, and serum iron-binding capacity are normal or elevated (excludes iron-deficiency anaemia)
- Bilirubin may be raised
What are the features of a Sequestration sickle cell crisis?
Sickling within organs e.g. spleen or lungs –> causes pooling of blood + worsening anaemia
- Hepatomegaly or splenomegaly
- Abdo pain
- Circulatory collapse due to accumulation of sickle cells in spleen
What are the features of acute chest syndrome sickle cell crisis?
- SoB (dyspnoea)
- Chest pain
- Pulmonary infiltrates
- Low SpO2
- Most common cause of death after childhood
When do symptoms of sickle cell anaemia 1st present?
In homozygotes, symptoms don’t develop until 4-6 months of age, when the abnormal HbSS takes over from fetal haemoglobin
What is G6PD deficiency?
Is an inborn error of metabolism due to a defect in a RBC enzyme called Glucose-6-phosphate dehydrogenase (G6PD) –> predisposes RBC to haemolysis
- More common in people of Mediterranean and Africa
- Males due to X-linked recessive inheritance
- Normally no symptoms - but symtpoms are brought on by triggers:
- Infections
- Drugs: primaquine (anti-malarial), ciprofloxacin, sulph-group drugs e.g. sulphonamides, sulphasalazine, sulfonylureas
- Fava beans
What are the features of G6PD deficiency?
- neonatal jaundice is common
- intravascular haemolysis
- gallstones
- splenomegaly - may be present
-
Heinz bodies on blood films = inclusions in RBCs composed of denature haemoglobin (seen via supravital staining)
- Blister cells - precursor to bite cells, RBCs containing a peripherally located vacuole
- Bite cells - abnormally shaped RBC with 1 or more semi-circular portions removed from cell margin (due to removal of denatured haemoglobin by spleen macrophages)
How is G6PD deficiency diagnosed?
G6PD enzyme assay
What are the Thalassaemia conditions?
They are due to gene defects which cause either a reduced or absent product of either alpha or beta haemoglobin chains
What is beta-thalassaemia and it’s types?
Low HbA (adult haemoglobin) production due to reduced production of beta-globin chain
- Autosomal recessive pattern
- More common in Indian, mediterranean and middle eastern
Types:
- Beta-Thalassaemia major - no HbA can’t be produced due to complete lack of beta-globin chain
- Beta-Thalassaemia intermediate - can produce some HbA and or large amounts of HbF (fetal)
What are the features of beta-thallasaemia?
- HbA absent
- HbA2 & HbF raised
- Microcytic anaemia
- Presents 3-6 months old - failure to thrive + hepatosplenomegaly
-
Transfusion dependant -
- without transfusions –> hepatosplenomegaly & bone marrow expansion
- lifelong transfusions monthly
- iron chelation to stop iron-overload from transfusions
What is alpha-thalassaemia?
Deficiency of alpha-globin chains in haemoglobin
- Humans have 2 seperate alpha-globulin genes on each chromosome 16 (4 total)
- Severity depends on number of alpha globulin alleles affected:
- 1 or 2 affected - hypochromic, microcytic but normal haemoglobin levels
- 3 affected - hypochromic, microcytic anaemia with splenomegaly
- 4 affected - death in utero
What is Diamond-Blackfan Anaemia?
Rare inherited congenital red cell aplasia
- Autosomal dominant with incomplete penetrance
- Macrocytic or normocytic anaemia
- Symptoms are of anaemia: pale skin, tiredness, irritability, heart murmur, tachycardia
What are the causes of iron deficiency anaemia?
-
Poor intake
- Dietary (low in red meat / dark greens)
-
Malabsorption
- Colorectal cancer
- Coeliac
- Bowel ressection
- IBD
-
Losses
- GI bleed
- peptic ulcer
- diverticulitis
- duodenal ulcer
- colorectal cancer
- Parasitic (hookworm, Africa)
- Menorrhagia
- Haematuria
- Medication (blood thinners)
- Pregnancy (↑ demands)
- GI bleed
How do you treat iron deficiency anaemia?
- Treat underlying cause - important to exclude malignancy
-
Ferrous sulfate (oral) :
- 200mg 2-3 time daily (therapeutic dose), 200mg daily (prophylactic dose)
- Treat until Hb is normal, then + 3 months (to replace stores)
- Side-effects:
- nausea,
- abdo pain
- diarrhoea
- constipation
- grey/dark stool
What are the signs of iron deficiency anaemia?
- Hypochromic, microcytic anaemia
- Fatigue
- SoB on exertion
- Palpitations
- Pallor
- Brittle hair + nails
- Atrophic glossitis
- Angular stomatitis
- Koilonychia
- Post cricoid webs - eosophageal webs (thin membranes protruding into the lumen)
What investigations might you do for iron-deficient anaemia?
- FBC - hypochromic, microcytic anaemia
-
Serum ferritin - low as serum ferritin correlates with iron stores
- Can be raised by inflammation (so if co-occuring inflammation then raised ferritin doesn’t rule out iron-deficient anaemia)
- Transferrin (iron-binding plasma protein) - high (reflects low iron stores) and transferrin saturation will be low
- Blood film - anisopoikilocytosis (RBC of dif sizes and shapes), target cells, ‘pencil’ poikilocytes (term for any abnormal shapes RBC)
- Endoscopy - to rule out malignancy
What is Acute Lymphoblastic Leukaemia (ALL)?
ALL is the most common malignancy affecting children (80% of childhood leukaemias) immature lymphoid cells proliferate (e.g. lymphocytes) –> take up marrow space so RBCs and platelets can’t be made
- Peak incidence = 2-5yrs old
- M>F
- Associated with antenatal x-ray & Down’s syndrome
- Philadelphia chromosome = poor prognosis
- Poor prognostic factors:
- age < 2 years or > 10 years
- WBC > 20 x 109/L at diagnosis
- T or B cell surface markers
- non-Caucasian
- male sex
What are the features of ALL?
- Anaemia - lethargy, pallor etc
- Neutropenia –> frequent or severe infections
- Thrombocytopenia –> easy bruising, petechiae
- Bone pain / joint pain (secondary to bone marrow infiltration)
- Splenomegaly
- Hepatomegaly
- Weight loss
- Night sweats
- Painless lymphadenopathy
- Testicular swelling
- Fever for days (present in up to 50% of cases)
How is ALL managed?
- Chemotherapy +/- steroids
- Radiotherapy
- Bone marrow transplant
What is acute myeloid leukaemia (AML)?
AML is the more common form of leukaemia in adults - results from overproduction of myeloblasts
Features:
- Anaemia - lethargy, pallor, weakness etc
-
Neutropenia –> frequent or severe infections
- WCC can be very high but neutrophil level is low
- Thrombocytopenia –> bleeding, petechiae
- Hepatosplenomegaly
- Lymphadenopathy
- Bone pain / joint pain
- Fever without infection
- Gum hypertrophy
- Leukaemia cutis - painless lumps, blue or purple, in neck, stomach, groin, underarm
- Chloromas - painless lumps, blue-green
What is Ewing’s Sarcoma?
A malignant tumour of mesenchymal origin (sarcoma) which develop in connective tissues - Ewing’s sarcoma is a tumour of bone
- Males (commoner)
- Onset 10-20yrs old (adolescents)
- 2nd most common bone cancer in children
- Near femoral diaphysis = commonest site
- Small round tumour
- Metastasis = common
What are the features of Ewing’s Sarcoma?
- Bone pain
- Swelling / stiffness in legs, arms, back, chest or pelvis
- Fever without infection
- Weight loss
- Pathological fracture - after low energy fall or impact
- Anaemia
What is Hodgkin’s lymphoma?
A malignant proliferation of lymphocytes which accumulate in lymph nodes or other organs
- Most common in 3rd and 7th decades
- Reed-Sternberg cells - giant cells found on biopsy, multi-nucleated or bi-lobed nucleus
- Lymphadenopathy (75%) - painless, non-tender, asymmetrical, painful after alcohol consumption
- Weight loss
- Night sweats
- Fever
- Haemoptysis
- Pruritus
- Normocytic anaemia
- LDH raised
How is Hodgkin’s lymphoma diagnosed?
Lymph node biopsy + histological analysis (Reed-Sternberg cells)
Hodgkin’s lymphoma is seperated into types based on histological classification - there are 4; what are they? How common are they? How is their prognosis?
-
Nodular sclerosing
- most common (70%)
- good prognosis
-
Mixed cellularity
- ~ 20%
- good prognosis
-
Lymphocyte predominant
- ~5%
- best prognosis
-
Lymphocyte depleted
- rare
- worst prognosis
‘B’ symptoms also imply poor prognosis:
- weight loss > 10% in last 6-months
- fever > 38ºC
- night sweats
What might investigations for AML show?
- FBC - raised WBC
- Marrow biopsy - AUER rods (see image)
What are the features of brain cancers in children?
- 2nd most common childhood cancer
Features:
- Irritable/lethargic
- Increased head size
- Excessive Thirst & urination
- Back pain unrelated to injury
- Vision, hearing and speech problems
- Balance problems
- Seizures
- Personality change
- Persistent vomiting
- Slow growth
What is a Wilm’s Tumour?
Wilm’s tumour is a nephroblastoma (kidney cancer) and one of the most common childhood malignancies
- 3-5 yrs old
- unilateral in 95% of cases
- abdominal mass (most common presenting feature)
- painless haematuria
- flank pain
- HTN
- anorexia
- fever
- constipation
- fever of unknow origin
- night sweats
- weight loss
- metastases are found in 20% of patients (most commonly lung)
What is a Retinablastoma + what are it’s features?
Retinablastoma = most common ocular malignancy in children (still rare)
- Avg age of diagnosis = 18 months (< 2yrs)
- Mostly unilateral
- ~ 40% are hereditary - autosomal dominant - LoF of retinoblastoma tumour supressor gene on chromosome 13
Features:
- Leukocoria (white pupil) - absence of red-reflex (commonest symptom)
- Strabismus (squint) - eyes don’t align with each other
- Visual problems
What are Haemaglobinopathies?
RBC disorders which cause haemolytic anaemia due to reduced or absent production of HbA (α2β2) or production of abnormal Hb
- Alpha and beta thalassaemias (reduced or absent HbA)
- Sickle cell disease (abnormal Hb)
