Clinical 4 Flashcards

1
Q

Early diastolic murmur, left 3rd intercostal space:

A

Pulmonary regurgitation - post pulmonary stenosis/right ventricular outflow tract obstruction surgery OR aortic regurgitation - best heard at the third left intercostal space

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Diastolic murmur apex:

A

Mitral stenosis - best heard at the apex - associated with a large left-to-right shunt in a ventricular septal defect, patent ductus arteriosus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Diastolic murmur LLSE:

A

Tricuspid stenosis - best heard at lower left sternal edge - associated with atrial septal defect, TAPVR, endocardial cushion defect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Continuous murmur:

A
Aortopulmonary/arteriovenous collection
Patent ductus arteriosus – with bounding pulses
Arteriovenous fistula
Persistent truncus (rare)
BT Shunt – check for scars
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Apical systolic murmur:

A
Mitral regurgitation
Ventricular septal defect
Vibratory innocent murmur
Mitral valve prolapse
Aortic stenosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Facies for SMA:

A

SMA - bright and alert, may have O2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Facies for neuromuscular/muscular disorders:

A

NMD or muscular disorders - ptosis, opthalmoplegia, facial diplegia, tented mouth or myopathic facies
Check for tongue fasciculation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are ‘myopathic’ facies?

A

Expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

“Strong floppy” baby makes you think:

A

Genetic - Prader-Willi syndrome, Down syndrome
Structural - e.g. lissencephaly
Neuro-degenerative e.g. Tay-Sachs, MPS
Neurocutaneous e.g. Sturge-Weber syndrome
Metabolic disorder e.g. amino-acidopathies

Infection (TORCH, meningitis, encephalitis)
Ischaemia
Traumatic
Endocrine - hypothyroidism, hypopituitarism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Weak floppy baby makes you think:

A

Anterior horn - SMA

Peripheral nerve - hereditary sensory and motor neuropathy type 3, Guillain-Barre syndrome

Neuromuscular junction - myasthenia

Muscle - congenital, hereditary

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Floppy baby complications?

A
Eye muscles - opthalmoplegia
Mouth muscles - aspiration
Neck muscles - head lag
Back muscles - scoliosis
Respiratory muscles - weak cry, cough, chest infections
Abdominal muscles - constipation
Leg muscles - hip dislocation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Complications of obesity?

A

CNS
Pseudo-tumor cerebri
Depression

“Metabolic syndrome” Raised BP, cholesterol, BSL, fatty liver, insulin resistance

Resp: OSA/hypoventilation

Bones: SUFE
Bowing of tibia and femurs - overgrowth of proximal metaphysis (Blount disease)
Increased risk of osteoporosis (sedentary lifestyle)

PCOS - hyper-androgenic profile in girls
Precocious puberty
Acne

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Macrocephaly causes?

A

Hydrocephalus - obstruction of drainage or too much CSF, prev IVH
Genetic and metabolic e.g. achondroplasia, sotos, NF1, TS, Tay Sachs, MPS, fragile X
Bone - rickets, thalassemia causing marrow expansion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

First line investigations for large liver

A
FBC
LFT
Electrolytes
Coagulation studies
Infective (TORCH + EBV)
Newborn screen (CF/tyrosinaemia)
Ammonia

Ultrasound

Autoimmune eg PSC, TSH, GN
Metabolic - urine a.a. tyrosinaemia
Copper and ceruloplasmin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Newborn screening is for:

A
  • Amino acid disorders (for example PKU and MSUD)
  • Fatty acid oxidation disorders (for example MCAD)
  • Congenital hypothyroidism
  • Cystic fibrosis (CF)
  • Congenital adrenal hyperplasia (CAH)
  • Galactosaemia
  • Biotinidase deficiency
  • Severe combined immune deficiency (SCID)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Describe Down syndrome facies and features

A

Clinodactyly (curved 5th finger), single palmar crease, hyperflexible joints
Microcephaly, brachycephaly, flat face, excess neck skin, epicanthic folds
Up-slanting palpebral fissures, Brushfield spots, cataracts, refractive errors
Small nose, large tongue, hypoplastic teeth
Small ears, hearing loss, short neck, hypogonadism, hypoplastic pelvis, wide space between first and second toes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Child with a long, straight nose + flat tip, deep set eyes, broad forehead, small ears, triangular face think:

A
Alagille (AD - JAG1)
Associated with: 
Intrahepatic bile duct paucity
Vertebral arch defects
Growth retardation
Peripheral pulmonary stenosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Features of Turner Syndrome

A
Short 
Broad chest
Puffy hands and feet
Webbed neck
Short stature
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Noonan syndrome (Rasopathy) features and facies

A

Noonan (AD)
Face – hypertelorism, epicanthic folds, micrognathia, ear abnormalities (low), curly hair
Low hairline, short neck
Cardiac – pulmonary stenosis
In comparison to Turner syndrome - normal karyotype, ­mental retardation, M=F

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Williams (7p deletion)

A

Cocktail personality
Face – elfin face, flat bridge of nose, anteverted nairs, big lip, blue eyes
Idiopathic neonatal ­ hypercalcaemiaSpasticity, joint hypermobilityHypoplastic nails, dental issues, hypothyroidism, renal artery stenosis.Cardiac – supravalvular aortic stenosis, peripheral pulmonary stenosis, ASD, VSD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Neonatal hypercalcaemia is associated with

A

Williams

22
Q

Neonatal hypocalcaemia is associated with

A

22q11

23
Q

Hole in the iris is called

A

Coloboma

24
Q

Monobrow is called

A

Synophrys

25
Q

Small child with hypertelorism, epicanthic folds, micrognathia, ear abnormalities (low), curly hair

A

Noonan

26
Q

How do you screen for achondroplasia?

A
  • Skeletal survey
  • rhizomelic shortening (femur, humerus)
  • vertebral scalloping
  • horizontal acetabular roof with ‘mickey mouse ear’ iliac wings
  • metaphyseal flaring (trumpet bone)
  • trident hand
27
Q

How do you diagnose Prader-Willi?

A

Methylation study

28
Q

What syndrome is associated with hypermobility, midface hypoplasia, Pierre-Robin sequence and hearing loss?

A
  • Stickler syndrome
  • autosomal dominant, gene mutation causing defect in collagens type II, IX or XI
  • midface hypoplasia, Pierre-Robin sequence
  • severe myopia, glaucoma, cataracts, retinal detachment
  • hearing loss
  • hypermobile joints - early arthritis
29
Q

What are the features of Bardet-Biedl syndrome?

A
  • AR ciliopathy variable genes
  • Short, fat, stupid (intellectual disability)
  • Retinitis pigmentosa/dystrophy -> vision deteriorates
  • Polydactyly
  • Hypogonadism
30
Q

What are the features of Cornelia de Lange syndrome?

A
  • Mouth like foetal alcohol, but monobrow (synophrys) and upturned nose
  • Severe ID and self harm
  • Limb abnormalities, IUGR and short
  • Cardiac issues
  • Gut malrotation
31
Q

If you see unilateral facial microsomia (incomplete development of the ear, nose, soft palate, lip, and mandible on one side of the body) you should suspect…

A

Goldenhar (oculo-auricular-vertebral)

32
Q

Elfin facies:

A

Williams syndrome

  • Broad forehead
  • Blue eyes with stellate pattern iris
  • Short nose with a broad tip, full cheeks
  • Wide mouth with full lips and dental issues eg. missing teeth
33
Q

“Happy Puppet” phenotype

A

Angelman

  • “Hyper” i.e. hypertonic, hyper-smiling/laughing, hyper-electric (seizure)
  • “Retarded” profound mental and growth retardation
  • widely spaced teeth
34
Q

Screening for diabetes:

A

Retinopathy and diabetic nephropathy [urine sample, ophthalm] yearly from 5 years after diagnosis OR from 10 years age OR 2 years after diagnosis in adolescent

BP yearly

Lipids checked Q5y if child
>12 years/after puberty annually

Yearly FT and coeliac screen first 5 years then 2 yearly

Neuropathy, joint and skin problems, CV risk - examine!!

35
Q

Management of diabetes:

A

Short term:
Control - insulin/BSL record - may need to alter insulin regime
Sick day management, hypoglycaemia plan and travel plan (letters, contacts,suppliesO)

Longer term
Surveillance for complications
Ongoing education - EtOH safety, avoid smoking
Diet and exercise discussed
Medic alert
Vaccinations

Psychosocial support with diabetes youth groups diabetesyouth.org.nz
Diabetes NZ

Transition plan

36
Q

What cardiac malformations are associated with dextrocardia?

A

Cardiac: full mirror image, L-TGA, single ventricle with PS, TA, or TS, TOF, 2% “normal” anatomy

37
Q

Upper:lower segment ratio:

A

1.7 at birth
1 by age 10
0.8 by puberty

38
Q

Waddling gait:

A

A waddling gait is the style of walking that is seen in a patient with proximal myopathy.

It is characterised by:

  • broad-based gait with a duck-like waddle to the swing phase
  • the pelvis drops to the side of the leg being raised
  • forward curvature of the lumbar spine
  • marked body swing
  • This gait may also be seen in patients with congenital hip dislocation and pregnancy.
39
Q

Why does this patient have a foot drop?

A
Common peroneal nerve palsy
CMT (peripheral sensorymotor neuropathy)
L4/L5 lesion
Stroke
Distal myopathy
Multiple sclerosis
Muscular dystrophy
Peripheral motor neuropathy
40
Q

Palmar drift:

A

Eyes closed, arms out with palms up, positive is pronation/downwards

Cerebellar
Proprioception
Contralateral pyramidal tract lesion

41
Q

Fasciculation is seen in:

A

LOWER motor neuron illness

MND (SMA)
Motor root compression
Peripheral neuropathy
Primary myopathy
Thyrotoxicosis
42
Q

Glossitis:

A

B vitamin deficiencies esp B12
Folate
Iron

43
Q

BX causes:

A

Congenital and acquired

Congenital: Primary ciliary dyskinesia, CF, immune deficiency, structrual/obstructive
Acquired: infective (pertussis, measles, TB, HIV), foreign body, aspiration

44
Q

Think of Holt-Oram syndrome if:

A

Upper limb skeletal abnormalities and heart problem

45
Q

Cafe-au-lait spots:

A
Neurofibromatosis type 1 and 2
McCune Albright syndrome (coast of Maine)
Ataxia telangiectasia
fanconi anemia
Russell-silver syndrome
Tuberous sclerosis
Gaucher disease
Chediak – Higashi syndrome
Turner syndrome
Proteus syndrome
Legius syndrome
LEOPARD
Bloom syndrome
46
Q

HSM causes:

A
  1. Malignancy – leukaemia, lymphoma
  2. Haematological – thalassemia
  3. Infection – EBV, TORCH
  4. Storage diseases – Gaucher (long-term), Niemann-Pick, mucopolysaccharidoses
  5. Respiratory - cystic fibrosis
  6. Congenital - congenital hepatic fibrosis
47
Q

What causes of liver disease do you consider in a child if the onset is >5yo?

A

Infectious - EBV, CMV, toxoplasmosis, hepatitis A, B, C
Metabolic - Wilson disease, hereditary fructose intolerance, cystic fibrosis, AAT deficiency
Autoimmune chronic active hepatitis
- Associated with thyroiditis, glomerulonephritis, erythema nodosum
Primary sclerosis cholangitis from IBD (>10 years)
- Associated with arthritis, erythema nodosum, uveitis

48
Q

What causes of liver disease do you consider in a child if the onset is <5yo?

A

Infection - TORCH, echovirus, adenovirus, parvovirus B19, E. coli UTI
Structural – extra hepatic biliary atresia, choledochal cyst, Alagille
Metabolic - Cystic fibrosis, AAT deficiency, hereditary fructose intolerance, Galactosaemia, tyrosinaemia, Niemann-Pick, Glycogen storage diseases - type IA & IV (Von Gierke & Anderson)
Endocrine – hypothyroidism, hypopituitarism
Iatrogenic - TPN
Idiopathic neonatal hepatitis (25%)

49
Q

What are the vascular malformation syndromes?

A
"Weber" (Sturge-Weber syndrome [SWS], Parkes-Weber syndrome [PKWS], Klippel-Trénaunay-Weber [KTW] syndrome), 
Proteus syndrome (PS), and cerebral cavernous malformations (CCM)
50
Q

What are the haemangioma syndromes?

A

Facial haemangioma PHACE(S) syndrome

Posterior fossa brain malformations
Haemangiomas, particularly large, segmental facial lesions
Arterial anomalies
Cardiac (heart) anomalies and coarctation of the aorta
Eye abnormalities and Endocrine abnormalities
(S)ternal cleft, supraumbilical raphe, or both

Perineal/lumbosacral haemangioma PELVIS or LUMBAR syndrome

Perineal haemangioma
External genitalia malformations
Lipomyelomeningocele
Vesicorenal abnormalities
Imperforate anus
Skin tag

Lower body hemangioma and other cutaneous defects
Urogenital anomalies, ulceration
Myelopathy
Bony deformities
Anorectal malformations, arterial anomalies
Renal anomalies