Paediatrics 2 ( Opth, Resp, ENT, Genetics, Endocrine) Flashcards

1
Q

Explain the Hypothalamic-Pituitary Gonadal Axis?

A
  1. Hypothalamus = release GnRH
  2. Anterior pituitary gland = FSH and LH
  3. acts on testes and Ovaries
  4. Sex hormone action
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2
Q

what is the first sign of puberty for males and females?

A

Females = breast buds 8-13 yrs

Males = testicular enlargement 9-14 yrs

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3
Q

What are the different categories for delay in puberty causes?

A

Tertiary = problem in hypothalamus

Secondary = problem in pituitary

Primary = problem in gonads

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4
Q

Define: Klinefelter syndrome

A

male has an additional X chromosome making them 47 XXY

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5
Q

Presentation: Kleinfelder syndrome

A

appear as normal males until puberty

Taller height
Wider hips
Gynaecomastia
Weaker muscles
Small testicles
Reduced libido
Shyness
Infertility
Subtle learning difficulties (particularly affecting speech and language)

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6
Q

Management: Klinefelter syndrome

A

No cure

  • Testosterone injections = improve many of the symptoms
  • Advanced IVF techniques have the potential to allow fertility
  • Breast reduction surgery for cosmetic purposes

Multidisciplinary team input:

  • Speech and language therapy to improve speech and language
  • Occupational therapy to assist in day to day tasks
  • Physiotherapy to strengthen muscles and joints
  • Educational support where required for dyslexia and other learning difficulties
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7
Q

What does Klinefelter syndrome increase your risk of?

A
  • Breast cancer compared with other males (but still less than females)
  • Osteoporosis
  • Diabetes
  • Anxiety and depression

Infertility = can be treated with advanced IVF

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8
Q

Define: Turner syndrome

A

Female has a single X chromosome making them 45 X0

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9
Q

Presentation: Turner’s syndrome

A

Short stature
Webbed neck
Broad chest with widely spaced nipples

High arching palate
Downward sloping eyes with ptosis
Cubitus valgus (elbow when extended is exaggerated away from the body)
Underdeveloped ovaries with reduced function
Late or incomplete puberty
Most women are infertile

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10
Q

What are the effects of Turner’s syndrome on prenatal, neonatal, adults and fertility?

A

Prenatal: increased nuchal translucency

Neonatal: Lymphoedema

Cardiac: Aortic coarctation

Fertility: dysplastic ovaries (risk of malignancy)

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11
Q

What are seem associated conditions with Turner’s syndrome?

A

Recurrent otitis media
Recurrent urinary tract infections
Coarctation of the aorta
Hypothyroidism
Hypertension
Obesity
Diabetes
Osteoporosis
Various specific learning disabilities

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12
Q

Management: Turner’s syndrome

A

No cure

Growth hormone therapy = can be used to prevent short stature

Oestrogen and progesterone replacement = can help establish female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis

Fertility treatment = can increase the chances of becoming pregnant

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13
Q

What are the most common causes of primary hypogonadism?

A

Males = Klinefelter’s syndrome

Both = chemo/radiotherapy
Galactosemia
Trauma/surgery

Females = Turner’s syndrome

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14
Q

What are the most common causes of secondary + tertiary hypogonadism?

A

Intracranial tumours
Chemotherapy / Radiotherapy
Congenital enzyme / receptor mutations
Prader-Willi syndrome

Sport
Eating disorders
Malnutrition
Chronic disease
Marijuana

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15
Q

What are the 2 types of hypogonadism?

A

lack of sex hormones, oestrogen and testosterone

  1. Hypogonadotrophic hypogonadism = deficiency of LH and FSH
  2. hypergonadotrophic hypogonadism = lack of response to LH and FSH by the gonads
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16
Q

What are the causes of hypogonadotrophic hypogonadism?

A

Abnormal functioning of hypothalamus or pituitary gland due to:

  • Previous damage to the hypothalamus or pituitary, for example by radiotherapy or surgery for previous cancer
  • Growth hormone deficiency
  • Hypothyroidism
  • Hyperprolactinaemia (high prolactin)
  • Serious chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease)
  • Excessive exercise or dieting can delay the onset of menstruation in girls
  • Constitutional delay in growth and development is a temporary delay in growth and puberty without underlying physical pathology
  • Kallman syndrome
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17
Q

What are the causes of hypergonadotrophic hypogonadism?

A

Gonads fail to respond to stimulation so increasing amounts of LH and FSH are produced by pituitary (no negative feedback)

  • Previous damage to the gonads (e.g. testicular torsion, cancer or infections, such as mumps)
  • Congenital absence of the testes or ovaries
  • Kleinfelter’s Syndrome (XXY)
  • Turner’s Syndrome (XO)
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18
Q

Define: Kallman syndrome

A

genetic condition causing hypogonadotrophic hypogonadism
- resulting in failure to start puberty
- associated with reduced or absent sense of smell (anosmia)

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19
Q

Investigations: hypogonadism

A

No evidence of puberty in a girl aged 13 or a boy aged 14

initial:
- Full blood count and ferritin for anaemia
- U&E for chronic kidney disease
- Anti-TTG or anti-EMA antibodies for coeliac disease

Hormonal blood tests:
- Early morning serum FSH and LH (the gonadotropins). These will be low in hypogonadotrophic hypogonadism and high in hypergonadotrophic hypogonadism.
- Thyroid function tests
- Growth hormone testing. - Insulin-like growth factor I is often used as a screening test for GH deficiency.
- Serum prolactin

Genetic testing

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20
Q

What imaging investigations can be done for hypogonadism?

A

Xray of the wrist = to assess bone age and inform a diagnosis of constitutional delay

Pelvic ultrasound = in girls to assess the ovaries and other pelvic organs

MRI = of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome

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21
Q

Management: hypogonadism

A

treat underlying condition
- replacement sex hormones can be used to induce puberty under guidance

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22
Q

Define: precocious puberty

A

Puberty at an abnormally young age

Girls before 8 yrs
Boys before age 9

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23
Q

What are the 2 types of precocious puberty?

A
  1. Central precocious puberty ‘true’
    - gonadotrophin dependent types
    - premature activation of hypothalamic pituitary gonadal
  2. Peripheral/ pseudo precocious puberty
    - independent of gonadotrophin release
    - increased production of female or male hormones
    - oestrogen and testosterone high, FSH and LH suppressed
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24
Q

What are the causes of central precocious puberty?

A
  1. idiopathic 80% of girls and 40% of boys
  2. abnormalities of CNS
    - tumours
    - CNS trauma or injury
    - harartomas og hypothalamus
    - congenital disorders e.g. hydrocephalus
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25
what are the causes of peripheral precocious puberty?
- congenital adrenal hyperplasia - tumours - Mc-Cune Albright sundrome - Sliver-russell syndrome - testotoxicosis - severe hypothyroidism - exogenous oestrogen/androgen exposure
26
Investigations: precocious puberty
1. measure levels of sex steroid 2. Gonatrophins = LH and FSH 3. TFTs 4. adrenal steroid precursors 5. HCG 6. urinary 17-ketosteroids imaging - pelvic USS - x-rays = check bone age
27
Management: precocious puberty
surgery = remove tumours medical - GnHR agonists - glucocorticoid = for CAH - testolactone = aromatase inhibitor - tamoxifen
28
What are the different types of diabetes?
- type 1 - type 2 - MODY = maturity onset diabetes of the young, mutation - neonatal = under 6 months - Wolfram = optic atrophy + deafness - Gestational diabetes - LADA = latent autoimmune diabetes in adults - others = include secondary causes such as CF related diabetes, thalassaemia
29
What are the risk factors of type 1 diabetes?
- family history - genetics - geography - age
30
What are the main features of type 1 diabetes?
- polyuria - polydipsia - weight loss - tiredness (toilet, tired, thirsty, thinner)
31
how to diagnose type 1?
- usually acute presentation via GP or ED - must be same day referral to hospital - may present compensating or in DKA
32
What are the features of type 2 in children?
- incidence rising - very aggressive and worse prognosis than T1 - at presentation 44% have hypertension + 25% kidney disease
33
What are the risk factors for type 2 diabetes in children?
- obesity - girls - non-white ethnicity - deprivation
34
What is the pathophysiology of type 2?
The response to insulin is diminished, producing insulin resistance, initially countered by an increase in insulin production to try and maintain glucose homeostasis. (body stops reacting to insulin)
35
Investigations: diabetes to diagnose diabetes?
Symptoms PLUS random venous plasma glucose concentration >11.1 m/mol OR a fasting plasma glucose con >7 m/mol OR 2 hr plasma glucose conc >11.1 2 hrs after 75g anhydrous glucose in an OGTT pre diabetes for T2 42-48 hbA1c
36
Management: Type 1
insulin treatment (long acting and rapid acting for meals) - pen therapy is usual initial treatment - fixed doses to start with and then carb counted meals - insulin sensitivity factor for correction doses
37
Define: DKA
not producing or injecting adequate insulin - cells have no glucose so start producing ketones as fuel
38
Presentation: T1 in DKA
- polydipsia - polyuria - rapid breathing - lethargic - nausea and vomiting - abdominal pain - hyperventilation - dehydration - reduced level of consciousness
39
What are the 3 things to diagnose DKA?
1. Hyperglycaemia (i.e. blood glucose > 11 mmol/l) 2. Ketosis (i.e. blood ketones > 3 mmol/l) 3. Acidosis (i.e. pH < 7.3)
40
What are the scales of severity of DKA?
MILD – pH < 7.3 or plasma bicarbonate <15 mmol/l MODERATE – pH <7.2 or plasma bicarbonate < 10 mmol/l SEVERE – pH < 7.1 or plasma bicarbonate < 5 mmol/l One to one nursing or HDU if under 2 years or severe DKA
41
What might a DKA blood gas look like?
pH 7.06 pCO2 2.8 BE – 15 HC03 13
42
management: DKA
- fluids first to rehydrate - insulin (to switch off ketone production) -monitor glucose hourly - monitor electrolytes esp K= and ketones - very strict fluid balance - hourly neuro obs
43
What are the complication of DKA?
cerebral oedema shock hypokalaemia aspiration thrombus
44
Management: T2
1. Lifestyle – physical activity, sleep, screentime 2. Metformin +/- Insulin therapy 3. Consideration of GLP- 1 agonists – Liraglutide (>10 years), Semaglutide (> 18 years) 4. Diet - Calorie / carb reduction – weight loss
45
What are the signs of autonomic hypoglycaemic?
Irritable Hungry Shaky Anxious Sweaty Palpitations Pallor
46
What are the signs of neuroglycopenic hypoglycaemia?
(severe - lack of glucose in brain) Confused Drowsy Hearing or visual problems Headache Slurred speech Unusual behaviour / moodiness Coma Seizures
47
Management: hypoglycaemia
mild - rapid acting glucose e.g. lucozade - slower acting carbs e.g. biscuits, toast severe (impaired consciousness) - IV dextrose - IM glucagon
48
What are the complications of diabetes?
Immediate / short term: hypo or hyperglycaemia DKA Long term: Microvascular – albuminuria and retinopathy Macrovascular – hypertension and hypercholesterolaemia Blindness, kidney failure, heart disease, stroke, and amputations Lipo0hypertrophy (injection sites Diabetes Burnout Diabulimia Self harm with insulin High carb loads and insulin therapy leading to insulin resistance and high BMI, increasing metabolic risk
49
Define: William's syndrome
deletion of genetic material on one copy of chromosome 7, resulting in the person only having a single copy of the genes on this deleted region (on the other chromosome 7) - random deletion
50
Presentation: William syndrome
Broad forehead Starburst eyes (a star-like pattern on the iris) Flattened nasal bridge Long philtrum Wide mouth with widely spaced teeth Small chin Very sociable trusting personality Mild learning disability
51
What conditions are associated with William's syndrome?
Supravalvular aortic stenosis (narrowing just above the aortic valve) Attention-deficit hyperactivity disorder Hypertension Hypercalcaemia
52
Management: William's syndrome
No cure - physio - OT - speech and language therapist - ECG + BP monitoring = aortic stenosis and hypertension - low calcium diet
53
When is hearing routinely tested?
- Newborn Hearing Screening Programme = aims at birth to identify >40dBHL moderate, severe and profound deafness Misses mild losses or sloping losses - School Screening Programme = When start full time school
54
What are the common causes of hearing loss?
Congenital Maternal rubella or cytomegalovirus infection during pregnancy Genetic deafness can be autosomal recessive or autosomal dominant Associated syndromes, for example Down’s syndrome Perinatal Prematurity Hypoxia during or after birth After birth Jaundice Meningitis and encephalitis Otitis media or glue ear Chemotherapy
55
What high risk groups are monitored for hearing loss?
- Cystic Fibrosis/ Chemotherapy before and after treatments due medication - CMV (Cytomegalovirus) - Head Trauma - Cleft lip/palate - Downs Syndrome
56
What are the types of hearing loss?
Conductive Hearing Loss Sensori-neural Hearing Loss Mixed Hearing Loss
57
What are the features and causes of conductive hearing loss?
A problem in the middle ear (to do with ear drum not he nerves) Glue ear Ear wax Middle ear infection perforated eardrum abnormality of the outer ear eustachian tube dysfunction
58
Management: conductive hearing loss
Most conductive losses will resolve themselves over time ENT may insert grommets Hearing Aids may be offered for persistent losses if parents decline surgery In the case of permanent conductive losses, Bone Anchored Hearing Aid (BAHA) may be fitted
59
What are the features of sensorineural hearing loss?
- usually permanent
60
Management: sensorineural hearing loss
- usually managed by hearing aids - The aim is to raise the level of hearing so that as much speech is as audible as possible - In the case of profound hearing losses, who cannot receive sufficient benefit from hearing aids, cochlear implants may be recommended.
61
Management: mixed hearing loss
The conductive element will be addressed first. A hearing aid will be issued to help make all parts of speech audible, especially the high frequencies.
62
What are the different subjective hearing losses for children?
Distraction Test- 6-18 Months Visual Reinforcement Audiometry- 6-30 Months Performance Testing- 24 Months+ Pure Tone Audiometry- 3 years+
63
What are the types of foreskin abnormalities?
- pathological non- retractible foreskin BXD - can also have normal non-retractible foreskin - hypospadias
64
What is hypospadias?
- urethra is lower down - foreskin missing on the underneath of the penis - penis curves when erected - undescended testes Mx = surgery + sometimes combined with circumcision
65
Define: congenital adrenal hyperplasia
- congenital deficiency of 21 hydroxyls enzyme - enzyme is responsible for converting progesterone into aldosterone, cortisol and makes testosterone - underproduction of cortisol + aldosterone (as no enzyme) - over production of androgens form birth (this doesn't need the enzyme so more testosterone is produced) autosomal recessive
66
Presentation: severe congenital adrenal hyperplasia
Females present with ambiguous genitalia = enlarged clitoris More severe present with - hyponatraemia - hyperkalaemia - hypoglycaemia
67
presentation in mild congenital adrenal hyperplasia?
Female patients: Tall for their age Facial hair Absent periods Deep voice Early puberty Male patients: Tall for their age Deep voice Large penis Small testicles Early puberty
68
Management: congenital adrenal hyperplasia
- Cortisol replacement = hydrocortisone, similar to treatment for adrenal insufficiency - Aldosterone replacement = usually with fludrocortisone - Female patients with “virilised” genitals may require corrective surgery
69
Define: hydrocele
collection of fluid within the tunics vaginalis that surrounds the testes
70
What are the
simple hydrocele = common in newborns, fluid is trapped in tunica vaginalis - fluid gets reabsorbed over time Communicating hydrocele - tunic vaginalis around the testicle is connected with the peritoneal cavity via a pathway called the processes vaginalis > so fluid can travel from peritoneal cavity into hydrocele
71
Investigation: hydrocele
Transillumination not as effective on children Feel if there is a gap between the top of the testes and the inguinal canal 'can get above it' (compared to a hernia where its coming out from the inguinal ring so no gap)
72
What are the key differential diagnoses of a scrotal or inguinal swelling in a neonate?
Hydrocele Partially descended testes Inguinal hernia Testicular torsion Haematoma Tumours (rare)
73
Management: hydrocele
USS simple hydroceles resolve on their own within 2 yrs Communicating = surgical operation to remove or lager the connection between peritoneal cavity and hydrocele
74
Its it normal for children to have enlarged lymph nodes and what are the red flags?
- normal in children as exposed to so many infections and illnesses red flags: >2cm inflamed >2/52 growing
75
What are the features of Thyroglossal cyst?
- moves when sticks tongue out - lump in centre of neck - embryological cause - surgical removal = remove centre part of hyoid bone to prevent recurrence
76
What is a Branchial cleft remanants?
- embryological cause - lined with resp epithelium so secret a white fluid - surgery to remove them as can cause infection
77
What are dermoid cysts?
- fold of skin under the surface - embryological - continue to grow - remove so they don't keep enlarging if on the midline = need CT or MRI first to ensure not involved with CSF
78
What is granuloma and omphalitis?
- infection of the umbilicus - lay over the umbilical vein > portal vein - can spread into liver and then into systemic system
79
What are the features of an umbilical hernia?
- no worry because bowel does not get trapped - most resolve by 4 yrs of age
80
Are undescended testes common and are they palpable?
in 5% of boys most resolve by 6 months 80% palpable impalpable - never developed - intrabdominal = cannot examine, - ectopic
81
What are the risk factors for undescended testes?
Family history of undescended testes Low birth weight Small for gestational age Prematurity Maternal smoking during pregnancy
82
Management: undescended testes
- watch + wait for most till 6 months - surgery = orchidopexy between 6-12 months
83
Define: Downs syndrome
3 copies of chromosome 21 - trisomy 21
84
Presentation: Downs syndrome
Hypotonia (reduced muscle tone) Brachycephaly (small head with a flat back) Short neck Short stature Flattened face and nose Prominent epicanthic folds Upward sloping palpebral fissures Single palmar crease
85
What are the complications of Downs syndrome?
- Learning disability - Recurrent otitis media - Deafness. Eustachian tube abnormalities lead to glue ear and conductive hearing loss. - Visual problems such myopia, strabismus and cataracts - Hypothyroidism occurs in 10 – 20% - Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot - Atlantoaxial instability - Leukaemia is more common in children with Down’s - Dementia is more common in adults with Down’s
86
What antenatal screening is available for Down's syndrome?
Offered to all women to decide whether the women should receive more invasive tests for a definitive diagnosis 1. Combined Test - 11-14 weeks - USS measure nuchal translucency = thickness of back of neck DS >6mm - Maternal blood tests = beta- human chorionic gonadotrophin (beta-HCG). A higher result indicates a greater risk. = Pregnancy‑associated plasma protein‑A (PAPPA). A lower result indicates a greater risk. 2. triple test 14 - 20 weeks - Beta-HCG = HIGHER result indicates greater risk. - Alpha-fetoprotein (AFP) = LOWER result indicates a greater risk. - Serum oestriol (female sex hormone) = LOWER result indicates a greater risk. 3. Quadruple Test 14 -20 weeks - an additional test to add on to triple test - Inhibin- A test = HIGHER result indicates greater risk
87
What antenatal testing is available for Downs Syndrome?
Screening test provide a risk score for the foetus having Down's syndrome = risk greater than 1 in 150 - woman is offered amniocentesis or chorionic villus sampling 1. Chorionic villus sampling (CVS) - involves an ultrasound guided biopsy of the placental tissue. - This is used when testing is done earlier in pregnancy (before 15 weeks). 2. Amniocentesis - involves ultrasound guided aspiration of some amniotic fluid using a needle and syringe. - This is later in pregnancy once there is enough amniotic fluid to make it safer to take a sample.
88
What non-invasive prenatal testing is offered for Down's syndrome?
Blood test - contains fragments of DNA some of which will come from the placenta tissue - can be analysed and detect conditions not definitive
89
Management: Down's syndrome
Multidisciplinary team Occupational therapy Speech and language therapy Physiotherapy Dietician Paediatrician GP Health visitors Cardiologist for congenital heart disease ENT specialist for ear problems Audiologist for hearing aids Optician for glasses Social services for social care and benefits Additional support with educational needs Charities such as the Down’s Syndrome Association
90
What routine investigations are performed for children with Down's syndrome?
- Regular thyroid checks (2 yearly) - Echocardiogram to diagnose cardiac defects - Regular audiometry for hearing impairment - Regular eye checks
91
Define: Edwards syndrome
Trisomy 18 (extra chromosome) - varies in severity and affects all areas of the body resulting in dysmorphic features and learning disability - 'rocker bottom feet'
92
Define: Patau syndrome
trisomy 13 - varies in severity - dysmorphic features - learning disability - rocker bottom feet = soles of the feet convex (rounder outwards) in shape
93
Define: fragile X syndrome
- mutation in FMR1 (fragile X mental retardation 1) gene on the X chromosome - plays a role in cognitive development in the brain - x linked
94
What are the features of Fragile X syndrome?
delay in speech language development. Intellectual disability Long, narrow face Large ears Large testicles after puberty Hypermobile joints (particularly in the hands) Attention deficit hyperactivity disorder (ADHD) Autism Seizures
95
Management: Fragile X syndrome
no cure Multidisciplinary team - supportive + treat symptoms - support learning disability - manage autism + ADHD - treat seizures
96
Define: Cystic fibrosis
Autosomal recessive constino affecting mucus glands - genetic mutation of the cystic fibrosis transmembrane conductance regulatory gene on chromosome 7 - MC variant = delta-F508 mutation > codes for cellular channels
97
What is the pathophysiology of CF?
- thick pancreatic biliary secretions that cause blockage of the ducts, resulting in a lack of digestive enzymes such as pancreatic lipase in the digestive tract - low volume thick airway secretions = reduce airway clearance resulting in bacterial colonisation and susceptibility to airway infections - congenital bilateral absence of the vas deferens in males = patients have healthy sperm but no way fro sperm to travel from testes to the ejaculate
98
Presentation: cystic fibrosis
Symptoms Chronic cough Thick sputum production Recurrent respiratory tract infections Loose, greasy stools (steatorrhoea) due to a lack of fat digesting lipase enzymes Abdominal pain and bloating Parents may report the child tastes particularly salty when they kiss them, due to the concentrated salt in the sweat Poor weight and height gain (failure to thrive) Signs Low weight or height on growth charts Nasal polyps Finger clubbing Crackles and wheezes on auscultation Abdominal distention
99
Investigations: cystic fibrosis
- Newborn blood spot testing = is performed on all children shortly after birth and picks up most cases - The sweat test = is the gold standard for diagnosis - Genetic testing = for CFTR gene can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth
100
How does the sweat test for CF work?
1. patch of skin is chosen on arm or leg 2. pilocarpine is applied to the skin on this patch 3. electrodes placed on either side of patch 4. current passed between them and causes skin to sweat 5. sweat sent to lab fro testing for chloride concentration chloride concentration for CF >60 mmol/l
101
What microbial colonisers most commonly affect CF patients?
1. Staph aureus = LT prophylactic antibiotics 2. Pseudomonas = difficult to treat as can be resistant (avoid contact with other children with CF)
102
Management: cystic fibrosis
- Chest physiotherapy = several times a day is essential to clear mucus and reduce the risk of infection and colonisation - Exercise = improves respiratory function and reserve, and helps clear sputum - High calorie diet = is required for malabsorption, increased respiratory effort, coughing, infections and physiotherapy - CREON tablets = to digest fats in patients with pancreatic insufficiency (these replace the missing lipase enzymes) - Prophylactic flucloxacillin tablets = to reduce the risk of bacterial infections (particularly staph aureus) - Treat chest infections when they occur - Bronchodilators = such as salbutamol inhalers can help treat bronchoconstriction - Nebulised DNase = (dornase alfa) is an enzyme that can break down DNA material in respiratory secretions, making secretions less viscous and easier to clear - Nebulised hypertonic saline - Vaccinations = including pneumococcal, influenza and varicella - lung transplant = end stage resp failure - liver transplant = liver failure - fertility treatment = testicular sperm extraction for infertile males - genetic counselling
103
What monitoring is there for CF?
- managed in clinic every 6 months - require regular monitoring of their sputum for colonisation of bacteria - screening for diabetes, osteoporosis, vitamin D deficiency and liver failure
104
What is the prognosis for CF?
Median life expectancy of 47 yrs - 90% of patients with CF develop pancreatic insufficiency - 50% of adults with CF develop cystic fibrosis-related diabetes and require treatment with insulin - 30% of adults with CF develop liver disease - Most males are infertile due to absent vas deferens
105
Define: Angelman syndrome
genetic condition caused by loss of function of UBE3A gene - specifically the copy of the gene from the mother - deletion on chromosome 15 = 2 copies of chromosome 15 are contributed by the father with no copy from the mother
106
presentation: angelman syndrome
Delayed development and learning disability Severe delay or absence of speech development Coordination and balance problems (ataxia) * Fascination with water * Happy demeanour Inappropriate laughter Hand flapping Abnormal sleep patterns Epilepsy Attention-deficit hyperactivity disorder Dysmorphic features Microcephaly Fair skin, light hair and blue eyes * Wide mouth with widely spaced teeth
107
Management: Angelman syndrome
No cure Parental education Social services and support Educational support Physiotherapy Occupational therapy Psychology CAMHS Anti-epileptic medication where required
108
Define: Prader Willi syndrome
genetic condition caused by loss of functional genes on the proximal arm of the chromosome 15 inherited form the father - deletion or both copies of chromosome 15 inherited from mother
109
What are the features Prader Willi syndrome?
* Constant insatiable hunger that leads to obesity * Poor muscle tone as an infant (hypotonia) Mild-moderate learning disability Hypogonadism Fairer, soft skin that is prone to bruising Mental health problems, particularly anxiety Dysmorphic features Narrow forehead Almond shaped eyes Strabismus Thin upper lip Downturned mouth
110
Management: Prader willi syndrome
no cure - carefully limit access to food e.g. lock on cupboards/fridge - growth hormone = to improve muscle development and body composition Dieticians play a very important role Education support Social workers Psychologists or psychiatrists Physiotherapists Occupational therapists
111
Define: Noonan syndrome
genetic condition - autosomal dominant
112
What are the associated conditions with Noonan syndrome?
- Congenital heart disease = particularly pulmonary valve stenosis, hypertrophic cardiomyopathy and ASD - Cryptorchidism (undescended testes) can lead to infertility. Fertility is normal in women. - Learning disability - Bleeding disorders - Lymphoedema - Increased risk of leukaemia and neuroblastoma
113
Presentation: noonan syndrome
Short stature Broad forehead Downward sloping eyes with ptosis Hypertelorism (wide space between the eyes) Prominent nasolabial folds Low set ears Webbed neck Widely spaced nipples
114
Management: Noonan syndrome
no cure multidisciplinary team Main complication = congenital heart disease > heart surgery
115
What is a wheeze?
- whistling sound - on expiration - polyphonic noise - reflects narrowing in medium to small airways
116
What is stridor?
- inspiration - harsh, high pitched noise e.g. in croup
117
What are crepitations?
alveoli popping open reflecting increased secretions
118
What are the reasons for recurrently wheezing children?
persistent infantile wheeze - small airways, - smoking, - viruses Viral episodic wheeze - no interval symptoms - URI triggered Asthma - persistent symptoms - FH - atopic Other causes
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Define: virally induced wheeze
acute wheezy illness caused by a viral infection - small children <3yrs have small airways that when encounter a virus develop inflammation and oedema, swelling the airways and restricting space for air to flow - and tiggers smooth muscles to constrict
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What are the difference between virally induced wheeze and asthma?
Presenting before 3 years of age No atopic history Only occurs during viral infections
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Presentation: virally induced wheeze
viral illness for 1-2 days preceding Shortness of breath Signs of respiratory distress Expiratory wheeze throughout the chest +/- decreased air entry
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Management: virally induced wheeze
Airway: Oxygen Breathing Salbutamol inhalers or nebulisers Dexamethasone if mod-severe Circulation If severe/life-threatening for: IV access IV hydrocortisone IV Magnesium +/- IV Aminophylline +/- IV salbutamol
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Define: bronchiolitis
inflammation and infection in the bronchioles - caused by a virus = respiratory syncytial virus MC
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Presentation: bronchiolitis
children under 1 yr - Coryzal symptoms = running or snotty nose, sneezing, mucus in throat and watery eyes. - Signs of respiratory distress - Dyspnoea (heavy laboured breathing) - Tachypnoea (fast breathing) - Poor feeding - Mild fever (under 39ºC) - Apnoeas = episodes where the child stops breathing - Wheeze and crackles on auscultation
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What are signs of respiratory distress?
- Raised respiratory rate - Use of accessory muscles of breathing, such as the sternocleidomastoid, abdominal and intercostal muscles - Intercostal and subcostal recessions - Nasal flaring - Head bobbing - Tracheal tugging - Cyanosis (due to low oxygen saturation) - Abnormal airway noises
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What is grunting?
exhaling with the glottis partially closed to increase positive end-expiratory pressure
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What are the reasons to admit child to hospital?
- Aged under 3 months or any pre-existing condition such as prematurity, Downs syndrome or cystic fibrosis - 50 – 75% or less of their normal intake of milk - Clinical dehydration - Respiratory rate above 70 - Oxygen saturations below 92% - Moderate to severe respiratory distress, such as deep recessions or head bobbing - Apnoeas - Parents not confident in their ability to manage at home or difficulty accessing medical help from home
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Investigations: bronchiolitis
Nasopharyngeal aspirate for RSV and other resp viruses
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Management: bronchiolitis
supportive management - ensuring adequate intake = orally/NG tube/IV fluids - saline nasal drops and nasal suctioning = clear secretions - supplementary oxygen = if O2 <92% - ventilatory support if required
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What ventilatory support can be offered?
1. high flow humidified oxygen = delivers air and oxygen continuously and adds positive end-expiratory pressure to maintain the airway at the end of expiration 2. continuous positive airway pressure 3. intubation and ventilation = inserting an endotracheal tube into the trachea to fully control ventilation
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How to assess and signs of poor ventilation?
- capillary blood gases signs: - rising pCO2 = airways have collapsed and can't clear waste CO2 - falling pH = CO2 buildup, respiratory acidosis > type 2 resp failure
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What prevention management is given for bronchiolitis?
Palivizumab - monoclonal antibody that targets RSV - monthly injection given as prevention against bronchiolitis - given to high risk babies e.g. premature, congenital heart disease - provides passive protection - levels of circulating antibodies decrease over time
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What presentation would suggest a diagnosis of asthma?
- Episodic symptoms with intermittent exacerbations - Diurnal variability, typically worse at night and early morning - Dry cough with wheeze and shortness of breath - Typical triggers - A history of other atopic conditions such as eczema, hayfever and food allergies - Family history of asthma or atopy - Bilateral widespread “polyphonic” wheeze heard by a healthcare professional - Symptoms improve with bronchodilators
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How to diagnose asthma?
not diagnosed until at least 2/3 yrs - Spirometry with reversibility testing (in children aged over 5 years) - Direct bronchial challenge test with histamine or methacholine - Fractional exhaled nitric oxide (FeNO) - Peak flow variability measured by keeping a diary of peak flow measurements several times a day for 2 to 4 weeks
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Management: chronic asthma in <5yrs
1. Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required 2. Add a low dose corticosteroid inhaler or a leukotriene antagonist (i.e. oral montelukast) 3. Add the other option from step 2. 4. Refer to a specialist
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Management: chronic asthma 5-12 yrs
1. Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required 2. Add a regular low dose corticosteroid inhaler 3. Add a long-acting beta-2 agonist inhaler (e.g. salmeterol). Continue salmeterol only if the patient has a good response. 4. Titrate up the corticosteroid inhaler to a medium dose. Consider adding: - Oral leukotriene receptor antagonist (e.g. montelukast) - Oral theophylline 5. Increase the dose of the inhaled corticosteroid to a high dose. 6. Referral to a specialist. They may require daily oral steroids.
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management: chronic asthma >12 yrs
same as adults 1. short-acting beta 2 agonist inhaler (e.g. salbutamol) 2. Add a regular low dose corticosteroid inhaler 3. Add a long-acting beta-2 agonist inhaler (e.g. salmeterol). Continue salmeterol only if the patient has a good response. 4. Titrate up the corticosteroid inhaler to a medium dose. Consider a trial of an oral leukotriene receptor antagonist (i.e. montelukast), oral theophylline or an inhaled LAMA (i.e. tiotropium). 5. Titrate the inhaled corticosteroid up to a high dose. Combine additional treatments from step 4, including the option of an oral beta 2 agonist (i.e. oral salbutamol). Refer to specialist. 6. Add oral steroids at the lowest dose possible to achieve good control under specialist guidance.
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What is the technique for using an inhaler without a spacer?
Remove the cap Shake the inhaler (depending on the type) Sit or stand up straight Lift the chin slightly Fully exhale Make a tight seal around the inhaler between the lips Take a steady breath in whilst pressing the canister Continue breathing for 3 – 4 seconds after pressing the canister Hold the breath for 10 seconds or as long as comfortably possible Wait 30 seconds before giving a further dose Rinse the mouth after using a steroid inhaler
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What is the technique for using an inhaler with a spacer?
Assemble the spacer Shake the inhaler (depending on the type) Attach the inhaler to the correct end Sit or stand up straight Lift the chin slightly Make a seal around the spacer mouthpiece or place the mask over the face Spray the dose into the spacer Take steady breaths in and out 5 times until the mist is fully inhaled
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presentation: acute asthma
Progressively worsening shortness of breath Signs of respiratory distress Fast respiratory rate (tachypnoea) Expiratory wheeze on auscultation heard throughout the chest The chest can sound “tight” on auscultation, with reduced air entry A silent chest is an ominous sign = airways so tight so not possible to take in enough oxygen
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Management: acute asthma
- oxygen of needed - betas agonist, ipratopium bromide + - steroids = prednisolone or dexamethasone - IV salbutamol bolus - aminophylline/MgSO4/ salbutamol infusion
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What is the criteria for moderate asthma exacerbation?
Peak flow >50% predicted Normal speech No features listed across
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What is the criteria for severe asthma exacerbation?
peak flow <50% predicted saturations <92% unable to complete sentences in one breath signs of respiratory distress resp rate: > 40 in 1-5 years > 30 in > 5 years Heart rate > 140 in 1-5 years > 125 in > 5 years
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What is the criteria for a life threatening asthma exacerbation?
peak flow <33% predicted saturations <92% exhaustion and poor respiratory effort hypotension silent chest cyanosis altered consciousness/confusion
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Management: viral induced wheeze or asthma
1. Supplementary oxygen = if required (i.e. oxygen saturations less than 94% or working hard) 2. Bronchodilators (e.g. salbutamol, ipratropium and magnesium sulphate) 3. Steroids to reduce airway inflammation: prednisone (orally) or hydrocortisone (intravenous) 4. Antibiotics only if a bacterial cause is suspected (e.g. amoxicillin or erythromycin)
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Management: moderate to severe asthma
1. Salbutamol inhalers via a spacer device: starting with 10 puffs every 2 hours 2. Nebulisers with salbutamol / ipratropium bromide 3. Oral prednisone (e.g. 1mg per kg of body weight once a day for 3 days) 4. IV hydrocortisone 5. IV magnesium sulphate 6. IV salbutamol 7. IV aminophylline intensive care unit, intubation and ventilation
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When to discharge a child after an asthma exacerbation?
well on 6 puffs 4 hourly of salbutamol - finish course of steroids - provide safety netting info - provide asthma action plan
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Define: croup
an acute infective respiratory disease affecting young children - 6 months to 2 yrs - URTI causing oedema in the larynx
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What is the cause of croup?
MC = parainfluenza virus - influenza - adenovirus - respiratory syncytial virus RSV diphtheria = epiglottis and has high mortality
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Presentation: croup
- Increased work of breathing - worsen at night - “Barking” cough, occurring in clusters of coughing episodes - Hoarse voice - Stridor - Low grade fever
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Management: Croup
managed at home with supportive treatment - fluids - rest - sit up - stay off school to avoid spreading infection oral dexamethasone = single dose in worse - oxygen - nebulised budesonide - nebulised adrenaline - intubation and ventilation
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Define: epiglottitis
inflammation and swelling of the epiglottis caused by infection - typically haemophiliac influenza type B - rare now due to vaccines - can swell and completely block airways
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presentation: epiglottitis
Patient presenting with a sore throat and stridor Drooling Tripod position, sat forward with a hand on each knee High fever Difficulty or painful swallowing Muffled voice Scared and quiet child Septic and unwell appearance
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Investigations: epiglottitis
- if acutely well no investigations need to be performed lateral x-ray of the neck - 'thumb sign' = soft tissue shadow that looks like a thumb pressed into the trachea - caused by oedematous and swollen epiglottis - and rule out foreign body
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Management: epiglottitis
emergency keep child calm so airway doesn't close further 1. alert senior paediatrician + anaesthetist 2. ensure airway is open - put tube down 3. intubation ready (may need to do a tracheostomy) 4. IV antibiotics e.g. ceftriaxone 5. steroids e.g. dexamethasone
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What respiratory infections are upper and lower tract?
upper - rhinitis - otitis media - pharyngitis - tonsillitis - laryngitis Lower - ‘bronchitis’ - croup - epiglottitis - tracheitis - bronchiolitis - pneumonia
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Define: pneumonia
an infection of the lung tissue - causes inflammation of the lung tissue and sputum filling the airway and alveoli - consolidation on CXR
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Presentation: pneumonia
Cough (typically wet and productive) High fever (> 38.5ºC) Tachypnoea Tachycardia Increased work of breathing Lethargy Delirium (acute confusion associated with infection)
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What presentation of pneumonia can indicate secondary sepsis?
Tachypnoea (raised respiratory rate) Tachycardia (raised heart rate) Hypoxia (low oxygen) Hypotension (shock) Fever Confusion
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What are the characteristics chest signs hear on auscultation of pneumonia?
- Bronchial breath sounds = harsh breath sounds that are equally loud on inspiration and expiration. These are caused by consolidation of the lung tissue around the airway. - Focal coarse crackles = caused by air passing through sputum similar to using a straw to blow into a drink. - Dullness to percussion = due to lung tissue collapse and/or consolidation.
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What are the causes of pneumonia?
bacterial: - Streptococcus pneumonia is most common Group A strep (e.g. Streptococcus pyogenes) Group B strep occurs in pre-vaccinated infants, often contracted during birth as it often colonises the vagina. Staphylococcus aureus. This causes typical chest xray findings of pneumatocoeles (round air filled cavities) and consolidations in multiple lobes. Haemophilus influenza particularly affects pre-vaccinated or unvaccinated children. Mycoplasma pneumonia, an atypical bacteria with extra-pulmonary manifestations (e.g. erythema multiforme). viral - Respiratory syncytial virus (RSV) MC - Parainfluenza virus - Influenza virus
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Investigations: pneumonia
CXR find causative organism: - sputum culture + throat swabs for bacterial cultures - viral PCR sepsis: - blood cultures capillary blood gas analysis = resp or metabolic acidosis + blood lactate
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Management: pneumonia
antibiotics 1. amoxicillin --> IV benzylpenicillin 2. add macrolide to cover atypical pneumonia 3. macrolides = penicillin allergy Oxygen Antipyretics
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What is the anatomy of the outer, middle and inner ear?
Outer cartilaginous and bony Middle: Bones of hearing Eustachian tube Promontory facial nerve chorda tympani Inner: hearing and balance organs (cochlea, utricle, saccule and vestibule)
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Define: Otitis media
An infection in the middle ear - space between the tympanic membrane and the inner ear - bacteria enters from the back of the throat through the Eustachian tube
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What are the main causes of otitis media?
MC = streptococcus pneumoniae Other common causes include: Haemophilus influenzae Moraxella catarrhalis Staphylococcus aureus
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Presentation: Otitis media
- ear pain - reduced hearing - fever - cough - sore throat can cause balance issues and vertigo tympanic membrane perforates = discharge
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Investigation: Otitis media
Otoscope - examination both ears and throat tympanic membrane will look: - bulging - red - inflamed
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Management: otitis media
most will resolve without antibiotics within 3 days prescribe antibiotics to patient with: - significant comorbidities - systemically unwell - immunocompromised - <2yrs with bilateral otitis media - discharge 1. amoxicillin for 5 days 2. erythromycin and clarithromycin Referral - <3 months with a temp >38
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What are the complications of otitis media?
Otitis medial with effusion Hearing loss (usually temporary) Perforated eardrum Recurrent infection Mastoiditis (rare) Abscess (rare)
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Define: otitis externa
Inflammation of the skin in the external ear canal - infection can be localised or diffuse - acute <3 weeks or chronic
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What causes otitis externa?
- swimming - trauma e.g. from cotton buds or earplugs - removing ear wax
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What are the bacterial causes of otitis externa?
Pseudomonas aeruginosa Staphylococcus aureus
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Presentation: otitis externa
Ear pain Discharge Itchiness Conductive hearing loss (if the ear becomes blocked) examination: Erythema and swelling in the ear canal Tenderness of the ear canal Pus or discharge in the ear canal Lymphadenopathy (swollen lymph nodes) in the neck or around the ear
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Management: otitis externa
Mild: Acetic acid 2% - can be used prophylactically before and after swimming Moderate - topical antibiotic and steroid e.g. Otomize ear spray Severe - oral antibiotics - discussion with ENT fungal = clotrimazole ear drops
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What is malignant otitis externa?
severe and life threatening - infection spreads to the bones surrounding the ear canal and skull - progresses to osteomyelitis of the temporal bone of the skull usually related to underlying risk factors - diabetes - immunocompromised medications - HIV
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Presentation: malignant otitis externa
- persistent headaches - severe pain - fever granulation tissue = adjunction between the bone and cartilage in the ear canal
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management: malignant otitis externa
emergency - Admission to hospital under the ENT team - IV antibiotics - Imaging (e.g., CT or MRI head) to assess the extent of the infection
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What are the complications of malignant otitis externa?
Facial nerve damage and palsy Other cranial nerve involvement (e.g., glossopharyngeal, vagus or accessory nerves) Meningitis Intracranial thrombosis Death
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Define: Glue ear
otitis media with effusion - middle ear becomes full of fluid causing a loss of hearing in that ear - if Eustachian tube is blocked causes ear sections to build up in the middle ear space
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Presentation: glue ear
- reduced hearing in that ear otoscope - dull tympanic membrane with air bubbles or a visible fluid level
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Management: glue ear
1. Referral to audiometry - establish diagnosis - extent of hearing loss 2. usually resolves without treatment within 3 months 3. Grommets - tiny tubes inserted into the tympanic membrane by an ENT surgeon - allows fluid form the middle ear to drain through the tympanic membrane to the ear canal - fall out within a year
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Define: cholesteatoma
an uncommon abnormal collection of skin cells inside your middle ear behind the tympanic membrane
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Management: cholesteatoma
keep ear dry and sage perforation - close it Mastoidectomy = Remove cholesteatoma while preserving hearing if possible or leaving scope for reconstruction
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What is choanal atresia?
- congenital condition - nasal passages are blocked by bone or tissue - causes breathing difficulties
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Management: choanal atresia
Surgery to make a hole through the bone or tissue blocking the nasal passages - put a nasal stent in th ehole
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What is the reason and location of nosebleeds?
AKA epistaxis - originate form Kiesselbach's plexus aka Little's area - Area of nasal mucosa at the front of the nasal cavity that contains a lot of blood vessels
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Triggers: nosebleeds
- nose picking - cold - vigorous nose blowing - trauma - changes in the weather unilateral
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Management: nosebleeds
resolve usually - sit up and tilt head forwards - squeeze soft part of nostrils together for 10-15 mins - spit any blood out rather than swallowing Recurrent/severe - nasal packing using nasal tampons or inflatable packs - nasal cautery using a silver nitrate stick
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Define: sinusitis
inflammation os the paranasal sinuses in the face - usually accompanied by inflammation of the nasal cavity = rhino sinusitis rare in children
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What are sinusitis like at birth?
maxillary sinuses - exist at birth - grows full size after second dentition Ethmoids - 2-3 cells at birth Frontals - rudimentary or absent at birth (develops by 7-8 yrs) Sphenoids - recognised at birth
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Define: periorbital cellulitis
medical emergency - URTI followed by a painful swollen eye
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Presentation: periorbital cellulitis
- proptosis - red colour vision = sign of optic nerve compromise - unilateral eye swelling and pain
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Management: periorbital cellulitis
- IV antibiotics - incision and drainage of abscess = open or endoscopic
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Define: laryngomalacia
part of the larynx above the vocal cords is structured in a way that allows it to cause partial airway obstruction - leads to chronic stridor on inhalation when the larynx flops across the airways as the infant breaths in
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Presentation: laryngomalacia
occurs in infants, peaks at 6 months - inspiratory stridor (harsh whistling sound, more prominent when feeding, lying on back) - cause difficulties with feeding
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Management: laryngomalacia
- problems resolves as larynx matures and grows - rare tracheostomy = insert tube through the front of the neck into the trachea bypassing the larynx
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Define: periorbital cellulitis
an eyelid and skin infection in front of the orbital septum
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Presentation: periorbital cellulitis
swollen red, hot skin
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Management: periorbital cellulitis
must differentiate from orbital cellulitis = (emergency refer to ophthalmology CT scan T = systemic antibiotics
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Investigation: squint
- inspect eye - corneal light reflex test (Hirschberg test) - cover test - test range of eye movement
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What are the red flags for a squint?
Limited abduction. Double vision. Headaches. Nystagmus (involuntary, repetitive, side-to-side oscillation of the eyes).
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management: squint
- corrective glasses - occlusion therapy = to treat lazy eye amblyopia - penalisation therapy = oral is deliberately blurred by drops to force them to use the other eye - eye exercises - surgery - botulinum toxin
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What are the different types of muscular dystrophy?
Duchenne muscular dystrophy (DMD) Becker muscular dystrophy (BMD) Other less common types of MD include: Emery-Dreifuss muscular dystrophy (humeroperoneal MD – affecting the arms and distal legs) Limb-girdle muscular dystrophy Facioscapulohumeral muscular dystrophy (affecting the face, scapula and arms)
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Aetiology: duchennes and Beckers musclar dystrophy
- x linked recessive - mainly affect males
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Presentation: muscular dystrophy
- progressive weakness = start tin proximally and moving distally with the lower limbs affected before upper - delayed motor milestones - waddling gait - faltering growth - fatigue DMD = present from 2yrs and at 12 most are in wheelchairs, death in 2nd or 3rd decade BMD = present later, more mild
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Investigations: muscular dystrophy
Serum creatine kinase - peak at age 2 and then steadily declines due to progressive muscle wasting - genetic analysis - muscle biopsy = analysis of dystrophin protein - electromyography - ECG + echo = cardiomyopathy - lung function test = restrictive lung disease secondary to muscle weakness
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Management: muscular dystrophy
intimal - education - offer screening to family - immunisations early - corticosteroids = prolong Childs ability to walk - vit D and calcium supplements = enhance bone health - physiotherapy = prevent development of contractors - orthoses = required to stabilise the knee,ankle and foot to prolong childs walking later stage - wheelchair - counselling - orthopaedic input - cardiac and respiratory surveillance
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Presentation: testicular torsion
usually triggered by playing sports - acute rapid onset unilateral testicular pain - abdo pain - vomiting - firm swollen testicle - elevated testicle - absent cremasters reflex - abnormal testciular lie - rotation
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What is a bell clapper deformity?
a cause of testicular torsion fixation between the testicle and the tunica vaginalis is absent - testicle hangs in a horizontal plane - Able to rotate within the tunica vagibalis, twisting at the spermatic cord - cutting off the blood supply
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Management: testicular torsion
emergency 1. Nil by mouth, in preparation for surgery 2. Analgesia as required 3. Urgent senior urology assessment 4. Surgical exploration of the scrotum 5. Orchiopexy (correcting the position of the testicles and fixing them in place) 6. Orchidectomy (removing the testicle) if the surgery is delayed or there is necrosis
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What is seen on a scrotal USS for testicular torsion?
whirlpool sign investigations not reccomended as will delay surgery
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What are the types of hypothroidism in children?
can be: 1. Congenital - underdeveloped thyroid gland (dysgenesis) - fully developed gland that doesn't produce enough hormone (dyshormonogenesis) 2. Acquired - autoimmune = Hashimoto's thyroiditis
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Presentation: hypothyroidism
Prolonged neonatal jaundice Poor feeding Constipation Increased sleeping Reduced activity Slow growth and development
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Management: hypothyroidism
Ix: - thyroid function blood tests (TSH, T3, T4) - thyroid USS - thyroid antibodies Mx - levothyroxine = orally once a day
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What is androgen insensitivity syndrome:
cells are unable to respond to androgen hormones due to a lack of androgen receptors - x-linked recessive genetic condition - mutation in androgen receptor gene - extra androgens are converted into oestrogen genetically male with XY but have females phenotype externally
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Presentation: androgen insensitivity syndrome
presents with inguinal hernias primary amenorrhoea
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Investigations: androgen insensitivity syndrome
results of hormone tests are: Raised LH Normal or raised FSH Normal or raised testosterone levels (for a male) Raised oestrogen levels (for a male)
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Management: androgen insensitivity syndrome
Bilateral orchidectomy (removal of the testes) = to avoid testicular tumours Oestrogen therapy Vaginal dilators or vaginal surgery = can be used to create an adequate vaginal length
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