pg 42 Flashcards
How is inguinal hernia managed?
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)
What differentiate a hydrocele from a hernia?
Can get above it
Transilluminate
How does Varicocele present and how is it managed?
- Post-puberty
- Bag of warms
- Left-sided
- TX: Gonadal vein ligation/ embolization if symptomatic
What is the management of undescended testes?
How common are
they?
1:20 Repair around 1 year of age o Cosmetic o Fertility o Malignancy o Torsion
DDX of the acute scrotum? How is it managed?
Testicular torsion: repair quickly
Incarcerated hernia
Epidydimo-orchitis
Appendix testes torsion
Mgt: Emergency testicular exploration and detorsion
indications and contraindications of circumcision?
Indications:
o BXO causes true phimosis
o UTIs
o Need for IC in SP
Contraindication:
o Hypospadias.
What is hypospadias? What causes it? What are the associated features? And how is it managed? .
- 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
What are the genital conditions seen in female infants?
Vulvovaginitis due to nappy rash
Labial adhesions
What are the manifestations of hepatic dysfunction?
- Impaired hepatic synthetic function
- Impaired hepatic detoxification function - encephalopathy
- Portal hypertension
- Cholestasis
Impaired hepatic synthetic function Sx
abnormal coagulation
bruising
petechial
hypoalbuminaemia
Portal hypertension
Varicies splenomegaly hypersplenism ascites SBP hepatorenal syndrome
Cholestasis
Pruritus, jaundice, pale stool, dark urine, fat
malabsorption, vitamin deficiency, malnutrition, loss of fat stores and
muscle wasting
main causes of prolonged neonatal jaundice?
• 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
Biliary atresia TX:
Kasai hepatoportoenterostomy => 80% clear jaundice if
performed before 60 days but most develop cholangitis with cirrhosis=> nutritional support and transplantation
Choledochal cysts:
Abdominal mass
DX: MRCP
TX: excision and roux-en-Y
anastomosis => Cholangitis and 2% malignancy risk.
Alagille syndrome
AD, JAG-1 mutation, Intrahepatic biliary
hypoplasia+ pulmonary stenosis+ triangular faces
A1-Antitrypsin
PiZZ, chr.14, + emphysema
Galactosemia
Vomiting
hepatomegaly
cataracts
G- sepsis
acute liver failure causes:
- Infection
- Metabolic
- Paracetamol
acute liver failure Presentation:
- Encephalopathy
- Jaundice
- Bleeding
acute liver failure Diagnosis:
• Bloods: Sky-high LFTS, hypoglycaemia, abnormal coagulation, high
bilirubin and ammonia.
• Abnormal EEG
• Cerebral oedema on CT.
acute liver failure Mgt:
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).
What are the causes of chronic liver disease in older children?
- Infection hepatitis B and C
- Metabolic Wilson, A1ATD, CF
- Drugs NSAIDS
- NAFLD
- Wilson
- Fibro polycystic (cilopathies):
- CF
Wilson
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
Fibro polycystic (cilopathies)
congenital hepatic fibrosis (bands and
ductules) with normal LFTS+ kidney cysts (Abnormal RFTs and HTN)
=> Combined transplant.
CF
Results from steatosis and bile plugging.
TX:
nutritional support, UDCA, transplant (+ liver and lung)
most common malignancies of childhood?
- ALL and lymphomas.
* Brain (younger) => Bone (adolescent)
What are the main malignancies of childhood investigations?
- Radiology
* Pathology (Biopsy, aspiration) => Histology and cytogenetic
malignancies of childhood TX MODALITIES
Chemo
Radio
Surgery
Targeted
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
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)
malignancies of childhood Surgery:
o Initial biopsy
o Later: remove residual disease
malignancies of childhood Targeted:
o Ph+ ALL
o Rituximab
o Anti-GD2 (Neuroblastoma)
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
Acute Leukaemia investigations
o FBC o Clotting screen o Blood film o Bone marrow aspirate o CSF o CXR
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
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)
Brain tumor Dx + Tx
INX: MRI and lumbar puncture
TX: surgery +/- CRT
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
Lymphoma INVX + Tx
INVX: CT nodes, biopsy (nodes and marrow), CSF.
Mgt: Combination chemo; curable
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.
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
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
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
What are Langerhans cells histiocytosis?
Rash+ lytic lesions
DI
What are the long-term implications of childhood tumors?
- Organ damage
- Growth and endocrine
- Neuropsychiatric
- Educational and social
- Secondary malignancies
- Infertility
classical triad of diabetes?
- Polydipsia
- Polyuria
- Weight loss
WHO criteria for diabetes diagnosis?
Random > 11.1 mmol/ l or fasting > 7 mmol/L
Diabetic children targets
Target 4-7 before meals, HBA1C (3-monthly) < 48 or 65%.
Sick day roles: Check ketones 5 times and increase insulin.
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.
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
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
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).
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?)
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.
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
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
congenial hypothyroidism TX:
Thyroxine before 2 weeks of age
CAH cause
21-hydroxylase deficiency => decreased aldosterone and cortisol and excess sex steroids
CAH presents as
virilisation in females and salt wasting in 80% of males and
tall stature and precocious puberty in 20%
CAH TX:
lifelong hormone replacement + steroids before surgery and acute illness,
Surgery for females.
Monitor growth, skeletal maturity, serum androgens and 17-ahydroxyprogesterone.
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
Steroids SE
Growth, behaviour, Hyperglycaemia and hypertension,
osteopenia and muscle wasting, cushioned features, bruising
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.
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
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)
Blue breath-holding spells
Cry
arrest in expiration
Goes blue, stiff then limp
quickly recover
reflex asystolic syncope
Pain =>
Pale, collapse, seizure => recover or sleep for 1 hour
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.
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
common types of epilepsy syndromes?
West syndrome Lennox-Gestaut syndrome (LGS) Panayiotopoulos syndrome Benign Rolandic epilepsy Juvenile abcense epilepsy Juvenile myoclonic epilepsy
West syndrome
o Infants
o Clustered spasms
o Hypsarrhythmia
o Poor prognosis
Lennox-Gestaut syndrome (LGS)
o Toddlers
o Multiple seizure types
o Slow Generalised spike and wave (1-3 HZ)
o Poor prognosis
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
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
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
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
What anti-epileptics drugs are used for seizures
- Generalised: Valproate => Clobazam
- Focal: Carbamazepine, leveteriacetam => Clobazam
- Avoid Carbamazepine in Juvenile epilepsies
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
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
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
Spinal muscular atrophy (Werding-hoffman disease)
Type 1 is the worst
Child never sit and dies by 1 year from resp failure
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)
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
Duchenne Muscular dystrophy genetics
• X-linked recessive • Dystrophin gene deletion • Myofibril necrosis • The plasma creatine kinase (CK) is markedly elevated.
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;
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.
DDX in a floppy infant?
- Central: HIE, Syndromes
- SC: Birth trauma, SMA
- NMJ: MG
- Peripheral nerves: CMT
- Muscle: Dystrophies, metabolic myopathies
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
Frederick ataxia genetics:
AR triplet repeat expansion of Frataxin gene = absent
frataxin protein
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
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
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
