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Pg 55 Flashcards

1
Q

definition of anaemia?

A

Hb <100 g/L in infants (post neonatal)

Hb <110 g/L from 1-12 years old

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2
Q

What are the causes of anaemia in infants and children?

A

• Decreased RBC production
• Haemolysis (HSC, G6PD, SCD, Thalassemia, autoimmune)
• Bleeding (Meckle’s, vWD)
Combination = anaemia of premiturity

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3
Q

Causes of decreased RBC production

A

o Ineffective erythropoiesis: (Fe/ B9 deficiency, chronic disease).
o Red cell aplasia: Parvovirus B19, Diamond-blackfan anemia.

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4
Q

diagnostic approach to anaemia?

Reticulocytes => Low

A

= RBC aplasia (DB, BV) => BV serology and

bone marrow aspirate.

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5
Q

diagnostic approach to anaemia?

Reticulocytes high =>

A

High bilirubin = Haemolysis => Blood film and Hb
HPLC.

Low bilirubin => Ineffective erythropoiesis (Fe
deficiency) => blood film and serum ferritin.

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6
Q

INHERITED predisposing factors for thrombosis in children?

A

o Protein C & S deficiency
o Factor V and prothrombin mutations
o Anti-thrombin deficiency

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7
Q

ACQUIRED predisposing factors for thrombosis in children?

A 
o Catheter related
o DIC
o Hypernatremia
o Polycythaemia (CHD)
o SLE/ malignancy
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8
Q

How does bone marrow failure syndromes manifest?

A

o Bleeding
o Anaemia
o Infection

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9
Q

What are the 4 main components of normal haemostasis?

A

o Platelets
o Clotting factors
o Clotting inhibitors
o Fibrynolytic agents

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10
Q

What is Marfan’s syndrome?

A

• AD: Abnormal fibrillin
• General inspection: Tall, Thin, altered body proportions
• Hands: Tall slender fingers: Arachnodactyly
• Face: Upward lens dislocation, severe myopia.
• Mouth: High arched palate, crowded teeth.
• Chest: Pectus carinatum (Protruding), Pectus excavatum (Sunken),
Scoliosis.
• Mitral prolapse or aortic regurgitation, Pain on P-GALS, esp lower back
and legs, Generalised hypermobility (Beighton score 4 or above),
positive thumb and wrist sign. Flat feet.

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11
Q

Clunk on neonatal exam:

A

DDH

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12
Q

Nocturnal MSK pain:

A

growing or malignancy

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13
Q

Sudden limp in well child:

A

Perthe’s, or transient synovitis

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14
Q

Sudden limp in sick child:

A

Septic

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15
Q

Sudden limp in obese child:

A

SUFE

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16
Q

Stiffness and swelling:

A

JIA

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17
Q

Red eyes, hands and feet rash, joint swelling:

A

Kawasaki

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18
Q

Stiff back, tripod sitting:

A

Vertebral osteomyelitis

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19
Q

common causes and red flags of back pain?

A

Common:
Mechanical (Posture, heavy school back)

Red flags:
Tumour: Night symptoms, weight loss
Osteomyelitis: Infection: High Fever
QES features
Trauma
Young age
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20
Q

types of scoliosis?

A 
• Idiopathic (most common)
• Congenital (VACTERL)
• Secondary:
o NM imbalance: CP, MD
o Bone: NFM
o CTD: Marfan’s, JIA of knee with leg length discrepancy.
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21
Q

Scoliosis exam

A

o Unequal shoulder height, asymmetrical skin folds
o Bend down; if corrects, it is positional.
o Mild: Cosmetic issue => Bracing
o Severe: CR compromise and pain => Surgery

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22
Q

What are the types of Talipes?

A

• Positional: Can re-position
• Equinovarus: Fixed (Oligohydroamnios, NMD, SP, DDH). TX: Plaster
casting and bracing to avoid surgery

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23
Q

What are the causes of limp?

A 
Transient synovitis 
Reactive arthritis 
SUFE 
Perthe’s disease 
DDH 
Septic arthritis
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24
Q

What are the rules of growing pains?

A
  • Generalised symmetrical leg pain at night
  • Never at the start of the day
  • 3-12 yo.
  • No limp
  • Normal PGALS
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25
Q

What is hypermobility syndrome?

A 
• Stretchy joints
• Pain after activity
• Conservative Mgt.
• Beighton score (Thumb to wrist, bend fingers, elbows, touch ground,
knees)
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26
Q

definition, classification and Mgt of JIA?

A 
Persistent swelling for more than 6 weeks
< 16 yo
Oligo < 4
Poly 4 and above
Systemic: with fever and rash
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27
Q

JIA Mgt:

A

o NSAIDS & physio
o Intra-articular steroid injections
o Immunomodulators (MTX, Biologics)

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28
Q

JIA Clinical features:

A 
Swelling, pain, Gelling and stiffness, reduced ROM.
Oligo: Uveitis
Poly (Rh +): Nodules, symmetrical, RF +, nodules.
Enthesitis: Back pain, HLA-27 +
Psoriatic: Finger nail changes
Systemic: Fever, rash
Complications: 
joint damage
osteoporosis
anaemia
proteinuria
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29
Q

What is the clinical picture of Inborn Errors of Metabolism?

A
  • Serious unexplained illness.
  • Seizures
  • Developmental regression
  • Hepatosplenomegaly
  • Metabolic: Hypoglycaemia, marked lactic acidosis
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30
Q

How are IEM classified?

A
  • Metabolite accumulation
  • Energy metabolism
  • Complex organelles
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31
Q

Metabolite accumulation IEM eg

A

o Amino acids: Homocycteinuria
o Organic acids: Isovaleric acidemia
o Urea cycle.
o Carbohydrate: Galactosemia

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32
Q

Energy metabolism IEM eg

A

o Mitochondrial diseases (MELAS)
o Glycogen storage disorders (GSD1)
o Fatty acid oxidation (Carnitine transport defects)

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33
Q

Complex organelles IEM eg

A

o Lysosomal storage disorders (Mucopolysacroidosis)

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34
Q

What are the management principles of IEM?

A
  • Meds
  • Enzyme replacement
  • Diet
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35
Q

DDx child with purpura or easy bruising

non-thrombocytopenic

A

Henoch-Schonlein purpura
Sepsis
Trauma

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36
Q

DDx child with purpura or easy bruising

thrombocytopenic

A

ITP
Leukemia
DIC

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37
Q

Henoch-Schonlein purpura features

A

lesions confined to buttocks, extensor surfaces legs and arms, swollen painful knees and ankles, abdo pain, haematuria

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38
Q

Sepsis features

A

meningococcal or viral
fever septicemia meningitis
rash positive glass test
give parenteral penicillin

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39
Q

ITP features

A

2-10 yrs old
widespread petechiae
acute benign self resolving
DDx leukemia, aplastic anaemia

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40
Q

Leukemia features

A

malaise infection pallor hepatosplenomegaly lymphadenopathy

low Hb blasts on film confined to bone marrow

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41
Q

Hereditary spherocytosis

A 
AD
early severe jaundice
anaemia
splenomegaly
aplastic crisis
gallstones

Dx blood film
Tx folic acid splenectomy

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42
Q

G6PD deficiency

A

X linked
neonatal jaundice
acute hemolysis triggered by infection sulpha drugs fava beans naphthalene in mothballs

43
Q

Sickle cell features

A

AR
anaemia infection painful crises splenomegaly growth failure gallstones behavior and learning problems

bacterial infection
acute chest syndrome
strokes
priapism

44
Q

Sickle cell tx

A 
penicillin
immunisation
folic acid
hydration
hydroxycarbamide
bone marrow transplant
45
Q

Clinical features of B thalassemia major

A 
pallor
jaundice
bossing of the skull
maxillary overgrowth
splenomegaly
hepatomegaly
need repeat transfusions
46
Q

Complications of B thalassemia major

A

iron deposition
antibody formation
infection
venous access

47
Q

Four Qs to ask when assessing bleeding disorders

A

age of onset
FHx
Bleeding HX
Pattern of bleeding

48
Q

Four Qs to ask when assessing bleeding disorders

age of onset

A

neonate - haemophilias intracranial, after circumcision
toddler - haemophilias walking
adolescent - VW menorrhagia

49
Q

Four Qs to ask when assessing bleeding disorders

FHx

A

affected relatives all boys = hemophilia

50
Q

Four Qs to ask when assessing bleeding disorders

Bleeding HX

A

previous surgery
systemic disorders
anticoagulants
non-accidental injury

51
Q

Four Qs to ask when assessing bleeding disorders

Pattern of bleeding

A

mucus membrane bleeding = platelet, VW
Bleeding into joints = hemophilia
scarring, delayed hemorrhage = Marfans, osteogenesis imperfecta, factor 13 def

52
Q

Hemophilia A results

A

INCREASED APTT

DECREASED Factor VIII:C

53
Q

VW results

A

DECREASED VWF antigen

DECREASED RiCoF activity

54
Q

Bleeding disorder screening tests

A 
FBC, blood film
PT - factor 2, 5, 8, 10
APTT - factor 2, 5, 8, 9, 10, 11,  12
Thrombin time
Quantitative fibrinogen assay
D-dimers
Biochemical screen U+E, LFT
55
Q

DDx child with abnormal bleeding

A 
Vit K def
Liver disease
Thrombocytopenia
Hemophilia A or B
VW
56
Q

causes of nystagmus?

A

Cortical problem
eye problem
idiopathic

57
Q

criteria for ophthalmology referral in children?

A
  • Parental concern.
  • Not smiling by 6 weeks
  • Squint after 3 months
  • Abnormal eye movements and nystagmus
  • Absent red reflex or white reflex (Cataract or retinoblastoma).
58
Q

Sensorineural hearing loss

A

Rare, Antenatal cause, problem from cochlea onward,

irreversible, hearing aids => Cochlear implants.

59
Q

Conductive hearing loss

A

Common, Glue ear, Problem from external ear to cochlea,

reversible, Grommets +/- adenoidectomy

60
Q

ADHD Hx

A

• Hyperactivity (Can not sit still, wait for turn, interrupts and intrude, short
temper and poor friendships)
• Inattention (Distractibility, forgetfulness, disorganisation)
• > 1 setting
• > 6 years

61
Q

How is learning disability classified and managed?
General:

Specific:

A 
Based on IQ: 
Mild < 80
Moderate < 70
Severe <50
Profound <35
  • Dyspraxia: Co-ordination
  • Dyscalculia: Math.
  • Dyslexia: Reading
  • Dysgraphia: Writing
62
Q

causes for global delay

A

o Prenatal: Infection, vascular, Genes and teratogens.
o Perinatal: PREM, HIE
o Post-natal: Infection, vascular, MDT: Metabolic (Inc.
Hyperbilirubinaemia), deficiency (nutritional, anoxia,
hypoglycaemia) and trauma.

63
Q

causes for Motor delay:

A

Brain (CP),
spine (SB),
muscles (CM),
syndromes (DS)

64
Q

causes for SL delay:

A 
Global
hearing
anatomical (Cleft, oromotor incoordination in CP),
environmental
normal
65
Q

when do you correct the age when assessing development?

A

For premature infants before 2 years

66
Q

How and when is newborn hearing screening is done?

A

• By Auto acoustic emissions (OAE): Tests cochlear function; done first.
If abnormal or in baby unit then Auditory brainstem response (ABR) is
done: This tests the whole conduction pathway.
• Done before baby leaves hospital or within few weeks

67
Q

CP def

A

permanent disorder of motor function due to non-progressive

insult to the developing brain

68
Q

CP causes

A

o 80% Antenatal (TORCH infection, trauma, genetics, placental
insufficiency)
o 10% Perinatal: Prematurity, HIE
o 10% Postnatal: (Brain infection, trauma, seizures Kernicterus,
hypoglycaemia, hypoxia, IVH (3-4), PVL)

69
Q

3 types of CP

A 
The stiff (Spastic)
The Jerky (Dyskinetic)
The shaky (Ataxic)
70
Q

The stiff (Spastic)

A 
90%
UMN
Three subtypes:
• Hemiplegic:
• Diplegic
• Paraplegic
71
Q

Hemiplegic:

A

o Perinatal MCA infarct
o One side: Arm> leg
o Hemianopia, LD, seizures
o GMFCS 1-2 (Can walk)

72
Q

Diplegic

A

o PVL
o Legs > arms
o Spares the head
o CMFCS 1-3 (May need crutches, walker)

73
Q

Paraplegic

A

o Extensive damage to Peri-ventricular area
and cortex (IVH 3-4)
o Mixed with dystonia+ Subluxation and
scoliosis; GMFCS (4-5): Wheel chair.
Extensively involves the head: LD, seizures,
feeding, vision, hearing, speech=
Completely dependent

74
Q

The Jerky (Dyskinetic).

A

6%
Basal ganglia
HIE, Kernicterus

75
Q

The shaky (Ataxic)

A

4%
Cerebellum
Genetic

76
Q

CP Hx

A

Have they ever done this before, non-progressive

Motor: Mobility, Pattern of distribution, (Stiff, involuntary
movements or shaky and unstable on feet). Stiffness and
pain (Contractures), hip dislocation & scoliosis

Head to toe:
• Seizures
• Vision &amp; hearing
• Feeding and tube&amp; weight&amp; growth
• Speech
• Bowel and bladder
• LBSS (Learning, behaviour, sleep, school).
o Meds &amp; devices
o Monitoring
77
Q

CP exam

A 
PGHTR.
o Posture
o Gait and hand function
o Tone: Peripheral hypertonia and Truncal hypotonia
o Exaggerated DTR
78
Q

CP Mgt:

A

o Powered mobility device, walking aids. Botox, baclofen,
anticholinergic, Physio, Orthopaedics, OT.
o Antiepileptic
o SLT, feeding tube, dietician
o Hearing and vision assessment & aids
o Others (Special school, Psychologist, social worker)

79
Q

incidence of T21?

A

1:650 for all ages.

Exponential increases after 35, up to 1:37 at 40

80
Q

cytogenetic of T21?

A
  • Mostly: Meiotic non-dysjunction

* Rarely: Mosacism, unbalanced Robertsonian translocation

81
Q

T21 diagnosed?
Antenatal:

Postnatal:

A

o 1st US: Increased nuchal translucency > 3 mm.
o NIPT (cfDNA)
o Triple and Quadruple screen: AFP, HCG, Estriol+ Inhibin A.
Down High (High HCG and Inhibin).
o Amniocentesis or CVS => Karyotyping

o Blood sample => real time PCR, FISH (1-2 days).

82
Q

most common neonatal complications?

A
  • Hypotonia.
  • Murmur => AVSD.
  • GI (Duodenal atresia, HSP disease).
  • Congenital hypothyroidism.
83
Q

Syndrome Hx

A

• Diagnosis: Time, method, feelings, parental testing, genetic
counselling.
• P: Complications, gestation
• B: Method, weight, consciousness, Resuc,
• N: NICU, breathing, antibiotic, jaundice, hypoglycaemia, feeding,
vomiting, meconium, floppy, scans and heart, Heel-prick, Hearing and
vision.
• Development. Concerns then “What can they do with…”
• Growth: Chart, problems, diet.
• Active: See medical problems+ Meds and monitoring (home and
professionals) => PMSHX, SHX, and FHX+ Quick review (energy,
appetite, sleep, mood)

84
Q

Patau:

A

Trisomy 13:
Abnormal head and eyes, Cleft
Polydactylyl
Renal + cardiac defects.

85
Q

Edward:

A 
Trisomy 18
Prominent occiput
small mouth, chin and sternum
overlapping fingers, 
Rocker-bottom feet, 
cardiac and renal
defects
86
Q

turner syndrome?

A

Monosomy X: Short stature, webbed neck, shield chest, Lymphedema,
spoon-shaped nails, pigmented moles, cubits valgus. Streak ovaries,
delayed puberty, hypothyroidism. Renal and cardiac (coarctation)
defects, recurrent OM

TX: GH, oestrogen and egg donation

87
Q

clinical features of Kleinfelter syndrome?

A

Tall, acne, Gynychomastia, hypogonadism, infertile, autism, hyperactivity. Normal IQ but psychoeducational problems. TX = testosterone

88
Q

Quad test

A

Down and turner are High: High HCG and Inhibin.

Patau: AFPatau: AFP high (also high in NTD and abdominal wall
defects).

Edward is HEllow: Low HCG and Estriol

89
Q

Knudson two hit hypothesis? Give an example?

A

AD inherited cancer genes need two abnormal copies, RB

90
Q

clinical features of Noonan syndrome?

A 
• AD
• Phenotype similar to turner but, has characteristic phenotype and affect
both genders
• Trident hair line and pectus excavatum
• Occasional mild learning difficulties
• CHD (Pulmonary stenosis and ASD).
91
Q

clinical features of William syndrome?

A

• Sporadic mutation.
• Face: Puffy eyelids, full checks, Wide mouth and full lips, widely
spaced crooked teeth.
• Transient neonatal Hypercalcemia
• CHD: Supra-valvular aortic stenosis
• Developmental delay and learning difficulty (esp. visual-spatial tasks),
very good in language and root learning, extremely friendly and
outgoing and takes extreme interests in people, although anxiety and
phobias are common.
• Others (GIT, UT, MSK, short)

92
Q

clinical features of fragile-X syndrome?

A
  • Second most common genetic cause of ID (Mean IQ= 50).
  • Macrocephaly and macroorchidism.
  • Prominent ears, long face and coarse facial features
  • Mitral valve prolapse
  • Scoliosis and joint laxity
  • Autism and hyperactivity
93
Q

PWS is when

A

the Father gives a bad gene. (Mum already imprinted).
Hypotonia, feeding difficulties, developmental delay, learning difficulty,
hyperphagia and obesity

94
Q

Angelman is when

A

mum gives a bad gene (Father already imprinted).

Severe cognitive impairment, ataxia, epilepsy, happy-poppy.

95
Q

What is uniparental disomy?

A

When inherit imprintable genes from one parent and silence them both.
o PWS: No paternal copies
o Angleman: No maternal copies

96
Q

clinical features of Di-George syndrome?

A

Sub-microscopic deletion of Ch. 22 (22q11)
• Hypocalcaemia (Spasms and seizures)
• T cell deficiency (Recurrent, complicated infections)
• Recurrent OM and CHL (Audiology)
• CHD (VSD and interrupted aortic arch) (Repaired in neonatal period)
• Facial features (Prominent ears, Thin upper lip and short phlithrum)
• Velopharyngeal incompetence => Indistinct speech (plastic surgery)
• Developmental delay
• Educational need assessment and special schooling
• Behaviour (Ritualistic and obsessional):

97
Q

Malformation =

A

Primary structural defect e.g. SP

98
Q

deformation =

A

was normal: Hypo plastic lung in potter sequence.

99
Q

Disruption =

A

Disturbed by teratogenicity: abnormal limbs and thalidomide

100
Q

Dysplasia =

A

Abnormal cell migration and function: Bone dysplasia

101
Q

Karyotyping looks at

A

Chromosomal number or macro deletions

102
Q

FISH looks at

A

Micro deletions

103
Q

Microarray + NGS looks at

A

whole genome (Target free).

104
Q

PCR looks at

A

Amplify and sequence a target

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