Developmental Disorders

Question 1

What is an anomaly?

Answer 1

• any deviation from expected or average form and/or function (interpreted as abnormal)
• major: cosmetic/surgical consequences
• minor: little impact on individual well-being

Question 2

What is a malformation?

Answer 2

A morphological defect of an organ or region of the body resulting from an intrinsically abnormal developmental process

Question 3

Describe aspects of cardiac VSD

Answer 3

• associated with Down Syndrome
• usually symptomatic at birth but manifests within a few weeks
• acyanotic due to left-right shunt but uncorrection can increase pulmonary resistance leading to shunt reversal and cyanosis
• hole between ventricles allowing the mixing of oxygenated and deoxygenated blood

Question 4

Describe aspects of spina bifida

Answer 4

• neural tube defect where the lower portion of tube fails to develop or close properly
• can be open or closed
• an open one can result in a defect in the lumbosacral region where hernia of the dura mater and neural tissue with nerve roots of the spinal cord occurs
• folic acid given during pregnancy as preventative

Question 5

What are syndromes?

Answer 5

Multiple anomalies thought to be pathologically related

Question 6

What is Ectopia?

Answer 6

• abnormal location/position of an organ/tissue
• mostly congenital but can occur as result of injury
• eg. Ectopia cordis = displacement of heart outside body

Question 7

What is a hamartoma?

Answer 7

• tumour-like malformation composed of normal mature cells in usual location but as a disorganised mass
• mixture of mature tissue elements which grow and develop at same rate as surrounding tissue
• can be associated with underlying conditions (eg. Peuts-Jeghers Syndrome = mutation of STK11 gene, causes mucocutaneous pigmentation and hamartomous polyposis (commonly jejunum and ileum))

Question 8

What is a diverticulum?

Answer 8

• circumscribed pouch/sac caused by herniation of the mucosa lining an organ through a defect in a muscular coat
• eg. Meckel’s diverticulum

Question 9

Describe Meckel’s diverticulum and its complications

Answer 9

• congenital out-pouch of terminal ileum on anti-mesenteric border caused by an ending duct from the yolk sac during development that failures to involute
• contains all layers of intestine and have ectopic tissue within it
• complications: inflammation (mimics appendicitis), bleeding, perforation, obstruction/intussusception

Question 10

Describe diverticular disease and its complications

Answer 10

• common in adults lacking fibre (induces muscular hypertrophy increasing in transluminal pressure leading to out-pouching of the mucosa)
• usually sigmoid colon
• do not contain all layers = only mucosa and submucosa
• pouches herniate between muscle fibres where blood vessels and penetrate the colonic wall
• complications: inflammation and ulceration (abscesses, fistulae, haemorrhage), repeated attacks (which can cause eventual stenosis)

Question 11

Describe features of intussusception

Answer 11

• invagination of a portion of the intestine
• most common when very young at ileocaecal valve
• results in progressive compression of blood supply = haemorrhagic necrosis
• can be associated with neoplasia