CAH- Common presentations Flashcards
1
Q
DDx of impalpable testes
A
- Undescended
- Ectopic
- Atrophy
2
Q
Clinical features of UDT
A
- Impalpable in 20% cases
- 80% palpable in intra-inguinal canal or intra-abdominally
- Often noticed by fathers i.e. when changing nappies
3
Q
Complications of UDT
A
- Infertility
- Cancer - only one not altered with Rx
- Inguinal hernia
- Torsion
4
Q
Rx of UDT
A
Orchidoplexy
- After 6 months of age
- Pull inferiorly and fixed
5
Q
Presentation of DDH
A
- Dislocation at birth
- Hip instability at birth or at 6-weeks or after
6
Q
Clinical features of DDH
A
- Leg length discrepancy
- Barlow & ortolani tests positive
- Assymetrical creases (groin, bum)
- Limited or assymetrical hip abduction in older infants
7
Q
Risk factors of DDH
A
- Female
- Breech
- Intrauterine packaging disorders (multiple, 1st, large baby)
- Increased amniotic fluid
8
Q
Complications of DDH
A
- Abnormal hip shape - altered gait mechanism (pain) - early onset OA
9
Q
Rx of DDH
A
- Bracing before 6 weeks
- After 3 months if reducible - hip spica (cast) or surgical reduction
- After walking age - open surgical reduction + osteotomy (shave bone)
10
Q
What are the DDx for a child with stridor and noisy breathing?
A
- Croup
- Epiglottitis
- Bacterial tracheitis
- Inhaled foreign body
11
Q
What is the epidemiology of pyloric stenosis?
A
- Typically presents from 3-6wo
- More common in boys
- May have FHx
12
Q
What history features suggest pyloric stenosis?
A
- Non-bilious vomiting, progressive, projectile
- Every feed, but child still wants to feed
- Decreased stooling
- Loss of weight
13
Q
What examination features suggest pyloric stenosis?
A
- Visible peristalsis
- Dehydrated, scrawny infant
- Palpable olive
14
Q
What metabolic derangement occurs in pyloric stenosis?
A
- Hypochloraemic, hypokalaemic metabolic alkalosis
- Paradoxical aciduria
15
Q
What is the initial management of post-streptococcal GN?
A
Frusemide, low salt diet and fluid restriction; with UEC monitoring
16
Q
What features are typical of irritable hip? How is it investigated and managed?
A
- 3-8yo, no trauma, history of viral URTI
- Otherwise well
- Ix = US
- Mx = rest and analgesia
17
Q
What features are typical of Perthes disease? How is it investigated and managed?
A
- 2-12yo (but typically 4-8yo), more common in males, 1 week history of pain and limp
- Restricted ROM
- Ix = x-ray
- Mx = may include rest, regaining motion or surgery
18
Q
What features are typical of SUFE? How is it investigated and managed?
A
- 10-12yo in girls, 12-14yo in boys
- ER and shortened hip with limited ROM (esp. IR)
- Ix = x-ray
- Mx = surgery
19
Q
What are the DDx of anorexia nervosa?
A
- Psychiatric: major depression, substance abuse
- Non-psychiatric: thyrotoxicosis, malabsorption, chronic infection, malignancy
20
Q
What are the principles of the primary survey for burns management?
A
- Airway + C-spine control
- Breathing + supplemental O2
- Circulation + haemorrhage
- Disability
- Environmental control + exposure
21
Q
What is the appearance of a superficial burn?
A
- Dry
- Minor blisters
- Erythema
- Brisk capillary return
22
Q
What is the appearance of a superficial dermal burn?
A
- Moist
- Reddened with broken blisters
- Brisk capillary return
23
Q
What is the appearance of a deep dermal burn?
A
- Moist, white slough
- Red mottle
- Sluggish capillary return
24
Q
What is the appearance of a full thickness burn?
A
- Dry
- Charrish white
- Absent capillary return
25
What are the principles of management of obesity?
- Empathise
- Evaluate: body composition, metabolic complications and FHx
- Educate and empower: diet and exercise goals at an aesthetic level, with the aim on long-term change
- If fails: VLED, metformin, surgery
26
What are the key components in taking an asthma history
1. Current symptom characterisation
2. Pattern and associations/relationships of symptoms
3. Assessment of triggers
4. What happens during an acute attack?
5. Assessment of home environment
6. Other allergies
7. FHx of asthma, allergies, eczema
8. Past asthma diagnosis and management
9. Assessment of severity - i.e. previous admissions
10. Smoking history in adolescence
27
What are signs of mild/moderate asthma?
Can talk
Can walk/crawl
Alert
Normal RR, HR, Sats
Mild increased WOB, wheeze
28
Management of mild/moderate acute asthma
Salbutamol via spacer
- 6 puffs if 6 yrs
- Can do this every 20 minutes x 3
- If not responsive - oral prednisolone
Ensure correct technique
Monitor for clinical improvement for 1 hour
Provide b2 agonist and discharge if adequate response
29
Signs and symptoms of severe acute asthma
- Accessory muscle use, chest recession, tracheal tug
- Cyanosis
- Difficulty speaking
- Lethargic, agitated - confused, drowsy
- Sats 90 - 94%
- Wheeze
30
Management of severe acute asthma
- Salbutamol in nebuliser 'bolus'
- Ipratropium bromide (every 20 mins in first hour)
- Corticosteroids within 1st hour
- Can give magnisum sulphate IV and aminophylline if deteriorating
- Monitor frequently to assess if severity status changes
31
Signs and symptoms of life-threatening asthma
- Silent chest - reduced air entry, no wheeze
- Exhaustion
- drowsy/confused
- Marked tachycardia
- Severe resp distress or poor resp effort
- Cyanotic
- Bradypnoea
- Sats
32
Management of severe acute asthma
- Continuous salbutamol nebulisers with O2
- Contact ICU immediately
- Ipratropium bromide
- Corticosteroids IV
- Magnesium sulphate IV
- May need non-invasive or invasive ventilation
33
What Ix required during acute asthma attack?
None!
ABG can cause further distress
CXR and spirometry not indicated
34
What is the peak incidence of testicular torsion?
Babies
| > 13 yo
35
What are the clinical features of testicular torsion?
Sudden onset, severe of testicular or abdominal pain
Nausea + vomiting
May have precedent hx of intermittent pain
Scrotum may appear high riding or discoloured
36
What are the clinical features of mild head injury?
```
- Minor head laceration
+/-
- brief LOC
- 1 – 2 vomits
- Concussion
```
37
What are the clinical features of moderate head injury?
- Definite LOC +/- decreased consciousness but GSC > 13
- Definite concussion
- Normal pupils
- +/- vomiting
- No focal signs
38
What are the clinical features of severe head injury?
- LOC at time of injury
| - Poor conscious state (GCS
39
What are fracture patterns in paediatrics?
1. Buckle pattern - compression inferiorly
2. Plastic bowing - bending without breaking cortex (more like deformity)
3. Greenstick - incomplete fracture to one side of cortex only
4. Complete fracture
40
What are some red flags for non-accidental fracture injury?
- Delayed presentation
- Mechanism incompatible with injury
- Vague/varying history
- Inappropriate parental attitude or interaction with child
- Features of FTT
- Signs of prior injury
- Femoral shaft fracture
41
What are common fractures in paediatrics?
1. Supracondylar
- Humeral condyles at elbow joint
- Commonly after FOOSH
- Peak in 5 – 8 yo
2. Forearm
- Greenstick, complete or plastic deformity
- Commonly after FOOSH
- Most common in 12 – 14 yo
3. Toddler’s fracture
- Undisplaced fracture without periosteal break
- Impact or twisting injury
- Rx - back slab
- Common in 9mo/walking to 3 yo
42
What are features on history that suggest NAI?
- Inappropriate parental response to event: vague, unconcerned, aggressive, too distressed
- Delay in reporting injury
- Frequent accidents
- Multiple attendances
- Previous injury or abuse of siblings
- Inconsistent or implausible history
- Acute onset social crisis or disturbance
- Previous DHS concerns
43
What features on examination suggest NAI?
- Fear or apathy towards other adults
- FTT
- Injuries: inconsistent with story or at unusual sites. Document all
- Hidden injuries: examine the fundus, chest, abdomen ± anogenital regions
44
What investigations are required for NAI?
- FBE and clotting studies to exclude organic causes of bruising
- Bone scan and skeletal survey to assess for bone fractures and healing
- If concern about head injury: CT brain
45
What is the initial management of NAI?
- DHS notification (mandatory)
- Notify and involve VFPMS
- Dx, Tx and document injuries
- Admit if medically necessary or for safety reasons
46
What features on history and exam suggest neglect
- FTT or developmental delay
- Unkempt dirty appearance, sores, untreated nappy rash
- May be abnormally affectionate to strangers (seeking human contact)
47
What are some causes/risk factors for congenital heart disease?
- Syndromes, eg/ trisomy 21, 18 or 13; Fragile X, midline defects (VATER)
- Maternal DM, rubella, PKU, SLE
- Maternal thalidomide, retinoic acid, lithium, SSRIs
- Maternal alcohol or marijuana
48
What are some types of cyanotic heart disease?
- ToF
| - TGA
49
What investigations should be performed to diagnose congenital heart disease?
- Echocardiogram (gold standard)
- CXR
- ECG
- ABG
50
When a child needs emergency transportation, what should be done while waiting for this service to arrive?
- Resuscitation (ABC), keep warm and monitor glucose
- Nil by mouth
- 2x IV lines
- Give fluid resuscitation ± low dose inotropes as indicated
- If CHD: trial of PG (will work if duct-dependent)
- Consider need for Abx
- Monitor for need to intubate
51
What are the main features of ASD?
1/ Impaired social interactions
2/ Impaired communication
3/ Restricted behaviour and interests
4/ Onset before 3yo
52
What are some examples of impaired social interactions in ASD?
- Impaired eye gaze
- Lack of social reciprocity
- Limited social smile
- Poor use of gestures
- Poor/absent joint attention
- Limited/absent peer relations
53
What are some examples of impaired communication in ASD?
- Language delay (commonly receptive)
- Echolalia
- Difficulties in pragmatic language
- Lack of pointing
- Lack of imaginative play
54
What are some examples of restricted interests/behaviours in ASD?
- Abnormal preoccupations and activities
- Delayed imaginative and social imitative play with limited interests
- Repetitive play
- Difficulties with change
- Stereotyped mannerisms
- Over- or under-reaction to stimuli
55
What are some conditions associated with ASD?
Epilepsy, ADHD, sleep disturbance, mental health issues
56
What are some DDx of ASD?
- Specific language delay
- ID/GDD
- Severe hearing impairment
- Child neglect/abuse
- Epileptic encephalopathy (RARE)
57
Are investigations routine in the assessment of ASD? What might you consider doing?
Investigations are no longer routine but may consider:
- Karyotype
- Chromosomal analysis
- Fragile X DNA test
- Hearing assessment
Uncommonly: EEG, MRI, metabolic studies
58
What is the Mx of ASD?
- Multidisciplinary care with early intervention strategies for management of behaviour and disabilities
- Parent education
- Drugs for behaviour as indicated, eg/ SSRI for anxiety
59
DDx of midline neck lump in children?
- Thyroglossal duct cyst
- Dermoid cyst
- Submental LN/abscess
- Goitre
- Ectopic thyroid
60
DDx of lateral neck lump in children?
- Cystic hygroma
| - Branchial cleft remnants (fistula, sinus, cyst)
61
What are the features of classical appendicitis?
- peri-umbilical pain that migrates to the RIF ± vomiting and anorexia
- Lying still, pallor, fetor, fever, RIF guarding (McBurney's point), tachycardia
- Psoas sign: pain on hip extension
- Obturatory sign: pain on hip IR
62
What are the features of retrocaecal appendicitis?
- Vague, non-localising RIF pain with deep RIF tenderness
| - DDx = mesenteric adenitis
63
What are the features of pelvic appendicitis?
- Lower abdominal pain and tenderness
- Urinary Sx and small volume diarrhoea
- DDx = gastroenteritis
64
What are the features of a perforated appendix?
- Generalised peritonitis
| - Typically younger
65
How might a child
- Lying very still, refuses to be cuddled
| - Rapid progression to perforation
66
How do you diagnose and what is the management of appendicitis?
- Dx on US
- Correct dehydration and electrolyte disturbance
- Appendicectomy
67
What are the complications of a appendicectomy?
- Wound infection
- Intra-abdominal collection
- Bowel obstruction
68
What is first line treatment for enuresis?
Pad and bell alarms
69
What diseases are associated with pathological lead points in intussusception?
- Meckel's diverticulum
- Polyps
- Vascular malformations
- Duplication cysts
70
What is the pathophysiology of intussusception?
- Intussusceptum (proximal bowel) invaginates into the intussuscipiens
- Commonly due to inflamed Peyer's patches in terminal ileum
- Leads to dehydration, bowel obstruction, ischaemia and perforation
71
What are the clinical features of intussusception?
- Colicky abdominal pain
- Vomiting: gastric --> bilious
- Lethargy
- Red currant jelly stool (LATE)
- Pale and diaphoretic
- Dehydration
- Palpable mass (early)
72
What is the main Ix and finding in intussusception?
US: target sign
73
What is the Mx of intussusception?
- Air enema (if simple)
| - Surgery
74
What does VACTERL stand for and what is it related to?
Associated anomalies:
- Vertebral
- Anorectal
- Cardiac
- Tracheal
- Oesophageal
- Renal
- Limb
75
What is the first aid management of a seizure?
- Protect the patient: move objects away from them, soft object under head, loosen anything around the neck
- Time the seizure
- Do not put anything in their mouth
- Do not retrained them
- When finished: recovery position, 000
76
What are some causes of GDD?
- Chromosomal abnormalities: Down syndrome, Fragile X
- Prenatal injury: teratogenic drugs, infection, FAS
- Perinatal injury: hypoxic-ischaemic insult --> CP
- Postnatal injury: meningitis, NAI/neglect
- CNS malformations: NT defects, hydrocephalus
- Hypothyroidism
- Inborn errors of metabolism
- Neurodegenerative syndromes
- Neurocutaneous syndromes (eg/ tuberous sclerosis)
- Autism
- Idiopathic
77
What is the classical presentation of coeliac disease?
- Poor weight gain in first 2 years
- Chronic diarrhoea
- Anorexia, apathy, abdominal distension
78
What tests are required for the diagnosis of coeliac disease?
- tTg IgA Ab and total serum IgA
- Small bowel biopsy (gold standard)
- Consider stool MCS, FBE and iron
79
Differentials of language/speech delay? How do you differentiate these?
- Autism, will have a triad of impairments:
○ Social interactions
○ Communication (verbal and non-verbal)
○ Imagination with a rigidity of though and behaviour (eg/ stereotypic mannerisms and an insistence of sameness)
- Hearing impairment: impaired speech but appropriate non-verbal communication and will be normal in other developmental domains
- Specific language delay: no delays in other developmental domains
- Global developmental delay: delays in other developmental domains
- Severe social deprivation: identified from history and may exhibit a range of delays depending on the circumstances
80
A spiral fracture of the humerus is characteristic of what type of injury?
NAI
81
What are the contraindications for LP?
- Signs of raised ICP: lethargy, drowsiness, focal signs
- Cardiorespiratory compromise
- If meningitis is clinically evident and would give Abx despite CSF results
82
What are the classical findings of Kawasaki's disease?
Runny nose, fever, cervical lymphadenopathy, rash, conjunctivitis. No response to Abx
83
What Ix diagnoses Hirschsprung's disease?
AXR
84
What are some triggers for eczema?
Saliva, chemicals, detergents, water, food and environmental allergies, food intolerance, animal dander
85
What are the principles of eczema management?
- Adequate skin care: emollients, topical steroids for flares, wet dressings ± tar
- Environmental manipulation: reduce heat, improve dryness, avoid irritating clothes
- Avoid triggers
- Adequate Tx of flares: removal of crusts, oral Abx if needed, bleach and salt baths
- Eczema Mx plan and education
86
What are the causes of FTT?
- Inadequate caloric intake/retention, eg/ inadequate nutrition, structural causes, GI pain, anaemia of chronic disease
- Inadequate absorption: coeliac disease, CLD, CF, CMPA
- Excessive utilisation: chronic illness, UTI, CF, CHD, DM, hyperthyroid, malignancy
- Psychosocial factors: neglect/abuse, poverty, difficult chuld
87
What features on history would you look for in FTT?
- Feeding and nutritional Hx: what? How often? Amount? Breastfeeding or solids?
- Intercurrent illnesses
- Systems screen
- DD or regression
- Dirty or wet nappies: how many? Changes?
- Social work or DHS involvement
- Immunisations, allergies
- FHx: maternal depression? Growth delay? Illnesses? Consanguinity?
88
DDx of an irritable baby
- Physiological
- Infant colic
- GIT: GOR/GORD, CMPA, lactose intolerance
- Psychosocial neglect
89
What is the Mx of infant colic?
- Reassurance that child is healthy
- Prevent exhaustion, encourage short respites
- Soothing music with parental interaction
- Regular follow up
90
C/I for circumcision
Hypospadias
91
Complications for circumcision
- Bleeding
- Infection
- Ulceration of glands and meatus
- Penile deformity
- Acute urinary retention
92
Indications (medical) for circumcision
Phimosis, paraphimosis, recurrent balanitis, recurrent UTIs
93
Initial Ix when for childhood obesity
Fasting glucose and OGTT
Lipid profile
TFTs
LFTs
94
Definition of short stature
95
Initial Ix for short stature? What do you want to rule out?
Ix = FBE, TFTs, UEC, ESR and tTg Ab, IGF-1, hand and wrist x-ray
Want to rule out: true GH deficiency, hypothyroidism and Turner's
96
When is puberty considered precocious?
97
When is puberty considered delayed?
>14yo in girls, >15yo in males
98
What investigations should be ordered when assessing developmental delay?
```
Karyotype/microarray
FMR1 triplet repeat
FBE, UEC, LFTs
TFTs
Urine metabolic screening and mucopolysaccharide screen
CK in boys
```
99
What is the definition of cerebral palsy?
Group of disorders of development of movement and posture due to non-progressive insults on the developing fetal/infant brain. Often accompanied with sensory, cognitive, communication, perception and behaviour disturbances ± epilepsy and orthopaedic complications
100
What are common features of cerebral palsy?
Tone disorder
Spasticity, dystonia
Deformity, contracture
101
What is the most common genetic cause of moderate intellectual impairment?
Down's syndrome
102
What disease commonly affects people with Down's syndrome in their 40s?
Alzheimer's disease
103
What is the nucleotide repeat in Fragile X?
CGG
104
Chance of recurrence in Down's syndrome?
1%
105
Chance of recurrence in Fragile X?
25%
106
Prevalence of autism spectrum disorder?
1/160
107
Risk of recurrence of ASD?
5-10%
108
Definition of enuresis?
Wetting while asleep after 5yo
109
What is monosymptomatic enuresis?
Night wetting without daytime urinary symptoms
110
What is believed to be the pathophysiology of enuresis?
1- High nocturnal urine output
2- Small nocturnal functional bladder capacity
3- Poor arousal from sleep with full bladder
111
At what age do you treat enuresis?
7yo (10yo is a red flag)
112
At what age do you treat day wetting?
4yo
113
What Ix is used to diagnose an overactive bladder (day wetting)?
Uroflow
114
What Ix is used to diagnose dysfunctional voiding (day wetting)
Post-residual void US
115
What is the Mx for an overactive bladder (day wetting)?
Oxybutynin
116
What is the Mx for an dysfunctional voiding (day wetting)?
Urotherapy: regular voiding, pelvic floor relaxation, posture, check bowels
117
What is the Mx for dysfunctional elimination syndrome?
Fix bowel first, then overactive bladder then nocturnal enuresis with urotherapy for tough cases
118
At what age can faecal incontinence be diagnosed?
4yo
119
Pathophysiology of constipation-associated faecal incontinence
Withholding
Increased volume and pressure in rectal ampulla
Chronic stretching of rectal ampulla
Rectal hyposensitivity
Intermittent relaxation of external anal sphincter
Unexpected faecal leakage
120
Mx of faecal incontinence
Toileting tailored program: maximise emptying and sensation
Laxatives for initial clear out ± maintenance
Posture: feet supported, knees above hips, legs apart, bulge tummy
Removal barriers and add rewards
121
At what age should solids be introduced?
4-6mo
122
When is low fat milk appropriate for children?
From 2yo
123
What influences growth and development?
Genetics
Environment - culture, education, attitudes
Pregnancy - maternal BP, drug/smoking, health status, infection
Perinatal - hypoxia, delivery, prematurity
Postnatal - infection, illness, nutrition
Intrapersonal - personality, birth order, parental bond
124
When is bowel and bladder control typically achieved?
2-4yo (unless night-time bladder control = 5-7yo)
125
Most common cause of persistent stridor in infants?
Laryngomalacia
126
Most common causative agent of croup?
Parainfluenza type 1
127
Most common causative agent of bronchiolitis?
RSV
128
Most common cause of pneumonia in paediatric populations?
Viruses
129
Most common cause of chronic cough in paediatrics?
Protracted bacterial bronchitis
130
What disease may SUFE be associated with?
Endocrinopathy or metabolic abnormalities: hypothyroidism, hypogonadism, GH abnormalities, panhypopituitarism, renal osteodystrophy
131
Congenital heart disease: fixed splitting of S2
ASD (systolic, LUSE)
132
Congenital heart disease: pan-systolic murmur at LLSE, radiating to back and axilla
VSD
133
Congenital heart disease: premature newborn with prolonged ventilation requirement
PDA
134
Congenital heart disease: ejection click at LUSE
PS
135
Congenital heart disease: click at RUSE
AS
136
Lesions in ToF
VSD, RH hypertrophy, PS
137
Dietary advice in iron deficiency
Breastfed infants >4-6mo often require additional iron
| Limit cow's milk to children >12mo and
138
A/E of ferrous iron salts
Black stools, constipation
139
Commonest cause of limp in pre-school age group
Transient synovitis of the hip
140
Most likely cause of limp in an overweight, early adolescent child
SUFE
141
Exomphalos is what genetic disease UPO?
Beckwith-Wiedemann syndrome
142
What medications can be used for angina prophylaxis?
1st line = beta-blockers
2nd line = non-dihydropyridine Ca blockers (verapamil, dilitazem)
Consider long acting nitrates
Consider SA-nitrates before exercise
143
What are the most common causes of UTI in complicated vs. non-complicated?
Complicated - E.coli (70-95%), S. saprophyticus (5-10%)
Uncomplicated - E.coli (20-50%), proteus, klebsiella, enterococci, group B strep
144
Should asymptomatic bacteuria be treated?
No - unless pregnant or undergoing urological surgery
145
What is the Rx for UTI?
1st line = trimethoprim
2nd line = cephalexin (1st gen ceph)
3rd line = co-amoxyclav OR nitrofurantoin
In pregnancy do not use trimethoprim (teratogenic)
1st line = Cephalexin OR nitrofurantoin
146
What is the difference in antibiotic course length for men vs. women?
Men need a longer course ~7 days
| Women need only ~3-5 days
147
When should UTI be Ix further?
All men should be examined (including DRE) and investigated as cause is likely due to anatomical or functional GUT abnormality
148
What are considerations for UTI in paediatrics?
If suspected UTI always take urine culture and start empirical antibiotics
Suspect if symptoms of UTI, positive leucocyte esterase or nitrites on urinalysis
UTI in kids usually acute pyelonephritis but can be difficult to distinguish with acute cystitis clinically
- if fever or loin pain/tenderness treat as pyelonephritis
149
What is the Rx for UTI in kids?
1st line = trimethoprim + sulfamethoxazole OR trimethoprim
2nd line = cephalexin
3rd line = co-amoxyclav
If pyelonephritis as per cystitis but longer oral course of 7-10 days or if serious IV gentamycin + amoxicillin
All infants
