Pathology Part 2 Flashcards
(164 cards)
1
Q
Homocystinuria
A
A rare autosomal recessive disease caused by a deficiency of cystathionine beta synthase. This results in severe elevations in plasma and urine homocysteine concentrations.
2
Q
Features of Homocystinuria
A
> often patients have fine, fair hair
Marfanoid body habitus: arachnodactyly
kyphosis
may have learning difficulties, seizures
downwards dislocation of lens
severe myopia
increased risk of arterial and venous thromboembolism
also malar flush, livedo reticularis
3
Q
Arachnodactyly
A
Spidery fingers, and describes the long, slender fingers typical of patients with Marfan syndrome (MFS).
4
Q
kyphosis
A
A curvature of the spine measuring 50 degrees or greater on an X-ray,
5
Q
Investigations for Homocystinuria
A
- increased homocysteine levels in serum and urine
2. cyanide-nitroprusside test: also +ve in cystinuria
6
Q
Treatment for Homocystinuria
A
Vitamin B6 (pyridoxine) supplements
7
Q
Infantile colic
A
It typically occurs in infants less than 3 months old and is characterised by bouts of excessive crying and pulling-up of the legs, often worse in the evening.
8
Q
Infantile spasms
A
A type of childhood epilepsy which typically presents in the first 4 to 8 months of life and is more common in male infants. They are often associated with a serious underlying condition and carry a poor prognosis
9
Q
Infantile spasms features
A
Characteristic ‘salaam’ attacks
Progressive mental handicap
10
Q
Salaam attacks
A
Seen in Infantile spasms
Flexion of the head, trunk and arms followed by extension of the arms - lasts only 1-2 seconds but may be repeated up to 50 times
11
Q
Investigations for Infantile spasms
A
- EEG shows hypsarrhythmia in two-thirds of infants
2. CT demonstrates diffuse or localised brain disease in 70% (e.g. tuberous sclerosis)
12
Q
Infantile spasms management
A
> poor prognosis
vigabatrin is now considered first-line therapy
ACTH is also used
13
Q
Vigabatrin
A
Anti-epileptic drug
Inhibits the GABA-degrading enzyme, GABA transaminase, resulting in a widespread increase in GABA concentrations in the brain.
14
Q
Still’s murmur
A
Innocent murmur
Low-pitched sound heard at the lower left sternal edge
15
Q
Venous hums
A
Innocent murmur - Due to the turbulent blood flow in the great veins returning to the heart. Heard as a continuous blowing noise heard just below the clavicles
16
Q
Innocent murmurs
A
Are ejection murmurs including the Still’s murmur and Venous hums
17
Q
Characteristics of an innocent ejection murmurs
A
- soft-blowing murmur in the pulmonary area
- short buzzing murmur in the aortic area
- may vary with posture
- localised with no radiation
- no diastolic component
- no thrill
- no added sounds (e.g. clicks)
- asymptomatic child
- no other abnormality
18
Q
Intraventricular haemorrhage
A
A haemorrhage that occurs into the ventricular system of the brain. In premature neonates it may occur spontaneously. The blood may clot and occlude CSF flow, hydrocephalus may result.
19
Q
What is the time-frame for development of intraventricular hemorrhage in neonates?
A
In the first 72 hours after birth
20
Q
Intussusception
A
Describes the invagination of one portion of bowel into the lumen of the adjacent bowel, most commonly around the ileo-caecal region.
21
Q
What is the time-frame for development of Intussusception?
A
Infants between 6-18 months old.
Boys are affected twice as often as girls
22
Q
Features of Intussusception
A
- Paroxysmal abdominal colic pain
- During paroxysm the infant will characteristically draw their knees up and turn pale
- Vomiting
- Bloodstained stool - ‘red-currant jelly’ - is a late sign
- Sausage-shaped mass in the right upper quadrant
23
Q
Investigation for Intussusception
A
Ultrasound - show a target-like mass
24
Q
Management of Intussusception
A
> Reduction by air insufflation under radiological control,
If fails, or signs of peritonitis, surgery is performed
25
Causes of Jaundice in the first 24 hours of life
Always pathological
1. rhesus haemolytic disease
2. ABO haemolytic disease
3. hereditary spherocytosis
4. glucose-6-phosphodehydrogenase
26
Jaundice in the neonate from 2-14 days
Common (up to 40%) and usually physiological.
27
Physiological jaundice
Jaundice in the neonate from 2-14 days - common
28
Causes of Prolonged Jaundice >14 days
1. biliary atresia
2. hypothyroidism
3. galactosaemia
4. urinary tract infection
5. breast milk jaundice
6. prematurity - due to immature liver function
8. congenital infections e.g. CMV, toxoplasmosis
29
Investigations for prolonged jaundice
> conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention
```
> direct antiglobulin test (Coombs' test)
> TFTs
> FBC and blood film
> urine for MC&S and reducing sugars
> U&Es and LFTs
```
30
Important diagnostic investigation for Biliary atresia
Conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention
31
Juvenile idiopathic arthritis (JIA)
Now preferred to the older term juvenile chronic arthritis, describes arthritis occurring in someone who is less than 16 years old that lasts for more than 6 weeks.
32
Pauciarticular JIA
Refers to cases where 4 or less joints are affected. It accounts for around 60% of cases of JIA
33
Features of systemic onset JIA
1. pyrexia
2. salmon-pink rash
3. lymphadenopathy
4. arthritis
5. uveitis
6. anorexia and weight loss
34
Investigations for JIA
ANA may be positive
| Rheumatoid factor is usually negative
35
Kawasaki disease
A type of vasculitis which is predominately seen in children.
36
Features of Kawasaki disease
1. high-grade fever which lasts for > 5 days.
2. Fever is characteristically resistant to antipyretics
3. conjunctival injection
4. bright red, cracked lips
5. strawberry tongue
6. cervical lymphadenopathy
7. red palms on hands and soles of feet which later peel
37
Management of Kawasaki disease
1. high-dose aspirin
| 2. intravenous immunoglobulin
38
Why is aspirin contraindicated in children usually?
Due to the risk of Reye's syndrome aspirin is normally contraindicated in children
39
What is one condition where aspirin can be used in children?
Kawasaki disease
40
Investigation for Kawasaki disease
Clinical diagnosis - no specific test
| Echocardiogram is used as the initial screening test for coronary artery aneurysms
41
What is a complication of Kawasaki disease
Coronary artery aneurysm
42
Chondromalacia patellae
Softening of the cartilage of the patella
Common in teenage girls
Characteristically anterior knee pain on walking up and down stairs and rising from prolonged sitting
Usually responds to physiotherapy
43
Osgood-Schlatter disease
| tibial apophysitis
Seen in sporty teenagers
| Pain, tenderness and swelling over the tibial tubercle
44
Osteochondritis dissecans
Pain after exercise
| Intermittent swelling and locking
45
Patellar subluxation
Medial knee pain due to lateral subluxation of the patella
| Knee may give way
46
Patellar tendonitis
More common in athletic teenage boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination
47
McCune-Albright syndrome
Not inherited, it is due to a random, somatic mutation in the GNAS gene.
48
Features of McCune-Albright syndrome
1. precocious puberty
2. cafe-au-lait spots
3. polyostotic fibrous dysplasia
4. short stature
49
Measles
> RNA paramyxovirus
> spread by droplets
> infective from prodrome until 4 days after rash starts
> incubation period = 10-14 days
50
Features of Measles
1. prodrome: irritable, conjunctivitis, fever
2. Koplik spots (before rash):
3. white spots ('grain of salt') on buccal mucosa
4. rash: starts behind ears then to whole body,
5. discrete maculopapular rash becoming blotchy & confluent
51
What is the prodrome symptoms of measles?
Irritable, conjunctivitis, fever
52
Koplik spots
Seen in measles - small, white spots that occur on the inside of the cheeks early in the course of measles.
53
Investigations for Measles
IgM antibodies can be detected within a few days of rash onset
54
Management of measles
> mainly supportive
> admission may be considered in immunosuppressed or pregnant patients
> Inform public health
55
Most common complication of measles
Otitis media
56
Most common complication causing death in measles
Pneumonia
57
Meckel's diverticulum
A congenital diverticulum of the small intestine.
A remnant of the vitellointestinal duct and contains ectopic ileal, gastric or pancreatic mucosa
58
Features of Meckel's diverticulum
Abdominal pain mimicking appendicitis
Rectal bleeding
Intestinal obstruction
59
Most common cause of painless massive GI bleeding requiring a transfusion in children between the ages of 1 and 2 years
Meckel's diverticulum
60
Management of Meckel's diverticulum
Removal if narrow neck or symptomatic
61
Meconium aspiration syndrome
Refers to respiratory distress in the newborn as a result of meconium in the trachea. It occurs in the immediate neonatal period.
62
What ages are the 3 doses of the MEN B vaccine given?
2 months
4 months
12-13 months
63
Contraindication to lumbar puncture
```
focal neurological signs
papilloedema
significant bulging of the fontanelle
disseminated intravascular coagulation
signs of cerebral herniation
meningococcal septicaemia
```
64
Management of Meningitis in children
< 3 months: IV amoxicillin (or ampicillin) + IV cefotaxime
| > 3 months: IV cefotaxime (or ceftriaxone)
65
Meningitis organisms - Neonatal to 3 months
Group B Streptococcus
E. coli and other Gram -ve organisms
Listeria monocytogenes
66
Meningitis organisms - Greater than 6 years
```
Neisseria meningitidis (meningococcus)
Streptococcus pneumoniae (pneumococcus)
```
67
Meningitis organisms - 1 month to 6 years
```
Neisseria meningitidis (meningococcus)
Streptococcus pneumoniae (pneumococcus)
Haemophilus influenzae
```
68
When are the MMR vaccine doses given?
12-15 months
| 3-4 years
69
Contraindications for the MMR vaccine
1. severe immunosuppression
2. allergy to neomycin
3. Received another live vaccine within 4 weeks
4. pregnancy should be avoided for at least 1 month following vaccination
5. immunoglobulin therapy within the past 3 months
70
Irritant dermatitis nappy rash
The most common cause, due to irritant effect of urinary ammonia and faeces
Creases are characteristically spared
71
Candida dermatitis nappy rash
Typically an erythematous rash which involve the flexures and has characteristic satellite lesions
72
Atopic eczema nappy rash
Other areas of the skin will also be affected
73
Seborrhoeic dermatitis nappy rash
Erythematous rash with flakes. May be coexistent scalp rash
74
Thyroglossal cyst
Located in the anterior triangle, usually in the midline and below the hyoid (65% cases)
Derived from remnants of the thyroglossal duct
75
Branchial cyst
Usually located anterior to the sternocleidomastoid near the angle of the mandible - in the neck or just below the collarbone.
76
Leading causes of death among premature infants
Necrotising enterocolitis
77
Symptoms of Necrotising enterocolitis
Initial symptoms can include feeding intolerance, abdominal distension and bloody stools, which can quickly progress to abdominal discolouration, perforation and peritonitis.
78
Necrotising enterocolitis
Serious gastrointestinal problem that mostly affects premature babies. The condition inflames intestinal tissue, causing it to die. A hole (perforation) may form in your baby's intestine. Bacteria can leak into the abdomen (belly) or bloodstream through the hole.
79
Features of Necrotising enterocolitis on abdominal X ray
> dilated bowel loops
> bowel wall oedema
> pneumatosis intestinalis (intramural gas)
> portal venous gas
> pneumoperitoneum resulting from perforation
80
Guthrie test
Neonatal blood spot screening ( 'heel-prick test') is performed at 5-9 days of life
81
What conditions are screened for in the Guthrie test (heel-prick test)?
```
congenital hypothyroidism
cystic fibrosis
sickle cell disease
phenylketonuria
medium chain acyl-CoA dehydrogenase deficiency (MCADD)
maple syrup urine disease (MSUD)
isovaleric acidaemia (IVA)
glutaric aciduria type 1 (GA1)
homocystinuria (pyridoxine unresponsive) (HCU)
```
82
Neonatal hypoglycaemia
Normal term babies often have hypoglycaemia especially in the first 24 hrs of life.
There is no agreed definition of neonatal hypoglycaemia but a figure of < 2.6 mmol/L is used in many guidelines.
83
Management of Neonatal hypoglycaemia
Asymptomatic - encourage normal feeding & monitor blood glucose
Symptomatic or very low blood glucose - admit to the neonatal unit & intravenous infusion of 10% dextrose
84
Neonatal sepsis
Occurs when a serious bacterial or viral infection in the blood affects babies within the first 28 days of life.
85
Neonatal sepsis categories
Early-onset within 72 hours of birth
| Late-onset between 7-28 days of life
86
Cause of Early onset Neonatal sepsis
GBS infection
87
Cause of late onset Neonatal sepsis
Staphylococcus epidermidis, Pseudomonas aeruginosa, Klebsiella, Enterobacter, and fungal species
88
Nephrotic syndrome in children
proteinuria (> 1 g/m^2 per 24 hours)
hypoalbuminaemia (< 25 g/l)
oedema
89
Common cause of Nephrotic syndrome in children between 2 and 5 years old
Minimal change glomerulonephritis - good prognosis and responds well to high dose steriods
90
Newborn resuscitation
1. Dry baby and maintain temperature
2. Assess tone, respiratory rate, heart rate
3. If gasping or not breathing give 5 inflation breaths*
4. Reassess (chest movements)
5. If the heart rate is not improving and <60bpm start compressions and ventilation breaths at a rate of 3:1
91
Management of Nocturnal enuresis
```
> Possible underlying causes/triggers
> Advise on fluid intake, diet and toileting
> Reward systems (e.g. Star charts).
> Enuresis alarm for children <7 years
> desmopressin for children >7
```
92
Paediatric basic life support - rate of compressions
Compression:ventilation ratio: lay rescuers should use a ratio of 30:2.
If there are two or more rescuers with a duty to respond then a ratio of 15:2 should be used
93
Paediatric basic life support
```
> unresponsive?
> shout for help
> open airway
> look, listen, feel for breathing
> give 5 rescue breaths
> check for signs of circulation
> infants use brachial or femoral pulse, children use femoral pulse
> 15 chest compressions:2 rescue breaths
```
94
Pyloric stenosis features
Projectile non bile stained vomiting at 4-6 weeks of life
95
Pyloric stenosis diagnosis
Test feed or USS
96
Pyloric stenosis management
Ramstedt pyloromyotomy
97
Pyloric stenosis
Uncommon condition in infants that blocks food from entering the small intestine. Normally, a muscular valve (pylorus) between the stomach and small intestine holds food in the stomach until it is ready for the next stage in the digestive process.
98
Oesophageal atresia
Associated with tracheo-oesophageal fistula and polyhydramnios
May present with choking and cyanotic spells following aspiration
99
Meconium ileus
Usually delayed passage of meconium and abdominal distension
| The majority have cystic fibrosis
100
Patent ductus arteriosus
Form of congenital heart defect where a connection between the pulmonary trunk and descending aorta exists.
Usually, the ductus arteriosus closes with the first breaths due to increased pulmonary flow which enhances prostaglandins clearance
101
Features of Patent ductus arteriosus
```
> left subclavicular thrill
> continuous 'machinery' murmur
> large volume, bounding, collapsing pulse
> wide pulse pressure
> heaving apex beat
```
102
Patent ductus arteriosus management
Indomethacin or ibuprofen - inhibits prostaglandin synthesis & closes the connection in the majority of cases
If associated with another congenital heart defect amenable to surgery then prostaglandin E1 is useful to keep the duct open until after surgical repair
103
Perthes' disease
Ages of 4-8 years.
Avascular necrosis of the femoral head
Impaired blood supply to the femoral head causes bone infarction.
104
Perthes' disease features
hip pain: develops progressively over a few weeks
limp
stiffness and reduced range of hip movement
105
Complications of Perthes' disease
osteoarthritis
| premature fusion of the growth plates
106
Diagnosis of Perthes' disease
Plain x-ray
| Technetium bone scan or magnetic resonance imaging if normal x-ray and symptoms persist
107
Phenylketonuria (PKU
An autosomal recessive condition caused by a disorder of phenylalanine metabolism. Due to defect in phenylalanine hydroxylase, an enzyme which converts phenylalanine to tyrosine.
108
Most likely causative agent of a bacterial pneumonia in children
S .pneumoniae
109
Most common diagnoses made on paediatric wards
Viral-induced wheeze
110
Precocious puberty
'development of secondary sexual characteristics before 8 years in females and 9 years in males'
111
Moro reflex
Head extension causes abduction followed by adduction of the arms
Present from birth to around 3-4 months of age
112
Grasp reflex
Flexion of fingers when object placed in palm
| Present from birth to around 4-5 months of age
113
Rooting reflex
Assists in breastfeeding
| Present from birth to around 4 months of age
114
Stepping reflex
Also known as walking reflex
| Present from birth to around 2 months of age
115
Males first sign of puberty
First sign is testicular growth at around 12 years of age
116
Females first sign of puberty
first sign is breast development at around 11.5 years of age (range = 9-13 years)
117
Pulmonary hypoplasia
A term used for newborn infants with underdeveloped lungs
118
Blood gas changes in pyloric stenosis
hypochloraemic, hypokalaemic alkalosis
119
Most common ocular malignancy found in children
Retinoblastoma
120
Inheritance of retinoblastoma
Autosomal dominant
Caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13
121
Roseola infantum features
```
> High fever: lasting a few days, followed later by a
> maculopapular rash
> Nagayama spots
> febrile convulsions
> diarrhoea and cough
```
122
Nagayama spots
Erythematous papules on the uvula and soft palate - seen in Roseala Infantum
123
Scarlet fever
A reaction to erythrogenic toxins produced by Group A haemolytic streptococci (usually Streptococcus pyogenes). It is more common in children aged 2 - 6 years with the peak incidence being at 4 years.
124
Features of scarlet fever
```
fever: typically lasts 24 to 48 hours
malaise, headache, nausea/vomiting
sore throat
'strawberry' tongue
rash
```
125
Rash features in Scarlet fever
Fine punctate erythema ('pinhead') which generally appears first on the torso and spares the palms and soles
It is often described as having a rough 'sandpaper' texture
126
Diagnosis of Scarlet fever
A throat swab is normally taken but antibiotic treatment should be commenced immediately, rather than waiting for the results
127
Management of Scarlet fever
1. oral penicillin V for 10 days
2. penicillin allergy should be given azithromycin
3. Return to school 24 hours after antibiotics started
4. scarlet fever is a notifiable disease
128
Seborrhoeic dermatitis in children
It typically affects the scalp ('Cradle cap'), nappy area, face and limb flexures.
129
Cradle cap
An early sign of Seborrhoeic dermatitis in children which may develop in the first few weeks of life.
It is characterised by an erythematous rash with coarse yellow scales.
130
Shaken baby syndrome
Triad of retinal haemorrhages, subdural haematoma, and encephalopathy. This is caused by the intentional shaking of a child (0-5 years old).
131
Craniosynostosis
premature fusion of skull bones
132
Slipped capital femoral epiphysis
Rare hip condition seen in children, classically seen in obese boys.
133
Slipped capital femoral epiphysis features
1. hip, groin, medial thigh or knee pain
2. loss of internal rotation of the leg in flexion
3. bilateral slip in 20% of cases
134
Sotos syndrome
Autosomal dominant disorder characterised by excessive physical growth during the first 2 to 3 years of life - Caused by a mutation in the NSD1 gene
135
Causes of Stridor in children
Croup
Acute epiglottis
Inhaled foreign body
Laryngomalacia
136
Commonest cause of death in the first year of life.
Sudden infant death syndrome
137
Major risk factors for Sudden infant death syndrome
1. putting the baby to sleep prone
2. parental smoking
3. prematurity
4. bed sharing
5. hyperthermia
138
Protective factors against Sudden infant death syndrome
1. breastfeeding
2. room sharing (but not bed sharing)
3. the use of dummies (pacifiers)
139
Surfactant deficient lung disease
A condition seen in premature infants. It is caused by insufficient surfactant production and structural immaturity of the lungs
140
Threadworms
Infestation with threadworms (Enterobius vermicularis, sometimes called pinworms) is extremely common amongst children in the UK. Infestation occurs after swallowing eggs that are present in the environment.
141
Threadworms features
Usually asymptomatic
Perianal itching, particularly at night
Girls may have vulval symptoms
142
Threadworms management
1. Combination of anthelmintic with hygiene measures for all members of the household
2. Mebendazole is used first-line for children > 6 months old. A single dose is given unless infestation persists
143
Transient synovitis
Referred to as irritable hip. It generally presents as acute hip pain following a recent viral infection. The typical age group is 3-8 years.
144
Commonest cause of hip pain in children
Transient synovitis
145
Transient synovitis features
1. limp/refusal to weight bear
2. groin or hip pain
3. a low-grade fever maybe present
4. high fever should may point to septic arthritis
146
Transient tachypnoea of the newborn
The commonest cause of respiratory distress in the newborn period. It is caused by delayed resorption of fluid in the lungs
147
The commonest cause of respiratory distress in the newborn period
Transient tachypnoea of the newborn
148
Transposition of the great arteries features
```
> cyanosis
> tachypnoea
> loud single S2
> prominent right ventricular impulse
> 'egg-on-side' appearance on chest x-ray
```
149
Treatment of Transposition of the great arteries features
1. maintenance of the ductus arteriosus with prostaglandins
| 2. surgical correction is the definite treatment.
150
Umbilical hernia
Are relatively common in children and may be found during the newborn exam. Usually no treatment is required as they typically resolve by 3 years of age
151
Complications of Undescended testes
1. infertility
2. torsion
3. testicular cancer
4. psychological
152
Management of Unilateral undescended testis
Referral should be considered from around 3 months of age, with the baby ideally seeing a urological surgeon before 6 months of age
153
Management of Bilateral undescended testis
Should be reviewed by a senior paediatrician within 24hours as the child may need urgent endocrine or genetic investigation
154
Common causes of Urinary tract infection in children
> E. coli (responsible for around 80% of cases)
> Proteus
> Pseudomonas
155
Features of Urinary tract infection in children
> infants: poor feeding, vomiting, irritability
> younger children: abdominal pain, fever, dysuria
> older children: dysuria, frequency, haematuria
156
Vesicoureteric reflux (VUR)
Abnormal backflow of urine from the bladder into the ureter and kidney. It is a relatively common abnormality of the urinary tract in children and predisposes to urinary tract infection (UTI).
157
Whooping cough (pertussis)
An infectious disease caused by the Gram-negative bacterium Bordetella pertussis. It typically presents in children.
158
Whooping cough (pertussis) features
```
> coughing bouts
> central cyanosis
> inspiratory whoop: not always present
> infants may have spells of apnoea
> seizures
> symptoms may last 10-14 weeks
> marked lymphocytosis
```
159
Diagnostic criteria in Whooping cough
Acute cough that has lasted for 14 days or more
Paroxysmal cough.
Inspiratory whoop.
Post-tussive vomiting.
Undiagnosed apnoeic attacks in young infants.
160
Management of Whooping cough in infants less than 6 months
Should be admitted
161
Management of Whooping cough in infants more than 6 months
in the UK pertussis is a notifiable disease
An oral macrolide (e.g. clarithromycin, azithromycin or erythromycin) is indicated if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread
Household contacts should be offered antibiotic prophylaxis
162
School exclusion in Whooping cough
School exclusion: 48 hours after commencing antibiotics
163
Common cause of UTIs in children
Vesicoureteric reflux (VUR)
164
What antibiotic are given in Whooping cough?
An oral macrolide (e.g. clarithromycin, azithromycin or erythromycin) is indicated if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread
