Clinical 4 Flashcards
Early diastolic murmur, left 3rd intercostal space:
Pulmonary regurgitation - post pulmonary stenosis/right ventricular outflow tract obstruction surgery OR aortic regurgitation - best heard at the third left intercostal space
Diastolic murmur apex:
Mitral stenosis - best heard at the apex - associated with a large left-to-right shunt in a ventricular septal defect, patent ductus arteriosus
Diastolic murmur LLSE:
Tricuspid stenosis - best heard at lower left sternal edge - associated with atrial septal defect, TAPVR, endocardial cushion defect
Continuous murmur:
Aortopulmonary/arteriovenous collection Patent ductus arteriosus – with bounding pulses Arteriovenous fistula Persistent truncus (rare) BT Shunt – check for scars
Apical systolic murmur:
Mitral regurgitation Ventricular septal defect Vibratory innocent murmur Mitral valve prolapse Aortic stenosis
Facies for SMA:
SMA - bright and alert, may have O2
Facies for neuromuscular/muscular disorders:
NMD or muscular disorders - ptosis, opthalmoplegia, facial diplegia, tented mouth or myopathic facies
Check for tongue fasciculation
What are ‘myopathic’ facies?
Expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth
“Strong floppy” baby makes you think:
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
Weak floppy baby makes you think:
Anterior horn - SMA
Peripheral nerve - hereditary sensory and motor neuropathy type 3, Guillain-Barre syndrome
Neuromuscular junction - myasthenia
Muscle - congenital, hereditary
Floppy baby complications?
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
Complications of obesity?
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
Macrocephaly causes?
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
First line investigations for large liver
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
Newborn screening is for:
- 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)
Describe Down syndrome facies and features
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
Child with a long, straight nose + flat tip, deep set eyes, broad forehead, small ears, triangular face think:
Alagille (AD - JAG1) Associated with: Intrahepatic bile duct paucity Vertebral arch defects Growth retardation Peripheral pulmonary stenosis
Features of Turner Syndrome
Short Broad chest Puffy hands and feet Webbed neck Short stature
Noonan syndrome (Rasopathy) features and facies
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
Williams (7p deletion)
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