PAEDIATRICS Flashcards
(279 cards)
1
Q
Describe the haemoglobin concentration at birth and over the first few weeks of life
A
At birth - fetal Hb in term infants is high to compensate for low oxygen concentration in the foetus
Levels decline over first 6 months as adult Hb synthesis is activated and HbF deactivated
2
Q
What is the difference between fetal and adult haemoglobin?
A
HbF has a gamma subunit instead of beta which decreases binding to 2,3-BPG, a substance that decreases affinity of haemoglobin for oxygen
Therefore HbF has greater affinity for oxygen
3
Q
Define anaemia
A
Haemoglobin level below the normal range
4
Q
Give 3 broad causes of anaemia
A
Decreased RBC production
Increased RBC haemolysis
Blood loss
5
Q
What is anaemia of prematurity?
A
Anaemia affecting preterm infants with decreased RBCs - typically due to repeated blood sampling and reduced erythropoiesis with low EPO levels
6
Q
What is ineffective erythropoiesis?
A
Premature death of RBCs due to dysfunctional progenitor cells. Normal reticulocytes but lack of mature RBCs
7
Q
What are the 3 main causes of iron deficiency anaemia?
A
Inadequate intake - common in children as more is needed to accumulate increasing blood volume and to build stores
Malabsorption
Bleeding
8
Q
What is a cause of inadequate intake of iron in children?
A
Delayed weaning onto solids as milk does not contain enough
9
Q
Symptoms of iron deficiency anaemia (4)
A
Fatigue
Slow feeding
Pallor
Pica - eating non food
10
Q
Signs/diagnosis of iron deficiency anaemia (3)
A
MICROCYTIC (small rbcs)
HYPOCHROMIC (pale rbcs)
Low serum ferritin
11
Q
Management of iron deficiency anaemia (3)
A
Dietary advice
Oral iron supplements
Continue for 3 months after normal Hb level
If refractory, Ixs e.g. for coeliac, Meckel’s
12
Q
3 types of microcytic anaemia
A
Iron deficiency
Thalassaemia
Anaemia of chronic disease
13
Q
3 types of normocytic anaemia
A
Blood loss
Aplastic anaemia
Sickle cell anaemia
Haemolytic anaemia i.e. G6PD deficiency
14
Q
3 types of macrocytic anaemia
A
Pernicious anaemia (autoimmune) B12 deficiency Folate deficiency
15
Q
What is sickle cell disease?
A
Collective name for HbS inherited haemoglobinopathies
16
Q
Cause of sickle cell disease
A
Genetic, point mutation in codon 6 of beta globin gene cusing amino acid from glutamine to valine, forming HbS instead of HbA
17
Q
4 types of sickle cell disease
A
Sickle cell anaemia (HbSS)
HbSC disease
Sickle trait (one allele)
Sickle beta thalassaemia
18
Q
Effect of HbS on blood cells
A
Causes irreversibly sickled red blood cells with reduced lifespan
Can get trapped, causing vaso-occlusion and ischaemia
19
Q
What exacerbates sickle cell anaemia? (3)
A
Hypoxaemia, dehydration, cold
20
Q
Symptoms of sickle cell anaemia (10)
A
Anaemia Jaundice Susceptibility to infection Vaso-occlusive crises Sequestration crises Splenomegaly Risk of stroke Cardiomegaly/heart failure Renal dysfunction
21
Q
What are vaso-occlusive crises?
A
Episodes of pain caused by ischaemia of tissue usually preceded by infection - symptoms depend on tissue affected
Can include priapism, dactylitis, abdominal pain, acute chest syndrome
22
Q
What ethnic groups is sickle cell disease more common in and why?
A
Africa, Hispanic, Mediterranean origin
Sickle shape of RBCs afford some protection against malaria
23
Q
What is acute chest syndrome?
A
Vaso-occlusive crisis caused by infarction of the lung parenchyma, can be fatal
24
Q
How does acute chest syndrome present? (6)
A
Fever Cough Pain Sputum SoB Low oxygen
25
Treatment of acute chest syndrome
```
Hydroxyurea can prevent
Broad spectrum antibiotics
Pain control
Blood transfusion
Exchange transfusion
```
26
What is a sequestration crisis?
Acute painful enlargement of the spleen, caused by intrasplenic trapping of RBCs and resulting in fall in Hb level
27
Complications of sequestration crisis
Shock
| Circulatory failure and death
28
How is sequestration crisis treated
Supportive
| Blood transfusion
29
General management of sickle cell anaemia (5)
```
Ensure full immunisation
Daily penicillin in childhood
Folic acid
Avoid crisis triggers
Possible hydroxyurea
```
30
Management of severe, refractory sickle cell anaemia
HLA identical bone marrow transplant
31
How would haemophilia present in the neonate?
Intracranial haemorrhage
32
How would haemophilias present in adolescence?
Menorrhagia
33
How are haemophilia A and B inherited?
X linked recessive - in males
34
Symptoms of haemophilia (5)
```
Bleeding i.e. unexplained from cuts
Large/deep bruises
Blood in urine/stool
Nosebleeds
Severe - bleeding into joints and muscles
40% present neonatally
```
35
Management of haemophilia A
Recombinant factor VIII for acute bleeds or prophylaxis if severe
Desmopressin if mild
36
Management of haemophilia B
Recombinant factor IX for acute bleeds or prophylaxis if severe
37
What is von Willebrands disease?
Deficiency of von Willebrand's factor, causing defective platelet plugs
38
Symptoms of von Willebrand's disease
Bruising
Prolonged bleeding
Nosebleeds
Menorrhagia
39
Management of von Willebrand's disease
Mild with desmopression
| Severe with plasma derived factor VIII concentrate
40
What is immune thrombocytopaenic purpura?
Caused by destruction of circulating platelts by anti-platelet IgG autoantibodies
41
When do most cases of immune thrombocytopaenic purpura present
Between 2-10 years, often 1-2 weeks after viral infection
42
Symptoms of immune thrombocytopaenic purpura (3)
Petechiae
Purpura
Superficial bruising
43
What is the most common form of immune thrombocytopaenic purpura
80% is acute, benign and self limiting, remitting spontaenously in 6-8 weeks
44
Treatment of immune thrombocytopaenic purpura
Most do not need treatment
Treat major bleeds with oral prednisolone, platelet transfusions
Splenectomy if chronic/severe
Anti-D, rituximab to reduce splenectomy rate
45
What are the 6 things to consider in the febrile child
```
Temperature and assessment
Age - viral rare < 3 months
Risk factors - travel, family ill
Red flags - high fever, mottled/blue, low GCS
Rash
Focus of infection - URTI
```
46
What must be considered in the febrile child if there is no focus of infection
Serious bacterial infection i.e. UTI, septicaemia
47
How do viral infections in the child commonly present
Fever and a rash
48
List the herpes viruses
```
Herpes simplex virus 1 and 2
Varicella zoster virus
Epstein-Barr virus
Human cytomegalovirus
Human herpesvirus 6-8
```
49
What is HSV1 associated with
Lip and skin lesions
50
What is HSV2 associated with
Genital lesions
51
How does primary HSV1 present in children (3)
```
Gingivostomatitis (fever, painful ulcers in mouth)
Eczema herpeticum (lesions on eczematous skin)
Herpetic whitlow (lesion on finger)
```
52
What is the natural progession of varicella zoster infection
High temperature
2-500 lesions start on head and trunk, progress to peripheries
Persists for around a week
Normally self limiting
53
3 serious childhood complications of VZV
Serious bacterial infection
Encephalitis
Purpura fulminans (acute thrombotic disorder - blood spots and discolourisation can lead to DIC, skin necrosis)
54
Action if a pregnant/immunocompromised adult comes into contact with VZV
Give human varicella zoster immunoglobulin
55
What is shingles?
Herpes zoster
| Reactivation of latent varicella zoster, uncommon in children
56
Symptoms of shingles (3)
Vesicular eruption in the dermatomal distribution of sensory nerves
Headache, fever, paraesthesia
Disseminated can cause hepatitis or encephalitis
57
What does EBV cause?
Causes glandular fever - infectious mononucleosis persists for 1-3 months
Involved in pathogenesis of lymphoma
58
Symptoms of EBV (5)
```
Fever
Malaise
Tonsillopharyngitis
Lymphadenopathy
Splenomegaly
```
59
How is EBV diagnosed
Large T cells on blood film
Positive monospot test
IgM/IgG anti EBV antibodies
60
How is cytomegalovirus transmitted
Saliva, genital secretions, breast milk
61
What is a serious condition CMV can cause
Normally mild
| Can cause mononucleosis syndrome - pharyngitis, lymphadenopathy
62
Transmission of HHV6-7
Oral transmission
63
What does HHV6-7 cause
Roseola infantum - high fever, malaise, generalised macular rash
64
What does parvovirus B19 cause
Erythema infectiosum - slapped cheek syndrome
65
Symptoms of parvovirus B19 (5)
Fever, malaise, headache, myalgia
| 1 week later facial rash progressing to trunk
66
How does measles spread
Highly infectious droplet spread
67
Symptoms of measles (5)
```
Fever
Rash
Koplik's spots - white on buccal mucosa
Cough and cold
Conjunctivitis
```
68
3 serious complications of measles
Encephalitis
Secondary bacterial infection
Subacute sclerosing panencephalitis
69
How does mumps spread
Droplet infection
70
Symptoms of mumps (4)
Fever
Malaise
Parotitis
Transient hearing loss
71
When is rubella most harmful to develop
Mild in childhood
| Can cause serious harm if infects a foetus
72
What is Kawasaki disease?
Systemic vasculitis - unknown cause, not contagious
73
Symptoms of Kawasaki disease (8)
```
Fever
Red mucous membranes
Non purulent conjunctivitis
Cervical lymphadenopathy
Strawberry tongue
Rash
Red oedematous palms/soles
Peeling of digits
```
74
Complications of Kawasaki disease
Coronary artery aneurysm
| Death
75
Treatment of Kawasaki disease
IV immunoglobulins
| Aspirin
76
General treatment for viral disease in children
Supportive
| If severe, aciclovir
77
What are some common malignancies in children? (6)
```
ALL
Intracranial neoplasm
Lymphoma
Neuroblastoma
Wilms tumour
Retinoblastoma
```
78
What is the most common leukaemia in children?
ALL
| acute lymphoblastic leukaemia
79
When does ALL present?
Mostly between age 2-5
| Insidious over several weeks
80
Diagnosis of ALL (4)
Decreased Hb
Decreased platelets
Circulating blast cells
Bone marrow biopsy
81
What chromosome is associated with poor prognosis of ALL?
Philadelphia chromosome
82
Symptoms of ALL (8)
```
Malaise
Anorexia
Pallor/lethargy from anaemia
Infection (neutropaenia)
Easy bruising/bleeding
Bone pain
Hepatosplenomegaly
Lymphadenopathy
```
83
Treatment of ALL (4)
Chemotherapy - induction, intensification, maintenance for 2-3 years (vincristine, dexamethasone, methotrexate common)
CNS protection
Also treat anaemia, give platelet transfusion, treat infection
Allopurinol for renal protection
84
Treatment of relapsed ALL (3)
High dose chemotherapy
Total body irradiation
Bone marrow transplant
85
What is lymphoma and what are the types?
Malignancies of immune system cells - non Hodgkin more common in childhood, Hodgkin in adolescence and rarer
86
Congenital disease associated with ALL
Down's syndrome
87
Usual features of non Hodgkin lymphoma (5)
```
T or B cell malignancy
Localised lymph node swelling
B symptoms - night sweats, weight loss, fever, cough
Abdominal mass
Bone marrow infiltration
```
88
Diagnosis of non Hodgkin lymphoma (4)
Lymph node biopsy
CT/MRI of nodes
Bone marrow biopsy
CSF sample
89
Treatment of non Hodgkin lymphoma
Multi agent chemotherapy
90
Symptoms of Hodgkin lymphoma
Painless lymphadenopathy in the neck - may obstruct airway
| B symptoms less common
91
Diagnosis of Hodgkin lymphoma (3)
Lymph node biopsy
Bone marrow biopsy
CT/MRI of nodes
92
Management of Hodgkin lymphoma
Multi agent chemotherapy
| Possible radiotherapy
93
What are the survival rates for ALL, NHL and HL
ALL 90%
| Lymphomas ~80%
94
What is osteomyelitis?
Infection of the metaphysis of the long bones, may spread to the joint causing septic arthritis
95
Most common cause of osteomyelitis
Staphylococcus aureus, haematogenous spread
96
How does osteomyelitis present (5)
```
Painful, immobile limb
Swelling and tenderness
Red and warm
Febrile child
Joint effusion
```
97
Diagnosis of osteomyelitis
Positive blood cultures
High WBC, CRP, ESR
X ray
MRI
98
What is seen on X ray of osteomyelitis
Initial soft tissue swelling, then new subperiosteal bone
99
How is osteomyelitis treated
Antibiotics for several weeks to prevent necrosis, chronic infection, deformity
Surgical drainage if needed
100
What is septic arthritis?
Inflammation of a joint caused by bacterial infection (staph a), most common in knees and hips
101
Symptoms of septic arthritis
Acute onset pain, redness, swelling, heat
High fever
Pain worse on movement
102
Diagnosis of septic arthritis (3)
High WCC, ESR
USS shows fluid in joint
X ray shows widened joint space
103
How is septic arthritis treated?
Joint aspiration
| Prolonged antibiotics - IV cefuroxime 2w then 4w oral
104
What is transient synovitis?
Most common cause of acute hip pain in children 3-10
| Transient inflammation of the hip joint, possibly due to a recent infection
105
How does transient synovitis present?
Acute limp
No/mild fever
Pain on movement - irritable hip
106
How is transient synovitis treated?
Supportive care
Pain relief (NSAIDs)
Non weightbearing
107
What is Perthes disease?
Avascular necrosis of the femoral epiphysis (femoral head)
108
What group does Perthes disease commonly affect?
Boys aged 5-10
109
What causes Perthes disease?
Can follow transient synovitis or other inflammation, trauma etc.
Interruption of the blood supply followed by slow revascularisation and reossification - can cause permanent deformity.
110
What is seen on X ray in Perthes disease?
Flattening of the femoral head, fragmentation
111
What is JIA?
Juvenile idiopathic arthritis
Most common chronic inflammatory joint disease in children - persistent joint swelling for >6 weeks in the absence of any other cause
Autoimmune.
112
What are the 5 types of JIA?
Oligoarthritis <4 joints, not symmetrical, large joints
Polyarthritis >4 joints, symmetrical, marked finger involvement
Systemic with fever, 'salmon' pink rash, myalgia
Psoriatic with psoriasis, joint problems may precede skin
Enthesitis with tendon/ligament swelling, lower limb, back pain
113
What is enthesitic JIA linked with?
Ankylosing spondylitis
| IBD
114
Symptoms of JIA?
Morning stiffness/stiffness after rest
Pain
Limp
Joint swelling/inflammation
115
Complications of JIA? (4)
Joint contracture/fibrosis
Chronic anterior uveitis (inflammation of the uvea in the eye - often asymptomatic but can cause glaucoma, cataracts, blindness)
Growth retardation
Osteoporosis
116
Treatment of JIA (7)
```
NSAIDs and analgesia
Joint injections
Methotrexate
Systemic corticosteroids
Cytokine modulators/immunotherapy
Joint replacement
Therapy
```
117
What is osteogenesis imperfecta?
Disorders of collagen metabolism causing bone fragility, bowing and frequent fractures. Joint laxity.
118
What are the types of osteogenesis imperfecta?
I - most common, mildest
II - lethal
III - progressive
IV - moderate
119
What are the features of type I osteogenesis imperfecta? (5)
Autosomal dominant
Fragility, some fractures during childhood
Blue sclerae
Hearing loss
Treat with bisphosphonates, splint fractures
120
What are the features of type II osteogenesis imperfecta?
Autosomal dominant or new mutation
Severe lethal form
Multiple fractures before birth, many stillborn or die in first year
121
What is the commonest cause of arthritis in children?
Reactive arthritis
122
How does reactive arthritis present?
Transient joint swelling in ankles/knees
| Follows extra-articular infection
123
What bacteria cause reactive arthritis in children?
Enteric - salmonella, campylobacter, shigella
124
How is reactive arthritis treated?
NSAIDs
125
5 symptoms of growing pains in children
```
Lower limbs
At night
3-12 year olds
Never on waking
Symmetrical
```
126
What is genu varum?
Bow legs - broad gait, due to rickets
127
What is genu valgum?
Knock-knees
128
What is pes planus?
Flat feet
129
What is talipes equinovarus?
Club foot - inverted and supinated foot
| Positional talipes occurs due to intrauterine compression and can be corrected by compression/exercises
130
What is pes cavus?
High arches
131
When are hips checked in babies?
Neonatal check and at 8 weeks. Extra thigh crease!
132
Risk factor for developmental dysplasia of the hip
Female
Breech
Multiple birth
Oligohydramnios
133
How is developmental dysplasia of the hip managed
Splint/harness to keep hip flexed and abducted - Pavlik harness
134
What is cerebral palsy?
Abnormality of movement and posture causing activity limitation attributed to non-progressive disturbances that occurred in the developing brain. Lesion is non-progressive but manifestations emerge over time as brain matures abnormally
135
General symptoms of cerebral palsy
Motor problems often accompanied by cognitive, communication, perception, sensation, behaviour and seizure problems, with possible MSK issues
136
What are the causes of cerebral palsy?
80% antenatal due to vascular occlusion, neuronal migration disorder, structural maldevelopment
10% due to hypoxic-ischaemic injury during birth
10% postnatal - trauma, infection, non accidental injury
137
Give 6 early features of cerebral palsy
```
Abnormal limb/trunk posture and tone
Delayed motor milestones
Feeding difficulties
Abnormal gait
Asymmetric function
Persistent primitive reflexes
```
138
What are the 3 main subtypes of cerebral palsy? Investigations?
Spastic - 90%
Dyskinetic - 6%
Ataxic - 4%
May be mixed
development exam, clinical, possibly MRI
139
Features of spastic cerebral palsy (3)
```
Damage to UMNs
Increased tone! and brisk reflexes
Babinski sign
Seizures
Can be hemiplegic, quadriplegic or diplegic
```
140
Features of dyskinetic cerebral palsy (3)
Involuntary movements
Variable tone
Primitive reflexes dominate
141
Features of ataxic cerebral palsy (3)
Mostly genetic
Symmetrical hypotonia
Incoordinate movements
142
Management of cerebral palsy (3)
Symptomatic i.e. improving gait and walking, benzodiazepines, anti-epileptics, analgesia
Botulinum toxin for focal/segmental spasticity in upper or lower limb
Multidisciplinary care i.e. physiotherapy, occupational therapy, speech and language
143
What are the main 5 types of brain tumour in children
Astrocytoma 40% - varying from benign to very malignant glioblastoma multiforme
Medulloblastoma 20% - may have spinal mets
Ependymoma
Craniopharyngioma
144
What are symptoms of brain tumours due to?
Raised intracranial pressure
145
What are the symptoms of brain tumours in children? (3)
Headache worse in the morning
Vomiting on waking
Behaviour/personality change
Visual disturbance/papilloedema
146
What are 3 signs of a brain tumour in an infant
Tense fontanelle
Increased head circumference
Developmental delay
147
Rarer symptoms of brain tumours depending on location (4)
Hemiplegia if cortex
Pituitary failure if midline
Coordination problems if cerebellar
Cranial nerve defects if brainstem
148
Best investigation for brain tumour?
Head MRI
149
Treatment for brain tumours?
Surgery to treat hydrocephalus, get a biopsy, resect tumour - some are inoperable due to site
Possible radio/chemotherapy depending on type
150
What is meningitis?
Inflammation of the meninges covering the brain, confirmed by inflammatory cells in the CSF
151
Types of meningitis
Viral - most common, mostly self limiting
| Bacterial - over 80% are <16, 5-10% mortality and 10% serious impairment
152
Damage in meningitis is because of what?
The host response to bacteria - cerebral oedema, increased ICP, decreased cerebral blood flow, cortical infarction
153
What is the most common cause of meningitis in neonates
Group B strep
E coli
Listeria monocytogenes
154
What is the most common cause of meningitis in children
Neisseria meningitidis
strep pneumoniae
haemophilia influenzae
155
Symptoms of meningitis (9)
```
Fever
Headache
Photophobia
Lethargy
Vomiting
Irritability
Decreased consciousness
Seizures
Drowsiness
```
156
Signs of meningitis (7)
```
Fever
Rash (purpuric=meningococcal disease)
Neck stiffness
Bulging fontanelle in infants
Arched back
Brudzinski/Kernig signs
Signs of shock
```
157
Investigations of meningitis (4)
Lumbar puncture and CSF analysis if no raised ICP
Blood cultures
Urine sample
Throat swab
158
Treatment of meningitis
Cefotaxine or ceftriaxone
Dexamethasone
Prophylaxis for contacts with rifampicin
159
Complications of meningitis
```
Hearing loss
Cerebral infarction
Subdural effusion
Hydrocephalus
Abscess
```
160
What is meningococcal infection?
Septicaemia usually accompanied by non-blanching purpuric rash which spreads across whole body
161
Treatment of meningococcal infection
IM benzylpenicillin then admitted
162
What is epilepsy?
Chronic neurological disorder characterised by recurrent unprovoked seizures, consisting of transient symptoms associated with excessive/abnormal activity
163
What is the cause of epilepsy? (6)
```
Mostly idiopathic
Cerebral malformation
Vascular occlusion
Infection
Tumour
Trauma
```
164
What are focal seizures?
Arise from only one hemisphere of the brain and manifestations depend on what lobe is affected (frontal/temporal/parietal/occipital)
165
What are generalised seizures?
Arise from both hemispheres, produce a loss of consciousness (absence, tonic clonic, tonic, atonic, myoclonic)
166
Investigations for epilepsy? (4)
EEG
MRI/CT
Functional scans
?metabolic/genetic studies
167
Management of first seizure
Education and lifestyle advice -driving, alcohol, pregnancy
| No treatment after 1 unprovoked seizure
168
Treatment of established epilepsy
Focal - carbamazepine, lamotrigine
Generalised - valproate, lamotrigine
Possible surgery
169
What is childhood absence epilepsy? (4)
Common between 4-12
Loss of awareness <30s, may be associated with repetitive finger movements/lip smacking automatisms
Can be induced by hyperventilation
170
What is a long term complication of childhood absence seizures?
5-10% may develop adult tonic-clonic seizures
171
What is juvenile myoclonic epilepsy? (4)
In adolescence
Myoclonic seizures mostly after waking
Also tonic-clonic and absence concurrently in 1/3-2/3
Lifelong prognosis
172
Treatment for childhood absence seizures and JME?
Sodium valproate
| Lamotrigine
173
How may visual impairment present in infancy? (6)
```
Loss of red reflex
White reflex
Not smiling by 6 weeks
Visual inattention
Nystagmus
Squint
```
174
What is squint?
Misalignment of visual axes, often intermittent
175
What is squint usually caused by?
Failure to develop binocular vision due to refractive errors
| Can be caused by cataracts, retinoblastoma
176
What are the types of squint?
```
Concomitant squint (non paralytic, common) - usually due to refractive error
Paralytic squint (rare) - paralysis of motor nerves, can be due to a space occupying lesion - image head
```
177
How is concomitant squint treated?
Glasses
| Possible surgery
178
How are squints detected?
Cover test
| Light reflex test
179
What is ambylopia?
Potentially permanent loss of visual acuity in an eye that hasn't recieved a clear image
180
What causes ambylopia?
Any interference in visual development - refractive errors, squint, ptosis, cataract
181
How is ambylopia treated?
Glasses
| Occlusion of the 'good' eye until vision in affected eye improves
182
What can congenital hypothyroid cause?
Severe learning difficulties - one of the preventable causes
183
What causes congenital hypothyroidism? (4)
TSH deficiency (rare)
Maldescent of the thyroid and athyrosis - most common in UK
Dyshormonogenesis - most common if consanguineous
Iodine deficiency (rare in UK, most common worldwide)
184
When is congenital hypothyroidism usually picked up?
Screening
185
What are the symptoms of congenital hypothyroidism? (8)
```
Failure to thrive
Feeding problems
Prolonged jaundice
Constipation
Cold/dry skin
Large tongue
Goitre
Delayed development
```
186
What are the symptoms of acquired (juvenile) hypothyroidism (Hashimoto's thyroiditis)? (4)
```
Similar to adults AND:
Short stature
Delayed puberty
Learning difficulty
Increased risk in Down's/Turner's
```
187
What is the treatment of congenital/acquired hypothyroidism?
Oral thyroxine replacement lifelong
188
What is the usual cause of hyperthyroidism?
Usually results from Graves disease secondary to production of thyroid stimulating immunoglobulins
189
What are the symptoms of hyperthyroidism? (4)
```
Similar to adults - eye signs less common
Rapid height growth
Advanced bone maturity
Behavioural problems
Learning difficulties
```
190
How is hyperthyroidism treated? (6)
Carbimazole
Beta blockers if anxiety/tremor
Relapse common after treatment stopped - second course given
Or surgery - subtotal thyroidectomy
Radioiodine
Thyroxine for possible subsequent hypothyroidism
191
What is Down's syndrome?
Trisomy 21 - most common autosomal trisomy and cause of severe learning difficulties
192
What are symptoms of Down's syndrome? (4+)
Face - round face, flat nasal bridge, upslanted palpebral fissures, epicanthic folds, protruding tongue, small ears, flat occiput
Short neck
Single palmar crease
Sandal gap toe deformity
193
Medical complications/signs of Down's syndrome (4)
Hypotonia
Congenital heart defects
Duodenal atresia
Hirschprung's disease
194
Long term complications of Down's syndrome (10)
```
Learning difficulties
Delayed development
Small stature
Increased infection risk
Hearing problems
Visual problems
Increased risk of leukaemia/tumours
Increased hypothyroidism
Increased epilepsy
Increased Alzheimer's
```
195
Diagnosis of Down's syndrome (4)
Amniocentesis FISH - fluorescence in situ hybridisation
CVS - chorionic villous sampling of placenta
Increased nuchal translucency on USS
Clinical diagnosis
196
What is the most common genetic cause of Down's syndrome?
Meiotic non dysjunction, mostly related to maternal age
197
What is the prevalence of atopic eczema in children and when is it resolved?
20%
50% resolved by 12
75% by 16
198
What is eczema caused by?
Genetic deficiency of skin barrier function
199
What is eczema associated with?
Family history of eczema, asthma, rhinitis
| 1/3 develop asthma
200
How is eczema diagnosed?
Increased IgE
RAST tests if possible allergic cause
Exclude immune deficiency if severe/atypical/infectious
201
Symptoms of eczema? (3)
Itching
Erythematous weeping crusted skin
Dry skin may be lichenified
202
Where is eczema rash commonly in infants and older children?
Infants - face and trunk
| Older children - flexor/friction surfaces
203
What can trigger eczema exacerbations? (6)
```
Staph/strep infection, herpes
Allergens
Irritants
Heat/humidity
Stress
Medications
```
204
What may herpes cause in eczema?
Eczema herpeticum - blisters commonly on face and neck, give antivirals
205
Management of eczema and exacerbations (5)
Avoid soaps, biological detergents, wool/nylon, food allergens
Give emollients
Topical corticosteroids in exacerbations, possible antibiotics
Tacrolimus - immunomodulator
Occlusive bandages if scratching
206
What is sensorineural hearing loss?
Caused by a lesion in the cochlear or auditory nerve, usually present at birth and irreversible, can be of varying severity
207
What causes sensorineural hearing loss? (6)
```
Mostly genetic
Congenital infection
Prematurity
Ischaemia
Meningitis
Trauma
```
208
What is classified as profound hearing loss?
>95 decibels
209
Management of sensorineural hearing loss?
Hearing aid amplification
cochlear implant
sign language (speech may be delayed)
210
What may hearing loss be an underlying cause of?
Learning difficulties
| Delayed speech
211
What is conductive hearing loss?
Caused by abnormalities of the ear canal/middle ear, is intermittent and resolves i.e. after URTI
212
Common causes of conductive hearing loss?
Most often from otitis media with effusion (glue ear)
| Eustachian tube dysfunction in Down syndrome, cleft palate
213
Which type of hearing loss is more common?
Conductive
214
How severe is conductive hearing loss normally?
Mild-moderate, usually max of 60 decibels
215
Management of conductive hearing loss?
Conservative
Amplification or autoinflation if prolonged - chronic otitis media with effusion
Grommets if not improving
216
What is the treatment of otitis media?
Amoxicillin
217
What are grommets?
Grommets are tiny tubes which are inserted into the eardrum. They allow air to pass through the eardrum, which keeps the air pressure on either side equal. The surgeon makes a tiny hole in the eardrum and inserts the grommet into the hole
218
What is glue ear?
Otitis media with effusion
219
What is otitis media?
Inflammatory disease of the middle ear, commonly caused by infection or allergies leading to dysfunction of the eustachian tube
220
Symptoms of otitis media? (4)
Ear pain
Fever
Irritability
Accompanying URTI
221
What is periorbital cellulitis?
Inflammation and infection of the eyelid and skin around the eye, can be due to sinusitis or other infection with haematological spread
222
Treatment of periorbital cellulitis?
Antibiotics - penicillin
223
What is Stephens-Johnson syndrome?
Severe blistering form of erythema multiforme involving mucous membranes (conjunctivitis, corneal ulcers) possibly caused by drug sensitivity or infection
224
What is erythema multiforme?
Target lesions with a central papule surrounded by an erythematous ring - caused by herpes, drugs, other infections
225
What is utricaria?
Hives - flesh coloured weals, usually in response to an allergen/viral infection, may involve deeper tissues to produce angioedema
226
What is angioedema?
Swelling of the lips and soft tissues around the eyes
227
What is allergic rhinitis?
Can be atopic, seasonal or perennial, with coryza and conjunctivitis or cough with post nasal drip
228
What is atopy?
Personal/familial tendency to produce IgE antibodies in response to potential allergens, usually proteins, associated with asthma, eczema, rhinitis
229
Treatment for allergic rhinitis? (5)
Non sedating antihistamines - loratidine, cetirizine
Topical corticosteroids
Leukotriene receptor antagonsists - montelukast
Nasal decongestants short term
Allergen immunotherapy
230
What are congenital melanocytic naevi?
Moles, congenital moles are present from birth and if >9cm diameter have 4-6% chance of becoming malignant melanoma
231
What is anaphylaxis?
Rapid onset, potentially fatal respiratory and cardiovascular compromise, mostly caused by IgE mediated allergies
232
Symptoms of anaphylaxis? (6)
```
Urticaria
Swelling of lips, tongue, throat
Shortness of breath, stridor, wheeze
Dizziness/fainting
Stomach pain, vomiting
Drowsy, coma
```
233
Management of anaphylaxis? (6)
```
Call for help
Give IM adrenaline 1:1000 150mcg <6yr 300mcg 6-12 500mcg >12
Oxygen
IV fluid
Chlorpheniramine antihistamine
Hydrocortisone
```
234
Long term management of anaphylaxis? (2)
Allergen avoidance
| Adrenaline auto-injector
235
What is Fanconi anaemia?
Most common inherited form (autosomal recessive) of aplastic anaemia (bone marrow failure) - pancytopaenia leading to anaemia, infection, and bruising/bleeding
236
Symptoms of Fanconi anaemia? (40
Congenital abnormalities - short stature, abnormal fingers/thumbs, renal malformations, skin lesions
Anaemia
Bleeding
Infection
237
Complications of Fanconi anaemia?
Death from bone marrow failure
| Acute leukaemia
238
Treatment of Fanconi anaemia?
Bone marrow transplant
239
What is haemolytic disease of the newborn?
Haemolytic anaemia caused by antibodies destroying the fetal RBC or intrinsic abnormality of the RBC itself
240
Causes of HDN? (4)
Rhesus disease
Hereditary spherocytosis
G6PD deficiency
alpha thalassaemia major
241
Explain the mechanism of immune haemolytic disease of the newborn? (4)
Commonly, maternal anti-D antibody against fetal rhesus positive antigens
Mother is rhesus negative, baby rhesus positive
Mother makes antibodies against baby's blood group when sensitisation occurs which cross the placenta
Causes fetal haemolysis of RBC
242
Treatment of immune HDN?
Give anti-D to mother at 28 weeks, or if bleeding occurs
| Blood transfusion of fetus affected
243
What are the types of thalassaemias
Beta thalassaemia major - no HbA produced
Beta thalassaemia intermedia - some HbA producrs
Beta thalassaemia minor (trait carrier)
244
Cause of beta thalassamia?
Severe reduction in production of beta globin and reduction in HbA production
245
Symptoms of beta thalassaemia major? (5)
Severe anaemia, transfusion dependent
Jaundice
FTT
Extramedullary haemopoiesis - hepatosplenomegaly and bone marrow expansion without transfusions
Can lead to maxillary overgrowth and skull bossing
246
Management of beta thalassaemia major? (3)
Lifelong monthly transfusions - repeated causes cardiac failure, liver cirrhosis, diabetes, infertility
Iron chelation to avoid longterm iron effects - dysferrioxamine
Bone marrow transplant
247
What is beta thalassaemia minor?
Trait, usually asymptomatic
| Mild anaemia if anything
248
What is alpha thalassamia major?
Deletion of all four alpha globin genes so no HbA can be produced
249
How does alpha thalassaemia major present?
In utero with fetal hydrops which is fatal either then or shortly after delivery
Can be managed with monthly untrauterine transfusions for whole life
250
What are alpha thalassaemia intermedia or minor?
Intermedia - 3 globin genes deleted, moderate
| Minor - 1/2 globin genes deleted, usually asymptomatic
251
What is Wilms tumour?
Nephroblastoma
| Originates from embyronic renal tissue, most present before age 5
252
Symptoms of Wilms tumour?
Large abdominal mass
| Rarely - abdo pain, anorexia, haematuria, anaemia, hypertension
253
Investigations of Wilms tumour? (3)
CT/MRI shows cystic and solid mass on kidneys distorting shape
Assess for metastases and staging
Function of contralateral kidney
254
Management of Wilms tumour? (3)
Chemotherapy
Delayed nephrectomy
Radiotherapy if advanced
255
What is neuroblastoma?
Tumours arising from neural crest tissue in the adrenal medulla and sympathetic nervous system
256
Presentation of neuroblastoma? (5)
```
Abdominal mass if adrenal primary
Spinal cord compression if paravertebral
Hepatomegaly
Limp
If over 2 symptoms mainly from metastases - bone pain, bone marrow suppression, weight loss
```
257
Investigations of neuroblastoma? (4)
USS and MRI - large abdo mass, complex relationship with kidney and blood vessels, extending to midline
Raised urinary catecholamine levels
Bone marrow sampling
MIBG scan to map mets
258
Management of neuroblastoma? (5)
Surgery to resect localised primaries
Chemotherapy if metastatic
Radiotherapy, autologous stem cell transplant
Immunotherapy
259
What is retinoblastoma?
Malignant tumour of retinal cells, accounts for 5% of severe visual impairment in children, some forms are hereditary
260
Symptoms of retinoblastoma? (2)
White pupillary reflex replaces red reflex
| Squint
261
Treatment of retinoblastoma? (3)
Chemotherapy to shrink tumour and local laser treatment to retina
Enucleation of the eye - removal if advanced
Radiotherapy for recurrence
262
What is rhabdomyosarcoma?
Most common soft tissue tumour in children, originates from primitive mesenchymal tissue and has varied sites and presentation
263
Symptoms of rhabdomyosarcoma?
Head and neck - proptosis, nasal obstruction
GU tumours - dysuria, urinary obstruction
Metastatic - lung, liver, bone marrow
264
Management of rhabdomyosarcoma?
Chemotherapy, surgery, radiotherapy
265
2 bone tumours in children?
Osteogenic sarcoma
| Ewing sarcoma
266
Presentation of bone tumours in children?
Persistent limb pain
267
Management of bone tumours? (4)
X ray, MRI, bone scan
Chemotherapy before surgery
Resection with prosthesis insertion
Radiotherapy for Ewing sarcoma
268
What is rickets?
Failure in mineralisation of the growing bone or osteoid tissue
269
Causes of rickets? (5)
Vitamin D deficiency - inadequate intake or sunlight
Diet low in calcium, phosphurus i.e. exclusive prolonged breastfeeding
Intestinal malabsorption - coeliac, cystic fibrosis
Chronic liver/renal disease
Hereditary types
270
Physiology of rickets? (5)
Deficient intake/defective metabolism of vitamin D
Causes low serum calcium
Triggers secretion of parathyroid hormone
Normalises calcium but causes loss of phosphate and demineralises bone
Normally, vitamin D3 (cholecalciferol) is hydroxylated in the liver and again in the kidney to 1,25-dyhydroxyvitamin D in response to low calcium
271
Presentation of rickets? (7)
Ping pong ball sensation of skull when pressed
Palpable costochondral junctions
Widened wrists and ankles
Harrison sulcus on chest
Bowed legs
FTT
Delayed closure of fontanelle, delayed dentition
272
Diagnosis of rickets?
Dietary history
Bloods - calcium low/normal, phosphurus low, alkaline phosphatase activity high, PTH high, vitamin D low
XRay of joints
273
Management of rickets? (4)
Balanced diet
Correct risk factors - i.e. malabsorption
Administer daily vitamin D
Complete reversal of bony deformities may take years
274
What is Osgood-Schlatters disease?
Osteochondritis of the patellar tendon insertion at the knee, often affecting active teenage boys
275
How does Osgood-Schlatters present? (3)
Knee pain after exercise
Localised tenderness and swelling
Hamstring tightness
276
Treatment of Osgood-Schlatters? (3)
Reduced activity and physiotherapy
Orthotics
Knee splint
277
What is a slipped capital femoral epiphysis?
Displacement of the epiphysis of the femoral head requiring prompt treatment to prevent avascular necrosis, most common in obese teenage boys
278
How does SCFE present? (2)
Limp or hip/knee pain
| Restricted abduction or internal rotation of the hip
279
Treatment of SCFE?
Surgical - pin fixation
