Paediatrics Flashcards

1
Q

Evidence of bowel sounds in a neonate exam should make you consider which condition?

A

Diaphragmatic Hernia

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2
Q

What is the most common cause of disproportionate short stature?

A

Dwarfism

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3
Q

What is Achondroplasia?

A

Dwarfism

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4
Q

Which gene is affected in Achondroplasia?

A

Fibroblast Achondroplasia Receptor 3 on Chromosome 4

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5
Q

Achondroplasia is inherited in what form?

A

Autosomal Dominant (One Normal and One Abnormal Gene)

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6
Q

How does Achondroplasia commonly present? (7)

A

Short Stature (Rhizomelia)
Short Digits (Brachdactylyl)
Trident Hands
Lumbar Lordosis
Bow Legs (Genu Varum)
Foramen Magnum Stenosis
Frontal Bossing

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7
Q

Name common complications of Achondroplasia? (6)

A

Recurrent Otitis Media
Kyphoscoliosis
Spinal Stenosis
Obstructive Sleep Apnoea
Cervical Cord Compression Hydrocephalus

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8
Q

What bacteria causes Epiglottitis?

A

Haemophilus Influenza Type B

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9
Q

Can you vaccinate against Epiglottitis?

A

Yes - Haemophilus

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10
Q

How does Epiglottitis present? (6)

A

Unvaccinated
Fever
Sore Throat
Difficult Swallow
Sit Forward/Drool
Tripod Position Breathing

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11
Q

How to diagnose Acute Epiglottitis? (2)

A

Do not examine
X-Ray - Thumbprint Sign and Steeple Sign

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12
Q

Treatment of Acute Epiglottitis? (4)

A

Don’t Distress Child
Airway Secure
IV Antibiotics eg Ceftriaxone
Dexamethasone

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13
Q

What is the most common malignancy affecting children?

A

Acute Lymphoblastic Leukaemia

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14
Q

Peak Age Incidence of Acute Lymphoblastic Leukaemia?

A

2-5 Years of Age Boys Slightly More Affected

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15
Q

Who are particularly at risk of Acute Lymphoblastic Leukaemia? (5)

A

Siblings
Children with Downs
Kleinfelter, Fanconi Anaemia and Ataxia Teleangiectasia

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16
Q

Which chromosome is a prognostic marker of ALL?

A

Philadelphia Chromosome T (9,22)

17
Q

Which translocation is commonly associated with Acute Lymphoblastic Leukaemia?

A

T (12,21)

18
Q

What are the main symptoms of Acute Lymphoblastic Leukaemia) (6)

A

Anaemia
Easy Bruise
Petechiae
Infections
Bone Marrow
Lymphadenopathy

19
Q

What are the main signs of Acute Lymphoblastic Leukaemia? (5)

A

Neutropenia
Thrombocytopenia
Splenomegaly
Hepatomegaly
Testicular Swelling

20
Q

How to diagnose Acute Lymphoblastic Leukaemia?

A

Bone Marrow Aspirate and Blood Film - Blast Cells

21
Q

Blast Cells are commonly associated with what childhood malignancy?

A

Acute Lymphoblastic Leukaemia

22
Q

How to Treat Acute Lymphoblastic Leukaemia (3)

A

Chemotherapy
Methotrexate and Mercaptopurine

23
Q

What are the three common complications of Acute Lymphoblastic Leukaemia? (3)

A

CNS Involvement
Testicular Involvement
Neutropenic Sepsis

24
Q

Name 5 Common Early Complications of Acute Lymphoblastic Leukaemia?

A

Tumour Lysis Syndrome
Hair Loss
Mucosititis
Nephrotoxicity
Neutropenic Sepsis

25
Q

Name 5 Common Late Complications of Acute Lymphoblastic Leukaemia?

A

Cardiomyopathy
Pulmonary Fibrosis
Infertility
Growth Delay
Hypothyrodism

26
Q

Mode of inheritance for Haemophilia A and B?

A

X Linked Recessive

27
Q

A child presents with fever, conjunctivitis and being irritable. He has also developed a maculopapular rash which started behind ears before spreading and becoming blotchy & confluent what is wrong?

A

Measles

28
Q

A 5-year-old child develops fever, cough and conjunctivtis. On examination the child is irritable and has a blanching erythematous rash on the face and upper chest. Small white spots can also be seen on the inside of the cheeks what is wrong?

A

Measles