Paediatrics 3 Flashcards

Question

What is fragile X syndrome?

Answer 1

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

Answer 2

X-linked but unclear whether it is dominant or recessive. Males are always affected but it varies how much females are affected

Answer 3

Usually presents with a delay in speech and language development - Intellectual disability - Long narrow face - Large ears - Large testicles - Hypermobile joints - ADHD - Autism - Seizures

Answer 4

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

Answer 5

cystic fibrosis transmembrane conductance regulatory gene on **chromosome 7**

Answer 6

- 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

Answer 7

- 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

Answer 8

- Thickened secretions within small and large bowel can make it difficult to pass stools resulting in bowel obstruction

Answer 9

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

Answer 10

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

Answer 11

- 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

Answer 12

**meconium ileus**

Answer 13

- 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

Answer 14

- Low weight - Nasal polyps - Finger clubbing - Crackles and wheezes - Abdominal distension

Answer 15

- 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 particularly salty when they kiss them, due to the concentrated salt in the sweat

Answer 16

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

Answer 17

The sweat test

Answer 18

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

Answer 19

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

Answer 20

- 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

Answer 21

- 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

Answer 22

. 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

Answer 23

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.

Answer 24

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

Answer 25

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

Answer 26

**X linked recessive** condition

Answer 27

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

Answer 28

Dilated cardiomyopathy

Answer 29

Child struggles to get up from lying down (GOWER's sign) Skeletal deformities

Answer 30

Creatinine kinase **Check this in any boy not walking by 18 months**

Answer 31

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.

Answer 32

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

Answer 33

. 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.

Answer 34

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

Answer 35

Myotonic dystrophy is a genetic disorder that usually presents in adulthood. Typical features are: Progressive muscle weakness Prolonged muscle contractions Cataracts Cardiac arrhythmias

Answer 36

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.

Answer 37

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

Answer 38

- 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

Answer 39

Fertility is preserved in Noonan

Answer 40

Water fascination, happy demeanour and widely spaced teeth

Answer 41

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.

Answer 42

**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

Answer 43

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

Answer 44

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.

Answer 45

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

Answer 46

- Very sociable personality - Starburst eyes - Wide mouth - Big smile

Answer 47

- Supravalvular aortic stenosis (narrowing just above the aortic valve) - ADHD - Hypertension - **Hypercalcaemia**

Answer 48

A inherited condition that leads to bone weakness in children. It is due to a defect in type 1 collagen genes

Answer 49

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

Answer 50

It presents with recurrent and inappropriate fractures - **Hypermobility** - **Blue/grey sclera** - Triangular face - Short stature - Deafness - Dental problems - Bone deformities - Joint and bone pain

Answer 51

- 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**

Answer 52

The silence classification

Answer 53

Bisphosphates Vit D supplementation

Answer 54

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

Answer 55

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.

Answer 56

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.

Answer 57

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.

Answer 58

- Darker skin - Low exposure to sunlight - Poor diet - Colder climate

Answer 59

- Lethargy - Bone pain - Swollen wrists - Bone deformity - Por growth - Dental problems - Muscle weakness - Pathological fractures

Answer 60

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

Answer 61

**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

Answer 62

X-ray will show osteopenia

Answer 63

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

Answer 64

**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.

Answer 65

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**

Answer 66

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.

Answer 67

Treat with simple analgesia. The challenge is to establish the correct diagnosis and exclude other pathology.

Answer 68

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

Answer 69

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.

Answer 70

Most common age is under 4 Mortality is 10%

Answer 71

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

Answer 72

Staphylococcus aureus

Answer 73

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

Answer 74

Transient sinovitis Perthes disease Slipped upper femoral epiphysis Juvenile idiopathic arthritis

Answer 75

- 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**

Answer 76

- 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

Answer 77

An infection in the bone and bone marrow.

Answer 78

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

Answer 79

More common in boys and children under 10: - Open bone fracture - Surgery - Immunocompromised - Sickle cell anaemia - HIV - TB

Answer 80

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

Answer 81

X-rays are often the initial investigation but can be normal MRI is the best for establishing a diagnosis

Answer 82

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

Answer 83

Kochers Criteria T>38.5 CRP>20 ESR>40 WCC>12 Cannot weight bear 3/4 = septic joint.

Answer 84

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

Answer 85

Imprinting

Answer 86

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.

Answer 87

A soft a deformed femoral head leading to early hip OA. This leads to an artificial hip replacement in 5% of patients

Answer 88

- Most common between 5-8 and more common in boys 5:1 ratio

Answer 89

- 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.

Answer 90

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

Answer 91

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

Answer 92

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

Answer 93

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

Answer 94

External rotation There will be restricted internal rotation of the hip

Answer 95

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

Answer 96

Surgery to return the femoral head to the correct place

Answer 97

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

Answer 98

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

Answer 99

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.

Answer 100

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

Answer 101

10-15 and is more common in boys

Answer 102

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

Answer 103

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

Answer 104

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.

Answer 105

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.

Answer 106

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.

Answer 107

- Weakness -Recurrent subluxation and dislocation - Abnormal gait - Early degenerative changes

Answer 108

- Family history - Breech presentation from 36 weeks onwards - Breech presentation at birth for 28 weeks onwards - Multiple pregnancy

Answer 109

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

Answer 110

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

Answer 111

Ortolani test Barlow test

Answer 112

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.

Answer 113

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.

Answer 114

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.

Answer 115

**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

Answer 116

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.

Answer 117

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

Answer 118

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

Answer 119

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. :

Answer 120

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

Answer 121

Antinuclear antibodies and rheumatoid factors are typically negative. There will be raised inflammatory markers, with raised CRP, ESR, platelets and serum ferritin.

Answer 122

**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**.

Answer 123

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

Answer 124

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.

Answer 125

- 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

Answer 126

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.

Answer 127

Anterior uveitis **antinuclear antibodies** are often positive but RF is negative

Answer 128

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.

Answer 129

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

Answer 130

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.

Answer 131

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

Answer 132

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

Answer 133

Symmetrical polyarthritis affecting the small joints Or an asymmetrical arthritis affecting the large joints of the lower limb

Answer 134

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

Answer 135

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

Answer 136

Condition that causes a **lateral curvature of the spine** This leads to bending of the spine and poor posture, even lead to cardiorespiratory failure

Answer 137

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

Answer 138

– If minor –>can self-resolve – If severe –> may require bracing and physiotherapy, else surgery is needed

Answer 139

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

Answer 140

– 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

Answer 141

– Physical therapy like stretching helps and it usually self-resolves within a few days – If unresolving, surgery may be required

Answer 142

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

Answer 143

* Trauma * Transient synovitis (irritable hip) * Infection * Perthes disease * Juvenile idiopathic arthritis * Malignancy, e.g. leukaemia

Answer 144

* Trauma * Infection * Slipped upper femoral epiphysis * Juvenile idiopathic arthritis * Malignancy, e.g. osteogenic sarcoma Perthe's disease.

Answer 145

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

Answer 146

- 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

Answer 147

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

Answer 148

- Dry vigorously with towel - Place the babies head in a neutral position to keep airway open - Check for airway obstruction

Answer 149

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%.

Answer 150

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

Answer 151

Therapeutic hypothermia with active cooling.

Answer 152

**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

Answer 153

It affects premature neonates born before the lungs start producing adequate **Surfactant** . Chest X-ray will show a **ground glass** appearance

Answer 154

- 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**

Answer 155

- 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

Answer 156

Pneumothorax Infection Apnoea Intraventricular haemorrhage Pulmonary haemorrhage Necrotising enterocolitis

Answer 157

Chronic lung disease of prematurity Retinopathy of prematurity occurs more often and more severely in neonates with RDS Neurological, hearing and visual impairment

Answer 158

- 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**

Answer 159

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

Answer 160

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**

Answer 161

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.

Answer 162

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.

Answer 163

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

Answer 164

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)

Answer 165

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

Answer 166

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

Answer 167

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

Answer 168

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.

Answer 169

- Maternal shock - Intrapartum haemorrhage - Prolapsed cord - Nuchal cord (wrapped round neck)

Answer 170

Sarnat staging

Answer 171

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

Answer 172

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

Answer 173

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

Answer 174

**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.

Answer 175

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

Answer 176

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)

Answer 177

- Fetal growth restriction - Microcephaly - Hearing loss - Vision loss - Learning disability - Seizures

Answer 178

- Congenital cataracts - Heart disease (PDA and pulmonary stenosis) - Learning disability - Hearing loss

Answer 179

- Pneumonitis, hepatitis or encephalitis - Fetal varicella syndrome - Severe neonatal varicella infection if mum is infected around delivery

Answer 180

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)

Answer 181

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.

Answer 182

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

Answer 183

- Prematurity - Breast milk jaundice - Neonatal cholestasis - Extrahepatic biliary atresia - Endocrine disorders (hypothyroid and hypopituitary) - Gilbert syndrome

Answer 184

In the first 24 hours

Answer 185

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.

Answer 186

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.

Answer 187

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.

Answer 188

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.

Answer 189

- FBC and blood film - Conjugated bilirubin - Blood type testing - Direct coombs test: for haemolysis - Thyroid function - G6PD levels

Answer 190

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.

Answer 191

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.

Answer 192

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

Answer 193

- Very low birth weight/very premature - Formula feeds - Respiratory distress - Sepsis - PDA and other congenital heart diseases

Answer 194

- Intolerance to feed - Vomiting, particularly green bile - Distended tender abdomen - Absent bowel sounds - Blood in stools

Answer 195

FBC- for thrombocytopenia and neutropenia - CRP - Capillary blood gas will show metabolic acidosis - Blood culture **Abdominal x-ray is the investigation for diagnosis**

Answer 196

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

Answer 197

- 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

Answer 198

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

Answer 199

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**

Answer 200

- 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.

Answer 201

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).

Answer 202

- 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 have**cystic fibrosis**

Answer 203

- 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

Answer 204

- Irritability - Weight loss - Tachycardia - Heart failure - Diarrhoea - Exophthalmos in the first 2 weeks of life Treat with anti thyroid drugs until condition resolves.

Answer 205

- 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

Answer 206

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,

Answer 207

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

Answer 208

Group B strep E Coli Listeria monocytogenes

Answer 209

- 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)

Answer 210

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

Answer 211

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

Answer 212

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.

Answer 213

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.

Answer 214

IV amoxicillin and gentamicin

Answer 215

HSV-1 from cold sores

Answer 216

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

Answer 217

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

Answer 218

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.

Answer 219

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

Answer 220

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

Answer 221

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.

Answer 222

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

Answer 223

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

Answer 224

Anaemia of prematurity Blood loss Haemolysis Twin-twin transfusion

Answer 225

- Haemolytic disease of the newborn - Hereditary spherocytosis - G6PD

Answer 226

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

Answer 227

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

Answer 228

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

Answer 229

**Helminth infection** with roundworms, hookworms or whipworms The treatment is with **albendazole or mebendazole**

Answer 230

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

Answer 231

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

Answer 232

B12 deficiency Folate deficiency

Answer 233

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

Answer 234

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

Answer 235

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.

Answer 236

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.

Answer 237

Tiredness Shortness of breath Headaches Dizziness Palpitations Worsening of other conditions

Answer 238

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

Answer 239

Pale skin Conjunctival pallor Tachycardia Raised respiratory rate

Answer 240

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

Answer 241

Transferrin Saturation = Serum Iron / Total Iron Binding Capacity

Answer 242

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.

Answer 243

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.

Answer 244

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.

Answer 245

Autosomal recessive

Answer 246

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).

Answer 247

- Microcytic anaemia - Fatigue - Pallor - Jaundice - Gallstones - Splenomegaly - Poor growth and development - Pronounced forehead and malar eminences

Answer 248

- FBC - Haemoglobin electrophoresis - DNA testing

Answer 249

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

Answer 250

- Fatigue - Liver cirrhosis - Infertility - Impotence - HF - Arthritis - Diabetes - Osteoporosis and joint pain

Answer 251

chromosome 16

Answer 252

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

Answer 253

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

Answer 254

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

Answer 255

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

Answer 256

Carriers of an abnormally functioning beta globin gene. They have one abnormal and one normal gene. Thalassaemia minor causes mild microcytic anaemia

Answer 257

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*

Answer 258

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

Answer 259

- 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

Answer 260

- **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 only **curative** option recommended in those with severe disease

Answer 261

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

Answer 262

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

Answer 263

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

Answer 264

A degradation problem e.g. bleeding or haemolysis.

Answer 265

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

Answer 266

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

Answer 267

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.

Answer 268

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.

Answer 269

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.

Answer 270

- Anaemia due to reduced RBCs - Infection due to reduced WBCs especially neutrophils - Bruising and bleeding due to thrombocytopenia

Answer 271

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

Answer 272

Macrocytic

Answer 273

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

Answer 274

aPTT - activated partial thromboplastin time PT - Prothrombin time

Answer 275

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

Answer 276

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 )

Answer 277

Haemophilia A is caused by a deficiency in **factor VIII.**

Answer 278

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

Answer 279

- Liver failure - Vitamin K deficiency - Autoimmune - DIC

Answer 280

- 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

Answer 281

Gums Gastrointestinal tract Urinary tract causing haematuria Retroperitoneal space Intracranial

Answer 282

aPTT would be increased due to the intrinsic pathway Diagnosis would be made on bleeding scores and coagulation factor assays

Answer 283

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)

Answer 284

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.*

Answer 285

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

Answer 286

Autosomal dominant

Answer 287

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

Answer 288

- Bleeding gums with brushing - Nose bleeds - Easy bruising - Heavy menstrual bleeding (menorrhagia) - Heavy bleeding during and after surgical operations

Answer 289

- Desmopressin stimulates the release of VWf in endothelial cells - Tranexamic acid - VWf infusion - Factor VIII plus von Willebrand factor infusion

Answer 290

G6PD often presents with neonatal jaundice. Other features of the condition are: Anaemia Intermittent jaundice, particularly in response to triggers Gallstones Splenomegaly

Answer 291

- Broad beans - Infections - Antimalarial mediation It is an X linked recessive disease

Answer 292

**Heinz bodies**

Answer 293

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

Answer 294

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

Answer 295

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

Answer 296

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.

Answer 297

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.

Answer 298

- Avoid contact sports - Avoid IM injections and procedures such as a LP - Avoid NSAIDs, aspirin and blood thinning medications

Answer 299

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**

Answer 300

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.*

Answer 301

- HbS is prone to sickling and 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***

Answer 302

- 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.**

Answer 303

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.

Answer 304

- Vaso-occlusive Crisis - Splenic Sequestration Crisis - Aplastic Crisis - Acute Chest Syndrome

Answer 305

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

Answer 306

- 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)

Answer 307

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.

Answer 308

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.

Answer 309

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.

Answer 310

When the vessels supplying the lungs become clogged with RBCs A vaso-occlusive crisis, fat embolism or infection can trigger it.

Answer 311

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

Answer 312

Pulmonary infiltrates

Answer 313

- Hydroxycarbamide - Crizanlizumab - Blood transfusions - Bone marrow transplant

Answer 314

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.

Paediatrics 3 Flashcards

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