Misc Paeds (capsule, passmed, etc) Flashcards
(179 cards)
1
Q
What is Epstein’s pearl?
A
- A congenital cyst found in the mouth.
- Common on the hard palate, but may also be seen on the gums where the parents may mistake it for an erupting tooth.
- No treatment is generally required as they tend to spontaneously resolve over the course of a few weeks.
2
Q
What is an antalgic gait?
A
3
Q
What is a Pavlik harness?
A
Used to treat Developmental dysplasia
- Pavlik harness = fabric splint
- Secures both of baby’s hips in a stable position and allows to normal development of hips.
4
Q
What are serum anti-Ro and anti-La antibodies used in the assessment of?
A
Support the diagnosis of Sjögren’s syndrome
Sjögren’s syndrome is commonly associated with dry eyes and mouth + ~ joint pain.
5
Q
Summarise transient synovitis
A
- Transient synovitis is sometimes referred to as irritable hip.
- It generally presents as acute hip pain following a recent viral infection.
- It is the commonest cause of hip pain in children.
- The typical age group is 3-8 years.
- Features
- limp/refusal to weight bear
- groin/hip pain
- a low-grade fever is present in a minority of patients
- high fever should raise the suspicion of other causes such as septic arthritis
- self-limiting, requiring only rest and analgesia.
6
Q
What must be excluded in a patient with hip pain and fever?
A
septic arthritis
7
Q
Summarise septic arthritis
A
it is an infection in the synovial fluid and joint tissue.
Kocher criteria can be used to distinguish transient synovitis and septic arthritis (fever, raised ESR/ WCC, and inability to weight bear).
8
Q
What chromosomal abnormality is seen in Turner’s syndrome?
What are some characteristic features?
A
- Turner’s = 45 XO
- Features
- lymphoedema in neonates (especially feet)
- multiple pigmented naevi
- short stature
- shield chest, widely spaced nipples
- webbed neck
- high-arched palate
- short 4th metacarpal
- Medical complications:
- bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
- primary amenorrhoea
- cystic hygroma (often diagnosed prenatally)
- elevated gonadotrophins
- hypothyroidism is much more common in Turner’s
- horseshoe kidney: the most common renal abnormality in Turner’s syndrome
- increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn’s disease
9
Q
What is the anti-TTG antibody test used to assess?
A
- useful to assess for coeliac disease
- in patients who consume gluten & are displaying symptoms of gluten intolerance
10
Q
What are serum IL-6 and matrix metalloproteinase-9 used to assess?
A
assessment of severe asthma patients
- are not used routinely in clinical practice for the assessment of the likelihood of developing asthma.
11
Q
What do all breech babies delivered at or after 36 weeks gestation require?
A
- USS for developmental dysplasia of the hip (DDH) screening
- at 6 weeks of age
- regardless of mode of delivery
12
Q
What are the RFs for developmental dysplasia of the hip (DDH)?
A
- female sex: 6 times greater risk
- breech presentation
- positive FHx
- firstborn children
- oligohydramnios
- birth weight > 5 kg
- congenital calcaneovalgus foot deformity
13
Q
Is developmental dysplasia of the hip more common in one hip than the other? How many cases are bilateral?
A
- DDH is slightly more common in the left hip.
- Around 20% of cases are bilateral.
14
Q
Which infants require routine screening for developmental dysplasia of the hip? What does this screening invovle?
A
Routine USS:
- first-degree FHx of hip problems in early life
- breech presentation at or after 36 weeks gestation,
- irrespective of presentation at birth or mode of delivery
- multiple pregnancy
Barlow and Ortolani tests:
- all infants are screened at
- newborn check + the six-week baby check
15
Q
What is involved in the clinical examination assessment of ?developmental dysplasia of the hip?
A
- Barlow test: attempts to dislocate an articulated femoral head
- Ortolani test: attempts to relocate a dislocated femoral head
- other important factors include:
- symmetry of leg length
- level of knees when hips and knees are bilaterally flexed
- restricted abduction of the hip in flexion
16
Q
What imaging is used to confirm the diagnosis of developmental dysplasia of the hip?
A
- US is generally used to confirm the diagnosis if clinically suspected
- however, if the infant is > 4.5 months, then x-ray is 1st line investigation
17
Q
What is the Mx of developmental dysplasia of the hip?
A
- most unstable hips will spontaneously stabilise by 3-6 weeks of age
- Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months
- older children may require surgery
18
Q
How is Prader-Willi syndrome inherited?q
A
Imprinting
where the phenotype depends on whether the deletion occurs on a gene inherited from the mother or father:
- Prader-Willi syndrome if gene on Chr15 deleted from father
- father’s copy of the gene is not present, and the mother’s copy of the gene is present but epigenetically silenced and therefore not expressed
- Angelman syndrome if same gene on Chr15 deleted from mother
19
Q
What are the features of Prader-Willi syndrome?
A
- hypotonia during infancy
- dysmorphic features
- short stature
- hypogonadism and infertility
- learning difficulties
- childhood obesity
- behavioural problems in adolescence
20
Q
Summarise Slipped upper femoral epiphysis
A
- Slipped upper femoral epiphysis is the commonest adolescent hip disorder.
- Occurs most commonly in obese males.
- May often present as knee pain which is usually referred from the ipsilateral hip.
- The knee itself is normal.
- The hip often limits internal rotation.
-
X-rays = displacement of the femoral epiphysis
- Degree of its displacement may be calculated using the Southwick angle.
- Tx = preventing further slippage which ~ → avascular necrosis of femoral head.
21
Q
What is Perthes disease?
A
A self-limiting disease of the femoral head comprising of:
- necrosis
- collapse
- repair
- remodelling,
that presents in the first decade of life
22
Q
Summarise Perthes disease’s:
- mode of presentation
- Tx
- X ray findings
A
2nd line Ix = MRI
23
Q
Summarise Slipped upper femoral epiphysis’s:
- mode of presentation
- Tx
- X ray findings
A
24
Q
Summarise Transposition of the great arteries (TGA)
A
form of cyanotic congenital heart disease. It is caused by the failure of the aorticopulmonary septum to spiral during septation. Children of diabetic mothers are at an increased risk of TGA.
Basic anatomical changes
- aorta leaves the right ventricle
- pulmonary trunk leaves the left ventricle
Clinical features
- cyanosis
- tachypnoea
- loud single S2
- prominent right ventricular impulse
- ‘egg-on-side’ appearance on chest x-ray
Management
- maintenance of the ductus arteriosus with prostaglandins
- surgical correction is the definite treatment.
25
How is transposition of the great arteries managed once ‘foetal aorta and pulmonary trunk lying in parallel with an absence of crossing’ is found on USS?
* Give prostaglandin E1 IV to neonate (post-delivery)
* maintains the ductus arteriosus, ensuring a route of alternate blood flow.
* maintain the patency of the ductus arteriosus through dilation of vascular smooth muscle
* Otherwise, parallel circulatory systems caused by TGA means that ductus arteriosus closure will result in profound cyanosis and circulatory failure.
26
What is adenosine given for?
convert supra-ventricular tachycardias to sinus rhythm
27
What is indomethacin used for?
NSAIDs, e.g. indomethacin: inhibit prostaglandin synthesis → closure of the ductus arteriosus
28
What is **Epispadias?**
urethral opening on the dorsal aspect of the penis
29
What is hypospadias?
**urethral meatus is located on the ventral aspect of the penile shaft**,
rather than the distal glans penis
30
What other condition do children with hypospadias also have?
**cryptorchidism**, ~ 10% of neonates with hypospadias also have cryptorchidism.
*This reflects an underlying defect in embryological urogenital migration thought to be associated with endocrine disturbances, such as low serum androgens, during pregnancy.*
31
What is **Obstructive uropathy with a patent urachus**
The urachus is an embryological passage between the bladder and umbilicus that closes at the end of the first trimester in normal development.
Urethral atresia or strictures may cause obstructive uropathy, often presenting as oligohydramnios in utero.
32
What are **Posterior urethral valves** associated with?
* associated with **increased susceptibility to UTIs**
* ~ be screened for via **USS** for children presenting with **atypical UTIs.**
33
What is Intussusception?
Commonly occurs at 3-12 months
Intussusception presents with:
* vomiting
* abdominal distention
* rectal bleeding (red currant jelly stools)
34
What is Necrotising enterocolitis?
Necrotising enterocolitis is one of the leading causes of death among premature infants.
Initial symptoms can include:
* feeding intolerance,
* abdominal distension
* bloody stools
which can quickly progress to:
* abdominal discolouration,
* abdo perforation
* peritonitis.
35
How is ?necrotising enterocolitis diagnosed?
**_AXR_**:
* **dilated bowel loops** (often asymmetrical in distribution)
* bowel wall **oedema**
* pneumatosis intestinalis (**intramural gas**)
* portal venous gas
* **pneumoperitoneum** resulting from perforation
* air both inside and outside of the bowel wall (**Rigler sign)**
* air outlining the falciform ligament (**football sign)**
36
What might an elevated bilirubin level in a neonate born via forceps (extensive facial bruising) be due to?
bruising
37
What are some causes of jaundice in the first 24hrs of birth?
* rhesus haemolytic disease
* ABO haemolytic disease
* hereditary spherocytosis
* glucose-6-phosphodehydrogenase
38
What might Jaundice in the neonate from 2-14 days be due to?
Jaundice in the neonate from **2-14 days is common (up to 40%)** and **usually physiological**.
It is due to a combination of factors, including:
* more red blood cells (due to foetal Hb being broken down)
* more fragile red blood cells
* less developed liver function.
It is **more commonly seen in breastfed babies**
39
What rate must chest compressions be given at in a child during BLS?
100-120 per minute
40
What is Kawasaki disease? Is it common? What is its main complication?
Kawasaki disease is a **type of vasculitis** which is **predominately seen in children.**
Kawasaki disease is **uncommon** it is important to recognise as it may cause potentially serious **complications, including coronary artery aneurysms.**
41
What are the features of Kawasaki disease?
* **high-grade fever which lasts for \> 5 days.**
* Fever is characteristically resistant to antipyretics
* **conjunctival injection**
* **bright red, cracked lips**
* **strawberry tongue**
* **cervical lymphadenopathy**
* **red palms and soles of feet**
* which later peel
42
What is the Mx of Kawasaki disease?
* High dose aspirin
* IV Ig
* echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms
43
When is the only indication for aspirin in children? Why is this usually contraindicated?
* **Kawasaki disease** is one of the few indications for the use of aspirin in children.
* Due to the risk of **Reye's syndrome** aspirin is normally contraindicated in children
44
What is Reye's syndrome
swelling in liver and brain
45
What is Cephalohaematoma?
swelling on the newborns head
46
Compare Cephalohaematoma and caput succendaneum
Caput Succedaneum
Crosses Sutures
CephalhaematoMONTH
Caput SucceDAYneum
47
At what age do the majority of children achieve day and night time urinary continence?
The majority of children achieve day and night time continence by 3 or 4 years of age.
48
What are the components of the APGAR score?
**Appearance** = colour,
**Pulse**
**Grimace** = reflex irritability.
**Activity** = muscle tone
**Respiration** = respiratory effort,
49
How is an APGAR score assessed?
50
What is Pierre-Robin syndrome?
Autosomal recessive!
* Micrognathia
* Posterior displacement of the tongue (may result in upper airway obstruction)
* Cleft palate
51
What is Treacher-Collins syndrome?
Autosomal dominant - but otherwise same as Pierre-Robin syndrome
* Micrognathia
* Posterior displacement of the tongue (may result in upper airway obstruction)
* Cleft palate
52
What is a Wilm's tumour?
AKA nephroblastoma
* one of the most common childhood malignancies
* typically presents in children under 5 yrs
* unilateral in most cases
* mets found in 20% of cases (most commonly lung)
Signs
* abdo mass (most common presenting feature)
* painless haematuria
* flank pain
* ~ anorexia
* ~fever
53
What is the Mx of a Wilm's tumour?
* arrange paediatric review within 48hrs
* nephrectomy, chemotherapy, radiotherapy (if advanced)
* Prognosis: good, 80% cure rate
54
How does Juvenile rheumatoid arthritis normally present?
* fever,
* rash
* symmetrical joint pain and swelling.
55
What are the features of an osteosarcoma?
* unexplained lump,
* unexplained bone pain
* unexplained swelling.
56
How does Osteochondritis present?
* joint pain,
* locking
* swelling.
57
How does croup normally present?
* stridor,
* barking cough,
* mild pyrexia
* coryzal symptoms
58
What is the drug given to children with possible croup?
dexamethasone
59
What are the Ix for croup?
* Clinical diagnosis
* however, if a chest x-ray is done:
* a posterior-anterior view will show subglottic narrowing, commonly called the 'steeple sign'
* in contrast, a lateral view in acute epiglottis will show swelling of the epiglottis - the 'thumb sign'
60
What should prompt hospital admission for croup?
CKS suggest admitting any child with **moderate or severe croup**. Other features which should prompt admission include:
* **\< 6 months of age**
* **known upper airway abnormalities** (e.g. Laryngomalacia, Down's syndrome)
* **uncertainty about diagnosis** (important differentials include acute epiglottitis, bacterial tracheitis, peritonsillar abscess and foreign body inhalation)
61
What is the Mx of croup?
Management
* CKS recommend giving a single dose of **oral dexamethasone** **(0.15mg/kg) to all children regardless of severity**
* **prednisolone** is an alternative if dexamethasone is not available
Emergency treatment
* high-flow **O2**
* nebulised **adrenaline**
62
Summarise gasteroenteritis in children
* main risk is **severe dehydration**
* most common cause is **rotavirus** -
* typically accompanied by **fever + vomiting for the first 2 days.** The **diarrhoea** may last up to a week
* treatment is **rehydration**
63
Summarise Hirschprung's disease
* presents soon after birth with:
* delayed passage of meconium (should pass in first 24 hrs of life)
* distended abdomen,
* bilious vomiting,
* lethargy
* dehydration
* Associated with Down's syndrome + males
* Ix: abdo xray, rectal biopsy (gold standard for diagnosis)
64
How does pyloric stenosis usually present?
* biilous projectile vomiting
* palpable epigastric mass on feeding
65
How does Intussusception normally present?
* between 3-12 months
* colicky abdominal pain and drawing up of the infant's legs.
* Blood in the stool is a late sign.
66
How does Duodenal atresia normally present?
* normally seen in antenatal screening
* presents with bilious vomiting hours after birth.
67
Between which ages do febrile convulsions usually occur?
6 months to 5 years
68
Summarise the epidemiology of Acute Lymphoblastic Leukaemia
* peak incidence of 2-5 years,
* affects slightly more boys than girls
* accounts for 80% of childhood leukaemias.
* It is the most common malignancy affecting children
* associated with some genetic disorders e.g. Down's syndrome
69
What is the Neonatal blood spot screening (previously called the Guthrie test or 'heel-prick test') used to screen for?
Sickle cell disease
70
When is the neonatal blood spot screening (previously called the Guthrie test or 'heel-prick test') usually performed?
performed at 5-9 days of life
71
Summarise Intussusception
* bowel folds in on itself, usually at the ileo-caecal region
* usually affects infants between 6-18 months old
* boys x2 more affected than girls
Features:
* **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
Ix:
* Abdo USS → sausage shaped mass
72
What is Laryngomalacia?
very common, benign cause of noisy breathing in infants
* caused by a congenital softening of the cartilage of the larynx, causing collapse during inspiration.
* Laryngomalacia can present at birth, and worsens in the first few weeks of life.
* It usually self-resolves before 2 years of age.
73
What are the features of Prader-Willi syndrome?
* Hypotonia
Hypogonadism
Obesity
74
What are the features of Williams' syndrome
* Short stature
* Learning difficulties
* Friendly, extrovert personality
* Transient neonatal hypercalcaemia
* Supravalvular aortic stenosis
75
What are the symptoms of Patau syndrome (trisomy 13)?
* Microcephalic, small eyes
* Cleft lip/palate
* Polydactyly
* Scalp lesions
76
What are the symptoms of Edwards' syndrome (trisomy 18)?
* Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
77
A 2-year-old boy is taken to his GP with a 1 day history of right-sided limp. His parents report him being otherwise fit and well apart from a recent cold and his nursery deny observing any physical trauma. On examination, he is afebrile and evidently in pain however has a normal range of movement in the right hip. What would be the most appropriate management at this stage?
* Watch and wait with strict safety netting
* urgent hospital assessment
* routine hospital referral
* self limiting condition, give simple analgesia
* simple analgesia + request bloods and X ray
**Urgent assessment should be arranged for a child \< 3 years presenting with an acute limp**
## Footnote
Nice Clinical Knowledge Summaries advise that all children with an acute limp \< 3 years of age should be urgently assessed in secondary care because they are at higher risk of septic arthritis and child maltreatment. They also add that: 'transient synovitis is rare in this age-group and the diagnosis should be made with extreme caution after excluding serious causes of limp. Urgent referral for assessment is advised because examination may be difficult and clinical signs subtle.'
78
What is scarlet fever?
* reaction to erythrogenic toxins produced by Group A haemolytic streptococci (usually *Streptococcus pyogenes*).
* It is more common in children aged 2 - 6 years
* resp tranmission
79
Can giving antipyretics stop the chance of further febrile convulsions?
Antipyretics do not prevent febrile convulsions
80
Which conditions have a contraindication to throat examinations?
* croup
* acute epiglottitis
* due to risk of airway obstruction (examination could cause laryngospasm)
81
What are the causes of jaundice in the first 24hrs of life?
Causes of jaundice in the first 24 hrs
* rhesus haemolytic disease
* ABO haemolytic disease
* hereditary spherocytosis
* glucose-6-phosphodehydrogenase
82
What are the causes of jaundice in the first 2-14 days?
* Jaundice in the neonate from 2-14 days is **common** (up to 40%)
* **usually** **physiological**.
* It is due to a combination of factors, including:
* **more red blood cells,**
* **more fragile red blood cells**
* **less developed liver function.**
83
What are the causes of prolonged jaundice? (after 14 days of life)
**_Hepatic_**
* **prematurity**
* *due to immature liver function*
* *increased risk of kernicterus*
* **congenital infections e.g. CMV, toxoplasmosis**
* → hepatomegaly
* **hypothyroidism**
* *glucuronide conjugation of bilirubin is delayed in babies with hypothyroidism*
**_Post-heptic_**
* **biliary atresia**
**_Other_**
* **breast milk jaundice**
* *jaundice is more common in breastfed babies*
* *mechanism is not fully understood but thought to be due to high concentrations of beta-glucuronidase → increase in intestinal absorption of unconjugated bilirubin*
* **UTI**
* **galactosaemia**
* *Classic galactosemia results from mutations in galactose-1-phosphate uridyl transferase gene + causes infants to present with jaundice after initiation of lactose containing formulas.*
84
What tests should be done in prolonged jaundice?
* **_Bloods_**:
* **FBC and blood film**
* **conjugated and unconjugated bilirubin**: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention
* **TFTs**
* **U&Es and LFTs**
* **_direct antiglobulin test (Coombs' test)_**
* **_Urine_**:
* **MC&S**
* **reducing sugars** - negative dipstick glucose assay and a positive reducing test suggest that some substance other than glucose is present in the urine.These sugars include galactose, lactose, and fructose.
85
Summarise school exclusion for common childhood infections
86
A 15-month-old child is brought into the emergency department after feeling generally unwell and being off food. The child's mother informs you that he has also been bleeding from his back passage. There are no reports of nausea or vomiting. On examination, you note that the patient is tender in the right lower quadrant and appears in evident distress. There were no masses felt in the abdomen on palpation. His heart rate is 170 beats per minute, respiratory rate is 32 breaths per minute, blood pressure is 68/37 mmHg and temperature is 36.2 ºC. His medical records show no known medical conditions and regular medications.
What is the most likely diagnosis?
Meckels diverticulum
87
Summarise Intussusception
Intussusception occurs most often between the ages of 3 and 12 months, with a peak age of approx 9 months.
The majority of the cases are idiopathic, but in around 25% of cases, an underlying pathological cause can be identified.
It usually presents with paroxysmal abdominal colic pain, hence a severe bout of pain affecting the abdomen.
The parent will report their child as having a sudden onset of inconsolable crying episodes.
Pallor can be observed and in an attempt to alleviate the pain the child may draw up their knees to their chest.
88
Summarise. Peutz-Jeghers syndrome
Peutz-Jeghers syndrome is a rare autosomal dominant disorder that is characterised by hamartomatous polyposis.
Gastrointestinal symptoms first start becoming apparent at around 10 years of age.
89
Summarise Cecal volvulus
Cecal volvulus often presents with **sudden onset colicky lower abdominal** pain but it typically also presents with **abdominal distension** and **a failure to pass either flatus or stool.**
90
Summarise Meckel's diverticulum
Meckel's diverticulum is a congenital diverticulum of the small intestine. It is a remnant of the omphalomesenteric duct (also called the vitellointestinal duct) and contains ectopic ileal, gastric or pancreatic mucosa
Rule of 2s
* occurs in 2% of the population
* is 2 feet from the ileocaecal valve
* is 2 inches long
Presentation (usually asymptomatic)
* abdominal pain mimicking appendicitis
* rectal bleeding
* Meckel's diverticulum is the most common cause of painless massive GI bleeding requiring a transfusion in children between the ages of 1 and 2 years
* intestinal obstruction
* secondary to an omphalomesenteric band (most commonly), volvulus and intussusception
Management
* removal if narrow neck or symptomatic. Options are between wedge excision or formal small bowel resection and anastomosis.
Pathophysiology
* normally, in the foetus, there is an attachment between the vitellointestinal duct and the yolk sac. This disappears at 6 weeks gestation
* the tip is free in the majority of cases
* associated with enterocystomas, umbilical sinuses, and omphaloileal fistulas.
* arterial supply: omphalomesenteric artery.
* typically lined by ileal mucosa but ectopic gastric mucosa can occur, with the risk of peptic ulceration. Pancreatic and jejunal mucosa can also occur.
91
What are the major RFs of SID?
* prone sleeping
* parental smoking
* bed sharing
* hyperthermia and head covering
* prematurity
92
A 6-month-old girl is brought to the paediatric emergency department due to a 3-day history of vomiting and fever. She is usually fit and well, other than a successfully treated urinary tract infection 2 months previously.
General examination is unremarkable, though the patient's urine dipstick is positive for nitrites, leukocytes, and blood. Abdominal ultrasound excludes a posterior urethral valve, though the sonography report describes retrograde flow of urine into the ureters from the bladder.
Given the likely diagnosis, what is the most appropriate first-line investigation?
Micturating cystography (MCUG) is the investigation of choice for reflux nephropathy
Patients are catheterised and radio-opaque dye is injected into the bladder. The patient then voids the contents of their bladder and x-rays are taken. Reflux of the dye into the ureters confirms the diagnosis of vesicoureteric reflux and reflux nephropathy.
93
Summarise Vesicoureteric reflux
Vesicoureteric reflux (VUR) is the 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), being found in around 30% of children who present with a UTI. As around 35% of children develop renal scarring it is important to investigate for VUR in children following a UTI
Pathophysiology of VUR
* ureters are displaced laterally, entering the bladder in a more perpendicular fashion than at an angle
* therefore shortened intramural course of the ureter
* vesicoureteric junction cannot, therefore, function adequately
Possible presentations
* antenatal period: hydronephrosis on ultrasound
* recurrent childhood urinary tract infections
* reflux nephropathy
* term used to describe chronic pyelonephritis secondary to VUR
* commonest cause of chronic pyelonephritis
* renal scar may produce increased quantities of renin causing hypertension
Investigation
* VUR is normally diagnosed following a micturating cystourethrogram
* a DMSA scan may also be performed to look for renal scarring
94
At what age is hypospadias surgery performed?
Hypospadias surgery is typically performed at around 12 months of age
95
What is the Mx of hyposadias?
* once hypospadias has been identified, infants should be referred to specialist services
* corrective surgery is typically performed when the child is around 12 months of age
* it is essential that the child is not circumcised prior to the surgery as the foreskin may be used in the corrective procedure
* in boys with very distal disease, no treatment may be needed.
96
Name some causes of neck masses in children
* thyroglossal cyst
* branchial cyst
* dermoids
* thyroid gland lesion
* Lymphatic malformations
* Infantile haemangioma
* Lymphadenopathy
97
Summarise thyroglossal cyst
* Located in the anterior triangle, usually in the midline and below the hyoid (65% cases)
* Derived from remnants of the thyroglossal duct
* Thin walled and anechoic on USS (echogenicity suggests infection of cyst)
98
Summarise branchial cyst
* Six branchial arches separated by branchial clefts
* Incomplete obliteration of the branchial apparatus may result in cysts, sinuses or fistulae
* 75% of branchial cysts originate from the second branchial cleft
* Usually located anterior to the sternocleidomastoid near the angle of the mandible
* Unless infected the fluid of the cyst has a similar consistency to water and is anechoic on USS
99
Summarise dermoids
* Derived from pleuripotent stem cells and are located in the midline
* Most commonly in a suprahyoid location
* They have heterogeneous appearances on imaging and contain variable amounts of calcium and fat
100
Summarise **Lymphatic malformations**
* Usually located posterior to the sternocleidomastoid
* Cystic hygroma result from occlusion of lymphatic channels
* The painless, fluid filled, lesions usually present prior to the age of 2
* They are often closely linked to surrounding structures and surgical removal is difficult
* They are typically hypoechoic on USS
101
Summarise infantile haemangiomas
* May present in either triangle of the neck
* Grow rapidly initially and then will often spontaneously regress
* Plain x-rays will show a mass lesion, usually containing calcified phleboliths
* As involution occurs the fat content of the lesions increases
102
Summarise lymphadenopathy
* Located in either triangle of the neck
* May be reactive or neoplastic
* Generalised lymphadenopathy usually secondary to infection in children (very common)
103
Describe the triangles of the neck
104
Summarise 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.
Threadworm infestation is asymptomatic in around 90% of cases, possible features include:
* perianal itching, particularly at night
* girls may have vulval symptoms
Diagnosis may be made by the applying Sellotape to the perianal area and sending it to the laboratory for microscopy to see the eggs. However, most patients are treated empirically and this approach is supported in the CKS guidelines.
Management
* CKS recommend a combination of anthelmintic with hygiene measures for all members of the household
* **mebendazole** is used first-line for children \> 6 months old. A single dose is given unless infestation persists
105
What increases the risk of Haemorrhagic disease of the newborn
* **Breast-fed** babies are particularly at risk as breast milk is a poor source of vitamin K.
* **Maternal use of antiepileptics** also increases the risk
106
A 7-year-old boy attends the GP surgery with abdominal pain for 4 days. He is eating and drinking normally, has no urinary symptoms and no change in bowel habit. He had experienced some cold symptoms 1 week ago, but these have subsided. Aside from this episode, he is generally a well and happy child.
On examination, the abdomen is soft but mildly tender throughout. Temperature is 37.7 degrees. His chest is clear and heart sounds are normal.
What is the most likely cause of this boy's abdominal pain?
mesenteric adenitis
describes inflamed mesenteric lymph nodes. It is often preceeded by a viral infection. It is self limiting
107
A 7-year-old boy attends the GP surgery with abdominal pain for 4 days. He is eating and drinking normally, has no urinary symptoms and no change in bowel habit. He had experienced some cold symptoms 1 week ago, but these have subsided. Aside from this episode, he is generally a well and happy child.
On examination, the abdomen is soft but mildly tender throughout. Temperature is 37.7 degrees. His chest is clear and heart sounds are normal.
What is the most likely cause of this boy's abdominal pain?
mesenteric adenitis
describes inflamed mesenteric lymph nodes. It is often preceeded by a viral infection. It is self limiting
108
Summarise septic arthritis
it is an infection in the synovial fluid and joint tissue.
Kocher criteria can be used to distinguish transient synovitis and septic arthritis (**fever, raised ESR/ WCC, and inability to weight bear**).
109
Summarise septic arthritis
it is an infection in the synovial fluid and joint tissue.
Kocher criteria can be used to distinguish transient synovitis and septic arthritis (**fever, raised ESR/ WCC, and inability to weight bear**).
110
Summarise septic arthritis
it is an infection in the synovial fluid and joint tissue.
Kocher criteria can be used to distinguish transient synovitis and septic arthritis (**fever, raised ESR/ WCC, and inability to weight bear**).
111
Summarise septic arthritis
it is an infection in the synovial fluid and joint tissue.
Kocher criteria can be used to distinguish transient synovitis and septic arthritis (**fever, raised ESR/ WCC, and inability to weight bear**).
112
Summarise the Tx of UTI in children
* **infants \< 3 months old** should be referred immediately to a paediatrician
* **children aged \> 3 months** **old** with an upper UTI should be considered for admission to hospital. If not admitted oral antibiotics such as cephalosporin or co-amoxiclav should be given for 7-10 days
* **children aged \> 3 months old** with a lower UTI should be treated with oral antibiotics for 3 days according to local guidelines, usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin. Parents should be asked to bring the children back if they remain unwell after 24-48 hours
* antibiotic prophylaxis is not given after the first UTI but should be considered with recurrent UTIs
113
Summarise hydrops fetalis
**Hydrops fetalis** is a serious condition in which abnormal amounts of fluid build up in two or more body areas of a fetus or newborn.
There are two types of hydrops fetalis: immune and nonimmune. Immune hydrops fetalis is a complication of a severe form of [Rh incompatibility](http://www.nlm.nih.gov/medlineplus/ency/article/001600.htm).
Rh compatibility causes massive red blood cell destruction, which leads to several problems, including total body swelling.
Severe swelling can interfere with how the body organs work.
Nonimmune hydrops fetalis occurs when a disease or medical condition disrupts the body's ability to manage fluid.
**There are three main causes for this type:**
1. heart or lung problems
2. severe anemia ([thalassemia](http://www.nlm.nih.gov/medlineplus/ency/article/000587.htm)),
3. genetic defects, including [Turner syndrome](http://www.nlm.nih.gov/medlineplus/ency/article/000379.htm)
114
Which organisms cause:
* croup
* bronchiolitis
* pseudomonas
* whooping cough
* Parainfluenza virus : Croup
RSV : Bronchiolitis
*Pseudomonas aeruginosa* : pseudomonas
*Streptococcus pneumoniae* : Pneumonia
*Bordetella pertussis* : Whooping cough
115
Summarise achondroplasia
Achondroplasia is an autosomal dominant disorder associated with short stature. Heterozygous achondroplasia is incompatible with life.
It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene.
This results in abnormal cartilage giving rise to:
* short limbs (rhizomelia) with shortened fingers (brachydactyly)
* large head with frontal bossing and narrow foramen magnum
* midface hypoplasia with a flattened nasal bridge
* 'trident' hands
* lumbar lordosis
In most cases (approximately 70%) it occurs as a sporadic mutation. The main risk factor is advancing parental age at the time of conception. Once present it is typically inherited in an autosomal dominant fashion.
116
Summarise meconium ileus
* Usually delayed passage of meconium and abdominal distension
* The majority have cystic fibrosis
* X-Rays will not show a fluid level as the meconium is viscid, PR contrast studies may dislodge meconium plugs and be therapeutic
* Infants who do not respond to PR contrast and NG N-acetyl cysteine will require surgery to remove the plugs
117
Summarise Fragile X syndrome
Fragile X syndrome is an **X-linked dominant** trinucleotide repeat disorder.
It is the **most common X-linked cause of learning difficulties**.
It can lead to a range of complications including: **mitral valve prolapse, pes planus, autism, memory problems and speech disorders.**
118
You are called to see a 2 day-old neonate who was born 1 week premature following a premature rupture of membranes. He has failed to pass meconium in the first 24 hours and has begun vomiting. You witness one episode of vomiting during the examination which is stained green, which you suspect is bile. On examination he is irritable with an obvious distension of the abdomen but is apyrexial with normal oxygen saturations. Palpation of the abdomen causes further irritation but you are unable to feel any discrete mass. What is the most likely underlying condition?
CF
## Footnote
This history is suggestive of a meconium ileus, a small bowel obstruction caused by thickened meconium which is secondary to cystic fibrosis. This typically presents with the neonate not passing meconium with a distended abdomen. Vomiting may be bilious, which is in contrast to pyloric stenosis which does not contain bile. There is also no mass suggestive of intussusception or pyloric stenosis.
119
What are the presenting features of CF?
* neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice
* recurrent chest infections (40%)
* malabsorption (30%): steatorrhoea, failure to thrive
* other features (10%): liver disease
Other features:
* short stature
* diabetes mellitus
* delayed puberty
* rectal prolapse (due to bulky stools)
* nasal polyps
* male infertility, female subfertility
120
If a baby patient with ?meningitis has no neck stiffness or photophobia or rash, can they be discharged?
No, can be atypical presentation in younger children and babies, who present. with non-specific symptoms
121
Under what age should a temperature (fever) always be investigated?
\<3 months
122
What are some common causative organisms of meningitis in neonates?
Gp B Strep, E Coli, Listeria, Pneumococcus, Staph aureus.
123
What are some common causative organisms of meningitis in neonates?
Gp B Strep, E Coli, Listeria, Pneumococcus, Staph aureus.
124
What are some common causative organisms of meningitis in babies 1 month+ and children, ?
In babies 1 month+ and children, causes include:
* Meningococcus,
* Pneumococcus
* Haemophilus influenzae B *(Haemophilus was previously more common until it was included in the childhood vaccination programme; it now much less commonly seen).*
125
What is the most common cause of meningitis in children?
Neisseria meningitides is the most common cause of meningitis in children.
126
What are the DDx?
* bacterial tracheitis
* croup
* foreign body inhalation
127
Which diagnosis is suggested by:
* Sudden onset of symptoms
* high fever,
* absence of a barking cough,
* dysphagia and drooling,
* anxious appearance
* sitting forward in the ‘sniffing position’
epiglottitis
128
Which diagnosis is suggested by:
* Sudden onset of symptoms
* high fever,
* absence of a barking cough,
* dysphagia and drooling,
* anxious appearance
* sitting forward in the ‘sniffing position’
epiglottitis
129
What should be asked in the Hx?
* Maternal illness
* No of wet nappies a day
* Waking for feeds
130
You are concerned that the baby has an infection. Which three investigations would you do immediately?
* Bloods: FBC, U&Es, CRP, blood culture
* Urine dip + culture
* Lumbar puncture
131
The test results come back showing a high WCC and high CRP. The CSF shows – RCC 7, WCC 136, protein 1700, glucose 1.2. Blood Cultures and CSF have a positive bacterial growth. What is the most likely organism?
In a **newborn** baby **Group B streptococcus** is the most likely pathogen.
132
What is the most likely diagnosis?
Bronchiolitis
*hyperinflation of the lungs can cause downwards displacement of liver*
133
What are the most common causes of bronchiolitis?
Bronchiolitis is a viral infection of the respiratory tract commonly ( 50-90%) caused by respira**tory syncytial virus (RSV).**
Other causes are **influenza, para influenza, adenovirus rhinovirus and swine flu (H1N1).**
134
What Tx should be started?
* nebulised 3% saline
* NG feeds
* O2
Nebulised hypertonic saline may modestly reduce length of stay among infants hospitalised with acute bronchiolitis and improve clinical severity score. Treatment with nebulised hypertonic saline may also reduce the risk of hospitalisation among outpatients and emergency department patients. Humidified oxygen should be used to maintain saturations above 92%. Patients with dehydration on presentation, increasing respiratory distress or inability to feed require naso/orogastric or iv fluids. Syndrome of Inappropriate ADH secretion has been described in bronchiolitis, and if IV fluids are required, restrict to two thirds of usual maintenance. There is no evidence that physiotherapy, steroids or theophylline is effective in the management of bronchiolitis.
135
What is juvenile idiopathic arthritis?
* can be **Oligoarticular** or **pauciarticular**
* defined as:
* **affecting up to 4 joints**
* arthritis occurring in someone who is **\<16 yo**
* that lasts for **\>6 weeks**
* Typically this involves larger joints such as the knee, ankle or elbows.
* Common symptoms include:
* pain or stiffness in the affected joints
* fatigue.
* Associated symptoms may include:
* rash,
* fever,
* dry or gritty eyes.
* Features of pauciarticular JIA:
* joint pain and swelling: usually medium sized joints e.g. knees, ankles, elbows
* limp
* ANA may be positive in JIA - associated with anterior uveitis
136
Name some causes of microcephaly
* normal variation e.g. small child with small head
* familial e.g. parents with small head
* congenital infection
* perinatal brain injury e.g. hypoxic ischaemic encephalopathy
* fetal alcohol syndrome
* syndromes: Patau
* craniosynostosis
137
What is high serum lactate indicative of?
* sepsis
* septic shock
* high level of exercise
138
What are the 2 groups of classification of pre-school wheeze?
* **episodic viral wheeze**: only wheezes when has a viral upper respiratory tract infection (URTI) and is symptom free inbetween episodes
* **multiple trigger wheeze**: as well as viral URTIs, other factors appear to trigger the wheeze such as exercise, allergens and cigarette smoke
139
Which of the 2 types of pre-school wheeze is associated with increased risk of asthma?
* Episodic viral wheeze is not associated with increased risk of asthma in later life
* a proportion of children with **multiple trigger wheeze** will develop asthma.
140
What is the Tx of episodic viral wheeze?
* Tx is **symptomatic only**
* 1st-line is Tx with short acting beta 2 agonists (e.g. salbutamol) or anticholinergic via a spacer
* next step is intermittent leukotriene receptor antagonist (montelukast), intermittent inhaled corticosteroids, or both
* *there is now thought to be little role for oral prednisolone in children who do not require hospital treatment*
141
What is the Tx of multiple trigger wheeze?
* trial of either inhaled corticosteroids or a leukotriene receptor antagonist (montelukast)
* typically for 4-8 weeks
142
What is the protocol for newborn resus?
* 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
\*Inflation breaths are different from ventilation breaths. The aim is to sustain pressure to open the lungs.
143
What is the protocol for newborn resus?
* 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
\*Inflation breaths are different from ventilation breaths. The aim is to sustain pressure to open the lungs.
144
Give some examples of mitochondrial disease?
* Leber's optic atrophy
* MELAS syndrome: mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
* MERRF syndrome: myoclonus epilepsy with ragged-red fibres
* Kearns-Sayre syndrome: onset in patients \< 20 years old, external ophthalmoplegia, retinitis pigmentosa. Ptosis may be seen
* sensorineural hearing loss
145
What are the characteristics of mitochondrial inheritance?
* inheritance is only via the maternal line as the sperm contributes no cytoplasm to the zygote
* none of the children of an affected male will inherit the disease
* all of the children of an affected female will inherit the disease
* generally, encode rare neurological diseases
* poor genotype:phenotype correlation - within a tissue or cell there can be different mitochondrial populations - this is known as heteroplasmy
146
What is seen on muscle biopsy in mitochondrial diseases?
muscle biopsy classically shows '**red, ragged fibres**' **due to increased number of mitochondria**
147
What acid-base disturbance would be caused by:
* vomiting
* diarrhoea
* metabolic alkalosis
* metabolic acidosis
148
What is Bartter syndrome?
* **Bartter syndrome** is an **inherited cause of hypokalaemia**,
* due to **defective chloride absorption at the Na+ K+ 2Cl- cotransporter** (NKCC2) in the **ascending loop of Henle**.
* It usually presents with **failure to thrive and/or polyuria and polydipsia**
149
Which organism is the most common cause of lobar pneumonia?
strep pneumoniae
150
Which Abx is indicated for lobar pneumonia in penicillin allergy?
IV clarithromycin
151
Which Abx should be avoided for lobar pneumonia in penicillin allergy?
* **Benzylpenicillin**
* **Co-amoxiclav** (containing amoxicillin)
* **Cefuroxime** (people with penicillin allergy can cross-react to cephalosporin)
152
Which type of bacteria is Ciprofloxacin particularly active against?
**Ciprofloxacin** is particularly active against **gram negative bacteria**
*only moderate activity against strep pneumoniae therefore should not be used for a presumed pneumococcal pneumonia.*
153
What else should be prescribed alongside an Abx?
* paracetamol
* Salbutamol inhaler
154
What type of drug is Metaclopramide?
antiemetic
*has significant EPSEs*
155
What is the most likely diagnosis?
**asthma**
*The absence of other serious chest diseases of childhood is suggested by the normal growth and normal clinical findings.*
156
What is the 1st line Tx?
**salbutamol** inhaler plus spacer or dry powder device
157
You prescribed inhaled salbutamol as above and advised Ryan to return to your clinic in 2 months. At the time of this follow-up, Tessa says that, although Ryan responds well to the salbutamol and enjoys his football, he still feels tight quite often and needs the salbutamol several times during the day. What is the most appropriate next step?
**Prescribe regular inhaled steroids and continue salbutamol** according to need as before. If salbutamol alone has not controlled the symptoms, add a low dose of inhaled steroids.
## Footnote
*There is no need for a chest X-ray if he has responded well to salbutamol and if growth and clinical examination is normal.*
158
What is beclamethasone?
SABA
159
What is salmeterol?
LABA
160
What is montelukast?
leukotriene receptor antagonist
161
What is montelukast?
leukotriene receptor antagonist
162
What is sodium cromoglycate?
**antihistamine** - e.g. used in allergies
163
Ryan has shown good response to regular inhaled beclomethasone 100micrograms twice daily. Two years later, Ryan is getting more frequently ‘chesty’ once again.
What should be done next?
* check concordance
* check inhaler technique
* add montelukast
164
On a recent visit to his grandmother - who has two cats in her house - Ryan feels very tight in his chest and is rushed to hospital. At the ED, he is noted to be very wheezy.
Which management options are likely to be employed in the ED?
* check O2 levels
* administer 10 puffs of inhaled salbutamol via large volume spacer
* single oral dose of prednisolone/dexamethasone
*IV aminophylline is only given when there is no response*
165
If Ryan’s asthma is poorly controlled in subsequent years, which changes to his medication should be considered?
* stop montelukast and add salmeterol
166
Can hypertrophied mucosal tissue affect asthma? How can these be treated?
YES
antihistamines, nasal steroids or surgery and improve overall asthma control.
167
What are the DDx that should be considered?
* CF
* Bronchiectasis
* Viral induced wheeze
168
On examination he is alert, comfortable and apyrexial. His oxygen saturation is 97% in air and his weight and height are below the 5th centile. The rest of the examination is normal apart from a mild expiratory wheeze.
What investigation would be the next immediate test of choice?
* CXR
169
As the differential diagnosis includes cystic fibrosis (CF), a “sweat test” is performed and this is abnormal.
What is the implication of an abnormal sweat test?
* Supportive of the diagnosis of CF
* Abnormal chloride value
*The diagnosis of cystic fibrosis is usually based not on a single sign or test, but rather on a triad of:*
* *Typical pulmonary and/or gastrointestinal tract manifestations*
* *A family history*
* *A positive result on ‘sweat-test’ (based on Cl-ion concentration)*
* The ‘pilocarpine-iontophoresis sweat-test’ involves pharmacological stimulation of sweating with pilocarpine; the amount of sweat is measured and its Cl concentration is determined.*
* In patients with a suggestive clinical picture or a positive family history, a Cl concentration \> 60 mmol/L confirms the diagnosis.*
* In infants, a Cl concentration \> 30 mmol/L is highly suggestive of CF.*
* A minimum sweat-weight of 100 micrograms is also required.*
170
Which organisms are characteristically isolated from the sputum of patients with cystic fibrosis?
* Staph aureus
* Klebsiella pneumoniae
* Pseudomonas aeriginosa
* Burkholdera ceperia
It is an airway colonization process and not a pneumonic one, hence streptococcus pneumoniae is not implicated
171
Are blood cultures and sputum cultures helpful in CF? If not, what. must be obtained instead?
* In spite of the large number of organisms present in the airways and sputum, **CF patients rarely become septic and blood cultures are not helpful**
* **Deep-throat microbiological cultures**
172
In older patients with CF (Figure 1), which chronic pulmonary manifestations may be seen?
* hyperinflation
* bronchiectasis
* lobar atelectasis
* large hila
173
What is atelectasis?
complete or partial collapse of the entire lung or lobe of the lung
174
What are the causes of hilar englargement on CXR?
* **vascular**
* HF
* pulmonary HTN
* etc
* **lymph nodes**
* infection e.g. TB
* sarcoidosis
* amyloidosis
* malignancy
* Idiopathic pulmonary fibrosis
* etc
175
What are the CXR changes seen as CF progresses?
* CXRs may **initially be normal**
* over time they typically show **bronchial wall thickening** and **bronchiectasis**.
* Progressive **air-trapping** with **bronchiectasis** may be initially apparent in the upper lobes but may progress to all zones.
* With advancing pulmonary disease there may be:
* **pulmonary nodules** resulting from **abscesses** and **atelectasis**
* **marked hyperinflation** with **flattened domes** of the **diaphragm**.
* Pulmonary artery dilatation and right ventricular hypertrophy associated with cor-pulmonale is usually masked by the hyperinflation.
176
Which other organ systems are affected in CF apart from resp?
* **Pancreatic**: pancreatic insufficiency; recurrent pancreatitis, diabetes mellitus
* **Hepatic**: chronic hepatic disease/cirrhosis
* **Intestinal**: meconium ileus, rectal prolapse
* **Nutritional**: failure to thrive, hypoproteinaemia
* **Male urogenital abnormalities**, resulting in obstructive azoospermia
177
What is the genetic mutation implicated in CF?
* The CF mutation has been localized to chromosome 7, band q31.
* This locus codes for a transport protein named the cystic fibrosis trans-membrane conductance regulator (CFTR).
* The caucasian-associated ‘delta-F508’ defect is the most common CFTR mutation (800 mutations exist).
* The CFTR protein functions as a chloride channel.
178
Which Tx can reduce the viscosity of mucous in CF?
**nebulized rhDNase (Pulmozyme)**
## Footnote
by aiding removal of excessive DNA from inflammatory cells destroyed in airways.
179
What is the life expectancy of a newly diagnosed CF patient?
50-55 yrs
