pg 42 Flashcards
1
Q
How is inguinal hernia managed?
A
Reduction (Taxis) under anaesthesia then plan surgery when oedema
settles. Prompt surgical repair is needed due to high incarceration risk.
Procedure: Herniotomy (ligation and division of the processus vaginalis)
2
Q
What differentiate a hydrocele from a hernia?
A
Can get above it
Transilluminate
3
Q
How does Varicocele present and how is it managed?
A
- Post-puberty
- Bag of warms
- Left-sided
- TX: Gonadal vein ligation/ embolization if symptomatic
4
Q
What is the management of undescended testes?
How common are
they?
A
1:20 Repair around 1 year of age o Cosmetic o Fertility o Malignancy o Torsion
5
Q
DDX of the acute scrotum? How is it managed?
A
Testicular torsion: repair quickly
Incarcerated hernia
Epidydimo-orchitis
Appendix testes torsion
Mgt: Emergency testicular exploration and detorsion
6
Q
indications and contraindications of circumcision?
A
Indications:
o BXO causes true phimosis
o UTIs
o Need for IC in SP
Contraindication:
o Hypospadias.
7
Q
What is hypospadias? What causes it? What are the associated features? And how is it managed? .
A
- Opening of urethral meatus on the ventral penile shaft
- Failure of ventral urethral closure
- Repair around two years to achieve straight stream and erection
- Types: Glandular, coronal, Mid-shaft and penoscrotal
8
Q
What are the genital conditions seen in female infants?
A
Vulvovaginitis due to nappy rash
Labial adhesions
9
Q
What are the manifestations of hepatic dysfunction?
A
- Impaired hepatic synthetic function
- Impaired hepatic detoxification function - encephalopathy
- Portal hypertension
- Cholestasis
10
Q
Impaired hepatic synthetic function Sx
A
abnormal coagulation
bruising
petechial
hypoalbuminaemia
11
Q
Portal hypertension
A
Varicies splenomegaly hypersplenism ascites SBP hepatorenal syndrome
12
Q
Cholestasis
A
Pruritus, jaundice, pale stool, dark urine, fat
malabsorption, vitamin deficiency, malnutrition, loss of fat stores and
muscle wasting
13
Q
main causes of prolonged neonatal jaundice?
A
• Unconjugated (resolves spontaneously):
Breast milk jaundice,
infection, and haemolysis.
• Conjugated > 25:
o Biliary atresia, Choledochal cyst
o Neonatal hepatitis syndrome: Viral, metabolic (A1-antitrypsin,
Galactosemia)
o Intrahepatic biliary hypoplasia: Alagille syndrome
o Choledochal cysts
14
Q
Biliary atresia TX:
A
Kasai hepatoportoenterostomy => 80% clear jaundice if
performed before 60 days but most develop cholangitis with cirrhosis=> nutritional support and transplantation
15
Q
Choledochal cysts:
A
Abdominal mass
DX: MRCP
TX: excision and roux-en-Y
anastomosis => Cholangitis and 2% malignancy risk.
16
Q
Alagille syndrome
A
AD, JAG-1 mutation, Intrahepatic biliary
hypoplasia+ pulmonary stenosis+ triangular faces
17
Q
A1-Antitrypsin
A
PiZZ, chr.14, + emphysema
18
Q
Galactosemia
A
Vomiting
hepatomegaly
cataracts
G- sepsis
19
Q
acute liver failure causes:
A
- Infection
- Metabolic
- Paracetamol
20
Q
acute liver failure Presentation:
A
- Encephalopathy
- Jaundice
- Bleeding
21
Q
acute liver failure Diagnosis:
A
• Bloods: Sky-high LFTS, hypoglycaemia, abnormal coagulation, high
bilirubin and ammonia.
• Abnormal EEG
• Cerebral oedema on CT.
22
Q
acute liver failure Mgt:
A
Transfer to hepatic centre while preventing:
• Hypoglycaemia (Dextrose)
• Infection (BS AB and AF)
• Bleeding (V.K and PPI)
• Oedema (Fluid and salt restriction with Manitol).
23
Q
What are the causes of chronic liver disease in older children?
A
- Infection hepatitis B and C
- Metabolic Wilson, A1ATD, CF
- Drugs NSAIDS
- NAFLD
- Wilson
- Fibro polycystic (cilopathies):
- CF
24
Q
Wilson
A
o Abnormal cerulopalsim production and copper release
o Neuropsychiatric, KF ring, rickets, haemolytic anaemia
o DX: Low serum co and CP, high in urine
o TX: penicillamine or trientene, Zinc, pyridoxine
25
Fibro polycystic (cilopathies)
congenital hepatic fibrosis (bands and
ductules) with normal LFTS+ kidney cysts (Abnormal RFTs and HTN)
=> Combined transplant.
26
CF
Results from steatosis and bile plugging.
TX:
nutritional support, UDCA, transplant (+ liver and lung)
27
most common malignancies of childhood?
* ALL and lymphomas.
| * Brain (younger) => Bone (adolescent)
28
What are the main malignancies of childhood investigations?
* Radiology
| * Pathology (Biopsy, aspiration) => Histology and cytogenetic
29
malignancies of childhood TX MODALITIES
Chemo
Radio
Surgery
Targeted
30
malignancies of childhood Chemotherapy:
```
o Primary (ALL)
o Neoadjuvant (soft tissue)
o Adjuvant (others)
```
SE
Bone marrow suppression (Bleeding, anaemia),
Immunosuppression (infection) ,gut and mucosal damage (Under nutrition), alopecia
31
malignancies of childhood Radiotherapy:
```
o EBR
o Proto beam (more targeted)
o IV: MIBG for neuroblastoma
o Damage to surrounding structures and severe neurocognitive
impairment (Intracranial irradiation)
```
32
malignancies of childhood Surgery:
o Initial biopsy
| o Later: remove residual disease
33
malignancies of childhood Targeted:
o Ph+ ALL
o Rituximab
o Anti-GD2 (Neuroblastoma)
34
Acute Leukaemia Presentation
o Bone marrow failure: Anaemia, bleeding, infection, bone pain.
o Reticuloendothelial infiltration: Lymphadenopathy, HSM
o CNS infiltration: Raised ICP and CN palsies
o General: Anorexia, malaise, weight loss
35
Acute Leukaemia investigations
```
o FBC
o Clotting screen
o Blood film
o Bone marrow aspirate
o CSF
o CXR
```
36
Acute Leukaemia Tx
o Remission induction (Transfusion, hydration, allopurinol, Chemo
and steroids)
o Intensification (High dose chemo to maintain remission)
o CNS: Intra-thecal chemo
o Maintenance: 3 years of moderate intensity chemo with
Clotrimazole prophylaxis
o Relapse: High dose chemo, total body irradiation and BMT
37
Brain tumor types
o Supratentorial (cortex): Astrocytoma/ GBM (most common):
Behavioural change
o Midline: Craniopharyngioma: Visual defects and pituitary failure
o Cerebellar: Medulloblastoma: Ataxia
o Brain stem: BS Gliomas (nerve palsies)
38
Brain tumor Dx + Tx
INX: MRI and lumbar puncture
TX: surgery +/- CRT
39
Lymphoma
| What are the main types and how do they present?
Hodgkin: Adolescents, Painless lymphadenopathy
Non-Hodgkin: T-cell (Mediastinal mass), B-cell (Lymphadenopathy,
abdominal Intussisuption)
Burrkitt: Endemic: Africa, Jaw, EBV. Sporadic: HIV
40
Lymphoma INVX + Tx
INVX: CT nodes, biopsy (nodes and marrow), CSF.
Mgt: Combination chemo; curable
41
Wilm’s:
```
• Nephroblastoma
• Abdominal mass in otherwise well child, does not cross the midline,
Haematuria and hypertension
• DX: US +CT TAP (mets to lungs)
• TX: Surgery.
```
42
Neuroblastoma:
• Neural crest
• Abdominal mass + Mets+ cord compression, crosses the midline
• Dx confirmed by urinary catecholamine and MIBG scan
• TX: Surgery and high dose chemo with stem cell rescue,
Radiosensitive, Anti-GD2, retinoic acid
43
Soft tissue tumors:
Sarcomas:
Bone:
Sarcomas: Rhabomyosarcoma of the H+N is the most common
Bone: Osteosarcoma is the most common, Ewing in younger children
(Soft tissue mass, radiosensitive). Male
44
Retinoblastoma
AD inheritance with incomplete penetrance, CH.13. Bilateral always
inherited.
Child < 3 yo with white reflex and squint
DX: EUA and MRI
TX: Neoadjuvant chemo and Laser, Radio for relapse and enucleation
for advanced.
PX: Severe visual loss, secondary sarcomas
45
What are Langerhans cells histiocytosis?
Rash+ lytic lesions
| DI
46
What are the long-term implications of childhood tumors?
* Organ damage
* Growth and endocrine
* Neuropsychiatric
* Educational and social
* Secondary malignancies
* Infertility
47
classical triad of diabetes?
* Polydipsia
* Polyuria
* Weight loss
48
WHO criteria for diabetes diagnosis?
Random > 11.1 mmol/ l or fasting > 7 mmol/L
49
Diabetic children targets
Target 4-7 before meals, HBA1C (3-monthly) < 48 or 65%.
Sick day roles: Check ketones 5 times and increase insulin.
50
What are the commonly used types of insulin regimen?
* Basal-bolus: Basal (long acting, Detemir or glargine, at night or morning) + 3 bolus doses before meals (Gluilisine, aspart, lispro).
* 2 injections (mixed short and intermediate), for simplicity but less flexible.
51
long-term complications of diabetes?
Micro vascular: Retinopathy, neuropathy, nephropathy (decreased by
tight glycaemic control, and screened for annually from 12 yo)
Macro vascular: MI, stroke, PVD
52
DKA Clinical features:
```
o Kaussmal breathing
o Ketotic breath
o Abdominal pain and vomiting
o Dehydration
o Hypovolemic shock
o Altered consciousness => coma and death
```
53
DKA Diagnosis:
o Blood glucose > 11.1
o Blood ketones > 3
o U+E+ C: initial hyperkalaemia and high urea (dehydration)
o ABG < 7.3
o Cardiac monitor (T wave)
o Weight and compare to last visit (dehydration if > 10% wt. loss).
o Identify infection focus (urine and blood cultures).
54
DKA Tx
IV fluids
Initial resuscitation: 10 ml/ kg: 0.9% NACL + 40 mmol/L
KCL for first 12 hrs (Add 5% glucose if plasma glucose
below 14). After 12 hrs exchange normal saline with
0.45%.
Maintenance fluids: 100 ml/ Kg (first 10). 50 ml/kg (next
10). 20 mls/ Kg thereafter (subtract initial fluids).
Correct deficit slowly over 48 hours to avoid cerebral
oedema
Monitor: Glucose, ketones hourly. K, PH and electrolytes
2-hourly, fluid balance and neurological status.
Insulin infusion: No bolus. Give after fluids running for 1 hour:
0.1 unit/kg/ hr.
K: Start with fluids, monitor twice hourly and ECG until stable.
o Re-establish (oral fluids, SC insulin and diet): Do not stop IV insulin until 1 hr after SC insulin.
treat cause (infection?)
55
non-diabetic causes of hypoglycaemia?
Do not ever forget glucose in any sick child
```
Fasting:
High insulin: Exogenous
Normal insulin:
Ketotic hypoglycaemia of childhood
Glycogen
storage disorder.
```
Non-fasting:
Galactosemia,
fructose intolerance.
56
congenial hypothyroidism causes
Maldescent (most common), Iodine deficiency (most common world-wide), dyshormonogenesis
Detected on heel prick and is preventable cause of severe learning
disability
57
congenial hypothyroidism clinical:
```
Feeding difficulty
hypotonia
prolonged jaundice
constipation
dry, mottled and cold skin hoarse cry
coarse facial
features
protruding tongue
umbilical hernia
faltering growth
developmental delay
severe learning disability
```
58
congenial hypothyroidism TX:
Thyroxine before 2 weeks of age
59
CAH cause
21-hydroxylase deficiency => decreased aldosterone and cortisol and excess sex steroids
60
CAH presents as
virilisation in females and salt wasting in 80% of males and
| tall stature and precocious puberty in 20%
61
CAH TX:
lifelong hormone replacement + steroids before surgery and acute illness,
Surgery for females.
Monitor growth, skeletal maturity, serum androgens and 17-ahydroxyprogesterone.
62
most common cause of Cushing’s syndrome, how can we prevent it?
Long-term steroid therapy (in any route).
Prevent by morning doses
and alternate day therapy
63
Steroids SE
Growth, behaviour, Hyperglycaemia and hypertension,
| osteopenia and muscle wasting, cushioned features, bruising
64
red flags for headache in children?
o Worse when lying down or straining
o Wake them up
o EM N&V
o Change in concentration, behaviour, personality
o Eyes: Altered visual fields, squint, papilledema
o Gait, growth, co-ordination and balance
o CN palsies.
65
Seizure ddx
```
• Epilepsy - 2 or more unprovoked
• Acute symptomatic (Brain insult. E.g. hypoglycaemia)
• Febrile
• Non-epileptic:
o Convulsive syncope (Cardiac, neural, apnoeic)
o Sudden rise in ICP
o Sleep disorders
o Functional
```
66
What are febrile seizures and how are they managed?
Non-epileptic seizures, happens in 3% of 6M-6Y children, with genetic
predisposition
Need infection screen and provide rescue meds (buccal midazolam)
67
Blue breath-holding spells
Cry
arrest in expiration
Goes blue, stiff then limp
quickly recover
68
reflex asystolic syncope
Pain =>
| Pale, collapse, seizure => recover or sleep for 1 hour
69
types of epileptic seizures?
Generalised (No warning, LOC> 3 sec, Symmetrical)
Tonic-clonic: Stiff-Jerks (Tongue biting, cyanosis, Incontinence,
Post-ictal fatigue)
Tonic: Stiff
Atonic: Fall
Myoclonic: Jerky.
Focal: Sensory/ motor phenomenon depending on the lobe.
70
epilepsy Dx
• Inter-ictal EEG, Ambulatory 24 hr. EEG, Video telemetry
• ECG: Exclude cardiac syncope
• Structural: MRI/ CT:
• Functional: PET/ SPECT:
• Metabolic/ genetic: Only if intractable epilepsy with developmental
arrest/ delay/ regression
71
common types of epilepsy syndromes?
```
West syndrome
Lennox-Gestaut syndrome (LGS)
Panayiotopoulos syndrome
Benign Rolandic epilepsy
Juvenile abcense epilepsy
Juvenile myoclonic epilepsy
```
72
West syndrome
o Infants
o Clustered spasms
o Hypsarrhythmia
o Poor prognosis
73
Lennox-Gestaut syndrome (LGS)
o Toddlers
o Multiple seizure types
o Slow Generalised spike and wave (1-3 HZ)
o Poor prognosis
74
Panayiotopoulos syndrome
| Early onset benign occipital epilepsy
o Pre-schoolers
o Unresponsive stare in sleep+head and eye deviation+ vomiting
o Focal occipital waves and discharges when eyes shut
o Remits in childhood
75
Benign Rolandic epilepsy (Benign epilepsy with centro-temporal spikes)
```
o Primary school
o TCS in sleep, abnormal mouth sensations, gurgling sounds and
face distortions.
o Focal spikes in the rolandic area.
o Remits in Adolescence
o 15% of childhood epilepsies
o May not require AED
```
76
Juvenile abcense epilepsy
o 10-20 years
o Lapses of unresponsive stare and motor arrest, last 30 secs,
can be brought by hyperventilation
o Fast Generalised spike and wave (304 hz)
o Lifelong AED. Vs. Chldhood onset: 80% remission
77
Juvenile myoclonic epilepsy
o 10-20 years
o Myoclonic seizures (dropped the bowel of cereal in the morning)
+/- TCS, absence. Triggered by lack of sleep and alcohol
o EEG: Genralised spike and wave form
o Good response to TX but remission unlikely
78
What anti-epileptics drugs are used for seizures
* Generalised: Valproate => Clobazam
* Focal: Carbamazepine, leveteriacetam => Clobazam
* Avoid Carbamazepine in Juvenile epilepsies
79
central movement
| disorders features
```
o Floppiness/ hypotonia
o Difficulty feeding and breathing
o Delayed Motor Milestones
o Muscle weakness
o Unsteady/ abnormal gait (Waddling in proximal myopathy)
o Fatigability
o Cramps
```
80
central movement
| disorders categories
o Anterior horn: LMN
o Nerve: Distal weakness, altered sensation
o NMJ: Fatigability
o Myopathy: Proximal weakness, Gower’s sign
o Myositis: Pain
o Metabolic myopathy: Cramps
81
peripheral movement disorders
Anterior horn:
o Polio
o Spinal muscular atrophy (Werding-hoffman disease)
Peripheral nerve:
Hereditary Motor sensory neuropathies (CMT)
Guillain–Barré syndrome (acute post-infectious
polyneuropathy)
Duchenne Muscular dystrophy
82
Spinal muscular atrophy (Werding-hoffman disease)
Type 1 is the worst
| Child never sit and dies by 1 year from resp failure
83
Hereditary Motor sensory neuropathies (CMT):
Genetics: AD CMT1A gene => Abnormal myelin
```
Sx
o Progressive symmetrical distal muscle
wasting
o Bilateral foot drop => Tripping over
o Pes Cavus
o Initial presentation similar to Friedreich ataxia
```
Dx: Nerve conductions studies + Nerve biopsy
(Onion bulb formation)
84
Guillain–Barré syndrome (acute post-infectious
| polyneuropathy)
Sx
o 2–3 weeks after an upper respiratory tract
infection or campylobacter gastroenteritis
o Ascending neuropathy
o Difficulty chewing and swallowing with risk
of respiration
o Dysautonomia: Urinary retention, ileus and
loss of sweating
Dx
MRI to exclude SC lesion
CSF - High protein but normal WBC
Nerve conduction slow
Tx:
IVIG or plasma exchange
85
Duchenne Muscular dystrophy genetics
```
• X-linked recessive
• Dystrophin gene deletion
• Myofibril necrosis
• The plasma creatine kinase (CK) is markedly
elevated.
```
86
Duchenne Muscular dystrophy features
• Waddling gait
• They have to mount stairs one by one and run
slowly compared with their peers.
• Gowers sign (the need to turn prone to rise).
• Pseudohypertrophy of the calves
• In the early school years, affected boys tend to be
slower and clumsier than their peers
• Learning difficulties. Scoliosis is a common
complication
• Language/ Motor delay;
87
Duchenne Muscular dystrophy mgt
• Prevent contractures (physio and splints)
• Scoliosis surgery
• Nocturnal hypoxia (weak intercostal muscles) =>
Headache, irritability, sleepiness, reduced appetite
=> Overnight CPAP
• Ambulant children receive steroids to preserve
mobility and prevent scoliosis
• Ataluren: for non-sense (stop mutation): Bypass
the mutation and produce some Dystrophin.
88
DDX in a floppy infant?
* Central: HIE, Syndromes
* SC: Birth trauma, SMA
* NMJ: MG
* Peripheral nerves: CMT
* Muscle: Dystrophies, metabolic myopathies
89
Frederick ataxia:
Can not see, speak, eat sweet
Sx:
Signs:
```
Progressive ataxia
Dysarthria
Diabetes
Cardiomyopathy
Optic atrophy
```
```
Distal wasting
Pes cavus
Kiphoscoliosis
Absent reflexes
No vibration sense or proprioception
Positive Rhomberg sign
```
90
Frederick ataxia genetics:
AR triplet repeat expansion of Frataxin gene = absent
| frataxin protein
91
Meningomyelocele:
o Closed at birth
o Hydrocephalus (Chiari 2) => P shunt
o Lower limb paresis
o Loss of sensation => skin damage
o Neuropathic bladder => Intermittent catheterisation
o Neuropathic bowel => Bowel washouts, special diet
o Hip dislocation, Talipes and scoliosis => Surgery
o Regular checks for renal function, hypertension and UTIs=>
Prophylactic antibiotics and oxybutynin
92
NFM Dx 2/6 criteria
Skin:
Six or more café-au-lait spots greater than 5 mm in size
before puberty, greater than 15 mm after puberty
More than one neurofibroma
Axillary freckling
Eye:
Optic glioma which may cause visual impairment
One leish nodule: Hamartoma of the Iris seen on slit lamp
examination
Bone:
Lesions from sphenoid dysplasia => Eye protrusion or
fractures
FHX - FDR with NFM1
93
Other clinical features:
```
Brain:
Learning and behavioural difficulties
Epilepsy
personality changes
weakness on one side of the body
difficulties with balance and co-ordination
o Hypertension and auditory
o Physical development:
Abnormal growth
Scoliosis
o Malignancy:
Change in a neurofibroma
```
