PassMed Notes Flashcards
What are the features of congenital cytomegalovirus?
- Growth retardation
- Purpuric skin lesions
- Sensorineural deafness
- Seizures
What are the features of congenital rubella?
- Sensorineural deafness
- Congenital cataracts
- PDA
- Purpuric skin lesions
- Salt and pepper chorioretinitis
When is bicuspid aortic valve usually seen?
Turner’s syndrome
What are some features of Turner’s syndrome?
- Short stature
- Shield chest-> widely spaces nipples
- Webbed neck
- Bicuspid aortic valve
- Coarctation of the aorta
- Primary amenorrhoea
- Cystic hygromas
- Lymphoedema in neonates
- High-arched palate
- More common-> hypothyroidism, horseshoe kidney, AI disease, Crohn’s
How does chicken pox present?
- Fever
- Itchy rash-> starts on head/trunk then spreads
- Macular then papular than vesicular
How does measles present?
- Prodrome-> irritable, fever, conjunctivitis
- Koplik spots-> on buccal mucosa
- Rash-> behind ears then whole body, maculopapular
How does mumps present?
- Fever, malaise, myalgia
- Parotitis-> unilateral then bilateral (70%)
How does rubella present?
- Rash-> face then whole body, pink maculopapular, fades by day 3-5
- Lymphadenopathy-> suboccipital + postauricular
How does erythema infectiosum present?
- AKA slapped cheek syndrome
- Lethargy, fever, headache
- ‘Slapped cheek’ rash then spreads to proximal arms + extensor surfaces
What causes erythema infectiosum?
- Slapped cheek syndrome
- Parvovirus B19
What causes scarlet fever?
- Group A haemolytic strep-> erythogenic toxins
- Eg strep pyogenes
How does scarlet fever present?
- Fever, malaise, tonsillitis
- Strawberry tongue
- Rash-> fine punctuate erythema, spares area around mouth, ‘sand paper’ on flexural areas
How does hand, foot + mouth disease present?
- Sore throat
- Fever
- Vesicles in mouth + palms + soles of feet
What causes hand, foot + mouth disease?
Coxsackie A16
What are some clinical features of Down’s syndrome?
- Upslanting palpebral fissures
- Epicanthic fold
- Brushfield spots in iris
- Small, low set ears
- Flat occiput
- Single palmar crease
- Sandal gap between big + first toe
- Hypotonia
- Duodenal atresia
- Hirschprung’s
- Congenital heart defects
What congenital heart defects are common in Down’s syndrome?
- Endocardial cushion defects (AV septal canal)
- VSD
- ASD
- ToF
- PDA
What are some complications of Down’s syndrome?
-Duodenal atresia
-Hirschprung’s
-Congenital heart defects
-Subfertility
-Learning difficulties
-Short stature
-Recurrent resp infections
-Glue ear
-ALL
-Hypothyroisism
-Alzheimer’s
Atlantoaxial instability
What is chondromalacia patellae?
- Softening in cartilage of patella
- Teenage girls
- Anterior knee pain when walking up + down stairs
What is Osgood-Schlatter disease?
- Tibial apophysitis
- Sporty teens
- Pain/tender/dwollen tibial tubercle
What is osteochondritis dissecans?
- Intermittent swelling + locking
- Pain after exercise
What is patellar subluxation?
- Lateral subluxation of patella
- Medial knee pain
- Can give way
What is patellar tendonitis?
- Chronic anterior knee pain
- Worse after running
- Tender below patella on examination
- More common in athletic teen boys
What are the features of Patau syndrome (trisomy 13)?
- Microcephaly
- Small eyes
- Cleft lip/palate
- Polydactyly
- Scalp lesions
What are the features of Edward’s syndrome (trisomy 18)?
- Micrognathia
- Low-set ears
- Rocker bottom feet
- Overlapping of fingers
What are the features of fragile X?
- LDs-> autism more common
- Macrocephaly
- Long face
- Large ears
- Macro-orchidism
What are the features of Noonan syndrome?
- Webbed neck
- Pectus excavatum
- Short stature
- Pulmonary stenosis
- Normal karyotype
What are the features of Pierre-Robin syndrome?
- Micrognathia
- Posterior displacement of tongue-> upper airway obstruction
- Cleft palate
What are the features of Prader-Willi syndrome?
- Hypotonia
- Hypogonadism
- Obesity
What are the features of William’s syndrome?
- Short stature
- LDs
- Friendly + extroverted
- Elfin facies
- Strabismus
- Broad forehead
- Transient neonatal hypercalcaemia
- Supravalvular aortic stenosis
What chromosome defect causes cystic fibrosis?
Chromosome 7
What causes threadworms?
Enterobius vermicularis
How are threadworms managed?
Single dose mebenazole + hygiene measures for all members of the household
Which conditions have an X-linked recessive pattern?
- Duchenne muscular dystrophy
- Haemophilia
- G6PD deficiency
Which conditions have an autosomal recessive pattern?
- Cystic fibrosis
- Sickle cell anaemia
- Haemochromatosis
- Gilbert’s syndrome
What inheritance pattern do the majority of genetic conditions have?
Autosomal dominant
How does homocystinuria present?
- Young adult
- Lens dislocation
- Tall
- Arachnodactyly
- LD
- DVT
How is Duchenne muscular dystrophy diagnosed?
Genetic testing
How does Duchenne muscular dystrophy present?
- Wasting + weakness of calf muscles
- Positive Gower’s test-> walk arms up legs to get up from floor
Most common cause of arrest in children?
Respiratory-> hypoxia
When are hypospadias surgically corrected?
Around 12 months of age
What is a side effect of methylphenidate?
Stunted growth
What medication can be used in ADHD?
Methylphenidate
What imaging is used in slipped upper femoral epiphysis (SUFE)?
Plan X-ray of both hips (AP + frog legs view)
What is a poor prognostic factor for congenital diaphragmatic hernia?
Liver in thoracic cavity
How does roseola infantum present?
- High fever for a few days
- Then maculopapular rash
- Febrile convulsions
- Diarrhoea
- Cough
- Can progress to aseptic meningitis or hepatitis
- Often age 6 months to 2 years
What causes roseola infantum?
Human Herpes Virus 6