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Internal Medicine > Paediatrics > Flashcards

Paediatrics Flashcards

1
Q

Vaccine adverse reactions

A

Local: induration, tenderness, redness, swelling
Systemic: fever rash, irritability
Allergic: urticaria, rhinitis, anaphylaxis

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2
Q

Growth parameters infants

A

Up to 10% weight loss in first week of life, should regain by second week.
2x birth wt by 4-5 months
3x birth wt by 1yr
4x birth wt 2yrs

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3
Q

Fine motor milestones

A

1m: hands fisted
2m: pulls clothes
4m: reaches for objects
6m: grasp, transfer*
9m: early pincer*
12m: neat pincer, throws ball
18m: tower of 3, scribbling
24m: tower of 6, line
3yrs: circle, turns individual pages
4yrs: cross, scissors
5yrs: shapes, prints name

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4
Q

Gross motor milestones

A

1m: turns head
2m: holds head up
4m: lifts head and chest while prone
6m: tripod sit
9m: sits without support, pulls to stand*
12m: stands without support, walks*
18m: runs
24m: 2 feet up stairs, kicks
3yrs: tricycle, 1 foot up stairs
4yrs: hops, 1 foot down stairs
5yrs: skips

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5
Q

Speech and language milestones

A

1m: cries
2m: coos
4m: turns head to sound*
6m: babbles*
9m: imitates words
12m: 1-2 words, points to wants
18m: 10 words, simple commands
24m: 2-3 word phrases, 2 step commands
3yrs: >3 words in sentence, colours, counts to 10
4yrs: speech intelligible

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6
Q

Social skills milestones

A

1m: calms when comforted
2m: smiles
4m: laughs, follows movement
6m: stranger anxiety, beginning of object permanence*
9m: plays games
12m: responds to name
18m: points to interest
24m: parallel play
3yrs: knows age, sex, make believe
4yrs: cooperative play, toilet trained by day
5yrs: Separates from caregiver easily

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7
Q

Pediatric development milestones 1-4yrs

A

1 yr: single word
2 yrs: 2 word sentences
3 yrs: 3 word combos, rides tricycle
4 yrs: counts 4 objects

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8
Q

Developmental red flags

A

Gross motor: 18m not walking
Fine motor: <10m handedness
Speech: 18m <3 words
Social: 3m not smiling, 15-18m not pointing

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9
Q

Nutrition requirement

A

1-10kg: 100 cal/kg/d
10-20kg: 50 cal/kg/d
>20kg: 20 cal/kg/day

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10
Q

Dietary recommendations

A

Supplementation: vit K, vit D, iron, fluoride may be required
Solid introduction: at 6 months, 2-3 new foods per weeks

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11
Q

Breast feeding

A

Advantages: easily digested, immunologic (IgA and immune cells), good gut bacteria, bonding, economical

Contraindicated: chemo/radiotherapy, HIV/AIDS, untreated TB, alcohol, fat soluble medications

Complications: breast feeding jaundice, inadequate intake

Signs of inadequate intake
<6 wet nappies/d
<7 feeds/d
Weight loss >10%
Lethargic, sleeping through the night
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12
Q

Breath holding spells

A

Starts in children 6m-4yrs. Child is usually provoked and holds breath, spontaneously resolves or loses consciousness.

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13
Q

Enuresis

A

Involuntary urinary incontinence by day/night in child >5yrs.

DDx

  • UTI
  • Neurologic pathology

Primary nocturnal enuresis: can be normal up to age of 7.

  • Time and reassurance
  • Behaviour modification: limit fluids before bed, voiding prior to sleep
  • Conditioning: wet alarm
  • Medications: desmopressin

Secondary enuresis: develops after a child has sustained bladder control for >6m.

  • Stress, anxiety
  • Secondary to organic cause: UTI, DM, DI, neurogenic bladder, CP, sickle cell disease

Diurnal enuresis: daytime wetting.

  • Micturition deferral, psychologic stressors
  • Structural anomalies: neurogenic bladder, ectopic ureteral site
  • UTI
  • Constipation
  • CNS disorders
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14
Q

Encopresis

A 
Fecal incontinence in a child >4yrs
Causes:
- Retentive encopresis (chronic constipation)
- Hirschsprung disease
- Hypothyroidism
- Hypercalcemia
- Spinal cord lesions
- Anorectal malformations
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15
Q

Failure to thrive

A

Definition: <3rd percentile, falls across 2 major percentile curves.
Hx: dietary and feeding hx, bowel habits, family height, weight.
Ex: height, weight, head circumference, arm span, U/L segment ratio, dysmorphism
Investigations: FBC, blood film, U&E, TSH, urinalysis, bone age, karyotype

Organic FTT (10%)

  • Insufficient feeding: insufficient breast milk production, vomiting, weak suckling, anorexia
  • Inadequate absorption: malabsorption (celiac, CF, pancreatic insufficiency), loss from GI tracts (chronic diarrhea)
  • Renal loss: inborn errors of metabolism, endocrine disorders
  • Increased energy requirements: CF, cardiac disease, endocrine, malignancy, chronic infections
  • Decreased growth potential: chromosomal abnormalities

Non-organic FTT:
- Malnutrition, inadequate nutrition, poor feeding technique

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16
Q

Infantile colic

A

Unexplained paroxysms of irritability and crying for >3h/d, >3d/wk for >3wks in an otherwise healthy baby. In under 3m.

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17
Q

SIDS

A

Prevention:

  • Sleeping on back
  • Supervised tummy play
  • Avoid overheating
  • Appropriate infant bedding
  • No smoking
  • Avoid bed sharing
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18
Q

Child abuse and neglect

A

Physical abuse
Sexual abuse
Neglect

Management:

  • Clear documentation
  • Report all suspicions to CYFs, request emergency visit if imminent risk to child.
  • Hospitalize for treatment as indicated
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19
Q

Adolescent assessment

A 
Home
Education/Employment
Eating
Activities
Drugs
Sexuality
Suicide and depression
Safety/violence
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20
Q

Fetal circulation change at birth

A

First breath decreases pulmonary resistance, increases pulmonary flow and LA pressure -> foramen ovale closure
Separation of placenta -> ductus venosus closure
Increased oxygen concentration, decrease prostaglandins -> ductus arteriosus closure

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21
Q

Congenital heart disease

A 
Acyanotic - blood passes through the lungs.
L=>R shunt:
- ASD
- VSD
- PDA
- AVSD
Obstructive:
- Coarctation
Aortic stenosis
Pulmonic stenosis
Cyanotic - blood bypasses the lungs.
R=>L shunt:
- Teratology of Fallots
- Ebstein's anomaly
Other:
- TGA
- Total anomalous pulmonary venous drainage
- Tricuspid atresia
- Hypoplastic left heart syndrome
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22
Q

Atrial septal defect (ASD)

A

3 types:

  • ostium primum
  • ostium secundum (most common)
  • sinus venosus

80-100% spontaneous closure rate if ASD <8mm. May lead to CHF and pulmonary HTN if remains patent.
Surgical treatment with catheter closure at 2-5yrs

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23
Q

Ventricular septal defects (VSD)

A

Most common congenital heart defect.

Small VSD (majority)

  • Asymptomatic
  • Systolic murmur at LLSB
  • Spontaneous closure.

Moderate-large VSD

  • CHF by 2m, late secondary pulmonary HTN if untreated
  • Delayed growth and exercise tolerance, recurrent URTI
  • Systolic murmur LLSB, mid-diastolic rumble at apex.
  • Treatment of CHF and surgical closure by 1yr
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24
Q

Patent ductus arteriosus

A

Functionally closes in the first 15hs of life. Can be delayed in premature infants.

  • Spontaneous closure in preterm, less common in term
  • Asymptomatic or apneic/bradycardic spells, poor feeding.
  • Tachycardia, continuous machinery murmur L infraclavicular.
  • Indomethacin (PGE2 antagonist), surgical closure
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25
Q

Coarctation of the aorta

A

Commonly associated with bicuspid valve and Turner syndrome.

  • Asymptomatic
  • Radiofemoral delay
  • May present with shock if severe and PD closes
  • PGE2 until surgical corrective measures
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26
Q

Aortic stenosis

A

4 types:

  • Valvular 75%
  • Subvalvular 20%
  • Supravalvular
  • Idiopathic hypertrophic subarotic stenosis
  • Asymptomatic but associated with CHF
  • Systolic ejection murmur at RUSB with ejection click
  • Balloon valvuloplasty
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27
Q

Pulmonary stenosis

A

Associated with Tetratology of Fallot, congenital rubella, Noonan syndrome.

  • Asymptomatic to CHF
  • systeolic ejection murmur at LUSB, pulmonary ejection click
  • Surgical repair
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28
Q

Tetralogy of Fallots

A

Features:

  • VSD
  • RV outflow tract obstruction
  • Over-riding aorta
  • RV hypertrophy

Cyanosis during exertional states with rapid and deep breathing.

  • Single loud S2, systolic ejection murmur LSB
  • CXR: boot shaped heart with decreased pulmonary vasculature.
  • O2, knee-chest position, fluid bolus, morphine/propanolol, surgical repair at 4-6m
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29
Q

Transposition of great arteries

A

Survival dependant on mixing through PDA/septal defects.

  • Rapidly progressive severe hypoxemia, unresponsive to O2 therapy.
  • Prostaglandin infusion, balloon atrial septostomy
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30
Q

Hypoplastic left heart syndrome

A

Most common cause of CHD in the first month of life. LV hypoplasia with systemic hypoperfusion, dependent on patent PDA. Closure of PDA results in circulatory shock and metabolic acidosis.

  • Intubate
  • IV PGE2
  • Surgical palliation
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31
Q

Congestive heart failure

A

Infant: feeding difficulties, early fatigability, diaphoresis while sleeping, respiratory ditress lethargy, FTT
Child: decreased exercise tolerance, fatigue, decreased appetite, FTT, respiratory distress, frequent URTI

Findings:
Tachycardia, tachypnea, cardiomegaly, hepatomegaly.
FTT
Dysmorphic features

CXR: cardiomegaly, pulmonary venous congestion

Management:
General: sitting, O2, Na and water restriction, increased caloric intake
Pharmacologic: diuretics, ACEi
Curative: correction of underlying cause

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32
Q

Dysrhythmias

A

Sinus arrhythmia - variations with respiration

Premature atrial contractions - normal, electrolyte imbalance, hyperthyroidism, digitalis toxicity

Premature ventricular contractions - common in adolescents and benign if single.

Supraventricular tachycardia - most frequent and caused by re-entry via accessory connection. Vagal maneuvers, valsalva, adenosin, DC cardioversion.

Complete heart block - often diagnosed in utero, maternal SLE

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33
Q

Innocent murmurs

A

Asymptomatic
Systolic ejection murmur
Low grade <3/6
Murmur changes with position and respiration

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34
Q

Global developmental delay

A

Performance significantly below average in 2 or more areas of development.

Etiology

  • CNS abnormalities (meningitis, brain malformation, trauma)
  • Sensory deficits (hearing, vision)
  • Environmental (psychosocial neglect, lead exposure, antenatal drug)
  • Metabolic disorders (inborn errors of metabolism, hypothyroidism)
  • Obstetrical (prematurity, hypoxic ischemic encephalopathy, TORCH infections)
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35
Q

Fetal alcohol syndrome

A

Growth: low birth weight, decelerating weight
Facial: short palpebral fissures, flattened philtrum, thin upper lip, flat midface
CNS: microcephaly, ADHD, learning disabilities

36
Q

Intellectual disability

A

<18yrs with limitations in both intelligence and adaptive skills

Causes:
Prenatal - TORCH infections, fetal alcohol syndrome
Genetic - DS, Fragile X, PKU, congenital hypothyroidism, CNS abnormalities

37
Q

Short stature

A

Height <3rd percentile

IUGR
- Chromosomal (Down’s Turner’s)

No IUGR
- Disproportionate
> skeletal dysplasia
- Proportionate
> Normal growth velocity: constitutional growth delay, familial
> Slow growth velocity: endocrine (GH deficiency, Hypothyroidism, hypercortisolism, hypopituitarism), chronic disease, psychosocial neglect

38
Q

Congenital hyperthyroidism

A

Results from transplacental passage of maternal thyroid stimulating antibodies from mother with Grave’s.
Features: tachycardia, heart failure, goitre, irritability FTT
Tests: TSH, T4
Management: propylthiouracil, B-blockers

39
Q

Congenital hypothyroidism

A

Causes: maternal antibody mediated, iodine deficiency, prenatal exposure to antithyroid drugs.
Features: prolonged jaundice, constipation, lethargy, poor feeding, macroglossia
Tests: TSH, T4
Management: thyroxine

40
Q

Ambiguous genitalia

A

Disorders of Sex Differentiation

46XY DSD - inborn error of testosterone biosynthesis or Leydig cell hypoplasia, 5-a-reductase deficiency, androgen receptor deficiency or insensitivity.

46XX DSD - virilising congenital adrenal hyperplasia, maternal source of androgens.

Ovotesticular DSD - both ovarian follicles and seminiferous tubules in the same patient.

Investigations: karyotype and genetic workup, 17-OH-progesterone, androgens, FSH, LH, abdominal imaging

41
Q

Normal puberty

A

Increase pulsatile release of GnRH.

Females 8-13yo
- Thelarche
- Pubarche
- Growth spurt
- Menarche 12.5yrs
Early puberty common, late puberty rare

Males 9-14yo
- Testicular enlargement
- Penile enlargement
- Pubarche
- Growth spurt
Early puberty uncommon, late puberty common.
Gynecomastia is seen in 50% of male during puberty.

42
Q

Tanner Breast staging

A

1) Nipple elevation
2) Breast and nipple elevated
3) Enlargement of breast and areolar
4) Areolar and nipple form secondary mound
5) Mature, nipple projects, no secondary mound

43
Q

Tanner Female Genital staging

A

1) No hair, prepubertal
2) Small amount of hair along labia majora
3) Darker coarser hair sparsly over pubis
4) Adult type hair, no extension to medial thighs
5) Mature distribution with spread to medial thighs

44
Q

Tanner Male Genitalia staging

A

1) No hair, prepubertal
2) Small amount of hair, enlargement of testes and scrotum, reddening of scrotal skin
3) Darker coarser hair sparsly over pubis, lengthening of penis, further scrotum enlargement.
4) Adult type hair, no extension to medial thighs, increase penile circumference, darkening of scrotal skin
5) Mature distribution with spread to medial thighs, adult size

45
Q

Precocious puberty

A

<8yo for females and <9yo for males.

Females 90% idiopathic
Males 50% pathologic
Central GnRH dependent - hypergonadotropic hypergonadism, premature activation of HPG axis
Peripheral GnRH independant - hypogonadotropic hypergonadism - adrenal disorders, testicular/ovarian tumour

Tests: bone age, serum hormone levels, DHEA, 17-OH progesterone

46
Q

Delayed puberty

A

Lack of testicular enlargement by 14yo for males and lack of breast development by 13yo for females OR absence of menarche by 16yo

Constitutional delay more common in males, more suggestive of pathology in females.

Causes:
Central causes - constitutional delay in activation of HPA axis, hypogonadotrophic hypogonadism
Peripheral causes - hypergonadotrophic hypogonadism

Tests: bone age, serum hormone levels, thyroid levels, LFTs,

47
Q

Neonatal vomiting - non-bilious

A

Tracheoesophageal fistula

  • vomiting soon after birth, respiratory distress, coughing, inability to feed
  • inability to pass NG tube, CXR
  • Rx: early surgical repair

Pyloric stenosis

  • projectile vomiting after feeds, dehydrated, palpable mass, hungry
  • US of pylorus
  • Rx: correction of metabolic alkalosis, surgical pyloromyotomy

GERD

  • fussiness after feeds, spilling, poor weight gain
  • trial of acid suppression
  • Rx: thickened and smaller feeds, ranitidine, omeprazole

Sepsis

  • fever, lethargy, tachycardia, tachypnea, widening pulse pressure
  • FBC, culture (blood, urine, CSF), CXR

Inborn error of metabolism

  • poor feeding, FTT, jaundice, hepatosplenomegaly
  • U&E, ABG, lactate
48
Q

Neonatal vomiting - bilious

A

Duodenal atresia

  • bilious vomiting, associated with Down syndrome, jaundice
  • AXR
  • Rx: decompression with NG tube, correct metabolic abnormalities, surgical correction

Malrotation with volvulus

  • bilious emesis, abdominal distension, pain, bloddy stool
  • AXR
  • NG tube decompression and surgical correction

Hirshsprung disease

  • bilious emesis, abdominal distension, pain, failure to pass stools
  • AXR, rectal biopsy
49
Q

Children and adolescence vomiting

A

Gastroenteritis

  • diarrhea, fever, sick contact, recent travel
  • FBC, stool culture

Appendicitis

  • periumbilical discomfort that localises to RLQ, fever, anorexia
  • abdominal US

Intussusception

  • colicky progressive abdo pain, bloody stool
  • abdominal US

Non-GI infection
- fever, other symptoms

Increased intracranial pressure

  • nocturnal wakening, progressive recurrent headache worse with valsalva
  • brain CT without contrast

Toxic ingestion
- varies by substance

Pregnancy

  • amenorrhea, morning sickness, bloating, breast tenderness
  • pregnancy test

Cyclic vomiting
- >3 self-limited episodes of vomiting with intervals between episodes

50
Q

Diarrhea

A

Pathophysiology

  • Osmotic: lactose intolerance
  • Secretory: increased secretion of Cl and water
  • Malabsorption: decreased GI surface area
51
Q

Acute diarrhea

A

<2 weeks

Viral

  • rotavirus
  • enteric adenovirus

Bacterial

  • salmonella
  • campylobacter
  • shigella
  • E. coli
  • yersinia
  • C. difficile

Parasitic

  • giardia
  • entamoeba hisolytica

Non-infectious

  • antibiotic induced
  • Hirschsprung’s disease
  • toxin ingestion
52
Q

Chronic diarrhea with no FTT

A

GI infection
Toddler’s diarrhea - most common cause in infancy, onset 6-36m, ceases between 2-4yrs
Lactase deficiency - lactose intolerance, can be post viral/bacterial infection
IBS
Chronic constipation

53
Q

Chronic diarrhea with FTT

A

Disaccharidase deficiency
Milk protein allergy - dairy intolerance, remove dairy from mother’s diet if breast feeding.
Cystic fibrosis
Celiac disease - usually 6-24 months with introduction of gluten into the diet.
IBD
Endocrine/neoplastic

54
Q

Constipation

A

<3 stools/week

Functional constipation

  • lack in fiber, poor fluid intake or behavioural
  • management with laxsol for clean out and maintenance with dietary fibers or stool softeners

Hirschsprung’s disease

  • failure or normal innervation of the distal colon by myenteric plexus, colon remains contracted
  • suspicion if no meconium in first 24h, palpable stool but tight empty rectum, intermittent diarrhea
  • AXR shows no air in rectum, rectal biopsy is definitive
  • non-surgical (increase fiber and fluid), surgical re-anastomosis

Endocrine

  • hypothyroidism
  • DM
  • hypercalcemia

Neurologic
- spina bifida

Anatomic

  • bowel obstruction
  • anus anomalies

Drugs:

  • opioids
  • lead
  • chemotherapy
55
Q

Acute abdominal pain - GI etiology

A 
Gastroenteritis, malabsorption
Incacerated hernia, intussusception
Apendicitis, Meckel's diverticulitis
Malrotation, volvulus
IBS, mesenteric adenitis
Cholecystitis, pancreatitis
Somatization
Constipation
Ileus
56
Q

Acute abdominal pain - non-GI etiology

A 
UTI
Henoch-Schonlein Purpura
Sickle cell crisis
Pneumonia
DKA
Nephrolithiasis
Gynaecological (ectopic, PID, menstruation)
Testicular/ovarian torsion
57
Q

Chronic abdominal pain - red flags

A
  • Age <5yrs
  • Fever
  • Localisez pain away from midline
  • Anemia
  • Rectal bleeding
  • Rash
  • Pain awakens child at night
  • Travel history
  • Prominent vomiting/diarrhea
  • Weight loss/FTT
  • Joint pain
58
Q

Abdominal mass

A

Renal

  • Benign: hydronephrosis, PCKD, hamartoma
  • Malignant: nephroblastoma (Wilm’s), renal cell carcinoma

Adrenal
- Malignant: neuroblastoma

Ovarian

  • Benign: cysts
  • Malignant: tumours

Other

  • Benign: splenomegaly, pyloric stenosis, abdominal hernia, teratoma, fecal impaction
  • Malignant: lymphoma, rhabdomyosarcoma, retroperitoneal sarcoma.
59
Q

Trisomy 21

A

Down syndrome
1:1500 in 20’s, 1:20 by 45.

Features:

  • Head: 3rd fontanelle
  • Face: upslanting eyes, refractive errors, low set ears, frequent AOM, small nose, flat nasal bridge
  • Skeletal: short stature, joint hyperflexibility
  • CNS: hypotonia, low IQ, early onset of Alzheimer’s
  • Internal organs: Heart defects (AVSD), GI atresia, TE fistula, crytorchidism,
  • Associations: leukaemia 1%, polycythemia, hypothyroidism, celiac’s
Investigations:
Chromosomal analysis
Echocardiogram
Thyroid and celiac's screen
Hearing and vision assessment
60
Q

Trisomy 18

A

Edwards syndrome

Features:

  • Head: microcephaly
  • Face: microopthalmia, iris coloboma, low set ears, cleft lip/palate, small mouth
  • Skeletal: short stature, polydactyl
  • CNS: hypertonia, profound intellectual disability
  • Internal organs: heart defect (VSD, PDA, ASD), hernia, PCKD, crytorchidism.

Prognosis: 44% die in first month, 10% survive past 1 yr

61
Q

Trisomy 13

A

Patau syndrome

  • Head: microcephaly
  • Face: small eyes, low set ears, 60-80% cleft lip/palate.
  • Skeletal: severe growth retardation, polydactyly
  • CNS: seizures, deafness, severe developmental delay
  • Internal organs: heart defect 80% (VSD, PDA, ASD), PCKD

Prognosis: 90% die by 1 yr from FTT

62
Q

Fragile X syndrome

A

X-linked with genetic anticipation. Most common heritable cause of intellectual disability in boys

Features:

  • Prominent jaw, forehead, nasal bridge, long face, protuberant ears, macroorchidism
  • Mild to moderate intellectual disability
  • Carrier females at risk of premature ovarian failure
  • Complications: seizures, scoliosis, mitral valve prolapse
63
Q

Klinefelter’s syndrome

A

47 XXY, 48 XXXY

Features:

  • Tall slim, underweight
  • Pubertal delay, gynaecomastia, lack of facial hair
  • Mild intellectual disability
  • Infertile and have increased risk of germ cell tumours and breast cancer
64
Q

Turner syndrome

A

45 XO

Features:

  • Short stature, webbed neck, broad chest, widely spaced nipples
  • Lymphedema of hands and feet, cystic hygroma, lung hypoplasia in newborn
  • Coarctation of aorta, bicuspid aortic valves, renal abnormalities and increased risk of HTN
  • Mildly deficient to normal intelligence
  • Infertile, primary amenorrhea, impaired development of secondary sexual characteristics
65
Q

Noonan syndrome

A

46 XX or 46 XY AD with variable expression

Features:

  • Short stature, webbed neck, triangular face, low set ears, pectus excavatum
  • Right sided CHD, pulmonary stenosis
  • Moderate intellectual disability in 25%
  • Delayed puberty
66
Q

DiGeorge Syndrome

A

Microdeletions of chromosome 22q1

"CATCH 22"
Cyanotic CHD
Anomalies: micrognathia, low set ears
Thymic hypoplasia, recurrent infections
Cognitive impairment
Hypoparathyroidism, hypocalcemia
22q11 microdeletions
67
Q

Prader-Willi syndrome

A

Lack of paternally imprinted genes on 15q11

"H3O"
Hypotonia/weakness
Hypogonadism
Hyperphagia
Obesity
68
Q

CHARGE syndrome

A 
Coloboma
congenital Heart defects
choanal Atresia
mental Retardation
GU anomalies
Ear anomalies
69
Q

VACTERL association

A 
Vertebral dysgenesis
Anal atresia
Congenital heart defect
Tracheo-esophageal fistula
Renal anomalies
Limb deformities
70
Q

Duchenne muscular dystrophy

A

Progressive skeletal and cardiac muscle degeneration due to muscle fibre fragility. X-linked recessive

Features:

  • Proximal muscle weakness by 3, Gower’s sign, waddling gait, toe walking
  • Wasting of thighs and decreased reflexes
  • Cardiomyopathy

Management:

  • Supportive frames, prevent obesity.
  • Surgery for scoliosis
  • Steroids
  • Wheelchair bound by age 12, flexion contractures, scoliosis, osteopenia of immobility, respiratory failure, CHF
71
Q

Phenylketonuria

A

AR disease. Deficiency of phenylalanine hydroxylase, prevents conversion of phenylalanine to tyrosine.

Features:

  • Baby norma lat birth, then develops musty odour, eczema, hypertonia, tremors and mental retardation
  • Hypopigmantation

Management:
- dietary restriction of phenylalnine

72
Q

Galactosemia

A

AR disease. Most commonly deficiency of galactose-1-phosphate uridyltransferase leading to inability to process lactose/galactose.

Features:
- Liver and renal failure, jaundice, FTT, cataracts

Management:
- elimenation of galactose from diet, soy-based diet

73
Q

Anemia

A

Decreased reticulocytes (production problem)

  • Microcytic: IDA, thalassemia, anemia of chronic disease, lead poisoning, sideroblastic anemia
  • Normocytic: anemia of chronic disease, renal failure, marrow infiltration
  • Macrocytic: megaloblastic, marrow failure
Increased reticulocytes (hemolysis)
- Intrinsic to RBC
  \+ Hemoglobinopathies: sickle cell, thalassemia
  \+ Membrane problem: hereditary spherocytosis
  \+ Enzyme: G6PD deficiency
- Extrinsic RBC
  \+ Immune hemolysis: ITP, AIHA
  \+ Non-immune hemolysis: TTP, HUS
74
Q

Iron deficiency anemia

A

Most common cause of anemia in childhood, full term infants exhaust iron reserves by 6m. Also commonly diagnosed 11-17 years due to periods of rapid growth.

Features (severe):

  • Behavioural and intellectual deficiencies
  • Angular chelitis, glossitis, koilonychia

Prevention and management:

  • Iron supplementation of breast milk at 4-6m
  • Early introduction of red meat and iron-rich veggies
  • Oral iron therapy for replacement
75
Q

Sickle cell disease

A

Presentation:

  • At 5-6months after fall in fetal Hb
  • Anemia, fever, jaundice, splenomegaly, crisis
  • Later develop functional asplenia by age 5 due to auto-infarction.
  • Long term complications are growth delay, bony abnormalities, gallstones, retinopathy

Crises types:

  • Vaso-occlusive crisis due to obstruction of blood vessels by sickled cells, presents as fever and pain in any organ (long bones, chest, abdomen, CNS, dactylitis, priapism)
  • Aplastic crisis due to depression of erythopoiesis associated with parovirus B19
  • Acute splenic sequestration due to sudden massive pooling of RBC’s in the spleen

Management:

  • Acute crisis: supportive and symptomatic treatment (fluids, oxygen, analgesia, antibiotics), RBC exchange transfusion if persistent.
  • Chronic: early aggressive treatment of infections, vaccination against encapsulated organisms (pneumococcal, meningococcal, H. influenza), prophylatic antibiotics
76
Q

Immune thrombocytopenic purpura

A

Most common cause of thrombocytopenia in childhood. Caused by autoantibodies that bind to platelet membranes, destruction of platelets.

Features:

  • 50% present 1-3wks after viral illness
  • Sudden onset of petechiae, purpura, epistaxis in otherwise well child

Tests: thrombocytopenia, normal RBC, WBC.

Management:

  • Observation
  • Treatment with IVIG or prednisone if mucosal or internal bleeding.
77
Q

Oncology

A

Newborns: Wilm’s tumour, retinoblastoma

Infancy and childhood: leukaemia, neuroblastoma, Wilm’s tumour, retinoblastoma

Adolescence: lymphoma, gonadal tumours, bone tumours

78
Q

Leukemia

A

Mean age of diagnosis 2-5yrs: ALL 75%, AML 10%, CML 5%.

Features:

  • Infiltration of leukemic cells into bone marrow results in bone pain, and bone marrow failure
  • Infiltration into tissues: lymphadenopathy, hepatosplenomegaly, CNS manifestations

Prognosis:

  • 80-90% 5yr event-free survival for ALL, 50% 5yr survival for AML
  • risks stratified into standard risk and high risk based on WBC and age.
79
Q

Lymphoma

A

Hodgkin’s lymphoma

  • peak at age 15-34 and 50+
  • most common presentation is persistent, painless, firm, cervical or supraclavicular lymphadenopathy

Non-Hodgkin’s lymphoma

  • incidence peak 7-11 yrs
  • catergorised: lymphoblastic, large cell, Burkitt’s.
80
Q

Wilms’ tumour (nephroblastoma)

A

Usually diagnosed between 2-5yrs, most common primary renal neoplasm of childhood.

Features:

  • 80% asymptomatic, unilateral abdominal mass
  • hypertension, gross hematuria, abdominal pain vomiting

Associated congenital abnormalities:

  • WAGR syndrome (Wilms, Aniridia, Genital anomalies, Retardardation)
  • Beckwith-Wiedemann syndrome
  • Denys-Drash syndrome

Management:

  • staging + nephrectomy
  • chemotherapy
  • 90% long-term survival
81
Q

Neuroblastoma

A

Most common cancer occurring in the first year of life. Arises from adrenal medulla, sympathetic chain.

Features:

  • Location features: thoracic (dyspnea, Horner’s), abdomen (palpable mass), spinal cord compression
  • Metastases are common at presentation
  • Paraneoplastic: HTN, palpitations, sweating, diarrhea, FTT

Investigations:

  • VMA, HVA levels
  • CT or MRI for staging
82
Q

Rhabdomyosarcoma

A

Third most common extracranial solid tumour of children.

Features:

  • Firm painless mass
  • Common sites of origin are structures of the head and neck, GU tract and extremities
  • Metastases to lung, bone marrow and bone
83
Q

Lymphadenopathy

A

Benign: fluctuance, warmth, tenderness
Malignant: firm, discrete, non-tender, enlarging, immobile + suspicious mass

DDx:
- Infection:
  \+ Viral: URTI, EBV, CMV, adenovirus
  \+ Bacterial: S. aureus, GAS, anaerobes, TB, cat scratch
  \+fungal, protozoa, rickettsia
- Autoimmune- RA, SLE
- Malignancy
84
Q

Acute otitis media

A

Middle ear effusion/inflammation. Peak incidence 6-15 months

Etiology

  • Structure: Eustachian tube dysfunction
  • Bacterial: S. pneumonia, H. influenza, M. catarrhalis, GAS, S aureus
  • Viral: RSV, influenza, parainfluenza, adenovirus

Risk factors:

  • Young age, family hx, prematurity, orofacial abnormalities, immunodeficiencies, Down Syndrome, race and ethnicity.
  • Lack of breast feeding, day care attention, household crowing, second hand smoke, pacifier use

Management:

  • Observe 48-72hrs without abx if >6m as most will self resolve
  • Amoxicillin +/- clavulanate for 10d
  • Symptomatic relief with paracetamol and NSAIDs

Complications:

  • Extracranial: hearing loss, TM perforation, extension of infection, cholesteatoma, facial nerve palsy, vestibular dysfunction
  • Intracranial: meningitis, epidural and brain abcess, subdural empyema, lateral and cavernous sinus thrombosis, carotid artery thrombosis
85
Q

HIV infection

A

20-30% risk of vertical transmission in untreated HIV women, <1% with antiretroviral treatment.
Transmission: transplacental, maternal blood, rexposure to secretions during childbirth, breast milk.

Risks:

  • Infection by candidiasis, chronic interstitial pneumonitis, Pneumocystis jiroveci
  • Encephalopathy
  • Hepatosplenomegaly

Management:

  • HAART
  • prompt treatment of infections, prophylactic treatment and immunizations
86
Q

GAS infections and complications

A

Strept throat, AOM, sinusitis, cervical adenitis, mastoiditis, retropharyngeal/peritonsillar abcess, sepsis.

Labs: GAS throat culture, rapid Ag detection, anti-streptolysin O titres (ASOT)

Immune mediated complications

  • Scarlet fever: delayed-type hypersensitivity reaction to pyrogenic exotoxin of GAS (fever, sore throat, strawberry tongue, sandpaper rash)
  • Rheumatic fever: antibody cross-reactivity following GAS (myocarditis, conduction aberrations, valvulitis, pericarditis, valvular heart disease)
  • Post-streptococcal glomerulonephritis: antigen-antibody mediated complement activation (micro/macroscopic hematuria)
  • Reactive arthritis

Internal Medicine (12 decks)

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