Paediatric Conditions

Question 1

Child 1 years keeps presenting to A&E with broken bones, mom claims he was just crawling then landed badly. If not child abuse, what condition might this child have?

Answer 1

Osteogenesis imperfecta

Defectb of type 1 collagen so get brittle bones

Question 2

What condition arises from a mutation in the FGR3 receptor?

Answer 2

Achondroplasia; where get dwarfism (short stature). Joints are lax, mental development normal, large forehead, and widened nose

Question 3

What are some of the features of neurofibromatosis?

Answer 3

Cafe au lait spots
Neurofibros (skin tags)
Freckling of axilla
Optic glioma
Cortical thinning
Familal tendency

Question 4

Man presents with tall stature, he has disproportinately long limbs, ligament laxity, scolosis, on examination he has an aortic regurgitation and a high arched palate. What mutation is involved with this condition?

Answer 4

Marfans syndrome

Mutation of the fibrillin gene

Question 5

Boy presents with frequent shoulder dislocations unintentionally, and mentions he is easily bruised with notible bruising around his legs and arms. On examination he is a prominent rotational scoliosis. What is the likley diagnosis? What genetic mutation?

Answer 5

Ehlers danlos syndrome

Autosomal dominant with abnormal elastin/ collagen production

Question 6

Down syndrome is a chromosomal mutation of what? Results in what recurrent dislocation?

Answer 6

Trisomy of 21

Patella

Question 7

Boy 3 years presents with extreme fatigue, he has normal development and delivery up to this point. Where now he cant get up from sitting just using his legs but has to walk his hands up his thighs. He cannot walk 10m without getting tired and having to stop. His walk is clumsy. You do a muscle biopsy and find the abscence of dystrophin. What is the diagnosis? And prognosis?

Answer 7

Duchenne muscular dystrophy (x-linked defect in dystrophin gene)

By 10years wont be able to walk, 20 years cardiac and resp failure, death in early 20s

Question 8

What is the treatment for duchenne muscular dystrophy ?

Answer 8

No cure just management

Physiotherapy, splintage, deformity correction (scoliosis),

Question 9

Girl 2 years presents to A&E with severe meningitis. What condition is she likely to get secondary to the meningitis if its cured?

Answer 9

Cerebral palsy due to the insult to the immature brain

Question 10

What is the common presentation of cerebral palsy?

Answer 10

Depending of part of brain effected

Poor limb control, learning difficulties, developmental milestones missed, spasticity

Question 11

What are some of the treatment options for cerebral palsy ?

Answer 11

Baclofen (gabbin agonist to depress spacity )
Selective dorsal rhizotomy (cut overfiring nerves)
Botox injections to paralyse muscles temporarily

Question 12

Intoeing, femoral neck anteversion, curly toes and all type of flat feet are normal developmental variations. T/F?

Answer 12

FALSE

First 3 correct but flat feet can either be mobile or rigid. Rigid is abnormal and may be inflammatory disorder

Question 13

Give the normal developmental timeline of the knees alignment

Answer 13

At birth will be varus (bow legged)
By 14 months will normally align
At 3 years will have valgus (knock knee)
By 7-9 years will have normal physiological valgus

Question 14

At what degree is developmental knee alignment considered pathological for a childs age?

Answer 14

If it is 6º more or less

Question 15

What is the cause of obstetric brachial plexus palsy?

Answer 15

During birth the head comes out but the shoulder gets stuck behind the pubic symphysis

Question 16

What is nerve roots are effected in
A. Erbs palsy
B. Klumpkes palsy

Answer 16

A. C5/ C6

B. C8 and T1 only 50% recovery

Question 17

Baby girl presents to clinic for her baby check. You do her check and find she is ortolani and barlow test positive. What is the treatment and monitoring stategy?

Answer 17

Developmental dysplasia of the hip (underdeveloped acetabulum from poor positioning)

Pavlik harness (to flex and abduct the hip)

Ultrasound to monitor

Question 18

8 year old boy presents to clinic with a limp of his right side. He has an ataxic gait on his right side, and ROM of the right hip is restricted. A few weeks ago he had the flu. You do bloods and his CRP is pretty much normal. You do an x-ray and everything seems normal. You give some NSAIDs and say rest. Over a few weeks it resolves. What was the diagnosis?

Answer 18

Transient synovitis of the hip (common cause of hip pain in kids)

X-ray to exclude other diagnosis, common after upper resp infection

Question 19

Boy of 6 years with achondroplasia presents with gradual pain in his right hip. It has progressed to him limping. On examination he has loss of internal rotation and loss of abduction. On assessing gait he has a positive trendelburgh gait. What is the diagnosis?

Answer 19

Perthes disease

Necrosis of femoral head, peak age is 6yrs with males of short stature common,

Question 20

What is the treatment for perthes disease?

Answer 20

Regular xrays to monitor

Avoidance of physical activity

Question 21

Obese Boy of 13 years presents with pain in his left groin, he is limping on his left side. His mom mentions he just really shot up in the last 2 months. He also has hypothyroidism. On examination there is loss of internal rotation. Diagnosis? Treatment?

Answer 21

SUFE (slipped upper femoral epiphysis)

Surgery to pin the femoral head.

Question 22

Man presents with painful left side of groin. He has 2 points in the Kochers criteria. He recently recovered from a throat infection. What is the investigation?

Answer 22

In have 2 points then take to theatre for hip aspiration to ensure not septic arthritis

Question 23

What is the treatment for reactive synovitis?

Answer 23

Self limiting so nsaids and analgesia

Question 24

Women presents with rapid onset groin pain, she is systemically unwell with a fever, she cannot weight bear or move her thigh at all. The groin area is red, swollen and hot. What is the diagnosis and treatment?

Answer 24

Septic arthritis

Wash out the joint to rid of pus, take samples and give IV antibiotics

Question 25

What meniscus is usually torn, medial or lateral?

Answer 25

Medial

Question 26

Boy of 1 year presenst with right foot in permanent supination of the forefoot, and varus alignment. What is the diagnosis and treatment?

Answer 26

Talipes equinovarus
(Club foot)

Ponsetti technique (progressive splintage)

Question 27

What three bony structures come together to form the triradiate cartilage that forms the acetabulum?

Answer 27

Ilium
Ischium
Pubis