Long term medical conditions Flashcards
1
Q
Describe the karyotype and features of Klinefelter’s syndrome
A
47, XXY
- Tall
- Lack of secondary sexual characteristics
- Small, firm testes
- Infertility
- Gynaecomastia
- Wider hips
- Weaker muscles
- Reduced libido
2
Q
Describe the typical presentation of Kallman’s syndrome
A
Anosmia with delayed puberty in a boy.
3
Q
What is the genotype for androgen insensitivity syndrome?
A
46XY (male)
4
Q
What is the most common malignancy in children?
A
Acute lymphoblastic leukaemia (ALL)
5
Q
Describe the features of ALL
A
- Anaemia - lethargy and pallor
- Neutropenia - frequent infections
- Thrombocytopenia - easy bruising, petechiae
6
Q
Outline the poor prognostic factors for ALL
A
- Age < 2 or > 10
- WBC > 20 at diagnosis
- T or B cell surface markers
- Non-Caucasian
- Male
7
Q
Describe the classical features of Patau syndrome (trisomy 13)
A
- Microcephalic, small eyes
- Cleft lip/palate
- Polydactyly
- Rocker bottom feet
8
Q
Describe the classical features of Edward’s syndrome (trisomy 18)
A
- Micrognathia (small lower jaw)
- Low-set ears
- Rocker bottom feet
- Overlapping fingers
9
Q
Describe the classical features of fragile X syndrome
A
- Delay in speech and language development
- Learning disability
- Macrocephaly
- Long, narrow face
- Large ears
- Macro-orchidism
- Hypotonia
- Hypermobility
- Autism more common
- ADHD
- Seizures
10
Q
Describe the classical features of Noonan syndrome
A
- Webbed neck
- Pectus excavatum
- Short stature
- Broad forehead
- Hypertelorism (wide space between the eyes)
- Small chin
- Prominent nasolabial folds
- Pulmonary stenosis
- Cryptorchidism (undescended testes) can lead to infertility in men
- Learning disability
- Bleeding disorders
- Lymphoedema
- Increased risk of leukaemia and neuroblastoma
11
Q
Describe the classical features of Pierre-Robin syndrome
A
- Micrognathia
- Posterior displacement of tongue
- Cleft palate
12
Q
Describe the classical features of Prader-Willi syndrome
A
- Hypotonia as an infant
- Hypogonadism
- Constant insatiable hunger that leads to obesity
- Mild-moderate learning disability
- Fairer, soft skin that is prone to bruising
- Mental health problems, particularly anxiety
- Dysmorphic features
- Narrow forehead
- Almond shaped eyes
- Strabismus (squint)
- Thin upper lip
- Downturned mouth
13
Q
Describe the classical features of William’s syndrome
A
- Short stature
- Broad forehead
- Starburst eyes
- Wide mouth with widely spaced teeth and a big smile
- Mild learning disability
- Friendly, extrovert and sociable personality
- Hypercalcaemia
- Supravalvular aortic stenosis
- Hypertension
14
Q
Describe the classical features of Cri du chat syndrome
A
- Characteristic ‘cat like cry’ due to larynx and neurological problems
- Feeding difficulties and poor weight gain
- Learning difficulties
- Microcephaly and Micrognathia
- Hypertelorism
15
Q
Describe the features of atrial septal defect (ASD)
A
- SOB.
- Lethargy.
- Poor appetite.
- Poor growth.
- Increased susceptibility to respiratory infections.
16
Q
Describe ASD murmur
A
Ejection systolic, crescendo-decrescendo murmur loudest at the upper left sternal border, with fixed splitting of S2.
17
Q
Describe VSD murmur
A
Pansystolic murmur in lower left sternal border.
18
Q
Describe coarctation of the aorta murmur
A
Crescendo-decresscendo murmur in the upper left sternal border.
19
Q
Describe PDA murmur
A
Continuous crescendo-decrescendo “machinery” murmur that may continue during the second heart sound.
20
Q
Describe pulmonary stenosis murmur
A
Ejection systolic murmur in the upper left sternal border.
21
Q
List the acyanotic congenital heart diseases
A
- VSD (most common in infants)
- ASD
- PDA
- Coarctation of the aorta
- Aortic valve stenosis
22
Q
List the cyanotic congenital heart diseases
A
- Tetralogy of Fallot (most common)
- Transposition of the great arteries
- Tricuspid atresia
23
Q
What are the 4 characteristic features of tetralogy of fallot (TOF)?
A
- VSD
- RV hypertrophy
- Pulmonary stenosis (RV outflow tract obstruction)
- Overriding aorta
24
Q
What are hypercyanotic ‘tet’ spells in TOF and why do they occur?
A
- Tachypnoea and severe cyanosis that may result in loss of consciousness.
- Typically occur when infant is upset, in pain or has a fever.
- Due to near occlusion of RV outflow tract.
25
Describe the 2 main features of dyskinetic cerebral palsy
- Athetoid movements: slow writhing movements of hands and feet, difficulty holding objects.
- Oro-motor problems: drooling.
26
You are speaking to a 24-year-old man who is known to have haemophilia A. His wife has had genetic testing and was found not to be a carrier of haemophilia. He asks you what the chances are of his future children developing haemophilia. What is the correct answer?
0%
27
Outline the management for spasticity in children with cerebral palsy
- Diazepam
- Baclofen
- Botulinum toxin type A
- Orthopaedic surgery
- Selective dorsal rhizotomy
28
A four-year-old child with poorly controlled asthma attends GP surgery with his mother due to increasing frequency of his asthma exacerbations. He is already on salbutamol inhaler as required and beclometasone inhaler 200mcg/day. He uses these devices with a spacer and has good technique. What is the next best step in his management?
Add in a leukotriene receptor antagonist.
29
List the causes of snoring in children
- Obesity
- Nasal problems: polyps, deviated septum, hypertrophic nasal turbinates
- Recurrent tonsillitis
- Down's syndrome
- Hypothyroidism
30
Cystic fibrosis can cause which other condition?
T1D
31
Describe features of benign rolandic epilepsy
- Form of childhood epilepsy that typically occurs between the age of 4 and 12 years.
- Seizures characteristically occur at night.
- Seizures are typically partial (e.g. paraesthesia affecting the face) but secondary generalisation may occur (i.e. parents may only report tonic-clonic movements).
- Focal seizure, involving their face, drooling, and one side or one limb twitching.
- Seizures stop by adolescence.
32
How often should chest physiotherapy and postural drainage ideally be performed in patients with CF?
At least twice a day
33
Define West syndrome
Infantile spasms - type of childhood epilepsy which typically presents in the first 4 to 8 months of life and is more common in male infants. They are often associated with a serious underlying condition and carry a poor prognosis.
34
Outline the features of infantile spasms
- Characteristic 'salaam' attacks: flexion of the head, trunk and arms followed by extension of the arms.
- Lasts only 1-2 seconds but may be repeated up to 50 times.
- Progressive mental handicap.
35
Outline the investigations and findings for infantile spasms
- EEG shows hypsarrhythmia in two-thirds of infants.
- CT demonstrates diffuse or localised brain disease in 70% (e.g. tuberous sclerosis).
36
What is the first line therapy for infantile spasms?
Vigabatrin
37
Describe the characteristic dysmorphic and other features of Down’s syndrome (trisomy 21)
- Face: upslanting palpebral fissures, prominent epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face.
- Flat occiput.
- Brachycephaly.
- Single palmar crease, pronounced 'sandal gap' between big and first toe.
- Hypotonia.
- Short stature and short neck.
- Congenital heart defects e.g. endocardial cushion defect, ventricular septal defect, secundum atrial septal defect, TOF, isolated PDA.
- Duodenal atresia.
- Hirschsprung's disease.
38
Outline the later complications of Down’s syndrome
- Subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour.
- Learning disability.
- Short stature.
- Repeated respiratory infections (+hearing impairment from glue ear and recurrent otitis media).
- Visual problems e.g. myopia, strabismus and cataracts.
- Acute lymphoblastic leukaemia.
- Hypothyroidism.
- Alzheimer's disease.
- Atlantoaxial instability.
39
What murmur is Turner’s syndrome associated with?
Ejection systolic murmur due to bicuspid aortic valve.
40
Outline the inheritance pattern of mitochondrial diseases
- Inheritance is only via the maternal line as the sperm contributes no cytoplasm to the zygote (maternal inheritance).
- None of the children of an affected male will inherit the disease.
- All of the children of an affected female will inherit the disease.
41
Give one example of a mitochondrial disease
Leber’s optic atrophy
42
Describe the presenting features of cystic fibrosis
- Neonatal period: meconium ileus, prolonged jaundice.
- Recurrent chest infections.
- Malabsorption: steatorrhoea, FTT.
43
Outline other features seen in cystic fibrosis
- Short stature
- Diabetes
- Delayed puberty
- Rectal prolapse
- Nasal polyps
- Male infertility, female subfertility
44
Outline the features of PDA
- Left subclavicular thrill
- Continuous machinery murmur
- Large volume, bounding, collapsing pulse
45
Which part of the brain is damaged in dyskinetic cerebral palsy?
Basal ganglia and the substantia nigra
46
Which cardiac complication is associated with Fragile X syndrome?
Mitral valve prolapse
47
What is a thyroglossal cyst?
A fluid filled cyst in the midline of the neck caused by failure of thyroglossal duct to close.
48
How would you differentiate a thyroglossal cyst from another neck lump on examination?
Thyroglossal cysts move up when tongue is protruded.
49
What is a brachial cyst?
A congenital abnormality arising when the second brachial cleft fails to properly form during foetal development, causing a fluid filled cyst to form between the angle of the jaw and the sternocleidomastoid muscle in the anterior triangle of the neck.
50
What is the average age of diagnosis for retinoblastoma?
18 months
51
Describe the features of retinoblastoma
- Absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom.
- Strabismus (squint).
- Visual problems.
52
Outline management for retinoblastoma
- Enucleation (surgical removal of eye).
- Others: external beam radiation therapy, chemotherapy and photocoagulation.
53
What is the peak incidence of ALL?
2-5 years
54
Non-organic or functional abdominal pain is common in what age?
Over the age of 5
55
Define Lennox-Gastaut syndrome
- Severe form of epilepsy, beginning in early childhood, characterised by multiple types of seizures and developmental delay.
- Atypical absences, falls, jerks.
56
What is the first line medication for most forms of epilepsy (except focal seizures)?
Sodium valproate
57
What is the first line medication for focal seizures?
Carbamazepine
58
List the causes of clubbing in children
- Hereditary clubbing
- Cyanotic heart disease
- Infective endocarditis
- Cystic fibrosis
- Tuberculosis
- Inflammatory bowel disease
- Liver cirrhosis
59
What is the gold standard investigation for CF?
Sweat test
60
Name two types of bone cancer
- Osteosarcoma
- Ewing sarcoma
61
Name 4 oncological emergencies
- SVC syndrome
- Spinal cord compression
- Tumour lysis syndrome
- Febrile neutropenia
62
Outline the features of nephrotic syndrome
- Hypoalbuminaemia
- Heavy proteinuria
- Generalised oedema
- Hypercholesterolaemia, hyperlipidaemia
- Hyper-coagulability
63
What is the most common cause of nephrotic syndrome in children?
Minimal change disease
64
Outline secondary causes of nephrotic syndrome
Intrinsic kidney disease:
- Focal segmental glomerulosclerosis
- Membranoproliferative glomerulonephritis
Underlying systemic illness:
- Henoch schonlein purpura (HSP)
- Diabetes
- Infection, such as HIV, hepatitis and malaria
65
What is the management for minimal change disease?
Steroids e.g. prednisolone
66
Outline the general management for nephrotic syndrome
- High dose steroids (i.e. prednisolone)
- Low salt diet
- Diuretics may be used to treat oedema
- Albumin infusions may be required in severe hypoalbuminaemia
- Antibiotic prophylaxis may be given in severe cases
67
In steroid resistant children, what is the management for nephrotic syndrome?
ACE inhibitors and immunosuppressants such as cyclosporine, tacrolimus or rituximab.
68
Name some complications of nephrotic syndrome
- Hypovolameia
- Thrombosis
- Infection
- AKI or CKD
- Relapse
69
Outline the features of nephritic syndrome
- Proteinuria
- Haematuria
- Hypertension
- Impaired kidney function
70
What are the two most common causes of nephritic syndrome in children?
- Post-streptococcal glomerulonephritis
- IgA nephropathy (Berger’s disease)
71
Describe the cause of post-streptococcal glomerulonephritis
- Occurs 1-3 weeks after β-haemolytic streptococcus infection, such as tonsillitis caused by Streptococcus pyogenes.
- Immune complexes made up of streptococcal antigens, antibodies and complement proteins get stuck in the glomeruli of the kidney and cause inflammation.
- This inflammation leads to an acute deterioration in renal function, causing an AKI.
72
What is the treatment for post-streptococcal glomerulonephritis?
Supportive
73
What are the complications of post-streptococcal glomerulonephritis?
- Hypertension
- Oedema
74
Which condition is IgA nephropathy related to?
HSP
75
Describe the histological findings for IgA nephropathy
IgA deposits and glomerular mesangial proliferation - leading to nephritis.
76
Outline the management of IgA nephropathy
- Supportive treatment of the renal failure.
- Immunosuppressant medications such as steroids and cyclophosphamide to slow the progression of the disease.
77
What are the 2 types of polycystic kidney disease?
- Autosomal recessive polycystic kidney disease (ARPKD) - presents in neonates and picked up on antenatal scans.
- Autosomal dominant polycystic kidney disease (ADPKD) - presents in adulthood.
78
What mutation causes ARPKD?
- Mutation in the polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6.
- This gene codes for the fibrocystin/polyductin protein complex (FPC), which is responsible for the creation of tubules and the maintenance of healthy epithelial tissue in the kidneys, liver and pancreas.
79
Describe the features seen in ARPKD
- Cystic enlargement of the renal collecting ducts.
- Oligohydramnios, pulmonary hypoplasia and Potter syndrome (characterised by dysmorphic features such as underdeveloped ear cartilage, low set ears, a flat nasal bridge and abnormalities of the skeleton).
- Congenital liver fibrosis.
80
What is multicystic dysplastic kidney (MCDK)?
- Where one of the baby’s kidneys is made up of many cysts while the other kidney is normal.
- Usually the single healthy kidney is sufficient to lead a normal life.
- Often the cystic kidney will atrophy and disappear before 5 years of age.
- Having a single kidney can put the person at risk of urinary tract infections, hypertension and chronic kidney disease later in life.
81
What is the other name for chronic fatigue syndrome?
Myalgic encephalomyelitis (ME)
82
Describe the symptoms of chronic fatigue syndrome
- Sensitivity to light
- Headache
- Tender lymph nodes
- Fatigue and weakness
- Muscle and joint pain
- Inability to concentrate
- Insomnia
- Forgetfulness
- Mood swings
- Confusion
- Low-grade fever
- Depression
83
How long must the chronic tiredness last for chronic fatigue syndrome to be diagnosed?
> 6 months and other conditions excluded.
84
Define spasticity
Increased tone that is velocity-dependent. Meaning that there’s increased resistance in response to passive stretching of the affected muscles. In its severe form, the affected muscles are held in fixed flexion or extension.
85
At what age is cerebral palsy usually diagnosed?
12-24 months
86
Name the atopic conditions
- Asthma
- Eczema
- Hay fever/allergies
87
At what time of day are symptoms of asthma typically worse?
At night and early morning (diurnal variability)
88
A wheeze only related to coughs and colds is more suggestive of what?
Viral induced wheeze
89
Is the wheeze characteristic of asthma typically bilateral or unilateral?
Bilateral - a unilateral wheeze is suggestive of a focal lesion, inhaled foreign body or infection.
90
When there is high or intermediate probability of asthma, what is the next step for investigation?
A trial of treatment can be implemented and if the treatment improves symptoms a diagnosis can be made.
91
Which investigations can be used when there is an intermediate probability of asthma or diagnostic doubt?
- Spirometry with reversibility testing (in children aged over 5 years).
- Direct bronchial challenge test with histamine or methacholine.
- Fractional exhaled nitric oxide (FeNO).
- Peak flow variability measured by keeping a diary of peak flow measurements several times a day for 2 to 4 weeks.
92
What is the aim for the long term management of asthma?
To achieve no symptoms or exacerbations on the lowest dose and number of treatments.
93
A poorly controlled asthmatic who states they are taking their inhalers as prescribed. What could be the cause of their poor asthma control?
Poor inhaler technique
94
Name another type of inhaler other than metered dosed inhaler (MDI)
Dry powder inhaler
95
Name two types of preschool wheeze
- Episodic viral wheeze:wheezing only in response to viral infection and no interval symptoms.
- Multiple trigger wheeze: wheeze in response to viral infection but also to other triggers such as exposure to aeroallergens and exercise.
96
If a true allergy is excluded, what could be causing the patients symptoms?
Somatisation disorder
97
What can be done to prevent food allergies from developing?
Regular exposure to an allergen through food and preventing exposure to that allergen through the skin barrier.
98
What questions would be important to ask when diagnosing an allergy?
- Timing after exposure to the allergen.
- Previous and subsequent exposure and reaction to the allergen.
- Symptoms of rash, swelling, breathing difficulty, wheeze and cough.
- Previous personal and family history of atopic conditions and allergies.
99
What is immunotherapy with regards to allergy?
- Specialist centres may initiate a lengthy process of gradually exposing the patients to allergens over months.
- Aiming of reducing their reaction to certain foods or allergens.
100
What type of hypersensitivity reaction is allergic rhinitis?
IgE-mediated type 1
101
Name the types of allergic rhinitis
- Seasonal, for example hay fever.
- Perennial (year round), for example house dust mite allergy.
- Occupational, associated with the school or work environment.
102
Describe the features of allergic rhinitis
- Runny, blocked and itchy nose.
- Sneezing.
- Itchy, red and swollen eyes.
103
Outline the management for allergic rhinitis
Oral antihistamines are taken prior to exposure to reduce allergic symptoms:
- Non-sedating antihistamines include cetirizine, loratadine and fexofenadine.
- Sedating antihistamines include chlorphenamine (Piriton) and promethazine.
Nasal corticosteroid sprays such as fluticasone and mometasone can be taken regularly to suppress local allergic symptoms.
Nasal antihistamines may be a good option for rapid onset symptoms in response to a trigger.
104
Where does eczema generally affect in infants?
Around the scalp, face and flexures
105
Where does eczema usually affect in toddlers and school-aged children?
Flexures (creases at the elbows, knees, wrists and neck), mouth, chin.
106
What does Lichenification indicate?
Long-standing, poorly controlled eczema from excessive scratching or rubbing.
107
Outline the daily care/management of eczema
- Daily bathing with emollients. Do not use soap or shampoo.
- Daily use of fragrance-free and alcohol-free moisturisers/emollients (e.g., Aveeno, Dermol 500, Cetraben).
- Avoid skin trauma – keep fingernails short, use of mittens to prevent scratching.
- Preventative treatment:
Maintenance regimen of topical corticosteroids to reduce the frequency of flares.
Topical calcineurin inhibitors (e.g., tacrolimus) – requires specialist care.
108
Outline management of eczema flares
- Emollients for bathing and generous moisturising.
- Mild: Mild topical corticosteroid (hydrocortisone 1%).
- Moderate: Moderately potent topical corticosteroid (e.g., betamethasone valerate 0.025%) for inflammation. Non-sedating antihistamine (e.g., cetirizine) for severe itch/urticaria.
- Severe: Potent topical corticosteroid (e.g., betamethasone valerate 0.1%) for inflammation. Non-sedating antihistamine (e.g., cetirizine) for severe itch/urticaria. Sedating antihistamine (e.g. chlorphenamine) if itching is severe or affecting sleep.
109
What are the complications associated with eczema?
- Bacterial infection with Staphylococcus aureus.
- Herpes simplex virus (HSV) infection (eczema herpeticum).
110
Differentials of a pan-systolic murmur
- Mitral regurgitation.
- Tricuspid regurgitation.
- VSD.
111
Differentials for an ejection-systolic murmur
- Aortic stenosis.
- Pulmonary stenosis.
- Hypertrophic obstructive cardiomyopathy.
112
What causes splitting of second heart sound?
When the pulmonary valve closes slightly later than the aortic valve, which can be normal with inspiration, however a “fixed split” second heart sound means the split does not change with inspiration and expiration.
113
Why does ASD cause a fixed split of S2?
Because blood is flowing from the left atrium into the right atrium across the atrial septal defect, increasing the volume of blood that the right ventricle has to empty before the pulmonary valve can close. This doesn’t vary with respiration.
114
Describe TOF murmur
Ejection systolic murmur due to pulmonary stenosis.
115
What causes cyanotic heart disease?
When the blood bypasses the pulmonary circulation and the lungs, due to a right-to-left shunt. This allows deoxygenated blood to enter the systemic circulation.
116
Why is ASD, VSD and PDA usually not cyanotic?
Because the pressure of the left side of the heart is greater than the right, preventing a right-to-left shunt.
117
Describe the aetiology of Eisenmenger syndrome
Pulmonary hypertension causes the pulmonary pressure to be greater than systemic pressure, creating a right-to-left shunt, leading to cyanosis.
118
Why is transposition of the great arteries always cyanotic?
Because the right side of the heart pumps blood directly into the aorta and systemic circulation.
119
Which drugs can be used to maintain the patency of the ductus arteriosus in duct-dependent congenital heart disease, in patients awaiting surgery?
Alprostadil (prostaglandin E1) and dinoprostone (prostaglandin E2).
120
What is the gold standard investigation for ASD or VSD diagnosis?
Echocardiogram
121
Which complication of Down’s syndrome increases the risk of sudden neck dislocation?
Atlantoaxial instability
122
List the cardiac complications associated with Down’s syndrome
- Endocardial cushion defect (most common) aka atrioventricular septal canal defects.
- Ventricular septal defect.
- Secundum atrial septal defect.
- Tetralogy of Fallot.
- Isolated patent ductus arteriosus.
123
Define genetic anticipation
When a hereditary disease has an earlier age of onset and greater severity through successive generations.
124
Give examples of genetic anticipation
Trinucleotide repeat disorders e.g. Huntington’s disease, myotonic dystrophy and fragile X syndrome.
125
What is the genotype for Turner’s syndrome?
45, XO
126
Describe the features associated with Turner’s syndrome
- Short stature.
- Shield chest, widely spaced nipples.
- Webbed neck.
- Bicuspid aortic valve (15%), coarctation of the aorta (5-10%). Increased risk of aortic dilatation and dissection.
- Primary amenorrhoea and delayed/absent puberty.
- Downward sloping eyes with ptosis.
- Cubitus valgus.
- Cystic hygroma.
- High-arched palate.
- Short fourth metacarpal.
- Multiple pigmented naevi.
- Lymphoedema in neonates (especially feet).
- Gonadotrophin levels elevated.
- Hypothyroidism is much more common.
- Horseshoe kidney: the most common renal abnormality in Turner's syndrome.
- Mostly infertile.
- Hypertension, obesity and diabetes.
- Osteoporosis.
127
A female presents with a short stature and primary amenorrhoea. What’s the most likely diagnosis?
Turner’s syndrome
128
The haemorrhagic or thrombotic complications of ALL are due to what?
DIC
129
What is usually the treatment of choice for pulmonary stenosis?
Balloon valvuloplasty via a venous catheter.
130
The degree of cyanosis in TOF is mostly related to the severity of which defect?
Pulmonary stenosis
131
Give an example of a chromosomal deletion disorder
Cri du chat syndrome
132
Give an example of a chromosomal deletion disorder
Charcot-Marie-Tooth disease
133
Give an example of a chromosomal translocation disorder
“Philadelphia chromosome” translocation in acute myeloid leukaemia
134
Define Mosaicism
- Chromosomal abnormality actually happens after conception.
- The abnormality occurs in a portion of cells in the body and not in others.
- The person therefore has different genetic material in different cells in their body.
- When a person has two or more genetically different sets of cells in his or her body.
135
Outline the MDT involvement for patients with Down’s syndrome
- Occupational therapy
- Speech and language therapy
- Physiotherapy
- Dietician
- Paediatrician
- GP
- Health visitors
- Cardiologist for congenital heart disease
- ENT specialist for ear problems
- Audiologist for hearing aids
- Optician for glasses
- Social services for social care and benefits
- Additional support with educational needs
- Charities such as the Down’s Syndrome Association
136
Describe the routine follow up investigations for patients with Down’s syndrome
- Regular thyroid checks (2 yearly)
- Echocardiogram to diagnose cardiac defects
- Regular audiometry for hearing impairment
- Regular eye checks
137
What is the average life expectancy for patients with Down’s syndrome?
58 years
138
What is the most significant risk factor for Down’s syndrome?
Maternal age
139
What is the most common congenital heart defect seen in Down’s syndrome?
Atrioventricular septal defect
140
What treatments can be used to help with features of Klinefelter syndrome?
- Testosterone injections improve many of the symptoms.
- Advanced IVF techniques have the potential to allow fertility.
- Breast reduction surgery for cosmetic purposes.
141
What are the 3 classic features of Turner’s syndrome?
Short stature, webbed neck and widely spaced nipples.
142
Outline the treatments for Tuner’s syndrome
- Growth hormone therapy can be used to prevent short stature.
- Oestrogen and progesterone replacement can help establish female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis.
- Fertility treatment.
143
Describe the inheritance pattern and aetiology of Marfan syndrome
- Autosomal dominant.
- Abnormal fibrillin (connective tissue component).
144
Describe the features of Marfan syndrome
- Tall stature
- Long neck
- Long limbs
- Long fingers (arachnodactyly)
- High arch palate
- Hypermobility
- Pectus carinatum or pectus excavatum
145
How can you test for arachnodactyly?
- Ask patient to cross their thumb across their palm, if the thumb tip goes past the opposite edge of the hand this indicates arachnodactyly.
- Ask them to wrap the thumb and fingers of one hand around the other wrist, if the thumb and fingers overlap this also indicates arachnodactyly.
146
Which conditions are associated with Marfan syndrome?
- Lens dislocation in the eye
- Joint dislocations and pain due to hypermobility
- Scoliosis of the spine
- Pneumothorax
- Gastro-oesophageal reflux
- Mitral regurgitation
- Aortic valve regurgitation
- Aortic aneurysms
147
Outline the management for Marfan syndrome
- Minimise BP and HR to reduce stress in heart and risk of complications (valve prolapse and aortic aneurysm) - avoid intense exercise, avoid caffeine, beta blockers, ARBs.
- Physiotherapy for hypermobility.
- Genetic counselling.
- Monitored for complications by yearly echocardiograms and review by an ophthalmologist.
148
Describe the mutation and inheritance pattern of Fragile X syndrome
- Mutation in FMR1 gene on X chromosome, which is important for cognitive development.
- X-linked.
149
Outline the management of Prader-Willi syndrome
- Growth hormone to improve muscle development and body composition.
- Dietician to limit access to food.
- Physiotherapist.
- Psychologists and psychiatrists.
150
Name the features of Angelman syndrome
- Delayed development and learning disability
- Severe delay or absence of speech development
- Coordination and balance problems (ataxia)
- Fascination with water
- Happy demeanour
- Inappropriate laughter
- Hand flapping
- Abnormal sleep patterns
- Epilepsy
- ADHD
- Dysmorphic features
- Microcephaly
- Fair skin, light hair and blue eyes
- Wide mouth with widely spaced teeth
151
What’s the inheritance pattern for William’s syndrome?
Random deletion of genetic material on chromosome 7.
152
What’s the most common cause of cyanosis in the newborn?
Transposition of the great arteries.
153
Define hypoplastic left heart syndrome
Abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract.
154
Survival for hypoplastic left heart syndrome is dependent on what?
- PDA
- Non-restrictive ASD
155
Define total anomalous pulmonary venous drainage (TAPVR)
A cyanotic congenital heart defect in which the pulmonary veins fail to make their normal connection to left atrium, resulting in the drainage of the pulmonary venous return into the systemic venous circulation via the right side of the heart.
156
Define tricuspid atresia
The absence of the tricuspid valve with associated hypoplasia of the right ventricle, due to absence of the inflow into the right ventricle.
157
What ECG sign would be present with tricuspid atresia?
Left axis deviation.
158
Outline the cause of congenital adrenal hyperplasia
Deficiency in 21-hydroxylase enzyme causing an underproduction of cortisol and aldosterone, but an overproduction of androgens e.g. testosterone.
159
Describe the presentation of congenital adrenal hyperplasia in neonates
- Females: virilised genitalia aka ‘ambiguous genitalia’.
- Hyponatraemia, hyperkalaemia and hypoglycaemia.
- Poor feeding, vomiting, dehydration, arrhythmias.
160
Describe the presentation of congenital adrenal hyperplasia in childhood/puberty
Female patients:
- Tall for their age
- Facial hair
- Absent periods
- Deep voice
- Early puberty
Male patients:
- Tall for their age
- Deep voice
- Large penis
- Small testicles
- Early puberty
Skin hyperpigmentation to due to high levels of ACTH
161
TGA vs TOF presentation
- TGA: cyanotic heart disease presenting within first days of life.
- TOF: cyanotic heart disease presenting at 1-2 months of age.
