Paediatric Pathology Flashcards

1
Q

Causes of perinatal death

A

1) Prematurity
2) Spontaneous preterm delivery and Hypertensive disorders
3) Foetal abnormalities

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2
Q

Chromosomal disorders of the foetus

A

1) Down’s syndrome
2) Edward’s syndrome
3) Patau’s syndrome
4) Triploidy
5) Turner’s syndrome

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3
Q

Down’s syndrome genetics

A

Trisomy 21

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4
Q

Edward’s syndrome genetics

A

Trisomy 18

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5
Q

Patau’s syndrome genetics

A

Trisomy 13

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6
Q

Turner’s syndrome genetics

A

45 chromosomes

X 0

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7
Q

Signs of uncontrolled diabetes in pregnancy

A
Increased somatic size (marcosomia)
Increased perinatal death
Increased malformation
Hyperinsulinaemia - at birth become hypoglycaemic and die
Islet hypertrophy
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8
Q

Pre-eclampsia

A

HTN
Proteinuria
Organ dysfunction

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9
Q

Eclampsia

A

Pre-eclampsia + Seizures

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10
Q

Single palmar crease sign

A

Trisomy 21

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11
Q

Anecephaly

A

Absence of brain

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12
Q

Spina bifida

A

Neural tube defect - doesn’t close

If small can be stitched

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13
Q

Hydrops

A

Generalised foetus oedema

Can occur in twins - one pumps blood into other

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14
Q

Atresia

A

Blunt ending to bowel

No connection to distal bowel

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15
Q

Oligohydramnios

A

Wrinkled glove like skin
Potter facies
Agenesis of kidneys
Pulmonary hypoplasia

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16
Q

Acute choriomanionitis

A

Acute inflammation of foetal membranes

Common after premature rupture of membranes

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17
Q

Complication of acute choriomanionitis

A

Group B streptococci

Ascending infection

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18
Q

Placental pathology

A

Infarct due to pre-eclampsia

Acute choriomanionitis

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19
Q

Childhood cancers

A
Leukaemias
Brain and CNS tumours
Neuroblastoma
Wilms tumour
Lymphomas
Rhabdomyosarcoma
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20
Q

Hirschsprung’s disease

A

Developmental disorders
Neurons invade bowel
Smooth muscle narrowing of bowel
Absence of ganglion cells in distal rectum

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21
Q

Ganglion cells

A

Control peristalsis

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22
Q

Cause of Hirschsprung’s disease

A

Failure of neural crest cell migration

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23
Q

Pattern of Hirschsprung’s disease

A

Starts distally

Moves proximally

24
Q

Presentation of Hirschsprung’s disease

A

Delayed meconium passage
Abdo distention
Bilious vomiting

25
Q

Mx of Hirschsprung’s disease

A

Anal pull through

Muscle ring of rectum remains

26
Q

Cystic fibrosis genetics

A

Autosomal recessive

CFTR gene

27
Q

CF lung pathology

A

Mucus plugging
Severe suppurative lung disease
Bronchiectasis

28
Q

CF bowel pathology

A

Lumen filled with inspissated meconium
Intestinal atresia
Rectal prolaps

29
Q

Histology of CF

A

Mucus extends deep into crypts

30
Q

Coeliac disease

A

Inflammatory reaction to gliadine

31
Q

Coeliac RFs

A

T1DM

Trisomy 21

32
Q

Long term complications of Coeliac

A

Osteoporosis

Intestinal T-lymphoma

33
Q

Assessment of coeliac severity

A

Correlation between antibody and severity

Anti Tissue Transgluaminase

34
Q

Histology of coeliac disease

A

Villous atrophy

Increased intraepithelial lymphocytes

35
Q

Childhood polycystic kidney disease genetics

A

Autosomal recessive

36
Q

Tunica vaginalis

A

Covers testes - part of peritoneum

37
Q

Hydrocele

A

Fluid within tunica vaginalis

38
Q

Components of testes

A

Seminiferous tubules - contain sertoli cells

Leydig cells

39
Q

Stages of sperm development

A

1) Spermatogonium
2) Primary spermatocyte
3) Secondary spermatocyte
4) Spermatid
5) Spermatozoon (mature)

40
Q

Sperm passage

A

1) Seminiferous tubules
2) Rete testis
3) Ductuli efferentis
4) Epididymis
5) Vas deferens
6) Prostatic urethra

41
Q

Testicular tumour age

A

15-34 yrs

42
Q

Types of testicular tumour

A

Germ cell tumours

Stromal tumours - sertoli and leydig cells

43
Q

Germ cell tumours

A

Mostly malignant
Painless unilateral enlargement
Secondary hydrocele
Gynaecomastia

44
Q

Germ cell tumour RFs

A

Cryptorchidism
Genetic predisposition
Caucasian
Testicular feminisation / Klinefelter syndrome

45
Q

Seminoma

A

Germ cell tumour

Very sensitive to radiotherapy

46
Q

Types of seminoma

A

Classical seminoma

Spermatocytic seminoma

47
Q

Classical seminoma

A

Peak in 40s

Sheets of rounded cells with clear cytoplasm

48
Q

Spermatocytic seminoma

A

Older age
Cells with increased mitotic rate
Excellent prognosis

49
Q

Intra Tubular Germ Cell Neoplasia

A

In situ

Germ cells within seminiferous tubules

50
Q

Embryonal carcinoma

A

Germ cell tumour
20-30 yrs
Aggressive
Anaplastic cells

51
Q

Yolk Sac tumour

A

Germ cell tumour
Children or adults
Adults associated with embryonal carcinoma

52
Q

Histology of yolk sac tumours

A

Schiller-Duval bodies

blood vessel surrounded by tumour cells

53
Q

Bloods for yolk sac tumours

A

Raised AFP (Alpha Foetal Protein)

54
Q

Choriocarcinoma

A

Germ cell tumour
Highly malignant
Raised hCG levels

55
Q

Cell types in choriocarcinoma

A

Cytotrophoblasts

Syncitiotrophoblasts