Paediatrics ILA 1-3 Flashcards
(508 cards)
1
Q
how is measles spread?
A
droplet spread
2
Q
what are the ‘4 C’s’ symptoms in the prodrome phase of measles?
A
- cough
- coryza- catarrhal inflammation of nasal membranes
- conjunctivitis
- cranky
3
Q
what is the incubation period for measles?
A
7-12 days
4
Q
what are 4 signs of measles?
A
- koplik spots on the palate
2. raised temperature
5
Q
what are 4 complications of a measles infection?
A
- otitis media- most common
- croup
- tracheitis
- pneumonia
6
Q
what is a chronic complication of measles that develops 7-13 years after the primary infection?
A
subacute sclerosing parencephalitis
7
Q
what are 5 symptoms of subacute sclerosing parencephalitis?
A
- changes in behaviour
- myoclonus
- dystonia
- dementia
- choreoatheotosis- involuntary twitching or writhing
8
Q
how do you treat measles?
A
- supportive care
- ensure isolation
- ribovarin if immunocompromised
9
Q
how is mumps spread?
A
droplet spread/ salivary spread
10
Q
what is the incubation period of mumps?
A
14-21 days
11
Q
when is the infective period of mumps?
A
7 days before and 9 days after swelling of the parotid glands
12
Q
what are 3 signs and symptoms of mumps?
A
- prodromal malaise
- raised temperature
- painful parotid swelling becoming bilateral in 70%
13
Q
what is a complication from mumps that can reduce sperm count?
A
orchitis
14
Q
how do you treat mumps?
A
- rest
- analgesia
- fluids
15
Q
how is rubella spread?
A
droplet spread
16
Q
what is the incubation period of rubella?
A
2-3 weeks
17
Q
what is the infective period of rubella?
A
5 days before and 5 days after the onset of the rash
18
Q
what are 3 signs of rubella?
A
- macular rash that first occurs on the face and fades in 3-5 days
- suboccipital lymphadenopathy
- mild, low grade fever
19
Q
what are 2 complications of rubella?
A
- small joint arthritis
2. malformations in utero
20
Q
what are the three most common in utero malformations associated with rubella and when would the infection have to occur to produce each malformation?
A
- first 4 weeks- eye anomaly
- 4-8 weeks- cardiac abnormalities
- 8-12 weeks- deafness
21
Q
how do you diagnose measles?
A
clinical examination and serological test
22
Q
how do you diagnose mumps?
A
clinical examination and buccal swab and culture
23
Q
how do you diagnose rubella?
A
clinical examination and serological testing
24
Q
what are 4 signs of erythrovirus (AKA parvovirus)?
A
- malar erythema/ slapped cheek appearance
- macular rash mainly on the limbs
- mild constitutional upset
- fever
- malaise
- headache
- myalgia
25
how is erythrovirus spread?
droplet spread
26
what is a dangerous haematological complication of erythrovirus and who is at risk?
it can cause aplastic crisis in people with chronic haemolytic anaemia and conditions like sickle cell disease, thalassaemia, spherocytosis
27
how do you diagnose erythrovirus and which antibody is involved?
serology, igM
28
how do you treat erythrovirus?
1. supportive care
29
what is the % risk of fetal death with erythrovirus and what is the cause?
10%, mostly hydrops fetalis because of inhibited multiplication of erythroid progenitor cells
30
what 5 fetal problems can occur due to erythrovirus?
1. hydrops fetalis
2. growth restriction
3. placentomegaly
4. oedema
5. pancytopenia
31
what viruses can cause hand, foot and mouth disease?
coxsackie virus and enterovirus
32
what are some signs and symptoms of hand, foot and mouth disease?
1. low grade fever
2. rash/vesicles on the hands and feet
3. oral ulcers and vesicles
4. malaise
5. sore mouth
6. loss of appetite
7. sore throat
33
what is the incubation time for hand, foot and mouth disease?
5-7 days
34
how do you treat hand, foot and mouth disease?
1. symptomatic treatment
2. analgesics and antipyretics
3. fluid and nutritional support
35
how do you diagnose hand, foot and mouth disease?
clinical examination and serological testing
36
what is the cause of roseola infatum?
herpes virus 6
37
what are some signs and symptoms of roseola infantum?
1. increased temperature
2. maculopapular rash following 3-5 days of fever, commonly beginning on the neck and trunk
3. uvulopalatoglossal ulcers
38
what is a dangerous complication of roseola infantum?
febrile seizures, can cause encephalitis
39
what are 4 less common causes of rashes in children?
1. a few maculopapular rashes- meningococcaemia
2. purpuric rashes- ITP, henon-schonlein purpura
3. drug maculopapular rashes- amoxicillin
4. scabies
5. eczema
6. still's disease
40
how is chickenpox spread?
droplets, can be caught from someone with shingles
41
what is the incubation period for chickenpox?
11-21 days
42
when is the infective period of chickenpox?
4 days before the rash until all lesions have scabbed (roughly 5 days)
43
what are 4 signs of chickenpox?
1. crops of skin vesicles of different ages starting on the face scalp or trunk and spreading
2. pruritis
3. malaise
4. temperature
5. headache
6. sore throat
44
where are chickenpox vesicles usually more concentrated?
the torso
45
how do you diagnose chickenpox?
1. clinical examination
2. pcr
3. tzanck smear
46
what are 3 differentials for chickenpox?
1. hand, foot and mouth disease
2. insect bites
3. scabies
47
what is the course of chickenpox?
rash starts 2 days after onset of fever, lesions cluster around areas of pressure or hyperaemia
48
what are 4 complications of chickenpox?
1. secondary bacterial staph infection
2. encephalitis
3. pupura fulminans
4. pneumonia
5. meningitis
6. myelitis
7. thrombosis
49
how do you identify purpura fulminans?
blackish clusters of lesions
50
how do you identify necrotising fasciitis?
coalescing, bluish clusters of lesions
51
in which conditions is chickenpox dangerous?
1. immunosuppression
2. cystic fibrosis
3. severe eczema
4. neonates
52
how do you treat chickenpox
1. keep the patient cool
2. calamine lotion soothes
3. chlorhexidine daily antiseptic
4. flucloxacillin if bacterial superinfection
5. if immunosupressed or on steroids- anti varicella zoster immunoglobulin and aciclovir
53
what virus causes shingles?
varicella zoster virus
54
how do you treat shingles?
oral analgesia and aciclovir
55
what are the risks of contracting varicella during pregnancy?
fetal varicella syndrome in 2% in the last 20 weeks- can cause cerebral cortical atrophy and cerebellar hypoplasia
56
how do you prevent contracting varicella during pregnancy?
vaccination
57
how do you treat babies when they are born after the mother had varicella during pregnancy?
zoster immunoglobulin, if infected give then acyclovir and isolate
58
what is an infection that can be vertical transmitted from mother to baby?
HIV
59
how do you diagnose vertically acquired HIV infection?
1. HIV viral pcr
2. p24 antigen
3. specific IgA
60
what are 4 signs symptoms in a child that would make you consider a HIV infection?
1. lymphadenopathy
2. hepatosplenomegaly
3. persistent diarrhoea
4. recurrent infections
5. recurrent fever
6. thrombocytopenia
61
how do you treat vertically transmitted HIV?
1. HAART- highly active anti retroviral therapy
| 2. teach children about safe sex and other issues before puberty
62
what are 4 causative organisms of infective encephalitis?
1. herpes simplex virus
2. varicella zoster virus
3. rabies virus
4. parvovirus
63
how do you diagnose encephalitis?
1. clinical examination
2. CSF PCR
3. test stool, urine and blood
64
what are 4 non-infective differentials of encephalitis?
1. hypoglycaemia
2. diabetic ketoacidosis
3. hepatic failure
4. subarachnoid haemorrhage
65
what are 5 signs and symptoms of infective encephalitis?
1. flu-like prodrome
2. decreased consciousness
3. odd behaviour
4. vomiting
5. fits
6. increased temperature
7. meningism
66
how do you treat infective encephalitis?
1. give acyclovir if HSV suspected
67
what bacteria cause toxic shock syndrome?
1. staph aureus
| 2. group A strep
68
what are 5 signs and symptoms of toxic shock syndrome?
1. fever >39
2. hypotension
3. diffuse erythematous rash
4. impaired consciousness
5. gi/renal/liver impairment
6. clotting abnormalities
7. PVL released by s aureus can cause necrotising fasciitis
69
how do you treat toxic shock syndrome?
1. intensive care
2. surgical debridement of infected areas
3. IV ceftriaxone/ clindamycin with IV Ig
70
what % of patients with bacterial meningitis are <16 years old?
80%
71
what % of survivors of bacterial meningitis have neurological impairment?
10%
72
what are 7 signs and symptoms suspicious of bacterial meningitis in infants?
1. irritability
2. abnormal cry
3. lethargy
4. difficulty feeding
5. fever
6. seizures
7. apnoea
8. bulging fontanelles
73
what are 5 septic signs of bacterial meningitis?
1. increased temperature
2. cold hands/ feet
3. arthralgia and limb pain
4. abnormal skin colour
5. odd behaviour
6. rash
7. DIC
8. raised pulse
74
what are 3 meningeal signs of bacterial meningitis?
1. neck stiffness
2. kernig's sign- resistance to knee extension with hip flexion
3. brudzinski's sign- hips flexed on bending head forward
4. photophobia
75
when is lumbar puncture contraindicated in bacterial meningitis?
if there is cardioresp instability, focal neurological signs or raised icp
76
how are the white cells, protein and glucose affected in the CSF of someone with bacterial meningitis?
1. neutrophils
2. increased protein
3. decreased glucose
77
how are the white cells, protein and glucose affected in the CSF of someone with viral meningitis?
1. lymphocytes
2. normal protein
3. normal glucose
78
what are 4 cerebral complications of bacterial meningitis?
1. hearing impairment
2. local vasculitis
3. subdural effusion
4. hydrocephalus
79
how do you diagnose meningitis?
1. lumbar puncture
2. clinical presentation- kernig's and brudzinski's
3. lumbar puncture
4. bloods- fbc, coagulation, calcium, magnesium, phosphate, crp
5. blood culture
6. ct/mri
80
how do you treat bacterial meningitis?
1. immediate IV broad-spectrum antibiotics- EG cephalosporin and vancomycin
2. ampicillin if l.monocytogenes is suspected (older, younger, immunocompromised)
3. adjuvant dexamethasone (not recommended in neonates)
4. supportive therapy (EG ABCDE, 2 large bore cannulas)
5. rifampicin or ciprofloxacin for pphx of contacts
81
name 4 different bacteria that can cause meningitis?
1. neisseria meningitiis
2. haemophilus influenzae
3. strep pneumoniae
4. escherichia coli
82
what is a noticeable dermatological sign of septicaemia?
purpuric rash
83
what are 6 infections that can be caused by streptococcus pneumoniae?
1. pharyngitis
2. otitis media
3. conjunctivitis
4. sinusitis with pneumonia
5. sepsis
6. meningitis
84
what is the clinical presentation of impetigo?
honey-coloured crusted lesions that appear on the face, neck or hands initially and can spread, very infectious
85
what bacteria can cause impetigo?
staph and strep
86
what skin condition makes you more likely to develop impetigo?
atopic eczema
87
how do you treat impetigo?
1. topical antibiotic cream
2. flucloxacillin in severe infections
3. children should not attend school until lesions are dry
88
what is a boil and what is the most common causative bacteria?
an infection of a hair follicle or sweat gland usually caused by staph aureus
89
how do you treat boils?
1. systemic antibiotics
| 2. surgical excision
90
what should you suspect if a child has repeated cases of boils?
nasal carriage of staph aureus
91
what are 2 signs and symptoms of periorbital cellulitis?
1. fever
2. erythema, tenderness and oedema of the eyelid
3. often unilateral and following trauma
92
what 2 anatomical locations/ pathologies can periorbital cellulitis commonly spread from?
1. paranasal sinus
| 2. dental abscess
93
how do you treat periorbital cellulitis?
intravenous antibiotics like ceftriaxone to prevent posterior spread
94
what are three signs and symptoms of orbital cellulitis?
1. proptosis
2. reduced visual acuity
3. painful ocular movement
4. fever
95
how do you diagnose orbital cellulitis?
1. clinical presentation
| 2. ct/mri
96
how do you treat orbital cellulitis?
antibiotics and drainage of any abscesses
97
what are 4 signs and symptoms of staphylococcal scalded skin syndrome?
1. fever
2. malaise
3. localised infection around eyes, nose and mouth
4. peeling and blistering skin
98
how do you treat staphylococcal scalded skin syndrome?
1. IV flucloxacillin
2. analgesia
3. monitoring of fluid balance
99
what 3 vaccines does a baby get at 8 weeks old?
1. 6 in 1 vaccine
2. rotavirus vaccine
3. meningitis B vaccine
100
what 3 vaccines does a baby get at 12 weeks old?
1. 6 in 1 vaccine second dose
2. pneumococcal PCV vaccine
3. rotavirus vaccine second dose
101
what 2 vaccines does a baby get at 16 weeks old?
1. 6 in 1 vaccine third dose
| 2. meningitis B vaccine second dose
102
what 6 diseases does the 6 in 1 vaccine protect against?
1. diphtheria
2. hepatitis B
3. haemophilus influenza type b
4. polio
5. tetanus
6. whooping cough
103
what 4 vaccines does a child get at 1 year old?
1. HIB/ MenC
2. MMR
3. pneumococcal PCV vaccine second dose
4. meningitis B vaccine third dose
104
what vaccine does a child get yearly between the ages of 2 and 10?
flu vaccine
105
what 2 vaccines does a child get at the age of 3 years and 4 months?
1. MMR second dose
| 2. 4 in 1 pre-school booster
106
what vaccine does a female child get at the age of 12 to 13 years?
1. HPV vaccine
107
what 2 vaccines does a child get at the age of 14 years?
1. 3 in 1 teenage booster
| 2. MenACWY
108
what % of children have allergic rhinitis, asthma or eczema?
40%
109
what % of children have any food allergy?
6%
110
what is the cause of an allergy?
polymorphisms/mutations in genes leading to IgE or non-IgE mediated immune responses
111
describe an IgE mediated allergic response
1. early phase within minutes caused by histamine release
2. late phase response after several hours
3. generally more severe and usually caused by inhaled allergens
112
describe a non-IgE mediated allergic response
1. delayed onset of response
2. varying clinical course
3. often less severe than IgE mediated
113
what are 6 signs and symptoms of allergic disease?
1. mouth breathing
2. allergic salute- rubbing from itchy nose
3. pale, swollen inferior nasal turbinates
4. hyperinflated chest
5. atopic eczema
6. allergic conjunctivitis
114
what are 2 important things to do in a child with allergies?
1. check their growth
| 2. identify triggers and manage if they have severe disease
115
is food allergy usually IgE mediated or non IgE mediated?
IgE mediated
116
what are 3 common food allergies in infants?
1. milk
2. peanuts
3. eggs
117
what are 2 common food allergies in older children?
1. nuts
| 2. fish
118
what is the clinical picture of a non-IgE mediated food allergy?
the allergy occurs hours after ingestion and involves the GI tract
119
what are 4 signs and symptoms of non-IgE mediated food allergy?
1. diarrhoea
2. vomiting
3. abdominal pain
4. faltering growth
5. in first few weeks of life, can present with bloody stools
120
what are 3 signs and symptoms of IgE mediated food allergy?
1. urticaria
2. facial swelling
3. anaphylaxis
4. occurs 10-15 minutes after ingestion of food
121
how do you diagnose an allergy?
1. skin prick test
| 2. IgE levels in blood
122
how do you diagnose a non-IgE allergy?
1. endoscopy
2. intestinal biopsy
3. double blind placebo controlled food challenge
123
how do you treat a food allergy?
1. avoidance of the food trigger
2. non-sedating antihistamines for mild reactions
3. epinephrine IM for severe reactions
124
what are the two types of eczema?
1. atopic
| 2. non-atopic
125
what % of children with atopic eczema have another allergy?
50%
126
what % of young infants with severe eczema have IgE mediated food allergy?
40%
127
what are the two types of allergic rhinitis?
1. atopic
| 2. non-atopic
128
what % of children are affected by allergic rhinitis?
20%
129
what is a symptom of allergic rhinitis that can cause a sore throat?
post-nasal drip
130
what are 3 conditions that are associated with allergic rhinitis?
1. eczema
2. sinusitis
3. adenoidal hypertrophy
131
name 3 ways that you can treat rhinoconjuncitivitis?
1. non-sedating antihistamines
2. topical corticosteroid nasal/eye preparations
3. cromogylcate eye drops
4. leukotriene receptor antagonists
5. nasal decongestants
6. allergy immunotherapy
132
what is the physiology of urticaria?
local vasodilation and increased permeability of capillaries and venules
133
what happens if urticaria involved deeper tissues?
angioedema
134
if the allergy cause is urticarial, what life threatening condition is the patient at risk of?
anaphylaxis
135
how do you treat allergic urticaria?
1. non-sedating antihistamines
| 2. omalizumab
136
what are 2 useful tumour markers in neuroblastoma?
1. VMA
| 2. HVA
137
what is a useful tumour marker in germ cell tumours?
1. high alpha fetoprotein
138
what is the primary curative treatment in all childhood cancers?
chemotherapy (surgery may follow in some diagnoses)
139
what are 4 common opportunistic infections in children with immunodeficiency?
1. PCP
2. aspergillosis
3. candidiasis
4. coagulase negative staph
140
what is a side effects of doxorubicin?
cardiotoxicity
141
what are 2 side effects of cisplatin?
1. renal failure
| 2. deafness
142
what is a side effect of cyclophosphamide?
haemorrhagic cystitis
143
what is a side effect of vincristine?
neuropathy
144
what type of leukaemia accounts for 80% of cases in children?
acute lymphoblastic leukaemia, peaking at ages 2-5
145
what are two rare forms of blood cancer in children?
1. myeloproliferative disorder
| 2. chronic myeloid leukaemia
146
what causes symptoms in leukaemia and what is the usual course of development?
disseminated disease from infiltration of bone marrow and other organs by leukaemic blast cells over a course of weeks
147
how do you diagnose leukaemia?
1. FBC- low Hb, thrombocytopenia, evidence of circulating leukaemic blast cells
2. bone marrow examination to confirm diagnosis
3. clotting screen needed as 10% have DIC on diagnosis
4. LP and CXR are done
148
what are 4 prognostic factors in leukaemia?
1. age
2. WCC at presentation
3. cytogenetics
4. response to treatment
149
how do you protect renal function in leukaemia treatment?
hydration and allopurinol
150
a combination of chemo and steroids gives what % of remission in leukaemia?
95%
151
what are 7 signs and symptoms of acute leukaemia?
1. malaise
2. anorexia
3. nausea and vomiting
4. lethargy
5. easy bruising
6. infection
7. bone pain
152
how do you treat leukaemia?
1. blocks of intense chemotherapy
2. intrathecal chemo prevents CNS relapse
3. cotrimoxazole pphx for pcp pneumonia
4. relapse is high dose chemo and bone marrow transplantation
5. supplemental steroid treatment
153
what are the most common paediatric brain tumours in order and % of cases?
1. 60% infratentorial
2. 40% astrocytoma
3. 20% medulloblastoma
4. 8% ependymoma
5. 6% brainstem glioma
6. 4% craniopharyngioma
154
what are 3 signs and symptoms of a brain tumour?
1. raised ICP- irritable, drowsy, headache, vomiting, diplopia, decreased responsiveness
2. focal neurological deficits
3. ALSO spinal invasion can cause pack pain, incontinence and weakness in peripheries
155
how are brain tumours diagnosed?
1. MRI
| 2. LP can stage since some tumours metastasise within CSF
156
how do you treat brain tumours?
1. 1st line is surgery and is aimed at treating hydrocephalus
2. chemotherapy and radiotherapy
157
which lymphoma is more common in childhood?
non-hodgkins lymphoma
158
which lymphoma is more common in adolescense?
hodgkins lymphoma
159
what are 2 symptoms of lymphoma?
1. painless lymphadenopathy (often in the neck)
| 2. B symptoms- fever, night sweats, weight loss
160
how do you diagnose lymphoma?
1. lymph node biopsy
2. radiological assesment of nodal sites
3. bone marrow biopsy
161
how do you treat lymphoma?
combination chemo with radio, and monitor treatment response with PET scans
162
what is the % cure rate with and without disseminated disease?
80% without, 60% with
163
what is burkitt lymphoma and what are the three primary types?
a B-cell variant of non-hodgkins lymphoma consisting of endemic variant (chronic malaria due to ebv), sporadic (ebv) and associated with immunodeficiency (HIV)
164
how do you treat burkitt lymphoma?
multiagent chemotherapy
165
what lymphocyte is most commonly involved in lymphoma?
B-cells
166
what tissue does neuroblastoma form from?
neural crest tissue in the adrenal medulla and sympathetic nervous system
167
what are 5 signs and symptoms of neuroblastoma?
1. abdominal mass
2. nerve compression
3. bone pain
4. weight loss
5. malaise
6. neck lump
7. bruising, particularly around the eye
168
what is the usual organ of origin in abdominal primary neuroblastoma?
adrenal glands
169
how do you diagnose neuroblastoma?
1. raised HVA/VMA
| 2. biopsy can be useful
170
how do you treat neuroblastoma?
1. local primaries without mets by surgery
2. mets by chemo, autologous stem cell rescue, surgery and radiotherapy
3. there is a high relapse rate
171
what are 2 clinical syndromes that can present with neuroblastoma near the thoracic outlet?
1. horner's syndrome- ptosis, miosis, anhydrosis
| 2. superior vena cava syndrome- dyspnea, facial swelling, cough, distended neck veins, edema of the upper extremeties
172
what tissue does wilm's nephroblastoma originate from?
embryonal renal tissue- undifferentiated mesodermal tumour of intermediate cell mass
173
what % of children with wilm's nephroblastoma present before 5 years old?
80%
174
what are the four conditions in the acronym 'wagr' that are associated with wilm's nephroblastoma?
1. beckwith- (W)iedemann syndrome- overgrowth syndrome
2. (A)niridia- iris is not present
3. (G)U malformations
4. (R)etardation
175
what tissue does rhabdomyosarcoma form from?
primitive mesenchymal tissue (cells that form MSK system amongst others) as it is a skeletal muscle cancer
176
what are 4 signs and symptoms of rhabdomyosarcoma that is retroperitoneal/abdominal?
1. obstruction
2. perforation
3. bloating
4. discomfort
5. increased abdominal girth
6. abdominal mass
7. tenderness
177
what are 4 signs and symptoms of rhabdomyosarcoma that is a gastrointestinal stromal (occurs in the wall of intestine) tumour?
1. anaemia symptoms- dizziness, fatigue, pallor
2. weight loss
3. GI bleeding
4. may only present following perforation or obstruction
178
what are 4 signs and symptoms of rhabdomyosarcoma that occurs in the soft tissue of the extremities?
1. painless mass
2. weight loss
3. fatigue
4. anorexia
5. painless mass is deep to the deep fascia
179
how do you diagnose rhabdomyosarcoma?
1. CT/MRI
2. endoscopy
3. CT chest
180
how do you treat rhabdomyosarcoma?
multimodality treatment- chemotherapy and surgery
181
what is the primary symptom of ewing sarcoma/ osteosarcoma?
persistent localised bone pain with a mass
182
how do you diagnose ewing sarcoma/ osteosarcoma?
1. X-ray, MRI and bone scan
2. chest CT for lung mets
3. bone marrow sampling
183
how do you treat ewing sarcoma/ osteosarcoma?
surgery and chemotherapy
184
which tumour accounts for 5% of severe visual impairments in children?
retinoblastoma
185
what is the cause of all bilateral retinoblastoma tumours?
hereditary/ genetics
186
which chromosome is the gene mutation for retinoblastoma located on?
chromosome 13
187
how do you diagnose retinoblastoma?
1. clinical examination
2. fundoscopy
3. MRI scan
4. examination under general anaesthesia
188
how do you treat retinoblastoma?
1. chemotherapy
2. laser treatment
3. radiotherapy in advanced disease
189
what are the 2 most common primary malignant liver tumours?
1. hepatoblastoma
| 2. hepatocellular carcinoma
190
what are 4 symptoms of primary malignant liver tumours?
1. abdominal distension
2. abdominal mass
3. weight loss
4. jaundice
191
what is elevated in the blood in primary malignant liver tumours?
serum alpha fetoprotein
192
how do you diagnose primary malignant liver tumours?
1. serum alpha fetoprotein
2. clinical examination
3. ultrasound
4. MRI
193
how do you treat primary malignant liver tumours?
chemotherapy or surgery
194
what treatment method are germ cell tumours highly sensitive to?
chemotherapy
195
what is langerhan's cell histiocytosis?
abnormal proliferation of histiocytes and cytokine over production, leading t widespread inflammation
196
what are some signs and symptoms of langerhan's cell histiocytosis?
1. bone pain and/or swelling
2. skin rash
3. polydipsia and polyuria
4. failure of growth or sexual maturation
5. vertebra plana (a vertebra has lost almost all of its height)
6. hepatosplenoegaly
197
what are langerhans cells?
dendritic cells of the skin
198
how do you diagnose langerhan's cell histiocytosis?
1. FBC
2. LFTs
3. serum albumin
4. tissue biopsy
5. coagulation screen
6. renal function
7. X-ray
very disseminated disease so loads of tests are fair game
199
how do you treat langerhan's cell histiocytosis?
1. chemotherapy
2. surgery
3. radiotherapy
4. corticosteroid common
5. desmopressin if diabetes insipidus
200
what is the anaemic Hb count in neonates?
<140g/L
201
what is the anaemic Hb count in 1-12 month old babies?
<100g/L
202
what is the anaemic Hb count in 1-12 year old children?
<110g/L
203
what are the three main pathological reasons a child will become anaemic?
1. reduced red cell production
2. haemolysis
3. blood loss
204
what are 2 causes of reduced red cell production in anaemia and what conditions do they indicate?
1. ineffective erythropoiesis (iron deficiency anaemia)
| 2. absence of production (red cell aplasia)
205
what are 3 causes of iron deficiency anaemia?
1. inadequate uptake
2. malabsorption
3. blood loss
206
what are 2 symptoms of iron deficiency anaemia in babies?
1. fatigue
| 2. slow feeding
207
what is the colour and size of red blood cells and amount of reticulocytes in iron deficiency anaemia and what else is lowered?
1. microcytic
2. hypochromic
3. normal reticulocytes
4. low ferritin
208
what are 3 causes of red cell aplasia?
1. congenital
2. transient erythroblastopenia of childhood
3. parvovirus B19
209
how do you diagnose red cell aplasia?
on bloods-
1. low reticulocyte count
2. normal bilirubin
3. negative coomb's test
4. absent red cell precursors on bone marrow exam
210
how do you treat red cell aplasia?
1. steroids
2. monthly RBC transfusions
3. stem cell transplant
211
what triggers transient erythroblastopenia of childhood?
viral infection, recovers in several weeks
212
how does haemolytic anaemia cause anaemia?
reduced RBC lifespan, circulatory destruction in lover and spleen leads to anaemia when bone marrow can no longer compensate
213
what are the three main paediatric causes of haemolytic anaemia?
1. red cell membrane disorders (spherocytosis)
2. red cell enzyme disorders
3. haemoglobinopathies
214
what are 4 signs of haemolytic anaemia?
1. hepato/splenomegaly
2. anaemia
3. increased blood levels of unconjugated bilirubin
4. increased urinary urobilinogen
215
what are 5 diagnostic clues in haemolytic anaemia?
1. raised reticulocyte count
2. unconjugated bilirubinaemia
3. abnormal rbc appearance
4. positive coomb's test
5. increased RBC precursors
216
what is coomb's test?
a test that checks for antibodies against red blood cells
217
what are 5 signs and symptoms of spherocytosis?
1. jaundice
2. anaemia
3. splenomegaly
4. aplastic crisis
5. gallstones
218
what is diagnostic in haemolytic anaemia?
blood film
219
how do you treat haemolytic anaemia?
1. oral folic acid
2. splenectomy if poor growth with penicillin pphx after
3. up to date vaccinations
4. aplastic crisis is 3 blood transfusions
220
how is G6PD deficiency inherited?
X-linked
221
what are 2 signs and 3 precipitating factors in G6PD deficiency?
1. neonatal jaundice
2. acute haemolysis
3. precipitated by infection
4. precipitated by fava beans
5. precipitated by naphthalene
222
what are 4 signs/symptoms of haemolysis in G6PD deficiency?
1. fever
2. abdo pain
3. malaise
4. passage of dark urine
223
how do you diagnose G6PD deficiency?
measure G6PD in RBC, blood picture between episodes looks normal
224
how do you treat G6PD deficiency?
educate patient about acute haemolysis and specific foods to avoid. treat any precipitating infection
225
how do haemoglobinopathies cause anaemia?
1. reduced HbA
| 2. production of abnormal Hb
226
what is the inheritance of sickle cell anaemia?
autosomal recessive
227
what is the most severe form of sickle cell anaemia?
HbSS
228
what are 6 signs and symptoms of sickle cell anaemia?
1. anaemia
2. infection
3. painful crisis
4. priapism
5. splenomegaly
6. stroke
7. cognitive problems
8. renal dysfunction
229
what medication should sickle cell anaemia patients take once daily?
folic acid
230
what 4 things should sickle cell anaemia patients avoid?
1. cold
2. dehydration
3. excessive exercise
4. stress
231
how do you treat sickle cell anaemia painful crises?
1. oral/ IV analgesia
2. good hydration
3. exchange transfusion
232
what medication might children who have recurrent visits with sickle cell anaemia benefit from and what do you have to monitor with this medication?
hydroxycarbamide, but monitor for white cell suppression
233
what % of patients with serious sickle cell anaemia die before the age of 40?
50%
234
what eye condition do children with sickle cell disease often develop in their adolescense?
proliferative retinopathy
235
what 2 regions does beta thalassaemia most often occur?
1. indian subcontinent
| 2. middle east
236
what is the physiology of beta thalassaemia?
there is a reduction in beta globulin and so a reduction in HbA (adult haemoglobin)
237
what are 3 signs and symptoms of beta thalassaemia?
1. severe anaemia
2. faltering growth
3. extra-medullary haematopoiesis (formation and maturation of blood cells outside of the bone marrow)
4. heterozygotes are usually asymptomatic
238
how do you treat beta thalassaemia?
1. blood transfusions at the time of symptomatic anaemia
| 2. ensure that there is iron chelation with desferrioxamine to prevent iron overload
239
how many alpha deletions can severe alpha thalassaemia have?
4 alpha deletions
240
how do you diagnose alpha thalassaemia?
1. liquid chromatography
| 2. Hb electrophoresis
241
how do you treat alpha thalassaemia?
1. blood transfusions
| 2. folic acid supplementation
242
why does haemolytic disease of the newborn occur?
antibodies against the rhesus blood group antigens of the baby if the baby is the second rhesus +ve baby of a rhesus -ve mother
243
what are four reasons that anaemia of prematurity occurs?
1. inadequate production of erythropoietin
2. reduced RBC lifespan
3. frequent blood sampling
4. iron/folic acid deficiency
244
what is bone marrow failure syndrome more commonly known as?
aplastic anaemia
245
what are 4 causes of aplastic anaemia?
```
1. inherited
acquired-
2. viruses
3. drugs- sulphonamides and chemo
4. toxins- benzene gluie
```
246
what are 4 signs and symptoms of aplastic anaemia?
1. anaemia
2. peripheral pancytopenia
3. infection
4. easy bruising/ bleeding
247
what is the most common form of inherited aplastic anaemia?
fanconi anaemia
248
what are 3 specific signs of fanconi anaemia?
1. short stature
2. abnormal thumbs
3. renal malformations
249
what age does bone marrow failure become apparent in children with fanconi anaemia?
around age 5-6
250
what condition is fanconi anaemia at risk of transforming into?
acute leukaemia
251
how do you treat fanconi anaemia?
bone marrow transplant
252
what is a rare cause of bone marrow failure and what are 3 signs and symptoms?
shwachman-diamond syndrome
1. bone marrow failure
2. pancreatic failure
3. skeletal abnormalities
253
what 8 screening tests in bloods are necessary to screen for bleeding disorders?
1. FBC
2. blood film
3. PT 2,5,7,10
4. activated partial thromboplastin time/ aptt
5. thrombin time
6. quantitative fibrinogen assay
7. D-dimers
8. biochemical screen
254
what type of inheritance is haemophilia A and B?
X-linked inheritance
255
what factor is deficient in haemophilia A?
factor 8
256
what factor is deficient in haemophilia B?
factor 9
257
what is a rheumatological risk in severe haemophilia?
spontaneous bleeding into muscles and joints that can cause arthritis
258
at what age do most children present with haemophilia?
1 year
259
what are 5 signs and symptoms of haemophilia?
1. excessive bruising and bleeding
2. mucocutaneous bleeding
3. fatigue
4. extensive cutaneous purpura
5. distended and painful abdomen
260
how do you treat haemophilia?
1. recombinant factor 8/9 IV in bleeding
261
what medications/methods of taking medications should be avoided in haemophilia?
1. IM injections
2. NSAIDs
3. aspirin
262
if peripheral access is difficult in haemophilia, what access is required?
central venous catheter
263
what medications can help haemophilia management without blood products?
1. desmopressin
| 2. von willebrand factor- helps platelet adhesion and carries factor 8
264
what is von willebrand disease and what is the inheritance patterns?
a qualitative/ quantitative deficiency in von willebrand factor which is autosomal dominant in inheritance
265
what is the most common type of von willebrand disease and when is it usually diagnosed?
type 1, it is mild and usually diagnosed in puberty
266
what blood reading is given by vitamin K deficiency?
prolonged prothrombin time
267
what platelet count is necessary for thrombocytopenia
<150
268
what are 4 symptoms and signs of thrombocytopenia?
1. bruising
2. petechiae
3. purpura
4. mucosal bleeding
269
what is immune thrombocytopenic purpura and what age does the condition normally present?
IgG autoantibody destruction of platelets. usually presents between 2-10y.
270
if immune thrombocytopenic purpura presents with atypical features, what investigation is necessary, and what are 3 features?
1. anaemia
2. infection
3. lymphadenopathy
bone marrow exam!
271
how do you treat immune thrombocytopenic purpura?
1. oral prednisolone
2. IV anti-D or Ig
3. rituximab is an option
4. splenectomy for drug therapy failure
272
what is disseminated intravascular coagulation?
activation of a coagulation pathway leading to diffuse fibrin deposition in microvasculature
273
what are 2 common caused of DIC and what are 3 symptoms?
causes- severe sepsis or shock
1. bruising
2. purpura
3. haemorrhage
274
what are 5 signs of DIC where it should be suspected?
1. thrombocytopenia
2. prolonged PT
3. prolonged APTT (partial thromboplastin time)
4. low fibrinogen
5. haemolytic anaemia
275
what % of VTE events are secondary to underlying disorders?
95%
276
what are 3 congenital thrombophilia disorders?
1. protein C/S deficiency
2. antithrombin deficiency
3. factor 5 leiden
277
when should you screen for congenital thrombophilia disorders?
in an unanticipated venous thrombosis or child with FH of neonatal purpura fulminans
278
what are 3 common hormonal causes that can lead to secondary disorders of sexual development?
1. excessive androgens in XX
2. inadequate androgen action
3. gonadotropin insufficiency
279
what is an inborn error of metabolism?
a disorder of enzymatic reactions that degrade, synthesise or interconvert molecules within cells
280
what 6 features/signs/symptoms should trigger investigations for inborn errors of metabolism?
1. dysmorphic features
2. severe presentations of common illnesses
3. significant metabolic acidosis
4. unexplained respiratory alkalosis
5. early onset seizures
6. developmental regression
281
what 5 things should be covered in the history when you suspect inborn errors of metabolism?
1. family history of IEoM
2. learning difficulty
3. consanguinity
4. sudden death
5. epilepsy
282
what is a common mode of inheritance for inborn errors of metabolism?
autosomal recessive
283
what are two broad ways of managing inborn errors of metabolism, and what are 2 specific treatments for each?
1. medication- symptomatic therapy, enzyme replacement therapy
2. dietary manipulation- supplying deficient product, prevent accumulation of toxic substrate
284
what is a common trigger of inborn error of metabolism?
infection
285
what should be measured if there is unexplained encephalopathy, respiratory alkalosis, recurrent vomiting or seizures?
ammonia levels (urea cycle error)
286
how do you treat an inborn error of metabolism that cause a high ammonia?
1. stop feeds
2. give 10% dextrose
3. IV ammonia scavengers
4. arginine
287
what are the three types of glycogen storage disorders?
1. hepatic- associated with hypoglycaemia
2. muscular
3. cardiac
288
what are 4 features of glycogen storage disorders?
1. poor feeding
2. hepatomegaly
3. raised lactate
4. neutropenia
289
how do you diagnose lysosomal storage disorders?
1. urinary glycosaminoglycan screen
2. oligosaccharide screen
3. white cell enzyme testing
290
what are mucopolysaccharidoses?
progressive disorder that affects neurological, ocular, cardiac and skeletal function
291
what do most patients with mucopolysaccharidoses present with and what is the treatment?
developmental delay, supportive treatment
292
what 2 signs should make you consider mitochondrial disease?
1. multi-system elevated lactate
| 2. MRI showing characteristic features
293
what is the most common lipid storage disorder?
gaucher disease
294
what is the most common inherited disorder of lipid metabolism?
familial hypercholesterolaemia
295
how do you treat familial hypecholesterolaemia?
1. low fat diet
2. statin
3. ezetimibe
296
what is a pathological cause of musculoskeletal disorder?
rickets
297
what is a common initial symptom of musculoskeletal disorders?
bowing of the tibiae
298
what 2 things are indicated if a child has a painful flat foot?
tendo-achilles contracture or juvenile idiopathic arthritis
299
what are 3 causes of in-toeing?
1. metatarsus varus
2. medial tibial torsion
3. persistent anteversion of femoral neck
300
what degenerative condition should be excluded in older boys with in-toeing?
duchenne muscular dystrophy
301
what is positional talipes and what causes it?
also known as 'clubfoot' where the foot rests downwards and inwards due to intrauterine compression, it can be gently manipulated back into position with passive exercises
302
what is talipes equinovarus?
a complex abnormality where the entire foot is inverted and supinated, affected foot is shorter and the calf is thinner.
303
what are 2 causes of talipes equinovarus?
1. familial
| 2. oligohydramnios
304
how do you treat talipes equinovarus?
plaster casting and bracing
305
what is vertical talus?
the foot is stiff and rocker-bottom in shape (the bottom of the foot is convex rather than concave)
306
how do you treat vertical talus?
corrective surgery
307
what is talipes calcaneovalgus?
dorsiflexed and everted foot
308
what is tarsal coalition and how is it treated?
an abnormal connection between tarsal bones in the foot, it must be treated with surgery as it gets progressively more rigid
309
what are 3 problems with the position of the hip in developmental dysplasia of the hip?
1. dysplasia
2. subluxation
3. dislocation
310
what is the usual presentation of developmental dysplasia of the hip?
limp or abnormal gait
311
what is scoliosis?
lateral curvature in the frontal plane of the spine
312
what is abnormal in the structural form of scoliosis?
rotation of the vertebral bodies causing prominence in the back from rip asymmetry
313
what are 4 causes of scoliosis?
1. idiopathic
2. congenital
3. neuromuscular imbalance
4. connective tissue disorder
314
what is torticollis?
an abnormal, asymmetrical head or neck position
315
what is a common cause of torticollis?
sternocleidomastoid tumour, there will be a mobile, non-tender nodule
316
what are 3 causes of torticollis presenting later in life due to muscular spasm?
1. ENT infection
2. spinal tumour
3. C-spine arthritis
317
what are 3 common characteristics of growing pains?
1. the pain often wakes the child
2. the pain is never present at the start of the day
3. the pain is symmetrical in the lower limbs
318
what 2 broad categories of disorders should be suspected in a child with hypermobile joints?
1. chromosomal abnormalities
| 2. collagen disorders
319
what are 4 signs and symptoms of localised complex regional pain syndrome in the lower limbs?
1. ankle and foot involvement
2. hyperaesthesia
3. allodynia
4. bizarre posturing
320
what are 3 signs and symptoms of diffuse complex regional pain syndrome?
1. widespread pain
2. disturbed sleep patterns
3. feeling exhausted during the day
321
what is osteomyelitis and what are 2 commonly affected locations?
infection of the metaphysis of the long bones usually, often affecting the distal femur and the proximal tibia
322
what infectious cause of osteomyelitis should be considered in the immunocomprimised?
tuberculosis
323
what is the clinical presentation of osteomyelitis?
a painful immobile limb in a child with a febrile illness. infection sites are often erythematous and warm
324
what 2 levels will be raised in bloods of a child with osteomyelitis?
CRP and WCC
325
what blood cancer can present with bone pain in children?
acute lymphoblastic leukaemia
326
what are 3 signs and symptoms of bone tumours?
1. pathological fracture
2. bone pain
3. regional swelling
327
which bones does the benign tumour 'osteoid osteoma' commonly affect children?
1. femur
2. tibia
3. spine
328
what are 2 characteristics of the pain caused by an osteoid osteoma?
1. the pain is more severe at night
| 2. it improves with nsaids
329
what is osgood-schlatter disease?
osteochondritis of a patellar tendon in adolescent physically active males
330
what is the clinical presentation of osgood-schlatter disease?
knee pain following exercise with localised tenderness and swelling. can be bilateral.
331
how do you treat osgood schlatter disease?
1. reduced exercise
2. physiotherapy
3. knee immobiliser splint
332
what is chondromalacia patellae, and who does it usually affect?
a condition where there is softening of the articular cartilage behind the patellae, mostly occurring in adolescent females
333
how do you treat chondromalacia patellae?
physiotherapy
334
what is osteochondritis dissecans?
avascular necrosis of a small segment of bone, usually around the knee, that can cause cracks in the bone and articular cartilage
335
what are 2 signs and symptoms of osteochondritis dissecans?
1. persistent knee pain
| 2. localised tenderness over femoral epicondyles
336
how do you treat osteochondritis dissecans?
1. rest
| 2. quadriceps exercises
337
what are 6 causes of back pain in younger children?
1. mechanical causes
2. tumours
3. vertebral osteomyelitis/ discitis
4. spinal cord/ nerve root entrapment
5. sheuermann disease
6. spondylolysis
338
what condition causes a feeling on instability in the knee and how do you treat it?
subluxation of the patella, quadriceps exercise
339
what is a common cause of acute hip pain in children with a limp?
transient synovitis
340
what is the clinical presentation of transient synovitis causing a limp?
1. acute hip pain following an infection
2. decreased movement
3. referred knee pain
341
what condition might transient synovitis precede in the hip?
perthes disease- avascular necrosis of the capital femoral epiphyses of the femoral head
342
how do you treat transient synovitis?
bed rest and skin traction
343
what is the more common age and gender of children affected by perthes disease?
5:1 boys age 5-10
344
how can you diagnose perthes disease?
bone scan and MRI
345
how do you treat perthes disease?
1. rest
2. physiotherapy
3. plaster casts
4. surgery
346
what can a slipped capital femoral epiphyses lead to if it is not treated with surgery and who is it more common in?
avascular necrosis, most common in obese boys
347
what observations of the movements of the hip can you make in a slipped capital femoral epiphyses and how is it diagnosed?
restricted abduction and internal rotation of the hip, diagnosed by x-ray
348
what are 5 signs and symptoms of acute arthritis in children?
1. pain
2. swelling
3. heat
4. redness
5. restricted movement
349
what is the clinical presentation of reactive arthritis?
transient joint swelling, usually of ankle and knees, following extra-articular infection
350
how do you treat reactive arthritis?
NSAIDS
351
what are 5 signs and symptoms of septic arthritis?
1. erythhema
2. acutely tender joint
3. warm joint
4. reduced range of movement
5. detectable joint effusion
352
what is the most common cause and age in septic arthritis?
staph aureus, <2 years old
353
how do you diagnose septic arthritis?
1. blood cultures
2. fbc with raised WCC and CRP
3. ultrasound showing joint effusion
4. joint aspirate is DIAGNOSTIC since xray is usually normal
354
how do you treat septic arthritis?
prolonged IV abx with joint washout and surgical drainage
355
what is the most common inflammatory joint disease in children?
juvenile idiopathic arthritis
356
what is the clinical presentation of juvenile idiopathic arthritis?
joint swelling >6w in <16yo with no infection. there is stiffness at rest, morning stiffness and pain.
357
what factor may be present in the blood of a patient with juvenile idiopathic arthritis?
antinuclear factor
358
what are 5 complications of juvenile idiopathic arthritis
1. chronic anterior uveitis
2. flexion contracture
3. growth failure
4. anaemia of chronic disease
5. delayed puberty
6. osteoporosis
7. amyloidosis
359
how do you treat juvenile idiopathic arthritis?
1. NSAIDS and analgesics
2. joint injections
3. methotrexate
4. systemic corticosteroids
5. cytokine modulators
360
what is the commonest form of vasculitis in children?
henoch schonlein purpura
361
what is the clinical presentation of henoch schonlein purpura?
purpuric rash on the legs and buttocks, often with abdo pain, haematuria and proteinuria
362
what are 4 signs and symptoms of juvenile dermatomyositis?
1. malaise
2. progressive weakness
3. progressive facial rash
4. muscle pain
363
what are 2 potential complications of juvenile dermatomyositis?
1. respiratory failure
| 2. aspiration pneumonia
364
what is the inheritance pattern of achondroplasia?
autosomal dominant
365
what are 6 features of achondroplasia?
1. short stature
2. large head
3. frontal bossing
4. depression of nasal bridge
5. lumbar lordosis
6. hydrocephalus
366
what are 2 features of thanatophoric dysplasia and what does it commonly result in?
1. large head
2. short limbs with folds of skin
commonly results in stillbirth
367
what is arthrogryphosis?
stiffness and contracture of joints, with muscle atrophy around suspected joints
368
what intrauterine condition is associated with arthrogryphosis?
oligohydramnios
369
how do you manage arthrogryphosis?
1. physiotherapy
| 2. correction of deformities
370
what is osteogenesis imperfecta?
disorder of collagen metabolism causing bone fragility, bowing and frequent fractures
371
what is the inheritance pattern of type 1 osteogenesis imperfecta?
autosomal dominant
372
what are 2 features in childhood that might show a child has type 1 osteogenesis imperfecta?
1. frequent fractures
| 2. blue sclera
373
how do you treat osteogenesis imperfecta type 1?
bisphosphonates
374
which type of osteogenesis imperfecta is the severe lethal form?
type 2
375
what is osteopetresis?
a condition where the bones are dense and brittle
376
what are 5 signs and symptoms of osteopetresis?
1. faltering growth
2. recurrent infection
3. hypocalcaemia
4. anaemia
5. thrombocytopaenia
377
how do you treat osteopetresis?
bone marrow transplant
378
what are 4 signs and symptoms of marfans syndrome
1. tall stature
2. long thin digits
3. hyperextensive joint
4. hyperextensible lenses of the eyes
379
what are the two main cardiovascular problems with marfans syndrome?
aneurysms and valvular incompetence
380
what are 5 causes of disorders of sexual development in women?
1. excessive androgens
2. inadequate androgen action
3. gonadotropin insufficiency
4. ovotesticular DSD
381
what ages must puberty occur in boys and girls to be considered precocious?
1. before 9 years old in boys
| 2. before 8 years old in girls
382
what are 2 central causes of precocious puberty?
1. craniopharyngioma
2. pituitary tumour
(gonadotrophin dependent)
383
what are 2 peripheral causes of precocious puberty?
1. testis or adrenal problems
| 2. raised HCG from a tumour
384
describe the 4 stages of puberty in boys
1. scrotal and testicular enlargement. downy hair. textured scrotum
2. penile growth. darker and curlier hair
3. penile growth in length and breadth, larger glans, adult type hair
4. adult sized testes and scrotum. adult quantity and pattern of pubic hair presenting on the inside of the thighs
385
describe the 4 stages of breast development during puberty
1. areolar enlargement and breast bud development
2. enlargement of entire breast
3. enlargement of the areola and papilla
4. adult breast configuration with protrusion of the nipple
386
describe the 4 stages of pubic hair development during puberty in girls
1. straight hair extending along labia
2. more, darker hair in a triangle formation
3. more dense, curled and adult distribution of hair
4. abundant adult type hair that may extend onto the medial aspect of the thighs
387
what investigations can be done to diagnose precocious puberty?
1. history- onset of secondary sexual characteristics
2. tanner staging of puberty
3. skeletal x-ray for bone age
4. ct/mri
5. tsh, lh, fsh, hcg, afp, gh, pituitary testing
388
how do you manage precocious puberty?
1. synthetic GnRH analogue
2. endogenous oestrogen to accelerate growth
3. reassurance that the child will develop normally
389
how do you define delayed puberty?
lack of any pubertal signs by the age of 13 in girls and 14 in boys
390
what are 3 functional causes of delayed puberty?
1. constitutional delay
2. underlying chronic disease
3. malnutrition
391
what are 2 organic causes of delayed puberty?
1. hypogonadotropic hypogonadism
| 2. hypergonadotropic hypogonadism
392
what is hypogonadotropic hypogonadism?
lack of gonadotropin production or action
393
what is hypergonadotropic hypogonadism?
gonadal insufficiency with elevated gonadotropins
394
what are some investigations that can be done for delayed puberty?
1. height and tanner staging
2. non-dominant wrist x-ray
3. basal fsh and lh testing
4. brain mri
5. thyroid function test
395
how do you manage delayed puberty?
1. support and observation if not psychologically affected
2. short course of testosterone in boys and oestrogen in girls to stimulate puberty
3. treat chronic illness
4. permanent cause in girls add cyclic progesterone after breakthrough bleeding
396
what are 5 useful observations with ambiguous genitalia?
1. exposure to testosterone or progesterone?
2. penis size and urethral position?
3. fused labia?
4. vaginal opening?
5. descended gonads?
397
what are 2 chromosomal disorders of sexual development and what are the corresponding sex chromosomes?
1. turner's syndrome- X
2. klinefelter's syndrome-
XXY
398
what is the clinical presentation of turner's syndrome?
1. short stature
2. premature ovarian failure
3. phenotypically female
4. 20-30% neck webbing
5. dysmorphic features
6. congenital heart defects
399
how do you diagnose turner's syndrome?
1. karyotype testing
2. bone age
3. echocardiogram
4. serum fsh and amh
400
how do you manage turner's syndrome?
1. surveillance and preventive care
2. GH supplementation with poor growth
3. low-dose oestrogen with pubertal delay with cyclic progesterone
4. cardiovascular assessment if cardiac abnormality
5. ovarian HRT, breast implants and monitoring after cyclical bleeding
401
what is the clinical presentation of klinefelter's syndrome?
1. infertility
2. hypogonadism
3. gynaecomastia
4. normal puberty
5. tall stature
402
how do you diagnose klinefelter's syndrome?
1. karyotype test
| 2. blood or urine sampling for hormone levels
403
how do you manage klinefelter's syndrome?
1. testosterone replacement therapy
| 2. speech and language therapy during childhood
404
what % of undescended testis are palpable in the upper portion of the scrotum or the inguinal canal?
70%
405
what are 2 consequences for delayed/ lack of treatment of undescended testis?
1. higher incidence of testicular cancer
| 2. reduced fertility
406
what malformation alongside undescended testis might suggest a disorder of sexual development?
hypospadias
407
how do you treat undescended testis?
1. if palpable- orchiopexy
2. if non-palpable-
exam under anaesthesia and orchiopexy, or surgical exploration
3. if bilateral non-palpable-
endocrinology and urology referral
4. post-pubertal-
biopsy (as well as orchiopexy or orchiectomy)
408
what are the three types of congenital hypothyroidism?
1. athyreosis
2. thyroid dysgenesis
3. dyshormonogenesis
409
what are 3 acquired causes of hypothyroidism?
1. prematurity
2. hashimoto's thyroiditis
3. hypopituitarism
410
what are 5 signs of hypothyroidism at birth?
1. prolonged neonatal jaundice
2. poor feeding
3. hypotonia
4. widely opened posterior fontanelle
5. inactivity
411
what are 4 later signs of hypothyroidism in children?
1. delayed puberty
2. short stature
3. low IQ
4. delayed dentition
412
how do you diagnose cogenital/acquired hypothyroidism?
1. universal neonatal screening - heel prick
2. low T4, high TSH, low Hb
3. bone age less than physical age
413
how do you manage hypothyroidism?
levothyroxine replacement adjusted according to growth and clinical state
414
what is the typical clinical presentation of hyperthyroidism?
pubertal girl with palpitations, tremor, anxiety and tachycardia
415
how do you diagnose hyperthyroidism?
1. low TSH and high T4
| 2. fine needle cytology of goitres may show juvenile autoimmune thyroiditis
416
how do you manage hyperthyroidism?
1. carbimazole
| 2. propylthiouracil until euthyroid then lower maintenance dose
417
what is the clinical presentation of croup?
Usually a child under the age of 6, with stridor, a barking cough, and hoarseness from laryngeal obstruction
418
what time of year is croup the most common?
autumn
419
what are 3 viral causes of croup?
1. parainfluenza virus
2. respiratory syncytial virus
3. measles
420
what is the pathophysiology of croup?
subglottic oedema, inflammation and exudate
421
how do you treat croup?
mild disease (minimal recession, stridor, no cyanosis) can be sent home with oral dexamethasone, children with more severe cases must be treated with a steroid, given oxygen if they have low sats or decompensation and nebulised adrenaline if there is a poor response
422
if croup fails to improve with steroids, what condition should be considered?
bacterial tracheitis
423
what are the three upper respiratory tract pathologies that cause stridor in children?
1. croup
2. epiglottitis
3. bacterial tracheitis
424
what is the commonest lung infection in children?
acute bronchiolitis
425
what are 5 signs and symptoms of acute bronchiolitis?
1. cough
2. tachypnoea
3. wheeze
4. inspiratory crackles
5. coryza (preceding cough)
426
what virus typically causes acute bronchiolitis?
respiratory syncytial virus
427
what investigations should be done in acute bronchiolitis?
if severe, CXR to exclude pneumothroax or lobar collapse, blood gases and FBC
428
how do you treat acute bronchiolitis?
1. oxygen until sp02 is around 92%
2. nasogastric feeding
3. steroids and nebulised adrenaline can reduce changes of admission
429
what should be given to immune compromised patients in order to prevent them developing acute bronchiolitis?
ribavirin prophylaxis
430
what are 6 signs and symptoms of pneumonia?
1. malaise
2. poor feeding
3. respiratory distress
4. tachypnoea
5. cyanosis
6. typical lobar signs in older children (pleural pain, crackles, bronchial breathing
431
what is the oxygen saturation threshold for admittance in children with pneumonia?
92% with signs of respiratory distress
432
what tests should be done for pneumonia?
1. CXR
2. FBC
3. sputum cultures
4. blood cultures
these are considered in severe pneumonia and are not regularly required in community-acquired pneumonia
433
is viral or bacterial lower respiratory tract infection more common in children?
viral
434
how do you treat pneumonia?
1. mild cases can be discharged with no antibiotics
| 2. amoxicillin 1st line, alternatives are co-amoxiclav, azithromycin
435
what are four bacterial causes of pneumonia?
1. pneumococcus
2. mycoplasma
3. haemophilus
4. staphylococcus
436
what lower respiratory tract condition should be considered in children if they have overseas contacts, are HIV positive or have a strange CXR?
tuberculosis
437
what are 3 signs of whooping cough?
1. apnoea
2. bouts of coughing that end with vomiting and are worse at nights or with feeds
3. whooping after coughing
438
how do you diagnose whooping cough?
PCR via nasal swab
439
how do you treat whooping cough?
1. azithromycin if infants are under 1 month of age
| 2. children greater than 1 month of age are given a macrolide or trimethoprim
440
is diphtheria an URTI or a LRTI?
an URTI
441
what are 5 signs and symptoms of diphtheria?
1. tonsilitis
2. dysphagia
3. muffled voice
4. pronchopneumonia
5. brassy cough and then airway obstruction
442
how do you diagnose diphtheria?
PCR of swab below pseudomembrane in the oropharynx
443
how do you treat diphtheria?
diphtheria antitoxin and erythromycin
444
what % of the paediatric population is asthmatic?
10%
445
what are 4 factors that increase the prevalence of asthma?
1. low birthweight
2. family history
3. atopy
4. pollution
446
what are 5 triggers for asthma?
1. pollen
2. house dust mite
3. feathers
4. fur
5. exercise
447
what are 4 differentials for an asthma attack?
1. foreign body
2. pertussis
3. croup
4. pneumonia
448
what are 5 aspects of the general management of asthma?
1. annual symptom review
2. oral steroid use
3. check inhaler technique
4. check medication adherence
5. personalised self-management action plan
449
how do you treat a standard exacerbation of asthma?
rescue prednisolone
450
what is the stepwise treatment algorithm for asthma?
1. begin with an inhaled beta agonist like salbutamol
2. add an inhaled steroid like beclometasone
3. review diagnosis, check concordance, eliminate triggers
4. add a dose of montelukast
5. refer to specialist and increase inhaled steroid dose
6. add prednisolone at the lowest functional dose
451
what are 6 important points in the treatment of severe asthma in an emergency?
1. sit the patient up and put them on 100% oxygen
2. nebulised salbutamol with ipatropium bromide
3. hydrocortisone or prednisolone
4. consider a dose of magnesium sulfate
5. IV aminophylline
6. nebulise continuously until improvement and then in less frequent intervals
452
what 4 things should be ensured before discharge follow a severe exacerbation of asthma?
1. the peak flow is greater than 75% of the predicted peak flow
2. there is good inhaler technique
3. the patient is stable on the discharge regimen
4. there is a written management plan
453
what are 3 symptoms of a life threatening asthma exacerbation?
1. PEFR <33% of expected
2. sats <92%
3. silent chest
454
what are 3 symptoms of an acute severe asthma exacerbation?
1. PEFR 33-50% of expected
2. inability to complete sentences
3. use of accessory muscles
455
what are 3 symptoms of a moderate asthma exacerbation?
1. PEFR 50-70% of expected
2. no features of severe asthma
3. worsening symptoms
456
what are the two types of brittle asthma?
1. type 1- wide variability in PEFR despite intensive therapy
2. type 2- sudden severe attacks despite apparently well controlled asthma
457
what pathological changes does a dry cough with a prolonged expiratory phase suggest?
narrowing of small-moderate sized airways
458
what pathological changes does a barking cough suggest?
tracheal inflammation
459
what pathological changes does a moist cough suggest?
lower airway infection
460
what is the current life expectancy for newborns with cystic fibrosis?
40s
461
which chromosome is the CFTR gene on?
chromosome 7
462
what substance is raised in blood taken from the heel in infants who have cystic fibrosis?
immunoreactive trypsinogen
463
what substance is low in the blood that demonstrates pancreatic insufficiency due to cystic fibrosis?
faecal elastase
464
how do you diagnose cystic fibrosis?
1. sweat test detecting chloride
| 2. older children children can have spirometry
465
how do you treat cystic fibrosis?
1. physiotherapy 2x a day to clear mucus
2. physical exercise
3. prophylactic abx with fluclox
4. azithromycin to reduce infections
5. lung transplantation
466
what is primary ciliary dyskinesia?
congenital abnormality in structure and function of cilia
467
what are 5 signs and symptoms of primary ciliary dyskinesia?
1. recurrent urti/lrti
2. recurrent productive cough
3. purulent nasal discharge
4. chronic ear infections
5. 50% dextrocardia (heart is flipped)
468
how do you treat primary ciliary dyskinesia?
daily physiotherapy and antibiotics
469
what are 4 causes of heart failure in neonates?
1. hypoplastic left heart syndrome
2. aortic stenosis
3. coarctation of the aorta
4. interruption of the aortic arch
470
what are 3 causes of heart failure in infants?
1. VSD
2. ASD
3. patent ductus arteriosus
471
what are 3 causes of heart failure in older children?
1. cardiomyopathy
2. eisenmengers
3. rheumatic heart disease
472
if heart failure is progressive in the first week of life, what kind of shunt is it?
left to right shunt
473
what are 3 causes of left to right shunt?
1. ASD
2. VSD
3. patent ductus arteriosus
474
what are signs and symptoms of left to right shunts?
1. chronic chest infections
2. heart failure
3. arrhythmias
4. ejection systolic murmur
5. cardiomegaly
475
what are 5 signs of large ventricular septal defects?
1. tachycardia
2. tachypnoea
3. hepatomegaly
4. soft pansystolic murmur
5. cardiomegaly
476
how do you treat paediatric heart failure due to large ventricular septal defects?
1. diuretics- captopril
2. increased calories
3. surgery to repair the defect
477
what murmur is heard with a patent ductus arteriosus?
continuous murmur below the left clavicle
478
what type of pulse is there with patent ductus arteriosus?
collapsing pulse
479
what complications can arise with a large patent ductus arteriosus?
1. heart failure
| 2. pulmonary hypertension
480
how do you treat patent ductus arteriosus?
surgical closure with coil or occlusion device
481
what infection does treatment of patent ductus arteriosus help to prevent?
bacterial endocarditis
482
what are 2 causes of right to left shunts?
1. tetralogy of fallot
| 2. translocation of the great arteries
483
how do right to left shunts usually present?
cyanosis in the first week of life
484
what is the nitrogen washout test and what is it used for?
it is used to determine if a cyanosed neonate has heart disease. the neonate is placed in 100% O2 for 10 minutes and if the right radial artery PaO2 remains low, they have heart disease.
485
how do you manage a cyanosed neonate?
1. ABC
| 2. prostaglandin infusion
486
what are the 4 features of tetralogy of fallot?
1. overriding aorta
2. subpulmonary stenosis
3. right ventricular hypertrophy
4. large ventricular septal defect
487
what murmur and nail pathology are present in children with tetralogy of fallot?
1. loud ejection systolic murmur at left sternal edge
| 2. clubbing
488
what does the CXR look like with tetralogy of fallot?
small, boot shaped heart with an untilted apex and decreased pulmonary vascular markings
489
how do you manage hypercyanotic spells in children with tetralogy of fallot?
1. pain relief
2. sedation
3. iv propranolol
4. bicarbonate
5. muscle paralysis/ ventilation
490
what is translocation of the great arteries?
the aorta is connected to the right ventricle and the pulmonary artery is connected to the left ventricle
491
is translocation of the great arteries a cyanotic condition?
yes
492
what can be heard on auscultation in translocation of the great arteries?
the 2nd heart sound is loud and single
493
how do you treat translocation of the great arteries?
1. maintain ductus arteriosus with prostaglandins
2. ballon atrial septostomy to enlarge the foramen ovale
3. arterial switching surgery
494
what syndrome can develop with untreated translocation of the great arteries?
eisenmenger syndrome, where the shunt reverses to a left to right shunt
495
what genetic condition are atrioventricular septal defects commonly seen in?
Down Syndrome
496
what are the three lesions associated with outflow obstruction in a well child?
1. aortic stenosis
2. pulmonary stenosis
3. adult-type coarctation of the aorta
497
what are three lesions associated with outflow obstruction in a sick child?
1. coarctation of the aorta
2. interruption of the aortic arch
3. hypoplastic left heart syndrome
498
what is the most common childhood arrhythmia?
SVT (supraventricular tachycardia)
499
how does supraventricular tachycardia present?
1. pulmonary oedema
2. heart failure
3. hydrops foetalis
500
how do you treat supraventricular tachycardia?
1. circulatory/ respiratory support
2. vagal stimulating manoeuvre with IV adenosine
3. electrical cardioversion
501
what are 5 signs and symptoms of infective endocarditis?
1. sustained fever
2. malaise
3. raised ESR
4. unexplained anaemia
5. haematuria
502
how do you diagnose infective endocarditis?
1. blood culture
| 2. ECHO is diagnostic
503
how do you treat infective endocarditis?
1. high dose penicillin and aminoglycoside IV
2. surgical removal of prosthetic valves
3. good dental hygiene for prophylaxis
504
what is the clinical presentation of dilated cardiomyopathy?
previously well child presenting with HF and cardiomegaly
505
how do you diagnose dilated cardiomyopathy?
ECHO
506
how do you treat dilated cardiomyopathy?
1. diuretics
2. ace inhibitors
carvedilol
507
what are 5 signs and symptoms of myocarditis?
1. fatigue
2. dyspnoea
3. chest pain
4. fever
5. palpitations
508
how do you treat myocarditis?
most cases resolve by themselves but some patients will get intractable heart failure and require a heart transplant
