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Paediatrics > Syndromes / Genetics > Flashcards

Syndromes / Genetics Flashcards

1
Q

What is the inheritance of achondroplasia?

A

Autosomal Dominant

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2
Q

Turner’s Syndrome - genetics

A

45 XO (Monosomy) [50%] - affects girls

Mosaicism or Abnormal partial X or Y chromosome [50%]

SHOX-gene: affects growth + maturation of skeleton

UTX-gene: immunodeficiency -> recurrent otitis media

TIMP-1 + TIMP-3: Cardiac defects

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3
Q

Angelman Syndrome
1) What is it ?
2) Genetics ?

A

1) Rare genetic condition that affects the nervous system and causes severe physical and learning disabilities:

Presents:
- Severe developmental delay (6-12 months)
- little or no Expressive language
(preserved maintenance for social interaction)
- Ataxia
- Hypermotor behaviours
- Happy demeanour.

2) Uniparental inheritance - Chq11
Loss of Maternal UBE3A-gene in the brain.

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4
Q

Di George Syndrome: genetics & inheritance

A

Micro deletion of Ch-22 (Ch-22q11) - TBX1 gene

Autosomal Dominant

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5
Q

What are the features of DiGeorge syndrome:

A

[CATCH-22]

C-Cleft Palate: 3rd + 4th Pharyngeal arch defects

A - Abnormal facies
long narrow face, low set ears, narrow eyes

T - Thymic hypoplasia -> immunodeficiency
(Impaired T-cell formation + function)

C - Cardiac: TOF, VSD , AVSD

H - Hypocalaemia -> hypoparathyroidism (Neonates)

Renal tract abnormalities
Scoliosis
Learning difficulties

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6
Q

Downs Syndrome: genetics

A

47XX or 47XY Trisomy 21 [T21]

1) Meiotic Non-disjunction [94%] 1:100 Maternal age <35

2) Robertsonian-Translocation (Ch14 - Ch22) [5%]

3) Mosaicism [1%] - Mitotic Non-disjunction

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7
Q

Features of Down’s Syndrome [T21]

A
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8
Q

Prader-Willi Syndrome: genetics & inheritance

A

Paternal Ch-15q13 deletion [70%]

Maternal uniparental disomy [25%]

Imprinting defect [5%]

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9
Q

Prader-Willi syndrome: features [8]

A

Neonatal Hypotonia

Feeding difficulties: increased sticky saliva production

Obesity: Increased Appetite
- OSA
- Osteoporosis

Short Stature

Hypogonadism:

Behavioural/learning difficulties

Abnormal Facies:
- Narrow Forehead
- Almond Eyes
- Thin upper lip

Small hands + Feet

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10
Q

Turners Syndrome [45XO]: Dysmorphic Features

A

Epicanthic Folds

Short Webbed Neck

Short Stature

Wide Spaced Nipples

Low Hairline

Low-set posteriorly rotated ears

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11
Q

What is Sturge-Weber syndrome?

A

Neuro cutaneous disorder:
1) Cutaneous lesions: port wine stain
2) CNS abnormalities
3) Ocular abnormalities

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12
Q

What affected ocular nerve causes port-wine stain in Sturge-Weber

A

Trigeminal Nerve

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13
Q

What is the inheritance of Von Willebrand’s disease?

A

Autosomal dominant

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14
Q

What is the inheritance pattern for Marfan’s syndrome

A

Autosomal Dominant

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15
Q

What is the inheritance pattern for Neurofibromatosis?

A

Autosomal dominant

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16
Q

What is the inheritance pattern for Tuberous Sclerosis?

A

Autosomal dominant

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17
Q

What is the inheritance of osteogenesis imperfecta?

A

Autosomal dominant

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18
Q

What is the inheritance of Hunter syndrome

A

X linked recessive

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19
Q

What are the clinical signs of SOTOS Syndrome ?

A

1) Cerebral gigantism [Macrocephaly]
2) Large hands + feet
3) Thickened Subcutaneous Tissue
4) Developmental delay

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20
Q

What is Incontinentia Pigmenti?
a) Inheritance / genetics
b) Clinical features
c) Investigations
d) Management

A
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21
Q

What is Ehlers-Danlos syndrome [EDS]:

a) Inheritance / genetics
b) Clinical features
c) Investigations
d) Management

A
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22
Q

Neurofibromatosis type 1 [NF1]

a) Inheritance / genetics
b) Clinical features
c) Investigations
d) Management

A
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23
Q

Tuberous Sclerosis complex:

a) Inheritance / genetics
b) Clinical features
c) Investigations
d) Management

A
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24
Q

Hypohydrotic ectodermal dysplasia:

a) Inheritance / genetics
b) Clinical features
c) Investigations
d) Management

A
25
Q

What is Bartter’s Syndrome?

(Inheritance / genetics)

A

Rare - 1:1,000,000

Type 1 - *SLC12A1* [AR] 
Type 2 - *ROMK1*   [AR]
Type 3 - *CIC-Kb*     [AR]
Type 4 - *CIC-Ka / CIC-Kb* [AR]
Type 5 - *MGED2* [X-linked recessive]

Hypocalaemic Hypercalciuria - CaSR [AD]

Defective function of the Na+/K+/2Cl- co-transporter in the Thick ascending loop of Henle, affects renal tubular function which leads to
- LOW K
-ALKALOSIS

HYPOTENSION

26
Q

What are the characteristics biochemical changes seen in Bartter’s syndrome

A

Blood:
Metabolic Alkalosis
- hypokalaemia
- hyponatraemia
- hypochloraemia
- hypocalcaemia [Type 5]

  • (H) Renin & Aldosterone levels

Urine:
- hypercalciuria
- hyperchloruria

27
Q

Clinical Presentation of Bartter’s syndrome? (Antenatal)

A

Antenatal [Type 1, 2, 4, 5]:
- Polyhydramnios
- / + Prematurity

28
Q

Clinical Presentation of Bartter’s syndrome? (Neonatal)

A

Neonatal [Type 3]

Dysmorphic features:
- triangular facies
- protruding ears
- large eyes
- strabismus
- drooping mouth

Severe salt-wasting:
- dehydration
- hypotension

29
Q

Clinical Presentation of Bartter’s syndrome? (Childhood) [7]

A

Recurrent polyuria with dehydration
Faltering growth
Fatigue
Dizziness
Chronic constipation
Muscle cramps + weakness (2o - hypokalaemia)

BP - normal
Renal function - normal

Nephrocalcinosis (2o - hypercalciuria)

30
Q

What is the inheritance pattern & genetics of Friedrich’s Ataxia?

A

1) Autosomal-Recessive [AD]
2) Tri-nucleotide repeat expansions in “Frataxin” mitochondrial protein

31
Q

What the inheritance & genetics for Fragile-X syndrome

A

X-linked, stable inherited tri-nucleotide repeats in FMR1-gene

32
Q

Spinocerebellar Ataxia (SCA 7)

A

Autosomal Dominant [AD]
Trinucleotide repeat patterns

33
Q

Huntingtons Disease

A

Autosomal Dominant with trinucleotide repeated pattern

34
Q

Which genes is implicated in Tuberous Sclerosis?

A

TSC1 - Hamartin

TSC2 - Tuberin

Loss of inhibition within the mTOR-pathway leads to growth of hamartomas, within these organs below:
- Skin
- Brain
- Kidney
- Lung
- Heart

35
Q

What are the Neuro-cutaneous manifestations of Tuberous Sclerosis? [3]

A

1) Shagreen patches
2) Ash-leaf macules
3) Periungual fibromas

36
Q

What percentage of children with
Turner’s syndrome have co-arctation of the aorta ?

A

30-50%

Neonates/Infants, who present with Severe co-arctation should be tested for chromosomal abnormalities:

Eg: Turners 45XO

37
Q

What are the causes of congenital adrenal hyperplasia [CAH] ? (3)

A

[Karyotype: 46 XX,

1) 21-hydroxylase deficiency
2) 5-alpha-reductase deficiency
3) 11-beta-hydroxalase deficiency

38
Q

What is 5-alpha-reductase deficiency?
- which population
- karyotype

A

Enzyme deficiency, which causes androgen insensitivity

  • Dominican Republic
  • 46 XY
39
Q

11-beta-hydroxylase deficiency

A

Enzyme deficiency leading to:
Congenital Adrenal

40
Q

What lung pathology associated with Congenital Diaphragmatic Hernia?

A

Pulmonary Hyoplasia:

Compromised development of the Lung-tissue due to abnormal intestinal position in the chest.

  • Respiratory Distress
  • Cardiovascular Compromise
41
Q

Signs of Congenital CMV ? [5]

A

IUGR

Microcephaly

Intraventricular calcification

Chorioretinitis

Sensorineural Deafness

42
Q

Signs of Congenital HSV ? [3]

A

Microcephaly

Cutaneous Scars

Vesicles

43
Q

Signs of Congenital Rubella ? [5]

A

Cardiac Defects

Cataracts

Hepatosplenomegaly

Microcephaly

Petechiae

44
Q

Signs of Congenital Syphilis ? [3]

A

Coryzal

Hepatosplenomegaly

Rash

45
Q

Signs of Congenital Toxoplasmosis ? [4]

A

IUGR

Hydrocephalus

Intercerebral calcification

Chorioretinitis

46
Q

Secondary Apnoea Phase?

A

Loss of Spontaneous Breathing

Rapidly Worsening acidosis

Impaired Cardiac function

(Babies in this phase will likely require chest compressions in addition to respiratory aeration]

47
Q

Which Maternal Hormone plays a significant role in successful fetal-newborn transition ?

A

Cortisol: Major regulatory hormone for Terminal Maturation & Adaptation at birth.

  • Lung Maturation
  • Lung fluid clearance
  • Thyroid Axis Maturation
  • Catecholamine release
  • Raised B-receptor density
48
Q

Treatment for neonatal chickenpox [VZV] within 7days?

A

Varicella Zoster Immunoglobulin (VZ-IG)

49
Q

What are the Neurological features of Sturges-Weber syndrome?

A
  • Epilepsy —> Siezures
  • Mental retardation
  • Stroke-like illness
  • Developmental delay
50
Q

What are the

A
51
Q

What are the Occular manifestations of Sturge-Weber syndrome?

A

Glaucoma
Buphtalmos
Vascular lesions:
- Conjunctiva
- Episclera
- Choroid
- Retina

52
Q

What skin lesion is indicative of Sturge-Weber syndrome?

A

Port wine stain [PWS]:

“Erythematous macular lesion”

Trigeminal Nerve distribution:
- Opthalmic branch
- Maxillary branch

53
Q

What cranial changes may you find in Sturge-Weber syndrome?

A

Intracranial “Tramline calcification”

54
Q

What Neurovascular changes seen in Sturges-Weber syndrome?

A

Leptomeningeal Angiomata

55
Q

Protruding tongue
Hypotonia
Frog position legs

Who am I???

A

Glycogen storage disease type 2

56
Q

What enzyme is missing in glycogen storage disease

A

Acid alpha glucosidase

Means glycogen can’t be broken down
No glucose
No energy for muscles
They don’t work properly
In infants - this includes the heart

57
Q

Baby can’t move his left arm held in extended position
Some may call it pseudoparalysis of parrot

What disease you thinking

A

Congenital syphilis

58
Q

Initial investigation for congenital syphilis

A

Serum rapid plasma regain
Treponemal IgA

Paediatrics (3 decks)

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