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Paediatrics 3 Flashcards

1
Q

What is Klinefelter syndrome?

A

Occurs when a male has an Additional X chromosome making them 47 XXY.

Rarely they can have even more chromosomes such as 48 XXXY or 49 XXXXY

Extra X-chromosome material is responsible for testicular hyalinization and fibrosis, leading to primary gonadal failure that often evolves through adolescence and young adulthood

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2
Q

What is the presentation of Klinefelter syndrome?

A

Will appear as normal males until puberty where they will develop features of the condition such as:

  • Taller height
  • Wider hips
  • Gynaecomastia
  • Weaker muscles
  • Smaller testicles
  • Reduced libido
  • Shyness
  • Infertility
  • Learning difficulties
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3
Q

What are the management options for Klinefelter syndrome?

A
  • Testosterone injections
  • Advanced IVF techniques
  • Breast reduction surgery
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4
Q

What is there an increased risk of with Klinefelter syndrome?

A
  • Breast cancer
  • Osteoporosis
  • Diabetes
  • Anxiety and depression
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5
Q

What is Down’s syndrome?

A

Down’s Syndrome is caused by three copies of chromosome 21. It is also called trisomy 21. It gives characteristic dysmorphic features and is associated with a number of associated conditions.

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6
Q

What are the dysmorphic features of Down’s syndrome/

A
  • Hypotonia
  • Brachycephaly
  • Short neck
  • Short stature
  • Flattened face and nose
  • Prominent epicanthic folds
  • Upward sloping palpebral fissures
  • Single palmar crease
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7
Q

What are the complications of Down’s syndrome?

A
  • Learning disability
  • Recurrent otitis media
  • Deafness
  • Visual problems
  • Hypothyroidism
  • Cardiac defects: Affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot
  • Leukaemia
  • Dementia
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8
Q

What are some follow up investigations that are important for children with Down’s syndrome?

A

Regular thyroid checks (2 yearly)
Echocardiogram to diagnose cardiac defects
Regular audiometry for hearing impairment
Regular eye checks

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9
Q

What is turner syndrome?

A

Occurs when a female has a single X chromosome making them 45XO

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10
Q

What are the features of turner syndrome?

A
  • Short stature
  • Webbed neck
  • High arching palate
  • Downward sloping eyes
  • Widely space nipples
  • cubitus valgus
  • Undeveloped ovaries with reduced function
  • Late or incomplete puberty
  • Most women are infertile
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11
Q

What is cubitus valgus?

A

An abnormal feature of the elbow.

When the arm is extended downwards with the palms facing forwards the angle of the forearm at the angle of the forearm at the elbow is exaggerated

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12
Q

What are the 3 classic features of turner syndrome?

A
  • Webbed neck
  • Short stature
  • Widely spaced nipples
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13
Q

What are some conditions associated with turner syndrome?

A

Recurrent otitis media
Recurrent urinary tract infections

Coarctation of the aorta, Aortic stenosis.
Aortic dissection

Hypothyroidism
Hypertension
Obesity
Diabetes
Osteoporosis
Various specific learning disabilities

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14
Q

What is the management of turner syndrome?

A
  • Growth hormone
  • Oestrogen and progesterone
  • Fertility treatment
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15
Q

What is Noonan syndrome?

A

It is an autosomal dominant condition that has a number of different genes that can cause it

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16
Q

What are some features of Noonan syndrome?

A

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

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17
Q

What are some conditions associated with Noonan syndrome?

A
  • Congenital heart disease, particularly pulmonary valve stenosis, HOCM and ASD
  • Cryptorchidism
  • Learning disability
  • Bleeding disorders
  • Lymphoedema
  • Increased risk of leukaemia and neuroblastoma
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18
Q

What is a key difference between Noonan and Turner?

A

Fertility is preserved in Noonan

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19
Q

What causes Edwards syndrome?

A

Trisomy 18

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20
Q

What is the prognosis of Edwards syndrome?

A

Many of those affected die before birth. Some studies suggest that more babies that survive to birth are female. Survival beyond a year of life is around 5–10%.

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21
Q

What are the features of Edwards syndrome?

A

Low birthweight
* Prominent occiput
* Small mouth and chin
* Short sternum
* Flexed, overlapping fingers
* ‘Rocker-bottom’ feet
* Cardiac and renal
malformations

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22
Q

What is Patau syndrome?

A

Trisomy 13

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23
Q

What is seen in Patau syndrome?

A

Nervous system
Intellectual disability and motor disorder
Microcephaly

Polydactyl
Low set ears
Rocker bottom feet
Cleft palate
Heart defects

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24
Q

What is the prognosis of Patau syndrome?

A

Approximately 90% of infants with Patau syndrome die within the first year of life.[8] Those children who do survive past 1 year of life are typically severely disabled with intellectual disability, seizures, and psychomotor issues

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25
Q

What is fragile X syndrome?

A

It is caused by the FMR1 gene on the ** X chromosome** which plays a role in the cognitive development of the brain

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26
Q

What inheritance pattern is Fragile X?

A

X-linked but unclear whether it is dominant or recessive.

Males are always affected but it varies how much females are affected

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27
Q

What are the features of Fragile X?

A

Usually presents with a delay in speech and language development

  • Intellectual disability
  • Long narrow face
  • Large ears
  • Large testicles
  • Hypermobile joints
  • ADHD
  • Autism
  • Seizures
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28
Q
A
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29
Q

What is cystic fibrosis?

A

An inherited autosomal recessive multi-system disease affecting the mucus glands

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30
Q

A mutation on what gene causes CF?

A

cystic fibrosis transmembrane conductance regulatory gene on chromosome 7

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31
Q

How does a mutation to the CFTR gene cause disease?

A
  • The CFTR protein gets misfolded and can’t migrate from the RER to the cell membrane
  • The CFTR is a channel protein that pumps chloride ions into various secretions helping to thin them out meaning secretions are left overly thick
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32
Q

How does CF cause respiratory problems?

A
  • Results in dry airways and impaired mucociliary clearance
  • The low volume thick airway secretions result in reduced airway clearance increasing chances of infection and this chronic inflammation can lead to bronchiectasis
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33
Q

What are the GI problems associated with CF?

A
  • Thickened secretions within small and large bowel can make it difficult to pass stools resulting in bowel obstruction
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34
Q

What are the pancreatic problems associated with CF?

A

Thick pancreatic and bile secretions can block the pancreatic ducts resulting in a lack of digestive enzymes this can also result in pancreatitis and diabetes

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35
Q

What are the liver problems associated with CF?

A

Thickened biliary secretions may block the bile ducts resulting in liver fibrosis and cirrhosis

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36
Q

What are some other problems associated with CF?

A
  • Can result in pulmonary hypertension leading to right sided heart failure
  • In males there is bilateral absence of vas deferens so it means there is male infertility
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37
Q

What if often the first sign of CF in a baby?

A

meconium ileus

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38
Q

What is meconium ileus?

A
  • In babies the first stool passed is called the meconium and it is black and sticky and should be passed within 48 hours
  • In babies with CF the meconium does not pass as it is too sticky so it causes bowel obstruction occurs in 20% of babies with CF
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39
Q

What are some signs of CF?

A
  • Low weight
  • Nasal polyps
  • Finger clubbing
  • Crackles and wheezes
  • Abdominal distension
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40
Q

What are the symptoms of CF?

A
  • Chronic cough
  • Thick sputum production
  • Recurrent respiratory infections
  • Loose, greasy stools (steatorrhea) due to a lack of fat digesting lipase enzymes
  • Abdominal pain and bloating
  • Poor weight and height gain (failure to thrive)

-Parents may report the child tastes particularlysaltywhen they kiss them, due to the concentrated salt in the sweat

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41
Q

When is CF most often diagnosed?

A
  • It is found during the heel-prick/Guthrie test which screens for CF in babies by looking for serum immunoreactivity trypsinogen
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42
Q

What is the gold standard test for CF?

A

The sweat test

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43
Q

What is the sweat test?

A

test for CF

  • Pilocarpine is applied to the skin and electrodes are placed either side of the patch with small current to cause skin to sweat
  • The sweat is absorbed and sent to lab for testing a diagnostic test of chloride concentration above **60 mmol/l is diagnostic
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44
Q

What are common microbial colonisers in CF?

A
  • Staphylococcus aureus- patients take long term prophylactic flucloxacillin
  • Pseudomonas aeruginosa- can be harder to treat and worsen the prognosis
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45
Q

What is the management for the respiratory symptoms of CF?

A
  • Chest physiotherapy at least twice a day to remove mucus
  • Exercise
  • Salbutamol
  • Nebulised DNase (dornase alfa wolf) an enzyme that breaks down DNA material in respiratory secretions
  • Nebulised hypertonic saline
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46
Q

What is the treatment for the GI symptoms of CF?

A
  • CREON tablets helps to digest fats in patients with pancreatic insufficiency (missing lipase)
  • High calorie diet to make up for malabsorption and calories needed for respiratory effort
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47
Q

What is the prognosis for CF?

A

. Life expectancy is improving and currently the cystic fibrosis trust gives a median life expectancy of 47 years.

  • 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
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48
Q

what is the new miracle cure for CF?

A

Kaftrio, described by patient groups as a ‘revolutionary drug’, is a triple combination treatment combining three drugs which perform different functions – ivacaftor, tezacaftor and elexacaftor – and tackles the underlying causes of the disease, by helping the lungs work effectively.

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49
Q

What is muscular dystrophy?

A

An umbrella term for genetic conditions that cause gradual weakening and wasting of muscles

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50
Q

What is DMD?

A

It is caused by a mutation (out of frame deletion) of the gene for dystrophin

Dystrophin is responsible for connecting the actin cytoskeleton of each muscle fibre to the underlying basal lamina

The absence of dystrophin means excess calcium penetrates the cell membrane leading to myofibril necrosis

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51
Q

What is the inheritance of DMD?

A

X linked recessive condition

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52
Q

Describe the pathophysiology of DMD?

A

Muscles are not protected from being broken down by enzymes

Therefore DMD you get progressive wasting and weakness of muscle as they are broken down

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53
Q

What cardiovascular conditions are associated with DMD?

A

Dilated cardiomyopathy

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54
Q

What are the symptoms of DMD?

A

Child struggles to get up from lying down (GOWER’s sign)

Skeletal deformities

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55
Q

What is raised in people with DMD?

A

Creatinine kinase

Check this in any boy not walking by 18 months

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56
Q

What is Gower’s sign?

A

Children with proximal muscle weakness use a specific technique to stand up from a lying position

To stand up, they get onto their hands and knees, then push their hips up and backwards like the “downward dog” yoga pose. They then shift their weight backwards and transfer their hands to their knees. Whilst keeping their legs mostly straight they walk their hands up their legs to get their upper body erect. This is because the muscles around the pelvis are not strong enough to get their upper body erect without the help of their arms.

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57
Q

What is the presentation of DMD?

A

Boys present around 3-5 years with weakness in the muscles around the pelvis

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58
Q

What is the management and life expectancy of DMD?

A

. They are usually wheelchair bound by the time they become a teenager. They have a life expectance of around 25 – 35 years with good management of the cardiac and respiratory complications.

Oral steroids have been shown to slow the progression of muscle weakness by as much as two years.

Creatine supplementation can give a slight improvement in muscle strength. Genetic trials are ongoing.

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59
Q

What is Becker’s muscular dystrophy?

A

Becker’s muscular dystrophy is very similar to DMD, however the dystrophin gene is less severely affected and maintains some of its function.

The clinical course is less predictable than DMD. Symptoms only start to appear around 8 – 12 years. Some patient require wheelchairs in their late 20s or 30s . Others able to walk with assistance into later adulthood. Management is similar to DMD

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60
Q

What is myotonic dystrohpy?

A

Myotonic dystrophy is a genetic disorder that usually presents in adulthood. Typical features are:

Progressive muscle weakness
Prolonged muscle contractions
Cataracts
Cardiac arrhythmias

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61
Q

What is the key feature of myotonic dystrophy?

A

The key feature of myotonic dystrophy to remember is the prolonged muscle contraction. This may present in exams with a patient that is unable to let go after shaking someone’s hand, or unable to release their grip on a doorknob after opening a door.

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62
Q

What is Angelman syndrome?

A

A genetic condition caused by the loss of function of the UBE3A gene specifically the copy inherited from the mother

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63
Q

What chromosome is affected in Angelman syndrome?

A

15

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64
Q

What are the features of Angelman syndrome?

A
  • Delayed development
  • 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
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65
Q

What are the key features of Angelman syndrome?

A

Water fascination, happy demeanour and widely spaced teeth

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66
Q

What is Prader-Willi Syndrome?

A

a genetic condition caused by the loss of functional genes on the proximal arm of the chromosome 15 inherited from the father.

This can be due to a deletion of this portion of the chromosome, or when both copies of chromosome 15 are inherited from the mother.

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67
Q

What are the features of Prader-Willi syndrome?

A

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

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68
Q

What is the management of Prader-Willi syndrome?

A

Growth hormone is indicated aimed at improving muscle development and body composition

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69
Q

What is the genetic mutation type of Angelman’s and PWS?

A

Imprinting

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70
Q

What is William syndrome?

A

William syndrome is caused by a 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). It usually the result of a random deletion around conception, rather than being inherited from an affected parent.

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71
Q

What chromosome is affected in William syndrome?

A

7

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72
Q

What are the features of William syndrome?

A

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

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73
Q

What are the key features of William syndrome?

A
  • Very sociable personality
  • Starburst eyes
  • Wide mouth
  • Big smile
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74
Q

What are some associated conditions of William syndrome?

A
  • Supravalvular aortic stenosis (narrowing just above the aortic valve)
  • ADHD
  • Hypertension
  • Hypercalcaemia
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75
Q

What is osteogenesis imperfecta

A

A inherited condition that leads to bone weakness in children.

It is due to a defect in type 1 collagen genes

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76
Q

What is the inheritance of osteogenesis imperfecta?

A

Inheritance is Autosomal Dominate in 90%

There are 8 types of osteogenesis imperfecta depending on the underlying genetic mutation, and they vary in their severity. Type I is most common

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77
Q

What is the presentation of osteogenesis imperfecta?

A

It presents with recurrent and inappropriate fractures

  • Hypermobility
  • Blue/grey sclera
  • Triangular face
  • Short stature
  • Deafness
  • Dental problems
  • Bone deformities
  • Joint and bone pain
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78
Q

What are some tests for OGI?

A
  • Genetic testing
    • Biochemistry: normal/increased alkaline phosphatase (ALP).
      Xrays to diagnose fractures and bone deformities
  • Bone biopsy: histology—increased Haversian canal + osteocyte lacunae
    diameters, increased cell numbers.

It is however a clinical diagnosis

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79
Q

What is the classification system for OGI called?

A

The silence classification

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80
Q

What are the medical treatments of OGI?

A

Bisphosphates
Vit D supplementation

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81
Q

What is Ricketts?

A

A condition affecting children where there is defective bone mineralisation causing soft and deformed bones

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82
Q

What causes Ricketts?

A

It is caused by a deficiency in Vit D or Calcium

There is a rare form of rickets caused by genetic defects that result in low phosphate in the blood

This is called hereditary hypophosphataemic rickets. The most common form is x-linked dominant, however it also has other modes of inheritance.

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83
Q

Describe the pathophysiology of rickets

A

Vit D is a hormone created by cholesterol by the skin in response to UV radiation. A standard diet contains inadequate levels

Patients with malabsorption disorders are more likely to be deficient as well as people with CKD as kidneys are needed to activate Vit D

Vit D is essential in calcium and phosphate absorption from the intestines and kidneys it is also important for regulating bone turnover and promoting bone reabsorption

Low levels of Vit D leads to lack of calcium and phosphate where results in defective bone mineralisation.

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84
Q

What is the effect of low calcium levels?

A

Low calcium causes a secondary hyperparathyroidism as the parathyroid gland tries to raise the calcium level by secreting parathyroid hormone.

Parathyroid hormone stimulates increased reabsorption of calcium from the bones. This causes further problems with bone mineralisation.

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85
Q

What are some risk factors for Rickets?

A
  • Darker skin
  • Low exposure to sunlight
  • Poor diet
  • Colder climate
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86
Q

What are the of Rickets?

A
  • Lethargy
  • Bone pain
  • Swollen wrists
  • Bone deformity
  • Por growth
  • Dental problems
  • Muscle weakness
  • Pathological fractures
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87
Q

What are some signs of Rickets (bone deformities)?

A

Bowing of the legs, where the legs curve outwards

Knock knees, where the legs curve inwards

Rachitic rosary, where the ends of the ribs expand at the costochondral junctions, causing lumps along the chest

Craniotabes, which is a soft skull, with delayed closure of the sutures and frontal bossing
Delayed teeth with under-development of the enamel

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88
Q

What are the investigations for Rickets?

A

Serum 25-hydrixyvitamin D is the lab test for vitamin D. A result of less than 25 nmol/L establishes a diagnosis vitamin D deficiency, which can lead to rickets.

  • Serum calcium
  • Serum phosphate
  • Serum ALP may be high
  • PTH may be high
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89
Q

What is needed for a diagnosis of Rickets?

A

X-ray will show osteopenia

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90
Q

What other tests will be performed on someone with Rickets?

A

Full blood count and ferritin, for iron deficiency anaemia

Inflammatory markers such as ESR and CRP, for inflammatory conditions

Kidney function tests, for kidney disease

Liver function tests, for liver pathology

Thyroid function tests, for hypothyroidism

Malabsorption screen such as anti-TTG antibodies, for coeliac disease

Autoimmune and rheumatoid tests, for inflammatory autoimmune conditions

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91
Q

What is the management for rickets?

A

Prevention is the best management breastfed babies are at higher risk. Therefore all breastfeeding women and children should take a vitamin D supplement

Children with vitamin D deficiency can be treated with vitamin D (ergocalciferol). The doses for treatment of vitamin D deficiency depend on the age (see the BNF). The dose for children between 6 months and 12 years is 6,000 IU per day for 8 – 12 weeks.

Children with features of rickets should be referred to a paediatrician. Vitamin D and calcium supplementation is used to treat rickets.

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92
Q

What is transient synovitis?

A

It sometimes is referred to as irritable hip. It is caused by irritation and inflammation in the synovial membrane

It is the most common cause of hip pain in children between 3-10 years

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93
Q

What is the presentation of transient synovitis?

A

It often occurs within a few week of a viral illness often a respiratory tract infection symptoms include:

  • Limp
  • Refusal to bear weight
  • Groin or hip pain
  • Mild to low grade temperature

Children with transient synovitis should be otherwise well. They should have normal paediatric observations and no signs of systemic illness. When other signs are present, consider alternative diagnoses.

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94
Q

What is the management of transient synovitis?

A

Treat with simple analgesia.

The challenge is to establish the correct diagnosis and exclude other pathology.

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95
Q

How should transient synovitis be treated?

A

Children aged 3-9 can be managed in primary care if the limp is present for less than 48 hours and they are otherwise well.

However they need safety net advice to attend A&E if symptoms get worse or they develop a fever.

There should be follow up at 48 hours and 1 week

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96
Q

What is the prognosis for transient synovitis?

A

Typically there is a significant improvement in symptoms after 24 – 48 hours. Symptoms fully resolve within 1 – 2 weeks without any lasting problems. Transient synovitis may recur in around 20% of patients.

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97
Q

What is the most common age for septic arthritis to occur and what is the mortality rate?

A

Most common age is under 4

Mortality is 10%

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98
Q

What is the presentation of septic arthritis?

A

It often affects a single joint which is often a knee or hip

  • Hot red and swollen joint
  • Refusing to bear weight
  • Stiffness and reduced range of motion
  • Systemic symptoms such as fever
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99
Q

What is the most common cause of Septic arthritis?

A

Staphylococcus aureus

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100
Q

What are some other bacteria that can cause SA?

A

Neisseria gonorrhoea (gonococcus) in sexually active teenagers
Group A streptococcus (Streptococcus pyogenes)
Haemophilus influenza
Escherichia coli (E. coli)

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101
Q

What is the Criteria seen in septic arthritis?

A

Kochers Criteria

T>38.5
CRP>20
ESR>40
WCC>12
Cannot weight bear

3/4 = septic joint.

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102
Q

What are some differentials of SA?

A

Transient sinovitis
Perthes disease
Slipped upper femoral epiphysis
Juvenile idiopathic arthritis

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103
Q

What are the investigations for SA?

A
  • Have a low threshold for treating it until it has been excluded with examination of the joint fluid
  • The joint should be aspirated prior to giving Abx. Send the sample for gram staining, crystal microscopy, culture and antibiotic sensitivities
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104
Q

What is the treatment for SA?

A
  • Empirical IV Abx should be given until microbial sensitives are known. They should be continued for 3-6 weeks
  • Empirical therapy: flucloxacillin is first-line
    • Penicillin allergy: clindamycin
  • Patients may require surgical drainage and washout of the joint
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105
Q

What is osteomyelitis?

A

An infection in the bone and bone marrow.

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106
Q

What bones are most commonly affected bones in OM?

A

The metaphysis of long bones. The most common cause is staphylococcus aureus

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107
Q

What are the risk factors for OM?

A

More common in boys and children under 10:

  • Open bone fracture
  • Surgery
  • Immunocompromised
  • Sickle cell anaemia
  • HIV
  • TB
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108
Q

What is the presentation of OM?

A

An acutely unwell child or more chronically subtle signs and symptoms such as:

  • Refusing to weight bear
  • Pain
  • Swelling
  • Tenderness

They may be afebrile or have a low grade fever

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109
Q

What are the investigations for OM?

A

X-rays are often the initial investigation but can be normal

MRI is the best for establishing a diagnosis

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110
Q

What is the treatment for Osteomyelitis?

A

> 3 months old - IV cefuroxime (to cover for loads of stuff) 6 months, switch to fluclox when ready

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111
Q

What is Perthes disease?

A

It involves disruption of blood flow to the femoral head causing Avascular necrosis of the bone

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112
Q

What is the pathophysiology of Perthes diease?

A

It affects the epiphysis of the femur which is the bone distal to the growth plates

It is described as idiopathic meaning there is no clear cause of it. One theory suggests that repeated mechanical stress to the epiphysis may interrupt the blood supply.

Overtime there is revascularisation and healing of the femoral head. There is remodelling of the bone as it heals.

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113
Q

What is the main complication of Perthes disease?

A

A soft a deformed femoral head leading to early hip OA.

This leads to an artificial hip replacement in 5% of patients

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114
Q

What is the common age of presentation of Perthes disease?

A
  • Most common between 5-8 and more common in boys 5:1 ratio
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115
Q

What is the presentation of Perthes disease?

A
  • Pain in the hip or groin
  • Limp
  • Restricted hip movements
  • Referred pain to the knee

There will be no history of trauma if there is minor trauma think about slipped upper femoral epiphysis, particularly in older children.

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116
Q

What are the investigations for Perthes disease?

A

X-ray (can be normal)

Blood tests are typically normal, particularly inflammatory markers that are used to exclude other causes
Technetium bone scan
MRI scan

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117
Q

What is the management of Perthes disease?

A

Initial management in younger and less severe disease is conservative. The aim of ,management to maintain a healthy position and alignment in the joint and reduce the risk of damage or deformity to the femoral head. This is with:

Bed rest
Traction
Crutches
Analgesia

Physiotherapy is used to retain the range of movement in the muscles and joints without putting excess stress on the bone.

Regular xrays are used to assess healing.

Surgery may be used in severe cases, older children or those that are not healing. The aim is to improve the alignment and function of the femoral head and hip.

Prognosis is best in those under 6

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118
Q

What is Slipped upper femoral epiphysis (SUFE)?

A

Where the head of the femur is displaced along the growth plate

It is more common in boys and presents aged 8-15

Average age is 12 in boys and 11 in girls

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119
Q

What is a risk factor for SUFE?

A

Obesity

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120
Q

What is the typical presentation of SUFE?

A

An obese male undergrowing a growth spurt. There may be history of minor trauma that triggers the onset of symptoms

  • Hip, groin, thigh or knee pain
  • Restricted range of movement
  • Painful limp
  • Restricted movement in the hip
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121
Q

What position will patients keep their hips in with SUFE?

A

External rotation

There will be restricted internal rotation of the hip

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122
Q

What is the investigation of choice for SUFE?

A

X-ray

Blood tests are normal, particularly inflammatory markers used to exclude other causes of joint pain
Technetium bone scan
CT scan
MRI scan

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123
Q

What is the management of SUFE?

A

Surgery to return the femoral head to the correct place

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124
Q

What is a discoid meniscus?

A

Congenital anomaly of the knee found in 3% of the population typically affecting the lateral meniscus

Discoid meniscus is thickened and has a fuller crescent shape and does not taper as much towards the centre of the joint and is shaped like a disc

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125
Q

What can having a discoid meniscus lead to??

A

The thickness of the meniscus is The thickness of the meniscus, its diminished vascular blood supply, and in some instances, weak capsular attachment, makes it more prone to tears compared to a normal meniscus.

a tear of the meniscus can result in pain, swelling, and snapping in the affected knee

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126
Q

What is the best way to diagnose a torn meniscus?

A

An X-ray study would be done to rule out any bony pathology such as a fracture. Since it is difficult to diagnose meniscal anomalies with X-ray, an MRI would be necessary to visualize the discoid meniscus.

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127
Q

What is Osgood-Schlatter disease?

A

Caused by inflammation at the tibial tuberosity where the patella ligament inserts

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128
Q

What age does Osgood-Schlatter disease present?

A

10-15 and is more common in boys

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129
Q

What is the pathophysiology of Osgood-Schlatter disease?

A

Stress form running, jumping and other movements at the same time as growth in the epiphyseal plate results in inflammation of tibial epiphyseal plate

There are multiple small avulsion fractures where the patella ligament pulls away tiny pieces of the bone causing a visible lump below the knee

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130
Q

What is the presentation of Osgood-Schlatter disease?

A

Osgood-Schlatter disease presents with a gradual onset of symptoms:

Visible or palpable hard and tender lump at the tibial tuberosity

Pain in the anterior aspect of the knee

The pain is exacerbated by physical activity, kneeling and on extension of the knee

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131
Q

What is the management of Osgood-Schlatter disease?

A

Initial management focuses on reducing the pain and inflammation.

Reduction in physical activity
Ice
NSAIDS (ibuprofen) for symptomatic relief
Once symptoms settle, stretching and physiotherapy can be used to strengthen the joint and improve function.

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132
Q

What is a complication of Osgood-Schlatter disease?

A

A rare complication is a full avulsion fracture, where the tibial tuberosity is separated from the rest of the tibia. This usually requires surgical intervention.

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133
Q

What is developmental dysplasia of the hip (DDH)?

A

A condition where there is a structural abnormality in the hips caused by the abnormal development of the Fetal bones during pregnancy

This leads to instability in the hips leading them prone to dislocation and subluxation.

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134
Q

What are some of the affects of DDH in later life?

A
  • Weakness
    -Recurrent subluxation and dislocation
  • Abnormal gait
  • Early degenerative changes
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135
Q

What are the risk factors for DDH/

A
  • Family history
  • Breech presentation from 36 weeks onwards
  • Breech presentation at birth for 28 weeks onwards
  • Multiple pregnancy
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136
Q

When screening for DDH?

A

It is screened for at birth and the 6-8 week check.

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137
Q

What findings may suggest DDH on an exam?

A

Different leg lengths
Restricted hip abduction on one side
Significant bilateral restriction in abduction
Difference in the knee level when the hips are flexed
Clunking of the hips on special tests

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138
Q

What are the two special tests for DDH?

A

Ortolani test
Barlow test

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139
Q

What is the Ortolani test?

A

Ortolani test is done with the baby on their back with the hips and knees flexed. Palms are placed on the baby’s knees with thumbs on the inner thigh and four fingers on the outer thigh. Gentle pressure is used to abduct the hips and apply pressure behind the legs with the fingers to see if the hips will dislocate anteriorly.

140
Q

What is Barlow test?

A

Barlow test is done with the baby on their back with the hips adducted and flexed at 90 degrees and knees bent at 90 degrees. Gentle downward pressure is placed on knees through femur to see if the femoral head will dislocate posteriorly.

141
Q

What is done when children are suspected of having DDH?

A

Where children are suspected of having DDH, ultrasound of the hips is the investigation of choice and can establish the diagnosis. All children with risk factors or examination findings suggestive of DDH should have an ultrasound.

Xrays can also be helpful, particularly in older infants.

142
Q

What is the management of DDH for babies that present at less than 6 months?

A

Pavlik harness

The aim is to hold the femoral head in the correct position to allow the hip socket to develop a normal shape

The harness keeps the hips Flexed and abducted . It is usually removed after 6-8 weeks

143
Q

What is done for DDH after 6 months?

A

Surgery is required when the harness fails or the diagnosis is made after 6 months of age.

After surgery is performed, an hip Spica cast is used to immobilises the hip for a prolonged period.

144
Q

What is Juvenile Idiopathic Arthritis?

A

A condition affecting children and adolescents where autoimmune inflammation occurs in the joint

It is diagnosed where there is arthritis without any other cause lasting more than 6 week sin a patient under the age of 16

145
Q

What are the subtypes of JIA?

A

Systemic JIA
Polyarticular JIA
Oligoarticular JIA
Enthesitis related arthritis
Juvenile psoriatic arthritis

146
Q

What is systemic JIA?

A

This is also knowns as Still’s disease. This is a systemic illness that can occur throughout childhood in boys and girls. It is an idiopathic inflammatory condition. :

147
Q

What are the features of systemic JIA?

A
  • **Subtle salmon-pink rash*8
  • High swinging fevers
  • Enlarged lymph nodes
  • Weight loss
  • Joint pain and inflammation
  • Splenomegaly
  • Muscle pain
  • Pericarditis
148
Q

What is the serology of systemic JIA?

A

Antinuclear antibodies and rheumatoid factors are typically negative.

There will be raised inflammatory markers, with raised CRP, ESR, platelets and serum ferritin.

149
Q

What is a complication of JIA?

A

Macrophage activation syndrome where there is severe activation of the immune system

It presents with an unwell child with DIC, anaemia thrombocytopenia, bleeding and a non-blanching rash. It is life threatening.

A key investigation finding is a low ESR.

150
Q
A
151
Q

What are some differentials of systemic JIA?

A

Kawasaki disease, Still’s disease, rheumatic fever and leukaemia.

152
Q

What is polyarticular JIA?

A

idiopathic inflammatory arthritis in 5 joints or more.

The inflammatory arthritis tends to be symmetrical and can affect the small joints of the hands and feet, as well as the large joints such as the hips and knees.

153
Q

What are the systemic symptoms if JIA?

A
  • Mild fever
  • Anaemia
  • Reduced growth

There typically tends to be few systemic symptoms

It is the equivalent of rheumatoid arthritis in adults

Can be seronegative or positive for RF tends to be positive in older children

154
Q

What is Oligoarticular JIA?

A

also knowns as pauciarticular JIA. It involves 4 joints or less. Usually it only affects a single joint, which is described as a monoarthritis.

It tends to affect the larger joints, often the knee or ankle. It occurs more frequently in girls under the age of 6 years.

155
Q

What is a classic feature of Oligoarticular JIA and what antibodies are often positive?

A

Anterior uveitis

antinuclear antibodies are often positive but RF is negative

156
Q

What is Enthesitis-Related Arthritis?

A

It can be thought of as the paediatric version of the seronegative spondyloarthropathy group of conditions that affect adults. These conditions are ankylosing spondylitis, psoriatic arthritis, reactive arthritis and inflammatory bowel disease-related arthritis.

Patients have inflammatory arthritis in the joints as well as enthesitis.

157
Q

What is enthesis?

A

It is the inflammation at the insertion point of a muscle onto the none.

It can be caused by repetitive stress such as during sport but also autoimmune

An MRI can show it

158
Q

What gene is associated with enthesitis-related arthritis?

A

HLA B27

When assessing patients for enthesitis-related arthritis, consider signs and symptoms of psoriasis (psoriatic plaques and nail pitting) and inflammatory bowel disease (intermitted diarrhoea and rectal bleeding).

Patients with enthesitis-related arthritis are prone to anterior uveitis, and should see an ophthalmologist for screening, even if they are asymptomatic.

159
Q

What are the key areas for tenderness in enthesitis related arthritis?

A

Interphalangeal joints in the hand
Wrist
Over the greater trochanter on the lateral aspect of the hip
Quadriceps insertion at the anterior superior iliac spine
Quadriceps and patella tendon insertion around the patella
Base of Achilles, at the calcaneus
Metatarsal heads on the base of the foot

160
Q

What is juvenile psoriatic arthritis?

A

Psoriatic arthritis is an seronegative inflammatory arthritis associated with psoriasis, the skin condition. The pattern of joint involvement varies.

161
Q

What joints are affected in Juvenile Psoriatic Arthritis?

A

Symmetrical polyarthritis affecting the small joints

Or an asymmetrical arthritis affecting the large joints of the lower limb

162
Q

What are some signs of Juvenile Psoriatic Arthritis?

A

Plaques of psoriasis on the skin
Pitting of the nails (nail pitting)
Onycholysis, separation of the nail from the nail bed
Dactylitis, inflammation of the full finger
Enthesitis, inflammation of the entheses, which are the points of insertion of tendons into bon

163
Q

What is the management of JIA?

A

NSAIDS
Steroids
DMARDS- such as methotrexate, sulfasalazine, leflunomide
Biological therapies such as: tumour necrosis factor inhibitors etanercept, infliximab and adalimumab

164
Q

Outline what happens in scoliosis

A

Condition that causes a lateral curvature of the spine

This leads to bending of the spine and poor posture, even lead to cardiorespiratory failure

165
Q

What are some symptoms of scoliosis?

A

Symptoms:

– Pain in the shoulders and back

– Restrictive lung disease

– Limited mobility

– Uneven hips, arms or leg lengths

– Constipation due to tightening up of the bowel contents

166
Q

What is the management of scoliosis?

A

– If minor –>can self-resolve

– If severe –> may require bracing and physiotherapy, else surgery is needed

167
Q

What is Torticollis?

A

This is known as wry neck and is defined by an abnormal, asymmetrical head position

168
Q

What causes torticollis?

A

– It is due to excessive contraction of the sternocleidomastoid which pulls the ear to ipsilateral shoulder and the face to the other side.

Congenital torticollis:
– Birth trauma
– Also can be due to a sternocleidomastoid tumour

Acquired:

– Due to muscle spasm (most common)
– Also due to ENT infections, antipsychotics

169
Q

What is the treatment for torticollis

A

– Physical therapy like stretching helps and it usually self-resolves within a few days

– If unresolving, surgery may be required

170
Q

What are the causes of hip pain in 0-4 year olds?

A

Septic arthritis
Developmental dysplasia of the hip (DDH)
Transient sinovitis

171
Q

What are the causes of hip pain in 4-10 year olds?

A
  • Trauma
  • Transient synovitis (irritable hip)
  • Infection
  • Perthes disease
  • Juvenile idiopathic arthritis
  • Malignancy, e.g. leukaemia
172
Q

What are some differentials diagnosis of a limp in children aged 10-18?

A
  • Trauma
  • Infection
  • Slipped upper femoral epiphysis
  • Juvenile idiopathic arthritis
  • Malignancy, e.g. osteogenic sarcoma
    Perthe’s disease.
173
Q

What are some red flags for hip pain?

A

Child under 3 years
Fever
Waking at night with pain
Weight loss
Anorexia
Night sweats
Fatigue
Persistent pain
Stiffness in the morning
Swollen or red joint

174
Q

What are 3 issues with neonatal resuscitations?

A
  • Babies have a large surface areas to weight ratio so lose heat easily
  • Babies are born wet so loose heat rapidly
  • Babies that are born through meconium may have it in their mouth or airway
175
Q

What are the principles of neonatal resuscitation?

A

Warm the baby- get the baby dry as quickly as possible and keep baby under a heat lamp. Babies under 28 weeks are placed in plastic bag
Stimulate breathing
Inflation breaths
Chest compressions
IV drugs and intubation

Calculate AGPAR score at 1, 5 and 10 minuets

176
Q

How can you stimulate breathing in a neonate?

A
  • Dry vigorously with towel
  • Place the babies head in a neutral position to keep airway open
  • Check for airway obstruction
177
Q

When and how are inflation breaths given to a neonate?

A

When the neonate is gasping or not breathing despite adequate initial stimulation

  • Two cycles of five inflation breaths
  • If there is no response and the heart rate is low 30 seconds of ventilation breaths
  • If there is still no response chest compressions can be used

When performing inflation breaths, air should be used in term or near term babies, and a mix of air and oxygen should be used in pre-term babies. Oxygen saturations can be monitored throughout resuscitation if there are concerns about the breathing. Aim for a gradual rise in oxygen saturations, not exceeding 95%.

178
Q

How and when should chest compressions commence?

A
  • Start chest compressions if the heart rate remains below 60 bpm
  • Chest compressions are performed at a 3:1 ratio
179
Q

What may babies near or at term with hypoxic-ischaemic encephalopathy (HIE) benefit from?

A

Therapeutic hypothermia with active cooling.

180
Q

How is the AGPAR score calculated

A

Appearance (skin colour)
Blue / pale centrally
Blue extremities
Pink

Pulse:
Absent
< 100
> 100

Grimace (response to stimulation)
No response
Little response
Good response

Activity (muslce tone)
Floppy
Flexed arms and legs
Active

Respiration
Absent
Slow / irregular
Strong / crying

181
Q

Who does respiratory distress syndrome affect?

A

It affects premature neonates born before the lungs start producing adequate Surfactant .

Chest X-ray will show a ground glass appearance

182
Q

What is the pathophysiology behind RDS?

A
  • Inadequate surfactant leads to high surface tension
  • This leads atelectasis (lung collapse) as it is more difficult for the alveoli and the lungs to expand
  • This leads to inadequate gaseous exchange resulting in:
  • Hypoxia
  • Hypercapnia
  • Respiratory distress
183
Q

What is the management of RDS?

A
  • Antenatal steroids are given to mothers with suspected pre-term labour to increase the production of surfactant

Neonates may need:
- Intubation and ventilation
- Endotracheal surfactant
- Continuous positive airway pressure (CPAP) via a nasal mask
- Supplementary oxygen to maintain oxygen saturations between 91 and 95% in preterm neonates

184
Q

What are some short term complications of RDS?

A

Pneumothorax
Infection
Apnoea
Intraventricular haemorrhage
Pulmonary haemorrhage
Necrotising enterocolitis

185
Q

What are some long term complications of RDS?

A

Chronic lung disease of prematurity

Retinopathy of prematurity occurs more often and more severely in neonates with RDS

Neurological, hearing and visual impairment

186
Q

What can often be seen w RDS?

A

Hypoglycaemia -
Reason: Premature infants have limited glycogen stores and immature glucose homeostasis, and the respiroatry distress leads to increased metabolic demmand

give IV fluids, 10% dextrose - dont give anyting orally in prem RDS babies

(if born at term can give glucogel)

187
Q

What is Bronchopulmonary dysplasia?

A
  • It occurs premature babies typically those born before 28 weeks gestation
  • These babies suffer with RDS and require oxygen and/or intubation at birth
  • Diagnosis is made based on chest x-ray changes and when the infant requires oxygen therapy after they reach 36 weeks
188
Q

What are the features of bronchopulmonary dysplasia?

A

Low oxygen saturations
Increased work of breathing
Poor feeding and weight gain
Crackles and wheezes on chest auscultation
Increased susceptibility to infection

189
Q

How can bronchopulmonary dysplasia be prevented?

A

Give corticosteroids to mothers that show signs of giving birth prematurely

  • Using CPAP rather that intubation
  • Using Caffeine to stimulate respiratory effort
  • Not over-oxygenating
  • Give sildenafil
190
Q

What is the management of bronchopulmonary dysplasia?

A

A formal sleep study to assess their oxygen saturations during sleep supports the diagnosis and guides management. Babies may be discharged from the neonatal unit on a low dose of oxygen to continue at home, for example 0.01 litres per minute via nasal cannula. They are followed up to wean the oxygen level over the first year of life.

191
Q

What do babies with BPD need protection against?

A

They need protecting against RSV to reduce the risk and severity of bronchiolitis

It involves monthly injections of a monoclonal antibody palivizumab

This is very expensive (around £500 per injection) so is reserved for babies meeting certain criteria.

192
Q

What is meconium aspiration syndrome?

A

A condition which is caused by the foetus aspirating its meconium

seen as distress in a newborn in the setting of meconium-stained amniotic fluid, whose distress cannot be otherwise explained

– The meconium is a lung irritant and can lead to mechanical obstruction and chemical pneumonitis

193
Q

What causes Meconium Aspiration syndrome, and what does it go on to do?

A

Hypoxia results in gasping and meconium passage in utero, a combination that leads to aspiration .

Meconium aspiration inhibits surfactant, obstructs the respiratory tract, and induces pneumonitis.

  • Presents with respiratory distress soon after birth
194
Q

What is the treatment of meconium aspiration syndrome?

A

– Respiratory support (with mechanical ventilation) with anti-inflammatories/pulmonary dilators if pulmonary hypertension

Sunctioning

195
Q

What is Hypoxic ischaemic encephalopathy (HIE)?

A

It occurs in neonates as a result of hypoxia during birth

Some hypoxia is normal during birth however prolonged or severe hypoxia leads to ischaemic brain injury causing cerebral palsy

196
Q

What events can indicate HIE?

A

hypoxia during the perinatal or intrapartum period, acidosis (pH < 7) on the umbilical artery blood gas, poor Apgar scores, features of mild, moderate or severe HIE (see below) or evidence of multi organ failure.

197
Q

What are the causes of HIE?

A
  • Maternal shock
  • Intrapartum haemorrhage
  • Prolapsed cord
  • Nuchal cord (wrapped round neck)
198
Q

What is HIE graded

A

Sarnat staging

199
Q

What is mild HIE?

A

Poor feeding, generally irritability and hyper-alert
Resolves within 24 hours
Normal prognosis

200
Q

What is moderate HIE?

A

Poor feeding, lethargic, hypotonic and seizures
Can take weeks to resolve
Up to 40% develop cerebral palsy

201
Q

What is severe HIE?

A

Reduced consciousness, apnoeas, flaccid and reduced or absent reflexes
Up to 50% mortality
Up to 90% develop cerebral palsy

202
Q

What is the management for HIE?

A

Therapeutic hypothermia is an option in certain circumstances to help protect the brain from hypoxic injury.

The temperature is carefully monitored with a target of between 33 and 34°C, measured using a rectal probe. This is continued for 72 hours, after which the baby is gradually warmed to a normal temperature over 6 hours.

The intention of therapeutic hypothermia is to reduce the inflammation and neurone loss after the acute hypoxic injury. It reduces the risk of cerebral palsy, developmental delay, learning disability, blindness and death.

203
Q

What are the neonatal infections that make up the TORCH acronym?

A

T- Toxoplasmosis
O- Other (syphilis, VZV, parvovirus b19)
R- Rubella
C- Cytomegalovirus
H- Herpes

204
Q

What are the consequences of a toxoplasmosis infection?

A

There is a classic triad of features:

  • Intracranial calcification (calcium deposits in the brain)
  • Hydrocephalus
  • Chorioretinitis (inflammation of the choroid and retina in the eye)
205
Q

What are some features of Congenital cytomegalovirus?

A
  • Fetal growth restriction
  • Microcephaly
  • Hearing loss
  • Vision loss
  • Learning disability
  • Seizures
206
Q

What are the features of congenital rubella syndrome?

A
  • Congenital cataracts
  • Heart disease (PDA and pulmonary stenosis)
  • Learning disability
  • Hearing loss
207
Q

What are the features of congenital varicella syndrome?

A
  • Pneumonitis, hepatitis or encephalitis
  • Fetal varicella syndrome
  • Severe neonatal varicella infection if mum is infected around delivery
208
Q

What is Fetal varicella syndrome?

A

Fetal growth restriction
Microcephaly, hydrocephalus and learning disability
Scars and significant skin changes following the dermatomes
Limb hypoplasia (underdeveloped limbs)
Cataracts and inflammation in the eye (chorioretinitis)

209
Q

What is physiological jaundice?

A

There is a high concentration of RBC in the fetus and neonate.

These RBCS are more fragile than normal RBCs and the neonate has less developed liver function

Fetal red blood cells break down more rapidly causing the excretion of lots of bilirubin

This leads to a normal rise in bilirubin shortly after birth, causing a mild yellowing of skin and sclera from 2 – 7 days of age. This usually resolves completely by 10 days. Most babies remain otherwise healthy and well.

210
Q

What are some increased production causes of neonatal jaundice?

A
  • Haemolytic disease of the newborn
  • ABO incompatibility
  • Haemorrhage
  • Intraventricular haemorrhage
  • Cephalo-haematoma
  • Polycythaemia
  • Sepsis and disseminated intravascular coagulation
  • G6PD deficiency
211
Q

What are some decreased clearance causes of neonatal jaundice?

A
  • Prematurity
  • Breast milk jaundice
  • Neonatal cholestasis
  • Extrahepatic biliary atresia
  • Endocrine disorders (hypothyroid and hypopituitary)
  • Gilbert syndrome
212
Q

When is jaundice in a newborn always pathological?

A

In the first 24 hours

213
Q

Why do premature babies often have jaundice?

A

physiological jaundice is exaggerated due to the immature liver.

This increases the risk of complications, particularly kernicterus. Kernicterus is brain damage due to high bilirubin levels. Bilirubin levels need to be carefully monitored in premature babies, as they may require treatment.

214
Q

What is breastmilk jaundice?

A

Babies that are breastfed are more likely to have neonatal jaundice.

Components of breast milk inhibit the ability of the liver to process the bilirubin. Breastfed babies are more likely to become dehydrated if not feeding adequately. Inadequate breastfeeding may lead to slow passage of stools, increasing absorption of bilirubin in the intestines.

215
Q

What is haemolytic disease of the newborn?

A

It is caused by incompatibility between the rhesus antigen of the mother and fetus

When a women is rhesus D negative and her child is rhesus D positive it is likely blood from the baby will be in the mothers blood stream and will produce antibodies to the rhesus D antigen. The mother has then become sensitised to rhesus D antigens.

This sensitisation process does not cause problems during the first pregnancy (unless the sensitisation happens early on, such as during antepartum haemorrhage).

During subsequent pregnancies, the mother’s anti-D antibodies can cross the placenta into the fetus. If that fetus is rhesus positive, these antibodies attach themselves to the red blood cells of the fetus and causes the immune system of the fetus to attack their own red blood cells.

This leads to haemolysis, causing anaemia and high bilirubin levels. This leads to a condition called haemolytic disease of the newborn.

216
Q

What is prolonged jaundice?

A

More than 14 days in full term babies
More than 21 days in premature babies

Prolonged jaundice should prompt further investigation to look for an underlying cause.

These are particularly looking for conditions that will cause jaundice to persist after the initial neonatal period, such as biliary atresia, hypothyroidism and G6PD deficiency.

217
Q

What investigations are done for a baby with jaundice?

A
  • FBC and blood film
  • Conjugated bilirubin
  • Blood type testing
  • Direct coombs test: for haemolysis
  • Thyroid function
  • G6PD levels
218
Q

What is phototherapy?

A

Phototherapy converts unconjugated bilirubin into isomers that can be excreted in the bile and urine without requiring conjugation in the liver. Phototherapy involves removing clothing down to the nappy to expose the skin and eye patches to protect the eyes. Blue light is the best at breaking down bilirubin. A light-box shines blue light on the baby’s skin.

Once phototherapy is complete, a rebound bilirubin should be measured 12 – 18 hours after stopping to ensure the levels do not rise about the treatment threshold again.

219
Q

What is kernicterus?

A

Kernicterus is a type of brain damage caused by excessive bilirubin levels. It is the main reason we treat neonatal jaundice to keep bilirubin levels below certain thresholds.

Bilirubin can cross the blood-brain barrier. Excessive bilirubin causes direct damage to the central nervous system. Kernicterus presents with a less responsive, floppy, drowsy baby with poor feeding. The damage to the nervous system is permeant, causing cerebral palsy, learning disability and deafness. Kernicterus is now rare due to effective treatment of jaundice.

220
Q

What is Necrotising enterocolitis?

A

A disorder affecting premature neonates where part of the bowel becomes necrotic.

Death of the bowel can lead to bowel perforation leading to peritonitis and shock

221
Q

What are the risk factors for Necrotising enterocolitis?

A
  • Very low birth weight/very premature
  • Formula feeds
  • Respiratory distress
  • Sepsis
  • PDA and other congenital heart diseases
222
Q

What is the presentation of Necrotising enterocolitis?

A
  • Intolerance to feed
  • Vomiting, particularly green bile
  • Distended tender abdomen
  • Absent bowel sounds
  • Blood in stools
223
Q

What are the investigations for Necrotising enterocolitis?

A

FBC- for thrombocytopenia and neutropenia
- CRP
- Capillary blood gas will show metabolic acidosis
- Blood culture

Abdominal x-ray is the investigation for diagnosis

224
Q

What position is the x-ray performed in and what can it show in Necrotising enterocolitis?

A

Front on in the supine position

It can show:
- Dilated bowel loops
- Bowel wall oedema
- Pneumatosis intestinalis gas in bowel wall
- Pneumoperitoneum is free gas in the peritoneal cavity
- Gas in the portal veins

225
Q

What is the management of Necrotising enterocolitis?

A
  • Nil by mouth
  • IV fluids
  • Total parental nutrition
  • Antibiotics

A nasogastric tube can be inserted to drain fluid and gas from the stomach and intestine It is a surgical emergency some neonates may need dead bowel tissue removing and a temporary stoma

226
Q

What are the complications of Necrotising enterocolitis>

A

Perforation and peritonitis
Sepsis
Death
Strictures
Abscess formation
Recurrence
Long term stoma
Short bowel syndrome after surgery

227
Q

What is Gastroschisis?

A

A birth defect where the baby’s intestines extend outside of the abdomen through a hole next to the belly button

Unlike in exophalos, the gut is not contained in a sac of amniotic membrane and peritoneum

IT CAN BE DETECTED ON ANTENATAL SCANS

228
Q

What is the management of Gastroschisis?

A
  • Immediate: cover the exposed bowel with clingfilm
  • Surgery: the defect requires closing as rapidly as possible, often this has to be staged using a silo because the abdomen is too small for the intestine

total parenteral nutrition may be required for many weeks because intestinal function is slow to resume after the abdominal wall is closed.

229
Q

What is an oesophageal atresia? What other condition does it often happen alongside?

A

The upper part of the oesophagus doesn’t connect with the lower oesophagus and stomach it usually ends in a pouch meaning food can’t reach the stomach

It often happens alongside tracheo-oesophageal fistula which is a connection between the between the lower part of the oesophagus and the windpipe (trachea).

230
Q

What are some causes of small bowel obstruction in a neonate?

A
  • Atresia or stenosis of the duodenum (associated with down syndrome 1/3 of patients)
  • Atresia or stenosis of the jejunum or ileum
  • malrotation with volvulus – a dangerous condition as it may lead to infarction of the entire midgut
  • meconium ileus – thick inspissated meconium, of puttylike consistency, becomes impacted in the lower ileum; almost all affected neonates havecystic fibrosis
231
Q

What are some features of foetus that are associated with maternal hyperthyroidism?

A
  • Fetal tachycardia on the CTG and fetal goitre may be evident on ultrasound

If mothers have or have had Graves disease, 1–2% of their newborn infants are hyperthyroid. This is due to circulating thyroid stimulating immunoglobulin

232
Q

What are the signs of hyperthyroidism in the neonate?

A
  • Irritability
  • Weight loss
  • Tachycardia
  • Heart failure
  • Diarrhoea
  • Exophthalmos in the first 2 weeks of life

Treat with anti thyroid drugs until condition resolves.

233
Q

What are some risk factors for neonates being hypoglycaemic?

A
  • Likely in the first 24 hours of life with intrauterine growth restriction
  • who are preterm,
  • born to mothers with diabetes mellitus,
  • are large-for-dates,
  • hypothermic,
  • polycythaemia
  • ill for any reason
234
Q
A
235
Q

What are the symptoms of neonatal hypoglycaemia?

A

It is often defined as a plasma glucose less than 2.6 mmol/L, although the development of clinical features will depend on whether other energy substrates can be utilised. Clinical features include:

  • sweating
  • pallor
  • central nervous system signs of irritability,
236
Q

What is the treatment of hypoglycaemia of a neonate?

A

Hypoglycaemia can be corrected with an intravenous infusion of glucose (maximum of 5 ml/kg of 10% glucose bolus followed by 10% glucose infusion)

237
Q

What are some common causes of neonatal sepsis?

A

Group B strep
E Coli
Listeria monocytogenes

238
Q

What are some risk factors for neonatal sepsis?

A
  • Vaginal GBS colonisation
  • GBS sepsis in a previous baby
  • Maternal sepsis, chorioamnionitis or fever > 38ºC
  • Prematurity (less than 37 weeks)
  • Early (premature) rupture of membrane
  • Prolonged rupture of membranes (PROM)
239
Q

What are some clinical features of neonatal sepsis?

A
  • Fever
  • Reduced tone and activity
  • Poor feeding
  • Respiratory distress
  • Vomiting
  • Tachycardia or bradycardia
  • Hypoxia
  • Jaundice within 24 hours
  • Seizures
  • Hypoglycaemia
240
Q

What is the management of Neonatal sepsis?

A

Intravenous antibiotics are given
to cover group B streptococci, L. monocytogenes and other Gram-positive organisms (usually benzylpenicillin or amoxicillin), combined with cover for Gram negative organisms (usually an aminoglycoside such as gentamicin).

Basically Benzylpenicillin and Gentamicin

Do lumbar puncture if bloods are positive/there is Neurosigns

241
Q

What can listeria infection do in a mother and how can it be caught?

A

It causes bacteraemia often with mild flu like illness and passage of it to the fetus

Listeria is typically transmitted by unpasteurised dairy products, processed meats and contaminated foods. Pregnant women are advised to avoid high-risk foods (e.g. blue cheese) and practice good food hygiene.

242
Q

What are the symptoms of a listeria infection in children?

A

Maternal infection may cause spontaneous abortion, preterm delivery or fetal/neonatal sepsis.

meconium staining of the amniotic fluid which is unusual in preterm infants, a widespread rash, septicemia, pneumonia, and meningitis.

243
Q

What antibiotics are given to treat a listeria infection?

A

IV amoxicillin and gentamicin

244
Q

What is the most common cause of encephalitis, in Children?

A

HSV-1 from cold sores

245
Q

What is the most common cause of encephalitis, in neonates?

A

Neonates it is herpes simplex type 2 (HSV-2) from genital herpes, contracted during birth.

246
Q

What is cleft lip?

A

A congenital condition where there is a split or open section of the upper lip

247
Q

What is a cleft palate?

A

Cleft palate is where a defect exists in the hard or soft palate at the roof of the mouth. This leaves an opening between the mouth and the nasal cavity. Cleft lip and cleft palate can occur together or on their own.

248
Q

What are some of the complications of a cleft lip/palate?

A

Can cause problems with feeding, swallowing and speech.
Can also affect bonding between mother and child

249
Q

What is the management of a cleft lip/palate?

A

The first priority is to ensure the baby can eat and drink. This may involve specially shaped bottles and teats.

The definitive treatment is to surgically correct the cleft lip or palate. This leaves a subtle scar, but is generally very successful, giving full functionality to the child. Cleft lip surgery is usually performed at 3 months, whilst cleft palate surgery done at 6 – 12 month

250
Q

What is blood spot screening and when does it occur

A

This is a screening test for 9 congenital conditions. It is taken on day 5 (day 8 at the latest) after consent from the parent. A heel prick is used to provide drops of blood. The screening card requires four separate drops.

Results take 6-8 weeks to come back.

251
Q

What are the nine congenital conditions screened for in blood spot screening?

A

Sickle cell disease
Cystic fibrosis
Congenital hypothyroidism
Phenylketonuria
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
Maple syrup urine disease (MSUD)
Isovaleric acidaemia (IVA)
Glutaric aciduria type 1 (GA1)
Homocystin

252
Q

What is the most common cause of anaemia in neonates?

A

Physiologic anaemia of infancy causes most cases of anaemia in infancy.

253
Q

What are some other causes of anaemia in infants?

A

Anaemia of prematurity
Blood loss
Haemolysis
Twin-twin transfusion

254
Q

What are some types of haemolysis in infancy?

A
  • Haemolytic disease of the newborn
  • Hereditary spherocytosis
  • G6PD
255
Q

What is physiologic anaemia of infancy?

A

There is a normal dip around 6-9 weeks. High oxygen delivery to tissues caused by the high haemoglobin levels at birth cause negative feedback

Production of Erythropoietin by the kidneys is suppressed and there is a reduction in production of Hb

256
Q

What is anaemia of prematurity?

A

Premature neonates become anaemic for a number of reasons:

  • Less time in utero receiving iron from the mother
  • RBC creating cannot keep up with rapid growth in first few weeks
  • Reduced EPO levels
  • Blood test remove lots of circulating volume
257
Q

What are some causes of anaemia in older children?

A

The key causes of anaemia in older children are:

Iron deficiency anaemia secondary to dietary insufficiency. This is the most common cause overall.
Blood loss, most frequently from menstruation in older girl

258
Q

What is a common cause of chronic anaemia in developing countries?

A

Helminth infection with roundworms, hookworms or whipworms

The treatment is with albendazole or mebendazole

259
Q

What are some causes of microcytic anaemia?

A

T – Thalassaemia
A – Anaemia of chronic disease
I – Iron deficiency anaemia
L – Lead poisoning
S – Sideroblastic anaemia

260
Q

What are some causes of normocytic anaemia?

A

3 As and 2 Hs for normocytic anaemia:

A – Acute blood loss
A – Anaemia of Chronic Disease
A – Aplastic Anaemia
H – Haemolytic Anaemia
H – Hypothyroidism

261
Q

What are some causes of megaloblastic macrocytic anaemia?

A

B12 deficiency
Folate deficiency

262
Q

What are some causes or normoblastic anaemia?

A

Alcohol
Hypothyroidism
Liver disease
Drugs such as azathioprine
Reticulocytosis (usually from haemolytic anaemia or blood loss)

263
Q

What are some symptoms of anaemia?

A

Tiredness
Shortness of breath
Headaches
Dizziness
Palpitations
Worsening of other conditions

264
Q

What are some symptoms of iron deficiency anaemia?

A

Pica describes dietary cravings for abnormal things such as dirt and can signify iron deficiency
Hair loss can indicate iron deficiency anaemia

265
Q

What are some genereal signs of anaemia?

A

Pale skin
Conjunctival pallor
Tachycardia
Raised respiratory rate

266
Q

What are some specific signs of anaemia?

A

Koilonychia refers to spoon shaped nails, which can indicate iron deficiency

Angular chelitis can indicate iron deficiency

Atrophic glossitis is a smooth tongue due to atrophy of the papillae and can indicate iron deficiency

Brittle hair and nails can indicate iron deficiency

Jaundice occurs in haemolytic anaemia

Bone deformities occur in thalassaemia

267
Q

What are the 3 causes of iron deficiency anaemia?

A

Dietary insufficiency. This is the most common cause in children.

Loss of iron, for example in heavy menstruation

Inadequate iron absorption, for example in Crohn’s disease

268
Q

Where is iron mainly absorbed?

A

Duodenum and jejunum

It requires stomach acid to keep the iron in the soluble fe2+ form where there is less stomach acid iron becomes less soluble. Therefore PPI can interfere with iron absorption

Conditions that result in inflammation of the duodenum or jejunum such as coeliac disease or Crohn’s disease can also cause inadequate iron absorption.

269
Q

What are some investigations for anaemia?

A

Blood film

Reticulocyte count

Ferritin (low iron deficiency)

Bilirubin (raised in haemolysis)

Direct Coombs test (autoimmune haemolytic anaemia)

Haemoglobin electrophoresis (haemoglobinopathies)

Reticulocytes are immature red blood cells. A high level of reticulocytes in the blood indicates active production of red blood cells to replace lost cells. This usually indicates the anaemia is due to haemolysis or blood loss.

269
Q
A
270
Q

What is the formula for working out the transferrin saturation?

A

Transferrin Saturation = Serum Iron / Total Iron Binding Capacity

271
Q

How can inflammation affect ferritin levels?

A

Extra ferritin is released from cells when there is inflammation, such as with infection or cancer. If ferritin in the blood is low, this is highly suggestive of iron deficiency.

High ferritin is difficult to interpret and is likely to be related to inflammation rather than iron overload. A patient with a normal ferritin can still have iron deficiency anaemia, particularly if they have reasons to have a raised ferritin, such as infection.

272
Q

How do transferrin and TIBC levels change with anaemia?

A

Total iron binding capacity can be used as a marker for how much transferrin is in the blood. It is an easier test to perform than measuring transferrin.

Both TIBC and transferrin levels increase in iron deficiency and decrease in iron overload.

273
Q

What is Thalassaemia?

A

It is a genetic defect in the protein chains that make up Hb.

Normal Hb consists of 2 alpha and 2 beta chains

Defects in the alpha globin chains lead to alpha thalassaemia. Defects in the beta globin chains lead to beta thalassaemia.

274
Q

What is the inheritance for thalassaemia?

A

Autosomal recessive

275
Q

What are the consequences of faulty alpha and beta chains in thalassaemia?

A

The red blood cells are more fragile and break down more easily. The spleen acts as a sieve to filter the blood and remove older blood cells. This means the spleen collects all the destroyed red blood cells resulting in Splenomegaly

Also the bone marrow expands to produce extra RBCs to compensate for anaemia. This causes a susceptibility to fractures and prominent features, such as a pronounced forehead and malar eminences (cheek bones).

276
Q

What are some signs and symptoms of thalassemia?

A
  • Microcytic anaemia
  • Fatigue
  • Pallor
  • Jaundice
  • Gallstones
  • Splenomegaly
  • Poor growth and development
  • Pronounced forehead and malar eminences
277
Q

How is a diagnosis of thalassaemia made?

A
  • FBC
  • Haemoglobin electrophoresis
  • DNA testing
278
Q

How does iron overload occur in thalassaemia?

A

Due to the faulty creation of RBCs, recurrent transfusions and increased absorption of iron in the gut

Patients with thalassemia have serum ferritin levels checked

279
Q

What are the symptoms of iron overload?

A
  • Fatigue
  • Liver cirrhosis
  • Infertility
  • Impotence
  • HF
  • Arthritis
  • Diabetes
  • Osteoporosis and joint pain
280
Q

What chromosome is affected in AT?

A

chromosome 16

281
Q

What are the affects of one and 2 deletions of alleles in AT?

A

One gene deletion does not cause symptoms of alpha thalassaemia.
2 gene deletion - mildly anaemic with near-normal haemoglobin electrophoresis.

282
Q

Alpha thalassaemia -
What would someone with 3 gene deletions experience, what do the beta chains form?

A

3 gene deletions are unable to form alpha chains. The beta chains form tetramers (HbH), which damage erythrocytes causing moderate to severe disease

283
Q

Alpha thalassaemia -
What would someone with 4 gene deletions experience, what do the beta chains form?

A

4 gene deletions die in utero because the gamma chains form tetramers (Hb Barts), which cannot carry oxygen efficiently

284
Q

What chromosome is affected in beta thalassaemia?

A

11

285
Q

What are the 3 types of beta thalassaemia?

A

The gene defect can either consist of abnormal copies that retain some function or deletion genes where there is no function in the beta globin protein at all. Based on the type of defect, beta-thalassamia can be split into three types:

Thalassaemia minor
Thalassaemia intermedia
Thalassaemia major

286
Q

What is thalassaemia minor?

A

Carriers of an abnormally functioning beta globin gene. They have one abnormal and one normal gene.

Thalassaemia minor causes mild microcytic anaemia

287
Q

What is thalassaemia intermedia?

A

Patients with beta thalassaemia intermedia have two abnormal copies of the beta-globin gene. This can be either two defective genes or one defective gene and one deletion gene.

Thalassaemia intermedia causes a **more significant microcytic anaemia*

288
Q

Beta Thalassaemia - what is seen in Thalassaemia major - what would a patient with this experience?

A

Patients with beta thalassaemia major are homozygous for the deletion genes. They have no functioning beta-globin genes at all. This is the most severe form and usually presents with severe anaemia and failure to thrive in early childhood.

Thalassaemia major causes:

Severe microcytic anaemia
Splenomegaly
Bone deformities

289
Q

What are the investigations for suspected Alpha and Beta Thalassaemia?

A
  • Blood film: will show hypochromic and microcytic anaemia with target cells visible
  • FBC: Increased reticulocytes and nucleated RBCs in peripheral circulation - known as reticulocytosis

Lab work may also show high serum iron, high ferritin, and a high transferrin saturation level.

Hb electrophoresis –
Skull XR – hair on end sign, enlarged maxilla

290
Q

What is the management of thalassaemia?

A
  • Regular blood transfusions: may be required and will be guided by the Hb level.
  • Iron chelation:desferrioxamine acts as an iron chelator and can be given to treat or prevent iron overload in patients with regular transfusions
  • Folate supplementation:haemolysis leads to increased cell turnover and a state of folate deficiency
  • Splenectomy:
  • Stem cell transplantation:the onlycurativeoption recommended in those with severe disease
290
Q
A
291
Q

What is iron chelation and why might some patients require a splenectomy?

A

Iron chelation DEFFEROXAMINE

thalassaemia can lead to **splenomegaly due to extramedullary erythropoiesis. Can lead to Hypersplenism

292
Q

What happens in Sideroblastic anaemia?

A

sideroblastic anaemia, , is a form of anaemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes), so body can’t carry enough O2.

This is because it cannot incorporate iron into the haemoglobin

due to vitamin B6 deficiency

293
Q

What does a low reticulocyte count indicate?

A

A production problem e.g. infection, renal disease, drugs, marrow failure/infiltration

294
Q

What does a high reticulocyte count indicate?

A

A degradation problem e.g. bleeding or haemolysis.

295
Q

What is hereditary spherocytosis?

A

A condition where the red blood cells are sphere shaped making them fragile and easily destroyed when passing through the spleen

It is autosomal dominant

It is the most common inherited haemolytic anaemia in northern Europeans

296
Q

What is the presentation of Hereditary spherocytosis?

A

Jaundice
Anaemia
Gallstones
Splenomegaly

Patients can have episodes of haemolytic crisis, often triggered by infections, where the haemolysis, anaemia and jaundice is more significant.

297
Q

What can happen in someone with Hereditary spherocytosis?

A

They can develop an aplastic crisis where the bone marrow won’t create new red blood cells.

It is often triggered by an infection with parvovirus

A patient with spherocytosis may present with anaemia and you could be asked to identify the causative infectious agent. Alternatively, someone affected by parvovirus could develop anaemia and jaundice and you may be asked the underlying diagnosis.

298
Q

What is the treatment of hereditary spherocytosis?

A

Treatment is with folate supplementation and splenectomy. Removal of the gallbladder (cholecystectomy) may be required if gallstones are a problem.

Transfusions may be required during acute crises.

299
Q

What is aplastic anaemia?

A

Bone marrow failure (also known as aplastic anaemia) is a rare condition characterised by a reduction or absence of all three main lineages in the bone marrow leading to peripheral blood pancytopenia.

300
Q

How does aplastic anaemia present?

A
  • Anaemia due to reduced RBCs
  • Infection due to reduced WBCs especially neutrophils
  • Bruising and bleeding due to thrombocytopenia
301
Q

What is the most common inherited form of aplastic anaemia?

A

Fanconi anaemia - an autosomal recessive genetic condition where 90% develop aplastic anaemia.

302
Q

What type of anaemia is Fanconi?

A

Macrocytic

303
Q

What is the typical presentation of Fanconi anaemia and what is the treatment?

A

The majority of children have congenital anomalies, including short stature, abnormal radii and thumbs, renal malformations, microphthalmia, and pigmented skin lesions.

Treatment is bone marrow transplantation

304
Q

What are two coagulation tests you can do in thrombus formation?

A

aPTT - activated partial thromboplastin time
PT - Prothrombin time

305
Q

For both coagulation tests, what pathway does aPTT measure, and what factors does it look at?

A

aPTT- activated prothrombin time

It measures the intrinsic pathway ( 12,11,9,8) and the common pathway 10, 5, 2 prothrombin) and 1 (fibrinogen)

Think TT table tennis indoors

306
Q

what pathway does PT measure, and what factors does it look at?

A

PT - Prothrombin time EXTRINSIC AND COMMON

measures extrinsic pathway (factors 3 and 7) and then common pathway factors 10, 5, 2 (prothrombin) and 1 (fibrinogen)

(T - tennis - outdoors )

307
Q

What is haemophilia A?

A

Haemophilia A is caused by a deficiency in factor VIII.

308
Q

What clotting factor is deficient in Haemophilia B?

A

Haemophilia B (also known as Christmas disease) is caused by a deficiency in factor IX

309
Q

What are some causes of acquired haemophilia?

A
  • Liver failure
  • Vitamin K deficiency
  • Autoimmune
  • DIC
310
Q

What are the symptoms of haemophilia?

A
  • Abnormal bleeding
  • Excessive bleeding
  • Easy bruising
  • Spontaneous haemorrhage - depending on severity of haemophilia
  • Haematomas: collections of blood outside the blood vessels
  • Hemarthrosis: bleeding into joint
311
Q

Where would be common places for bleeding to occur in haemophilia?

A

Gums
Gastrointestinal tract
Urinary tract causing haematuria
Retroperitoneal space
Intracranial

312
Q

What is the main investigation for haemophilia?

A

aPTT would be increased due to the intrinsic pathway

Diagnosis would be made on bleeding scores and coagulation factor assays

313
Q

What is the management for haemophilia?

A

Infusions of deficient factor
Desmopressin to stimulate the release of vWF factor
Antifibrinolytics e.g., tranexamic acid

Emicizumab - mococlonal antibodies links clotting factors 9 and 10 together (basically synthietc clotting factor 8)

314
Q

Does haemophilia affect bleeding time?

A

NO

Haemophilia is a disorder of secondary haemostasis and does not affect platelets. Therefore bleeding time, a measure of primary haemostasis, is usually normal in haemophilia.

Bleed time test helps identify any disorder associated with the functioning of the platelets. Clotting time is the measure of the time taken in the formation of a clot after the bleeding has started.

315
Q

What is von Willebrand disease?

A

Von Willebrand disease (VWD) is the most common inherited cause of abnormal and prolonged bleeding. There are many underlying genetic causes,

316
Q

What is the inheritance of VWD?

A

Autosomal dominant

317
Q

What causes VWD?

A

There is a deficiency, absence or malfunctioning of a glycoprotein

Von Willebrand factor is important in platelet adhesion and aggregation in damaged vessels.

There are three types of von Willebrand disease:

Type 1 involves a partial deficiency of VWF and is the most common and mildest type
Type 2 involves the reduced function of VWF
Type 3 involves a complete deficiency of VWF and is the most rare and severe type

318
Q

What is the presentation of VWD?

A
  • Bleeding gums with brushing
  • Nose bleeds
  • Easy bruising
  • Heavy menstrual bleeding (menorrhagia)
  • Heavy bleeding during and after surgical operations
319
Q

What is the management of VWD?

A
  • Desmopressin stimulates the release of VWf in endothelial cells
  • Tranexamic acid
  • VWf infusion
  • Factor VIII plus von Willebrand factor infusion
320
Q

What are the symptoms of G6PD?

A

G6PD often presents with neonatal jaundice.

Other features of the condition are:

Anaemia
Intermittent jaundice, particularly in response to triggers
Gallstones
Splenomegaly

321
Q

What are some triggers of G6PD?

A
  • Broad beans
  • Infections
  • Antimalarial mediation

It is an X linked recessive disease

322
Q

What would be seen on a blood film in G6PD?

A

Heinz bodies

323
Q

What is ITP?

A

A condition characterised thrombocytopenia (low platelet count) causing a purpuric rash (non-blanching rash).

324
Q

What causes ITP?

A

A type II hypersensitivity reaction. It is caused by the production of antibodies that target and destroy platelts

325
Q

What is the presentation of ITP?

A

Usually presents in children under 10 years old. Often there is a history of a recent viral illness and symptoms occur over 24-48 hours:

  • Bleeding: from the gums, epistaxis or menorrhagia
  • Bruising
  • Petechial or purpuric rash, caused by bleeding under the skin
326
Q

What are the investigations for ITP?

A

Urgent full blood count for the platelet count. Other values on the FBC should be normal.

Other causes of a low platelet count should be excluded, for example heparin induced thrombocytopenia and leukaemia.

327
Q

What is the management of ITP?

A

Depends on how low the platelet count falls. Usually no treatment is required and patients are monitored until the platelets return to normal. Around 70% of patients will remit spontaneously within 3 months.

Some patients require:
- Prednisolone
- IV IG
- Blood transfusions
- Platelet transfusions

Platelet transfusions only work temporarily because the antibodies against platelets will begin destroying the transfused platelets as soon as they are infused.

328
Q

What needs to be avoided in ITP?

A
  • Avoid contact sports
  • Avoid IM injections and procedures such as a LP
  • Avoid NSAIDs, aspirin and blood thinning medications
329
Q

What is sickle cell disease?

A

Sickle cell anaemia is an autosomal recessive mutation in the beta chain of haemoglobin, resulting in sickling of red blood cells (RBCs) and haemolysis.

On Chromosome 11

330
Q

Outline the pathophysiology behind sickle cell anaemia - what type of haemoglobin do sickle cell patients have instead?

A

Sickle cell trait patient will have reduced levels of HbA,
Sickle cell disease patients have no HbA, and instead have abnormal HbS, which is made of 2 alpha chains and 2 abnormal beta chains.

331
Q

Outline the pathophysiology behind sickle cell anaemia - name some of the characteristics of HbS

A
  • HbS is prone tosicklingand haemolysis.
  • HbS carries oxygen well
    But when deoxygenated, HbS changes its shape, and clumps with other HbS proteins, causing the RBC to turn into a crescent shape
332
Q

What happens to repeated sickling of RBCs in sickle cell anaemia, and what does this lead to?

A
  • Repeated sickling of red blood cells damages their cell membranes and promotes premature destruction - haemolysis

This destruction of red blood cells leads to anaemia and more free haemoglobin in the blood.

333
Q

In order to counteract anaemia, in sickle cell disease, what does the bone marrow do?

A

To counteract the anaemia of sickle cell disease, the bone marrow makes increased numbers of reticulocytes. This can cause the bones to enlarge.

Extramedullary haematopoiesis can also happen - leading to splenomegaly.

334
Q

What are the crises that can occur in sickle cell disease?

A
  • Vaso-occlusive Crisis
  • Splenic Sequestration Crisis
  • Aplastic Crisis
  • Acute Chest Syndrome
335
Q

What is a sickle cell crisis?

A

Acute exacerbations caused by sickle cell disease can be caused by:
- Dehydration
- Infection
- Stress
- Cold weather

336
Q

How are sickle cell crises prevented?

A
  • Low threshold for admission
  • Keep warm
  • Good hydration
  • Analgesia (NSAID avoided in renal impairment)
  • Up-to-date vaccinations
  • Antibiotic prophylaxis to protect against infection, typically with penicillin V (phenoxymethylpenicillin)
337
Q

What is a vaso-occlusive crises?

A

Also known as a painful crisis and is the most common type of crisis.

It is caused by the sickle-shaped cells clogging the capillaries and causing distal ischaemia

It typically presents with pain and swelling in the hands or feet but can affect the chest, back, or other body areas. It can be associated with fever.

338
Q

What is a Splenic Sequestration Crisis?

A

When RBCs block blood flow to the spleen. It causes an enlarged and painful spleen.

Blood pooling in the spleen can lead to severe anaemia and hypovolaemic shock

Splenic sequestration crisis can lead to splenic infarction, leading to hyposplenism and susceptibility to infections, particularly by encapsulated bacteria (e.g., Streptococcus pneumoniae and Haemophilus influenzae).

Splenectomy prevents sequestration crises and may be used in recurrent cases.

339
Q

What is an aplastic crisis?

A

Aplastic crisis describes a temporary absence of the creation of new red blood cells. It is usually triggered by infection with parvovirus B19.

It leads to significant anaemia (aplastic anaemia). Management is supportive, with blood transfusions if necessary. It usually resolves spontaneously within around a week.

340
Q

What is acute chest syndrome?

A

When the vessels supplying the lungs become clogged with RBCs

A vaso-occlusive crisis, fat embolism or infection can trigger it.

341
Q

What are the symptoms and what is the treatment of acute chest syndrome?

A

Fever, shortness of breath, chest pain, cough and hypoxia

Treatment with:
- Analgesia
- Good hydration
- Antibiotics/antivirals
- Blood transfusion
- Incentive spirometry to encourage effective and deep breathing
- Respiratory support

342
Q

What will a chest x-ray show in acute chest syndrome?

A

Pulmonary infiltrates

343
Q

What is the management of sickle cell disease?

A
  • Hydroxycarbamide
  • Crizanlizumab
  • Blood transfusions
  • Bone marrow transplant
344
Q

How do hydroxycarbamide and Crizanlizumab work?

A

Hydroxycarbamide: works by stimulating the production of fetal haemoglobin (HbF). Fetal haemoglobin does not lead to the sickling of red blood cells (unlike HbS). It reduces the frequency of vaso-occlusive crises, improves anaemia and may extend lifespan

Crizanlizumab: is a monoclonal antibody that targets P-selectin. P-selectin is an adhesion molecule found on endothelial cells on the inside walls of blood vessels and platelets. It prevents red blood cells from sticking to the blood vessel wall and reduces the frequency of vaso-occlusive crises.

345
Q
A

3A (11 decks)

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