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
Neonatal hypercalcaemia is associated with
Williams
Neonatal hypocalcaemia is associated with
22q11
Hole in the iris is called
Coloboma
Monobrow is called
Synophrys
Small child with hypertelorism, epicanthic folds, micrognathia, ear abnormalities (low), curly hair
Noonan
How do you screen for achondroplasia?
- Skeletal survey
- rhizomelic shortening (femur, humerus)
- vertebral scalloping
- horizontal acetabular roof with ‘mickey mouse ear’ iliac wings
- metaphyseal flaring (trumpet bone)
- trident hand
How do you diagnose Prader-Willi?
Methylation study
What syndrome is associated with hypermobility, midface hypoplasia, Pierre-Robin sequence and hearing loss?
- 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
What are the features of Bardet-Biedl syndrome?
- AR ciliopathy variable genes
- Short, fat, stupid (intellectual disability)
- Retinitis pigmentosa/dystrophy -> vision deteriorates
- Polydactyly
- Hypogonadism
What are the features of Cornelia de Lange syndrome?
- Mouth like foetal alcohol, but monobrow (synophrys) and upturned nose
- Severe ID and self harm
- Limb abnormalities, IUGR and short
- Cardiac issues
- Gut malrotation
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…
Goldenhar (oculo-auricular-vertebral)
Elfin facies:
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
“Happy Puppet” phenotype
Angelman
- “Hyper” i.e. hypertonic, hyper-smiling/laughing, hyper-electric (seizure)
- “Retarded” profound mental and growth retardation
- widely spaced teeth
Screening for diabetes:
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!!
Management of diabetes:
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
What cardiac malformations are associated with dextrocardia?
Cardiac: full mirror image, L-TGA, single ventricle with PS, TA, or TS, TOF, 2% “normal” anatomy
Upper:lower segment ratio:
1.7 at birth
1 by age 10
0.8 by puberty
Waddling gait:
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.
Why does this patient have a foot drop?
Common peroneal nerve palsy CMT (peripheral sensorymotor neuropathy) L4/L5 lesion Stroke Distal myopathy Multiple sclerosis Muscular dystrophy Peripheral motor neuropathy
Palmar drift:
Eyes closed, arms out with palms up, positive is pronation/downwards
Cerebellar
Proprioception
Contralateral pyramidal tract lesion
Fasciculation is seen in:
LOWER motor neuron illness
MND (SMA) Motor root compression Peripheral neuropathy Primary myopathy Thyrotoxicosis
Glossitis:
B vitamin deficiencies esp B12
Folate
Iron
BX causes:
Congenital and acquired
Congenital: Primary ciliary dyskinesia, CF, immune deficiency, structrual/obstructive
Acquired: infective (pertussis, measles, TB, HIV), foreign body, aspiration
Think of Holt-Oram syndrome if:
Upper limb skeletal abnormalities and heart problem
Cafe-au-lait spots:
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
HSM causes:
- Malignancy – leukaemia, lymphoma
- Haematological – thalassemia
- Infection – EBV, TORCH
- Storage diseases – Gaucher (long-term), Niemann-Pick, mucopolysaccharidoses
- Respiratory - cystic fibrosis
- Congenital - congenital hepatic fibrosis
What causes of liver disease do you consider in a child if the onset is >5yo?
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
What causes of liver disease do you consider in a child if the onset is <5yo?
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%)
What are the vascular malformation syndromes?
"Weber" (Sturge-Weber syndrome [SWS], Parkes-Weber syndrome [PKWS], Klippel-Trénaunay-Weber [KTW] syndrome), Proteus syndrome (PS), and cerebral cavernous malformations (CCM)
What are the haemangioma syndromes?
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
