Paediatric Pathology

Question 1

Causes of perinatal death

Answer 1

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

Question 2

Chromosomal disorders of the foetus

Answer 2

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

Question 3

Down’s syndrome genetics

Answer 3

Trisomy 21

Question 4

Edward’s syndrome genetics

Answer 4

Trisomy 18

Question 5

Patau’s syndrome genetics

Answer 5

Trisomy 13

Question 6

Turner’s syndrome genetics

Answer 6

45 chromosomes

X 0

Question 7

Signs of uncontrolled diabetes in pregnancy

Answer 7

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

Question 8

Pre-eclampsia

Answer 8

HTN
Proteinuria
Organ dysfunction

Question 9

Eclampsia

Answer 9

Pre-eclampsia + Seizures

Question 10

Single palmar crease sign

Answer 10

Trisomy 21

Question 11

Anecephaly

Answer 11

Absence of brain

Question 12

Spina bifida

Answer 12

Neural tube defect - doesn’t close

If small can be stitched

Question 13

Hydrops

Answer 13

Generalised foetus oedema

Can occur in twins - one pumps blood into other

Question 14

Atresia

Answer 14

Blunt ending to bowel

No connection to distal bowel

Question 15

Oligohydramnios

Answer 15

Wrinkled glove like skin
Potter facies
Agenesis of kidneys
Pulmonary hypoplasia

Question 16

Acute choriomanionitis

Answer 16

Acute inflammation of foetal membranes

Common after premature rupture of membranes

Question 17

Complication of acute choriomanionitis

Answer 17

Group B streptococci

Ascending infection

Question 18

Placental pathology

Answer 18

Infarct due to pre-eclampsia

Acute choriomanionitis

Question 19

Childhood cancers

Answer 19

Leukaemias
Brain and CNS tumours
Neuroblastoma
Wilms tumour
Lymphomas
Rhabdomyosarcoma

Question 20

Hirschsprung’s disease

Answer 20

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

Question 21

Ganglion cells

Answer 21

Control peristalsis

Question 22

Cause of Hirschsprung’s disease

Answer 22

Failure of neural crest cell migration

Question 23

Pattern of Hirschsprung’s disease

Answer 23

Starts distally

Moves proximally

Question 24

Presentation of Hirschsprung’s disease

Answer 24

Delayed meconium passage
Abdo distention
Bilious vomiting

Question 25

Mx of Hirschsprung's disease

Answer 25

Anal pull through | Muscle ring of rectum remains

Question 26

Cystic fibrosis genetics

Answer 26

Autosomal recessive | CFTR gene

Question 27

CF lung pathology

Answer 27

Mucus plugging Severe suppurative lung disease Bronchiectasis

Question 28

CF bowel pathology

Answer 28

Lumen filled with inspissated meconium Intestinal atresia Rectal prolaps

Question 29

Histology of CF

Answer 29

Mucus extends deep into crypts

Question 30

Coeliac disease

Answer 30

Inflammatory reaction to gliadine

Question 31

Coeliac RFs

Answer 31

T1DM | Trisomy 21

Question 32

Long term complications of Coeliac

Answer 32

Osteoporosis | Intestinal T-lymphoma

Question 33

Assessment of coeliac severity

Answer 33

Correlation between antibody and severity | Anti Tissue Transgluaminase

Question 34

Histology of coeliac disease

Answer 34

Villous atrophy | Increased intraepithelial lymphocytes

Question 35

Childhood polycystic kidney disease genetics

Answer 35

Autosomal recessive

Question 36

Tunica vaginalis

Answer 36

Covers testes - part of peritoneum

Question 37

Hydrocele

Answer 37

Fluid within tunica vaginalis

Question 38

Components of testes

Answer 38

Seminiferous tubules - contain sertoli cells | Leydig cells

Question 39

Stages of sperm development

Answer 39

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

Question 40

Sperm passage

Answer 40

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

Question 41

Testicular tumour age

Answer 41

15-34 yrs

Question 42

Types of testicular tumour

Answer 42

Germ cell tumours | Stromal tumours - sertoli and leydig cells

Question 43

Germ cell tumours

Answer 43

Mostly malignant Painless unilateral enlargement Secondary hydrocele Gynaecomastia

Question 44

Germ cell tumour RFs

Answer 44

Cryptorchidism Genetic predisposition Caucasian Testicular feminisation / Klinefelter syndrome

Question 45

Seminoma

Answer 45

Germ cell tumour | Very sensitive to radiotherapy

Question 46

Types of seminoma

Answer 46

Classical seminoma | Spermatocytic seminoma

Question 47

Classical seminoma

Answer 47

Peak in 40s | Sheets of rounded cells with clear cytoplasm

Question 48

Spermatocytic seminoma

Answer 48

Older age Cells with increased mitotic rate Excellent prognosis

Question 49

Intra Tubular Germ Cell Neoplasia

Answer 49

In situ | Germ cells within seminiferous tubules

Question 50

Embryonal carcinoma

Answer 50

Germ cell tumour 20-30 yrs Aggressive Anaplastic cells

Question 51

Yolk Sac tumour

Answer 51

Germ cell tumour Children or adults Adults associated with embryonal carcinoma

Question 52

Histology of yolk sac tumours

Answer 52

Schiller-Duval bodies | blood vessel surrounded by tumour cells

Question 53

Bloods for yolk sac tumours

Answer 53

Raised AFP (Alpha Foetal Protein)

Question 54

Choriocarcinoma

Answer 54

Germ cell tumour Highly malignant Raised hCG levels

Question 55

Cell types in choriocarcinoma

Answer 55

Cytotrophoblasts | Syncitiotrophoblasts