Child health Flashcards
Presentation and conditions
Achondroplasia
autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene
Signs and symptoms of achondroplasia
short limbs (rhizomelia) with shortened fingers (brachydactyly)
large head with frontal bossing and narrow foramen magnum
midface hypoplasia with a flattened nasal bridge
‘trident’ hands
lumbar lordosis
What type of mutation causes achondroplasia
- sporadic mutation
- autosomal dominant inherited
Treatment of achondroplasia
There is no specific treatment
Some patients may benefit from lengthening procedure (e.g lizards frames)
Features of epiglottis
rapid onset
high temperature, generally unwell
stridor
drooling of saliva
‘tripod’ position: the patient finds it easier to breathe if they are leaning forward and extending their neck in a seated position
Epiglottis
Acute epiglottitis is rare but serious infection caused by Haemophilus influenzae type B.
What are the imagining findings of epiglottis
a lateral view in acute epiglottis will show swelling of the epiglottis - the ‘thumb sign’
in contrast, a posterior-anterior view in croup will show subglottic narrowing, commonly called the ‘steeple sign’
Management of epiglottis
immediate senior involvement, including those able to provide emergency airway support (e.g. anaesthetics, ENT)
* endotracheal intubation may be necessary to protect the airway
DO NOT examine the throat due to the risk of acute airway obstruction
- oxygen
- intravenous antibiotics
Acute lymphoblastic Leukaemia
most common malignancy affecting children and accounts for 80% of childhood leukaemias
Peak incidence is around 2-5 years
- boys are affected more than girls
Features of ALL
anaemia: lethargy and pallor
neutropaenia: frequent or severe infections
thrombocytopenia: easy bruising, petechiae
bone pain (secondary to bone marrow infiltration)
splenomegaly
hepatomegaly
fever is present in up to 50% of new cases (representing infection or constitutional symptom)
testicular swelling
Types of ALL common ALL
common ALL (75%), CD10 present, pre-B phenotype
T-cell ALL (20%)
B-cell ALL (5%)
Poor prognostic factors of ALL
age < 2 years or > 10 years
WBC > 20 * 109/l at diagnosis
T or B cell surface markers
non-Caucasian
male sex
Alpha- thalassaemia
Alpha-thalassaemia is due to a deficiency of alpha chains in haemoglobin
2 separate alpha-globulin genes are located on each chromosome 16
When are Apgar scores taken?
1, and 5 minutes of age. If the score is low then it is again repeated at 10 minutes.
Score of 2 (Apgar)
Pulse > 100
Resp effort Strong, crying
Colour. Pink
Muscle tone Active movement
Reflex irritability Cries on stimulation/sneezes, coughs
Score of 1 (Apgar)
Pulse <100
Resp effort- weak, irregular
Colour- body pink and blue extremities
Muscle tone limb flexi on
Reflex irritability grimace
Score of 1 (apgar)
Pulse absent
Resp effort Nil
Colour blue all over
Muscle tone Flaccid
Reflex irritability nil
What is the interpretation of Apgar score
A score of 0-3 is very low score, between 4-6 is moderate low and between 7 - 10 means the baby is in a good state
Fluid maintenance in children
100ml/kg for the first 10kg, 50ml/kg for the next 10kg and 20ml/kg for every subsequent kg.
Components of the APGAR score
- appearance
- pulse
- grimance
- activity
- respiration
APGAR
Appearance relates to the colour of the child.
- 2 is for a pink baby
- 1 if the baby is blue peripherally but pink centrally
- 0 if the baby is blue all over
APGAR pulse
2 for >100 beats per minute
1 for <100 beats per minute
0 for a non-detectable heart rate
APFAR grimace
relates to the response to stimulation
2 for crying on stimulation scores
1 for a grimace
0 for no response
Apgar activty
2 for flexed limbs that resists extension
1 for some flexion
0 for a floppy baby
preseptal cellulitis
causes of cellulitis
- Staphylococcus aureus
- Streptococcus species
- Haemophilus influenzae type B (more common in children, especially those who are not vaccinated)
clinical characteristic of Noonan syndrome (5j
cardiac: pulmonary valve stenosis
ptosis
triangular-shaped face
low-set ears
coagulation problems: factor XI deficiency
clinical characteristic of Noonan syndrome (5j
cardiac: pulmonary valve stenosis
ptosis
triangular-shaped face
low-set ears
coagulation problems: factor XI deficiency
What is Noonan syndrome
Autosomal dominant normal karyotype
Affects chromosomes 12
Presentation of Noonan syndrome
webbed neck, widely-spaced nipples, short stature, pectus carinatum and excavatum
Marfan’s syndrome - genetics
- autosomal dominant
- defect in the FBN1 gene on chromosome 15
Features of Marfan’s syndrome
- tall stature with arm span to height ratio > 1.05
- high-arched palate
- arachnodactyly
- pectus excavatum
*pes planus - scoliosis of > 20 degrees
Marfan’s heart presentation
- dilatation of the aortic sinuses, can lead to
- aortic aneurysm
- aortic dissection
- aortic regurgitation
- mitral valve prolapse
Marfan’s syndrome eyes
upwards lens dislocation (superotemporal ectopia lentis)
blue sclera
myopia
Flexural
creases at the elbows, knees, wrists and neck
Flexural
creases at the elbows, knees, wrists and neck
Discoid
coin-sized areas of inflammation on the limbs
Follicular
small circular bumps around hair follicles
discoid and follicular distributions are more common in which ethnicities
Asian, Black Caribbean and Black African children.
Less itchy
Well-circumscribed, reddish, flat-topped plaques with silvery scales
Symmetrical
Psoriasis
Related to a topical allergen
Note: can be a trigger factor of atopic eczema
Allergic contact dermatitis
Related to a topical allergen
Note: can be a trigger factor of atopic eczema
Allergic contact dermatitis
What are the two most common forms of deliberate self-harm (DSH) in children and adolescents?
Overdoses and self-mutilation
Examples include paracetamol overdoses and cutting or burning.
How much more common is DSH in girls compared to boys up to the age of 16?
4 times more common
At ages 18 and 19, it is around twice as common in girls.
What are some risk factors for deliberate self-harm in children and adolescents?
- Mental health or behavioural problems
- History of self-harm
- Living in care or secure institutions
- Abusive home life
- Poor communication with parents
What positive purposes do some children attribute to self-harm?
- Relief from unbearable pressure or pain
- Suicide prevention strategy
- Coping strategy
- Means of communicating pain and distress
At what age does head banging become a concern as a sign of autism?
If it persists beyond 3 years
What are the four types of child abuse?
- Neglect
- Emotional abuse
- Physical abuse
- Sexual abuse
What legal framework governs child protection in the UK?
Children’s Act of 1989 and 2004
What are some features that should raise suspicion of neglect in a child?
- Severe and persistent infestations
- Failure to administer essential prescribed treatment
- Child who is persistently smelly and dirty
- Inadequate provision of food
What are some features that should raise suspicion of sexual abuse in a child?
- Persistent dysuria without medical explanation
- Pregnancy in young women aged 13-15 years
- STI in a child younger than 12 years
What are some features that should raise suspicion of physical abuse in a child?
- Any serious injury with absent explanation
- Bruising in a child not independently mobile
- Human bite mark not by a young child
What are common physical presentations of child abuse?
- Bruising
- Fractures
- Torn frenulum
- Burns or scalds
What are risk factors for child abuse related to the child?
- Prematurity
- Low birth weight
- Disability
- Chronic illness
What are parental risk factors for child abuse?
- Personal history of child abuse
- Teenage parents
- Substance abuse
- Psychiatric disorder
What characterizes infantile colic?
- Excessive crying and pulling-up of legs
- Occurs in infants less than 3 months old
What is the typical prevalence of infantile colic?
Up to 20% of infants
What are key features of Patau syndrome (trisomy 13)?
- Microcephalic
- Small eyes
- Cleft lip/palate
- Polydactyly
What are key features of Edward’s syndrome (trisomy 18)?
- Micrognathia
- Low-set ears
- Rocker bottom feet
- Overlapping fingers
What are key features of Fragile X syndrome?
- Learning difficulties
- Macrocephaly
- Long face
- Macro-orchidism
What are common features of Noonan syndrome?
- Webbed neck
- Pectus excavatum
- Short stature
- Pulmonary stenosis
What are key features of Turner’s syndrome?
- Short stature
- Shield chest
- Webbed neck
- Primary amenorrhoea
What is Cow’s milk protein intolerance (CMPI) and its prevalence in children?
Occurs in around 3-6% of all children
What are some immediate features of cow’s milk protein allergy (CMPA)?
- Regurgitation and vomiting
- Diarrhoea
- Urticaria
- Wheeze
What is the management for formula-fed infants with severe CMPA?
Amino acid-based formula (AAF)
What is faltering growth and its common presentation?
Commonly seen as weight loss in childhood
What are some factors contributing to faltering growth?
- Inadequate nutrient intake
- Feeding issues
- Child maltreatment
- Developmental delay
What should be done if an infant loses more than 10% of their birth weight in the early days?
Consider referral to paediatrics
What is the NICE guideline threshold for concern about growth in infants?
- Fall across 1 weight centile if birthweight <9th centile
- Fall across 2 weight centiles if birthweight 9th-91st centile
- Fall across 3 weight centiles if birthweight >91st centile
What is the definition of body mass index (BMI) in assessing growth?
Used to assess growth in children over 2 years
What are signs of concern for faltering growth in children older than 2 years?
- BMI below 2nd centile
- BMI below 0.4th centile
What should be measured for children under 2 years old to assess growth?
Length
What should be measured for children over 2 years old to assess growth?
Height
What is faltering growth often attributed to?
A combination of psychosocial, environmental, and biological factors
Name a factor that may contribute to inadequate intake of nutrients.
- Decreased availability of nutritious food
- Lack of knowledge of appropriate healthy food
- Feeding issues
- Child maltreatment
- Developmental delay
- Eating disorders
What can cause inadequate absorption of nutrients?
- Vomiting due to reflux or obstruction
- Malabsorption due to bowel disease
- Food allergy/sensitivity
- Coeliac disease
- Inflammatory bowel disease
- Protein-losing enteropathy
List some conditions that can lead to excessive energy output in children. (8)
- Immunodeficiency (e.g., SCID)
- Genetic conditions (e.g., Down’s syndrome)
- Malignancies
- Cardiac disease (e.g., congenital heart disease)
- Respiratory disease (e.g., cystic fibrosis)
- Endocrine disease (e.g., diabetes)
- Metabolic disease
- Renal disease
What is associated with improved prognosis in faltering growth?
Prompt recognition, establishing the underlying cause, and initiating the correct treatment
When should a baby be assessed for underlying disease related to weight loss?
If weight loss is more than 10% of birth weight or has not returned to birth weight by 3 weeks
What should be ensured for parents/carers if there is no need to refer to paediatrics?
Adequate feeding support from a trained healthcare professional
What is the recommended frequency for weighing infants less than 1 month old?
No more than once daily
What is the most common cause of vomiting in infancy?
Gastro-oesophageal reflux
What position should infants be advised to be in during feeds to manage gastro-oesophageal reflux?
30 degree head-up position
List some major risk factors for Sudden Infant Death Syndrome (SIDS).
- Prone sleeping
- Parental smoking
- Prematurity
- Bed sharing
- Hyperthermia
What are protective factors against SIDS?
- Breastfeeding
- Room sharing
- Use of dummies (pacifiers)
What is the first sign of puberty in males?
Testicular growth
What is the first sign of puberty in females?
Breast development
Which psychiatric patient factors are associated with increased suicide risk?
- Male sex
- History of deliberate self-harm
- Alcohol or drug misuse
- History of mental illness
- Depression
- Schizophrenia
- Chronic disease
- Advancing age
- Unemployment
- Social isolation
What should be recorded in all febrile children? (4)
- Temperature
- Heart rate
- Respiratory rate
- Capillary refill time
What is the management recommendation for children classified as green in the traffic light system?
Can be managed at home with appropriate care advice
What is the management recommendation for children classified as red in the traffic light system?
Refer child urgently to a paediatric specialist
What is biliary atresia?
A paediatric condition involving either obliteration or discontinuity within the extrahepatic biliary system, resulting in bile flow obstruction
It presents with cholestasis in the first few weeks of life.
What are the common presentations of biliary atresia?
Jaundice extending beyond two weeks, dark urine, pale stools, appetite and growth disturbance
These symptoms typically occur in the first few weeks of life.
What is the epidemiology of biliary atresia?
More common in females than males, occurs in 1 in every 10,000-15,000 live births
Biliary atresia is unique to neonatal children.
What are the types of biliary atresia?
Type 1: Common duct obliterated, proximal ducts patent
Type 2: Atresia of cystic duct with cystic structures in porta hepatis
Type 3: Atresia of left and right ducts to porta hepatis (>90% of cases)
These classifications help in understanding the severity and management of the condition.
What investigations are used for biliary atresia?
Serum bilirubin, liver function tests (LFTs), serum alpha 1-antitrypsin, sweat chloride test, ultrasound, percutaneous liver biopsy
These tests help differentiate biliary atresia from other causes of neonatal cholestasis.
What is the definitive treatment for biliary atresia?
Surgical intervention, including dissection of abnormalities and anastomosis creation
Medical intervention may include antibiotics and bile acid enhancers post-surgery.
What are the complications of biliary atresia?
Unsuccessful anastomosis formation, progressive liver disease, cirrhosis, hepatocellular carcinoma
These complications can significantly affect the patient’s prognosis.
What defines constipation in children?
Defecation that is unsatisfactory due to infrequent stools (< 3 times weekly), difficult stool passage, or incomplete defecation
It may develop as a primary functional disorder or secondary to another condition.
What are the management steps for constipation in children?
Exclude secondary causes, increase dietary fibre, ensure adequate fluid intake, first-line laxative: bulk-forming laxative, second-line: osmotic laxative
Regular follow-up is important to monitor progress and adjust treatment.
What is the common stool pattern for children diagnosed with constipation?
Fewer than 3 complete stools per week, hard large stools, ‘rabbit droppings’
This pattern varies based on the child’s age.
What are the red flags in diagnosing constipation?
Reported from birth, passage of meconium > 48 hours, faltering growth, neurological problems
These indicate a potential underlying disorder.
What is gastro-oesophageal reflux (GOR)?
Commonest cause of vomiting in infancy, characterized by regurgitation of feeds
It typically develops before 8 weeks of age.
What are the management recommendations for gastro-oesophageal reflux?
Position during feeds (30 degree head-up), sleep on back, smaller and more frequent feeds, trial of thickened formula or alginate therapy
PPIs are not recommended for isolated symptoms.
What is Henoch-Schonlein purpura (HSP)?
An IgA mediated small vessel vasculitis, often seen in children after an infection
Symptoms include palpable purpuric rash, abdominal pain, and polyarthritis.
What are the characteristic features of tension-type headache?
Bilateral pressure sensation, lower intensity than migraine, no aura or nausea
It may be related to stress and can coexist with migraine.
What is sickle-cell anaemia?
An autosomal recessive condition resulting from the synthesis of abnormal haemoglobin (HbS)
More common in people of African descent.
What are the types of crises in sickle-cell anaemia? (6)
Thrombotic crises
acute chest syndrome
anaemic crises
aplastic crises
sequestration
infection
Each type presents with different symptoms and management challenges.
What is the definitive diagnosis for sickle cell disease?
Haemoglobin electrophoresis
This test helps differentiate between the types of sickle cell disease.
What can precipitate painful vaso-occlusive crises?
Infection, dehydration, deoxygenation (e.g. high altitude)
Painful vaso-occlusive crises should be diagnosed clinically with no single test confirming them.
What are common sites for infarcts in sickle cell disease?
Bones, lungs, spleen, brain
Examples include avascular necrosis of the hip and hand-foot syndrome in children.
What is acute chest syndrome?
Vaso-occlusion within the pulmonary microvasculature causing lung parenchyma infarction
Symptoms include dyspnoea, chest pain, pulmonary infiltrates on chest x-ray, and low pO2. Occurs in sickle cell
What is the management for acute chest syndrome?
Pain relief, respiratory support (oxygen therapy), antibiotics, transfusion
Infection may precipitate acute chest syndrome and clinical findings can be difficult to distinguish from pneumonia.
What causes aplastic crises in sickle cell disease?
Infection with parvovirus leading to a sudden fall in haemoglobin
Bone marrow suppression results in a reduced reticulocyte count.
What occurs during sequestration crises?
Sickling within organs like the spleen or lungs causes pooling of blood and worsening anaemia
This is associated with an increased reticulocyte count.
What characterizes autism spectrum disorder (ASD)?
Qualitative impairment in social interaction, communication, and repetitive behaviours
Symptoms are usually present during early childhood but may manifest later.
What is the prevalence of ASD?
1-2%
ASD is three to four times more common in boys than girls.
What are common clinical features of ASD?
Impaired social communication, repetitive behaviours
Children may play alone and fail to regulate social interaction using nonverbal cues.
What is the goal of management for ASD?
Increase functional independence and quality of life
Treatment involves educational and behavioural management, medical therapy, and family counselling.
What are some non-pharmacological therapies for ASD?
Applied Behavioural Analysis (ABA), TEACCH, Early Start Denver Model (ESDM), JASPER
These interventions focus on early educational and behavioural approaches.
What defines attention deficit hyperactivity disorder (ADHD) according to DSM-V?
Features of inattention and/or hyperactivity/impulsivity that are persistent
Developmental delay must be present for diagnosis.
What is the prevalence of ADHD in the UK?
2.4%
ADHD is more common in boys than in girls with a ratio of approximately 4:1.
What are some diagnostic features of inattention in ADHD?
Does not follow through on instructions, easily distracted, forgetful in daily activities
Children often struggle with task organization.
What is the management approach for ADHD according to NICE?
Holistic approach with a ‘watch and wait’ period before considering drug therapy
Referral to secondary care is needed if symptoms persist.
What is the first-line medication for children with ADHD?
Methylphenidate
It should be given on a six-week trial basis, monitoring for side effects.
What causes hypoglycaemia?
Insulinoma, self-administration of insulin, liver failure, Addison’s disease, alcohol
Alcohol causes exaggerated insulin secretion through effects on pancreatic microcirculation.
What are the autonomic symptoms of hypoglycaemia?
Sweating, shaking, hunger, anxiety, nausea
These symptoms occur when blood glucose levels drop below 3.3 mmol/L.
What is the management for hypoglycaemia in the community?
Oral glucose 10-20g, GlucoGel, or a ‘HypoKit’ with glucagon
For patients who are alert, quick-acting carbohydrates are preferred.
What is pyloric stenosis?
Hypertrophy of the circular muscles of the pylorus leading to vomiting
It typically presents in the second to fourth weeks of life.
What are the features of pyloric stenosis?
‘Projectile’ vomiting, palpable mass in upper abdomen, hypochloraemic, hypokalaemic alkalosis
Constipation and dehydration may also be present.
How is pyloric stenosis diagnosed?
Ultrasound
Diagnosis is typically made based on imaging findings.
What is the management for pyloric stenosis?
Ramstedt pyloromyotomy
This surgical procedure is performed to relieve the obstruction.
What does abnormal development or developmental delay refer to?
A significant lag in a child’s physical, cognitive, behavioural, emotional, or social development relative to established growth milestones.
What are some common causes of abnormal development?
- Genetic disorders
- Prenatal exposure to toxins/drugs/alcohol
- Premature birth
- Nutritional deficiencies
- Environmental factors
What are referral points for developmental delay at 10 weeks, 12 months, and 18 months?
- Doesn’t smile at 10 weeks
- Cannot sit unsupported at 12 months
- Cannot walk at 18 months
What does hand preference before 12 months indicate?
It is abnormal and may indicate cerebral palsy.
What are the most common causes of gross motor problems?
- Variant of normal
- Cerebral palsy
- Neuromuscular disorders (e.g., Duchenne muscular dystrophy)
What is the differential diagnosis for developmental delay?
- Autism Spectrum Disorder (ASD)
- Cerebral Palsy
- Fragile X Syndrome
- Down Syndrome
- Fetal Alcohol Spectrum Disorders (FASDs)
What are the initial management steps for a child with suspected developmental delay?
- Clinical examination
- Investigations (genetic testing, metabolic screening, neuroimaging, hearing/vision assessments)
- Referral for specialist assessment
- Early intervention services
What are the major fine motor developmental milestones at 3 months and 12 months?
- 3 months: Reaches for object, holds rattle briefly
- 12 months: Good pincer grip, bangs toys together
At what age should a child be able to sit without support?
7-8 months (refer at 12 months)
What social behaviour milestone is expected at 6 weeks?
Smiles (refer at 10 weeks)
What is the risk of Down’s syndrome associated with maternal age 40?
1 in 100
What are the components of the combined test for Down’s syndrome screening?
- Nuchal translucency measurement
- Serum B-HCG
- Pregnancy-associated plasma protein A (PAPP-A)
What is the sensitivity and specificity of NIPT for trisomy 21?
Greater than 99%
What are the typical clinical features of Down’s syndrome?
- Upslanting palpebral fissures
- Epicanthic folds
- Brushfield spots in iris
- Protruding tongue
- Small low-set ears
- Round/flat face
What are some cardiac complications associated with Down’s syndrome?
- Endocardial cushion defect (40%)
- Ventricular septal defect (approximately 30%)
- Secundum atrial septal defect (approximately 10%)
What is the most common cause of admissions to child and adolescent psychiatric wards?
Anorexia nervosa
What are the DSM 5 criteria for anorexia nervosa?
- Restriction of energy intake leading to significantly low body weight
- Intense fear of gaining weight
- Disturbance in body weight or shape perception
What is the first-line treatment for children and young people with anorexia nervosa?
Anorexia focused family therapy
What physiological abnormalities are associated with anorexia nervosa?
- Hypokalaemia
- Low FSH, LH, oestrogens and testosterone
- Raised cortisol and growth hormone
What are the DSM 5 diagnostic criteria for bulimia nervosa?
- Recurrent episodes of binge eating
- A sense of lack of control over eating
- Recurrent inappropriate compensatory behaviour
What is Russell’s sign in bulimia nervosa?
Calluses on the knuckles or back of the hand due to repeated self-induced vomiting.
What treatment is recommended for adults with binge eating disorder?
A ‘binge-eating-disorder-focused’ guided self-help programme.
What are the primary classifications of eating disorders?
Anorexia nervosa, bulimia nervosa, binge eating disorder, other specified and unspecified feeding or eating disorders (OSFED/UFED)
Eating disorders are complex mental health conditions characterized by abnormal eating habits that negatively affect physical and psychological well-being.
Define anorexia nervosa.
Restriction of energy intake relative to requirements, leading to significantly low body weight, intense fear of gaining weight, and disturbance in body weight or shape perception
Criteria include restriction of food intake, intense fear of weight gain, and disturbance in self-worth related to body weight.
What are the criteria for diagnosing bulimia nervosa?
Recurrent episodes of binge eating, inappropriate compensatory behaviors, and self-worth overly influenced by body shape and weight, occurring at least once a week for three months
Binge eating involves consuming an abnormally large amount of food with a sense of lack of control.
What distinguishes binge eating disorder from bulimia nervosa?
Individuals with binge eating disorder do not consistently engage in inappropriate compensatory behaviors
Binge eating disorder involves recurrent episodes of binge eating associated with distress.
List the complications of untreated eating disorders.
- Cardiac arrhythmias
- Electrolyte imbalances
- Osteoporosis
- Increased risk of mortality
- Psychological complications like depression and anxiety
These complications can severely impact physical and mental health.
What is the recommended treatment for children with bulimia nervosa?
Bulimia-nervosa-focused family therapy (FT-BN)
NICE guidelines emphasize family therapy for children with bulimia nervosa.
True or False: Pharmacological treatments play a significant role in managing bulimia nervosa.
False
Pharmacological treatments have a limited role, with only high-dose fluoxetine licensed for bulimia.
What are the features that should raise suspicion of child neglect?
- Severe and persistent infestations
- Failure to obtain treatment for tooth decay
- Living environment unsafe for child development
These features indicate potential neglect in child welfare.
What should raise suspicion of child physical abuse?
- Serious or unusual injury with absent explanation
- Bruising or burns in a non-mobile child
- Cold injuries without medical explanation
Observations of unexplained injuries are critical indicators of potential abuse.
What is reactive arthritis?
Arthritis that develops following an infection where the organism cannot be recovered from the joint
It is associated with HLA-B27 and can follow dysenteric illnesses or sexually transmitted infections.
List three common organisms associated with post-dysenteric reactive arthritis.
- Shigella flexneri
- Salmonella typhimurium
- Campylobacter
These organisms are linked to the development of reactive arthritis following dysentery.
What are the main features of reactive arthritis?
- Develops within 4 weeks of initial infection
- Asymmetrical oligoarthritis of lower limbs
- Symptoms of urethritis and conjunctivitis
Symptoms typically last around 4-6 months, with some patients experiencing recurrent episodes.
Define pancytopenia.
Characterized by normochromic, normocytic anemia, leukopenia, and thrombocytopenia
It may present as the first sign of acute lymphoblastic or myeloid leukemia.
What are some drug causes of pancytopenia?
- Cytotoxic drugs
- Chloramphenicol
- Gold
Certain medications can lead to the development of pancytopenia.
Fill in the blank: Reactive arthritis is associated with _______ spondyloarthropathies.
HLA-B27
This association is significant in the epidemiology of reactive arthritis.
What is an extradural haematoma?
A collection of blood between the skull and the dura, typically caused by low-impact trauma
Often occurs in the temporal region due to injury to the middle meningeal artery.
What is the classical presentation of an extradural haematoma?
Initial loss of consciousness, brief regain of consciousness (lucid interval), followed by loss of consciousness due to expanding haematoma
This is often accompanied by brain herniation.
How does an extradural haematoma appear on imaging?
Biconvex (or lentiform), hyperdense collection around the surface of the brain, limited by suture lines
This distinguishes it from other types of haematomas.
What is the definitive treatment for an extradural haematoma?
Craniotomy and evacuation of the haematoma
What is idiopathic intracranial hypertension?
A condition characterized by increased intracranial pressure without an identifiable cause, often seen in young, overweight females
Also known as pseudotumour cerebri.
List the risk factors for idiopathic intracranial hypertension.
- Obesity
- Female sex
- Pregnancy
- Drugs (e.g., combined oral contraceptive pill, steroids, tetracyclines, retinoids, lithium)
What are the common features of idiopathic intracranial hypertension?
- Headache
- Blurred vision
- Papilloedema
- Enlarged blind spot
- Sixth nerve palsy may be present
What is papilloedema?
Optic disc swelling caused by increased intracranial pressure, almost always bilateral
List the features observed during fundoscopy in papilloedema.
- Venous engorgement
- Loss of venous pulsation
- Blurring of the optic disc margin
- Elevation of optic disc
- Loss of the optic cup
- Paton’s lines
What are the common causes of papilloedema?
- Space-occupying lesions
- Malignant hypertension
- Idiopathic intracranial hypertension
- Hydrocephalus
- Hypercapnia
What is the normal range for intracranial pressure (ICP) in adults?
7-15 mmHg
What is cerebral perfusion pressure (CPP)?
The net pressure gradient causing cerebral blood flow to the brain, calculated as CPP = mean arterial pressure - ICP
What are common features of increased intracranial pressure?
- Headache
- Vomiting
- Reduced levels of consciousness
- Papilloedema
- Cushing’s triad (widening pulse pressure, bradycardia, irregular breathing)
What is a subarachnoid haemorrhage (SAH)?
An intracranial haemorrhage defined as the presence of blood within the subarachnoid space
What is the most common cause of subarachnoid haemorrhage?
Head injury (traumatic SAH)
List the causes of spontaneous subarachnoid haemorrhage.
- Intracranial aneurysm
- Arteriovenous malformation
- Pituitary apoplexy
- Mycotic aneurysms
What are the classical presenting features of spontaneous SAH?
- Sudden-onset headache (thunderclap)
- Severe headache
- Nausea and vomiting
- Meningism
- Coma
- Seizures
What is the first-line investigation for suspected subarachnoid haemorrhage?
Non-contrast CT head
What is the significance of xanthochromia in lumbar puncture for SAH?
It helps to distinguish true SAH from a ‘traumatic tap’
Xanthochromia is a result of red blood cell breakdown.
What is the management for a confirmed aneurysmal subarachnoid haemorrhage?
- Supportive care
- Bed rest
- Analgesia
- Vasospasm prevention with nimodipine
- Prompt intervention for aneurysms
What are the complications of aneurysmal SAH?
- Re-bleeding
- Hydrocephalus
- Vasospasm
- Hyponatraemia
- Seizures
What is a subdural haematoma?
A collection of blood deep to the dural layer of the meninges, classified as acute, subacute, or chronic
What are the clinical features of an acute subdural haematoma?
- Rapid neurological deterioration
- Symptoms within 48 hours of injury
- Potential for coma and herniation
How does an acute subdural haematoma appear on CT imaging?
Crescentic collection, hyperdense compared to brain, not limited by suture lines
What is the management for chronic subdural haematoma?
- Conservative management if small and asymptomatic
- Surgical decompression if neurological deficits are present
What is Graves’ disease?
An autoimmune thyroid disease characterized by the production of IgG antibodies to the TSH receptor
List the typical features of Graves’ disease.
- Typical features of thyrotoxicosis
- Eye signs (exophthalmos, ophthalmoplegia)
- Pretibial myxoedema
- Thyroid acropachy
What are the common autoantibodies associated with Graves’ disease?
- TSH receptor stimulating antibodies
- Anti-thyroid peroxidase antibodies
What is the typical thyroid scintigraphy finding in Graves’ disease?
Diffuse, homogenous, increased uptake of radioactive iodine
What are the first-line treatment options for Graves’ disease?
- Anti-thyroid drugs (e.g., carbimazole)
- Radioiodine treatment
- Surgery
What is the percentage of TSH receptor stimulating antibodies found in Graves’ disease?
90%
What is the percentage of anti-thyroid peroxidase antibodies found in Graves’ disease?
75%
What is the typical finding in thyroid scintigraphy for Graves’ disease?
Diffuse, homogenous, increased uptake of radioactive iodine
What is the first-line therapy that has emerged for Graves’ disease?
Anti-thyroid drugs (ATDs)
What is the initial treatment to control symptoms in Graves’ disease?
Propranolol
What does NICE recommend for patients with Graves’ disease regarding care?
Referral to secondary care for ongoing treatment
What is the initial starting dose of carbimazole in ATD therapy for Graves’ disease?
40mg
What is the typical duration for the continuation of ATD therapy?
12-18 months
What is the major complication associated with carbimazole therapy?
Agranulocytosis
What is an alternative regime to ATD therapy termed?
‘Block-and-replace’
In radioiodine treatment, what are the contraindications?
- Pregnancy
- Age < 16 years
- Thyroid eye disease (relative contraindication)
What defines subclinical hyperthyroidism?
Normal serum free thyroxine and triiodothyronine levels with TSH < 0.1 mu/l
What are potential causes of subclinical hyperthyroidism?
- Multinodular goitre
- Excessive thyroxine
What are the potential effects of subclinical hyperthyroidism on health?
- Atrial fibrillation
- Osteoporosis
- Quality of life impact
- Increased likelihood of dementia
What is the management approach for patients with subclinical hyperthyroidism?
Persistent low TSH levels warrant intervention
What accounts for around 50-60% of cases of thyrotoxicosis?
Graves’ disease
What are some causes of thyrotoxicosis?
- Graves’ disease
- Toxic nodular goitre
- Acute phase of subacute thyroiditis
- Acute phase of post-partum thyroiditis
- Acute phase of Hashimoto’s thyroiditis
What is the investigation finding for toxic multinodular goitre?
Patchy uptake on nuclear scintigraphy
What is Kawasaki disease primarily characterized by?
High-grade fever lasting > 5 days
What are some features of Kawasaki disease?
- Conjunctival injection
- Bright red, cracked lips
- Strawberry tongue
- Cervical lymphadenopathy
- Red palms and soles that later peel
What is the management for Kawasaki disease?
- High-dose aspirin
- Intravenous immunoglobulin
- Echocardiogram for coronary artery aneurysms
What autoimmune disorder is Hashimoto’s thyroiditis associated with?
Hypothyroidism
What are the features of Hashimoto’s thyroiditis?
- Firm, non-tender goitre
- Anti-thyroid peroxidase antibodies
- Anti-thyroglobulin antibodies
What is the most common cause of primary hypothyroidism?
Hashimoto’s thyroiditis
What are common symptoms of hypothyroidism?
- Weight gain
- Lethargy
- Cold intolerance
- Dry skin
- Constipation
What is the initial starting dose of levothyroxine for elderly patients?
25mcg od
What is the recommended monitoring period after a change in thyroxine dose?
8-12 weeks
What is the therapeutic goal for TSH levels in hypothyroidism management?
Normalisation of TSH level (0.5-2.5 mU/l)
What is the risk associated with combination therapy of levothyroxine and liothyronine?
No evidence to support its use
What are the four phases of subacute thyroiditis?
- Phase 1: Hyperthyroidism, painful goitre, raised ESR
- Phase 2: Euthyroid
- Phase 3: Hypothyroidism
- Phase 4: Thyroid structure and function normalizes
What is the significance of a TSH level > 10 mU/L?
Consider offering levothyroxine if on 2 separate occasions 3 months apart
What does juvenile idiopathic arthritis (JIA) describe?
Arthritis occurring in someone less than 16 years old lasting more than 6 weeks
What are the three types of juvenile idiopathic arthritis (JIA)?
- Systemic onset
- Polyarticular
- Pauciarticular
What is a key feature of pauciarticular JIA?
Joint pain and swelling in medium sized joints
What is a characteristic feature of systemic onset JIA?
Salmon-pink rash
What investigations may be positive in juvenile idiopathic arthritis?
ANA may be positive, especially in oligoarticular JIA
What is rheumatoid factor typically in juvenile idiopathic arthritis?
Usually negative
What is an accidental injury?
An injury resulting from an unintentional event
Accidental injuries can include falls, car accidents, and other unforeseen incidents.
What is a non-accidental injury?
An injury resulting from intentional harm or abuse
Non-accidental injuries are often associated with child abuse or domestic violence.
What are coagulation disorders?
Disorders that affect the blood’s ability to clot properly
Coagulation disorders can lead to excessive bleeding or thrombosis.
What is haemophilia?
A genetic disorder that impairs the body’s ability to make blood clots
It is typically inherited and affects mostly males.
What is von Willebrand’s disease?
A bleeding disorder caused by a deficiency of von Willebrand factor
This factor is important for platelet adhesion.
What is liver disease?
A range of conditions that affect the liver’s function and health
Liver disease can lead to complications in blood coagulation.
What is thrombocytopaenia?
A condition characterized by abnormally low levels of platelets in the blood
Thrombocytopaenia can result in increased bleeding risk.
What does ITP stand for?
Immune Thrombocytopaenic Purpura
ITP is an autoimmune disorder that leads to low platelet counts.
What is acute lymphoblastic leukaemia?
A type of cancer that affects the blood and bone marrow
It is characterized by the overproduction of immature white blood cells.
What is meningococcal septicaemia?
A severe bacterial infection that can lead to sepsis
It is caused by the Neisseria meningitidis bacteria.
What does TAR stand for in medical terms?
Thrombocytopaenia with Absent Radius
TAR is a congenital condition that affects limb development and platelet levels.
What is a congenital infection?
An infection that is present at birth
Congenital infections can affect fetal development and lead to various health issues.
