Some diseases

Question 1

Bronchiolitis? Pathogen?

Answer 1

Lower respi tract infection
Respiratory syncytial virus (RSV) - most common,
Usually infection of bronchioles, breathing difficulties, poor feeding, cough, irritability, apnoeas in v. young, wheeze or crepitations.

Question 2

Hydrocephalus?

Answer 2

Hydro-water, cephalus-head.
Increase in cerebrospinal fluid occupying cerebral ventricles. Can lead to death. Can be congenital (Bickers, Adams), acquired (following infection or haemorrhage),

Question 3

What is Prader-Willi syndrome?

Answer 3

Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by hypotonia (low muscle tone) and developmental delay as an infant and obesity, learning disability and behavioural problems (especially relating to food) in adolescence and adulthood.

Question 4

Duchenne Muscular Dystrophy - what is it (not presentation)

Answer 4

Progressive muscle wasting and weakness. X-linked recessive, de novo common.

Question 5

Duchenne Muscular Dystrophy - presentation in motor milestones?

Answer 5

Motor milestones delayed:
Inability to run - waddling gait when attempting to do so
Other gait signs - no spring in the step, cannot hop or jump; toe walking; falls
Gower’s sign - ‘climbing up legs’ using the hands when rising from the floor
Hypertrophy of calf muscles (and possibly other muscles too, including the deltoid, quadriceps, tongue and masseters)

Question 6

Duchenne - Non-locomotor presenting symptoms:

Answer 6

Speech delay or global developmental delay
Failure to thrive
Abnormal LFTs (raised AST or ALT)
Anaesthetic complications - eg, myoglobinuria, rhabdomyolysis or malignant hyperthermia after certain anaesthetics
Fatigue - common

Question 7

Fragile X syndrome - what is it? Associated conditions?

Answer 7

an inherited condition characterized by an X chromosome that is abnormally susceptible to damage, especially by folic acid deficiency. Limited intellectual functions.
Associated: tremor/ataxia disorder and primary ovarian insufficiency.

Question 8

Neonatal features of Down’s syndrome - head and neck?

Answer 8

Brachycephaly.
Oblique palpebral fissures.
Epicanthic folds.
Ring of iris speckles - Brushfield's spots.
Ears set low, folded or stenotic meatus.
Flat nasal bridge.
Neck: Loose skin on nape of neck.

Question 9

Neonatal features of Down’s syndrome - mouth?

Answer 9

Protruding tongue (small narrow palate).
High arched palate.

Question 10

Neonatal features of Down’s syndrome - hands and feet?

Answer 10

Single palmar crease.
Short little finger.
In-curved little finger.
Short broad hands
Feet: Gap between hallux and second toes

Question 11

Neonatal features of Down’s syndrome - assoc. dis.?

Answer 11

Congenital heart defects.

Duodenal atresia.

Question 12

Neonatal features of Down’s syndrome - general?

Answer 12

Hyperflexibility.
Muscular hypotonia.
Transient myelodysplasia of the newborn.

Question 13

Can pneumonia be viral in babies?

Answer 13

Most commonly it is.

Question 14

What is a lumbar puncture?

Answer 14

Also: spinal tap. A needle is inserted into the spine, most commonly to collect cerebrospinal fluid (CSF) for diagnostic testing

Question 15

What is encephalitis?

Answer 15

Inflam of the brain parenchyma, often viral, other pathogens and other conditions - toxins, autoimmune disorders

Question 16

What is Meningoencephalitis?

Answer 16

Inflam process, most often viral, involving both the brain and meninges

Question 17

Tumbler test?

Answer 17

Put a glass to rash and check if blanches - sign of meningococcal septicaemia (can be both meningitis and septicaemia)

Question 18

Differentials of funny turns, fits and faints? (7)

Answer 18

Febrile seizures
Vasovagal episode 
Reflex anoxic seizures
Breath holding attacks
Behavioural episodes
Epilepsy
Arrhythmias

Question 19

What is reflex anoxic seizure?

Answer 19

Reflex asystolic syncope.
reduction in cerebral perfusion by oxygenated blood. It can be a result of either a sudden reduction in the blood flow to the brain, a drop in the oxygen content of the blood supplying the brain

Question 20

What is breath holding spell/attack?

Answer 20

apnea (suspension of breathing) in children, possibly associated with loss of consciousness, and changes in postural tone.