Paeds 3 🧬👁️ 🩻 🐣 Flashcards
Endocrine and reproductive, ENT, Genetics, MSK, Neonatology
1
Q
what are the complications of undescended testis? (3)
A
infertility
torsion
testicular cancer
psychological
2
Q
what is the definition of undescended testis?
A
cryptorchidism (congenital undescended testis)
- when one or both testes are not present within the dependent portion of the scrotal sac
3
Q
What are the key diagnostic factors of undescended testis? (3)
A
- presence of risk factors (fam history, low birth weight, prematurity)
- malpositioned or absent testis
- palpable cryptorchid testis
- non palpable testis
4
Q
what are the risk factors of undescended testis? (3)
A
family history
prematurity
low birth weight
5
Q
what investigation may you consider for undescended testis?
A
USS
MRI
hormonal evaluation with hCG stimulation test
6
Q
how do you treat undescended testis?
A
retractile testicals - annual follow up examination
orchidopexy
7
Q
what is testicular torsion?
A
a urological emergency caused by the twisting of the testicle on the spermatic cord leading to constrictionof the vascular supply and time-sensitive ischaemia and/or necrosis of the testicular tissue.
8
Q
what age group is testicular torsion common in ?
A
13-15 years
9
Q
What are the clinical features of testicular torsion? (4) what sign will be seen on scrotal ultrasound?
A
Unilateral testicular pain - usually of sudden onset and may be referred to lower abdomen
intermittent or acute on and off pain
scrotal swelling or oedema
Absent cremasteric reflex
elevation and rotation of the testis
nausea and vomiting may be present
Bell-clapper deformity
Whirlpool sign
10
Q
what are the investigations for testicular torsion? What would you see?
A
urgent surgical exploration
grey-scale USS
power doppler USS
colour doppler USS
whirlpool sign
you could also consider urinalysis, FBC, CRP
11
Q
how do you treat testicular torsion?
A
treatment is with surgical exploration
12
Q
what is precocious puberty ?
A
when sexual characteristics appear before 8 years in girls and before 9 years in boys. (more common in females)
13
Q
what is thelarche?
A
the first stage of breast development
14
Q
what is adrenarche?
A
the first stage of pubic hair development
15
Q
what are the two types that precocious puberty can be divided into?
A
Gonadotrophin dependent (central/true) - due to premature activation of the hypothalamic-pituitary-gonadal axis, FSH and LH are raised
gonadotrophin independent (pseudo?false) - due to excess sex hormone, FSH and LH low
16
Q
what are the key diagnostic factors for precocious puberty? (4)
A
presence of risk factors
boys - testis >4 ml
girls - breast development
pubic and axillary hair
17
Q
what are the investigations for precocious puberty? (3)
A
bone age assessment
basal FSH and LH
serum testosterone
serum oestrogen
other investigations to consider: MRI brain, CT brain, urinary steroid profile
18
Q
how is precocious puberty treated?
A
for gonadotophin-dependent
1st line - evaluation and treat underlying cause plus a gonadotopin-releasing hormone agonist (leuprorelin or triptorelin)
if there is poor growth due to GnRH agonist then a GH (somatropin) can be added.
also a cyproterone can be added
For gonadotrophin-independent
if it is due to McCune-albright syndrome or testotoxicosis then the first line is a ketoconazole or cyproterone and the second line is an aromatase inhibitor plus an antiandrogen
if it is due to congential adrenal hyperplasia
first line is adjustment of ongoing hydrocortisone treatment
19
Q
in males with precocious puberty what would bilateral enlargement, unilateral enlargement and small testis suggest?
A
precocious puberty is rare in males and usually has an organic cause
bilateral enlargement - gonadotrophin release from intracranial lesion
unilateral enlargement - gonadal tumour
small testis - adrenal cause (tumour or hyperplasia)
20
Q
what is the most common cause of hypothyroidism in children?
A
autoimmune thyroiditis - juvenile hypothyroidism
21
Q
What are some causes of congenital hypothyroidism? (3)
A
Maldescent of the thyroid and athyrosis
dyshormonogenesis - an inborn error of of thyroid hormone synthesis
iodine deficiency
hypothyroidism due to TSH deficiency
22
Q
What are the clinical features of congenital hypothyroidism? (3)
A
usually asymptomatic unless picked up on screening otherwise symptoms include: FTT feeding problems prolonged jaundice constipation pale, cold, mottles dry skin coarse facies large tongue hoarse cry goitre umbilical hernia delayed development
23
Q
What are the clinical features of acquired hypothyroidism? (6)
A
females>males short stature/growth failure cold intolerance dry skin cold peripheries bradycardia thin dry hair goitre slow relaxing reflexes constipation delayed puberty obestiy
24
Q
how is congenital hypothyroidism screened for and picked up?
A
Guthrie test however this test will not pick up those have thyroid dysfunction secondary to pituitary abnormalities.
25
how is hypothyroidism treated ?
thyroxine - levothyroxine
26
what increases the risk of juvenile hypothyroidism?
Down or Turner syndrome and the development of other autoimmune conditions (RA, DM, vitiligo)
27
What is kallmanns syndrome? What is its inheritance pattern?
condition characterized by delayed or absent puberty and an impaired sense of smell. This disorder is a form of hypogonadotropic hypogonadism, which is a condition resulting from a lack of production of certain hormones that direct sexual development.
It is an X-linked recessive trait
28
What are the features of kallmann's syndrome? (3)
```
delayed puberty,
hypogonadism,
cryptorchidism
Anosmia
sex hormone levels are low
LH, FSH levels are inappropriately low
patients are typically of normal or above average height
```
cleft lip/palate and visual/hearing defects are also seen in some patients
29
what is delayed puberty defined as?
lack of any pubertal signs by the age of 13 in girls and 14 in boys.
it is more common in boys
30
What are some functional and organic causes of delayed puberty?
functional may be constitutional delay, underlying chronic disease, malnutrition, excessive exercise
organic either due to lack of serum gonadotrophin production or action (hypogonatrophic hypogonadism), or gonadal insufficiency with elevated gonadotrophins (hypergonadotrophic hypogonadism)
31
What tests would you do for delayed puberty? (2)
non-dominant wrist x-ray - helps to estimate skeletal age
| basal LH and FSH
32
how would constitutional delay puberty be treated?
first line - observation and monitoring
if needed:
in boys a short course of oxandrolone or testosterone can be given
in girl a short course of oestrogen can be given
33
how would organic causes of delayed puberty be treated?
boys: pubertal induction with testosterone
Girls: pubertal induction with oestrogen plus cyclic progesterone after breakthrough bleeding or adequate oestrogenisation
* girls with turners syndrome may also require a growth hormone (somatropin) and oxandrolone
34
what is congenital adrenal hyperplasia?
a family of inherited enzyme deficiencies that impair normal cortiocosteroid synthesis by the adrenal cortex.
35
What are the enzyme deficiencies that cause CAH?
21-hydroxylase (90% of cases)- responsible for converting progesterone into aldosterone and cortisol, excess progesterone gets converted into testosterone)
11-beta hydroxylase deficiency
17-alpha-hydroxylase deficiency
36
what is a complication of CAH?
80% of affected infants are unable to produce aldosterone, leading to salt water loss (low sodium and high potassium)
salt water losing crisis at 1-3 weeks
37
How does CAH present? (3)
virilisation of external genitalia in female (clitoral hypertrophy and variable fusion of the labia
in males - there may be an enlarged penis and the scrotum is pigmented
Skin pigmentation- low cortisol results in increased ACTH, stimulates melanin within skin cells
a salt water crisis presenting with vomiting and weight loss, floppiness and circulatory collapse
tall stature in 20% of male non-salt losers
both male and female non-salt losers also develop a muscular build, adult body odour, pubic hair and acne leading to a precocious puberty.
38
What are the investigations for CAH? (2)
serum 17-hydroxyprogesterone
serum 11-deoxycortisol
serum chemistry
biochemical abnormalities are low plasma sodium, high plasma potassium, metabolic acidosis, hypoglycaemia
39
How would you treat a mother of a fetus that is at risk of being affected by 21-hydroxylase deficiency?
dexamethasone - prior to the ninth week of gestation
(Prevents virilization of external genitalia)
40
What is the ongoing management for CAH?
for infants or children give a glucocorticoid - hydrocortisone
Aldosterone replacement- fludrocortisone
41
What is androgen insensitivity syndrome? What is the inheritance pattern?
it is an X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children to have a female phenotype.
42
What are the features of androgen insensitivity syndrome? (3)
primary amennorhoea
undescended testis causing groin swelling
Little or no axillary and pubic hair
breast development may occur as a result of the conversion of testosterone to oestradiol
43
how is androgen insensitivity syndrome managed? (3)
counselling - raise the child as a female
bilateral orchidectomy - increased risk of testicular cancer due to undescended testis
oestrogen therapy
44
What is the most common type of hypothalamic tumour?
Gliomas are the most common type - they result from abnormal growth of glial cells, which support nerve cells.
45
What are the symptoms of hypothalamic tumours? (3)
```
Euphoric sensations
failure to thrive
headache
hyperactivity
loss of body fat and appetite
```
some may cause vision loss
if the tumours block the flow of spinal fluid they may cause headaches and sleepiness from the fluid collecting in the brain.
46
What are some complications of obesity? (5)
orthopaedic - slipped upper femoral epiphysis, tibia vara (bow legs), abnormal foot structure and function
idiopathic intracranial hypertension (headaches, blurred optic disc margins)
hypoventilation syndrome (daytime somnolence; sleep apnoea; snoring; hypercapnia; heart failure)
gallbladder disease
PCOS
Type 2 DM
hypertension
abnormal blood lipids
47
How is obesity measured in children?
BMI percentile charts are required
consider tailored clinical intervention if BMI at 91st centile or above
consider assessing for comorbidities if BMI is above the 98th centile
48
What can cause obesity in children? (4)
```
lifestyle factors
asian children are four times more likely to be obese than white children
GH deficiency
hypothyroidism
Down's syndrome
Cushing's syndrome
Prada-Willi syndrome
```
49
when should medication for obesity be considered and what should be given?
it should be given in children over the age of 12 who have extreme BMI>40/m2 or if they have BMI>35kg/m2 and complications
they are only recommended when dietary, exercise and behavioural approaches have been used
Orlistat - lipase inhibitor
50
what is otitis media?
acute infection of the middle ear
51
How common is otitis media, what age is it common in?
most children will have at least one episode
| birth to 4 years (most common in age 6-24 months)
52
what children are prone to otitis media?
the ones who have short, horizontal or poorly functioning Eustachian tubes
53
what are the symptoms of otitis media? (3)
pain in the ear
fever
bright red and bulging tympanic membrane with loss of normal light reflexion
occasionally there is acute perforation of the ear drum with pus visible in the external canal
54
What pathogens cause otitis media? (3)
Most common are:
Haemophilus influenzae
Strep pneumoniae
Moraxella catarrhalis
Strep pyogenes
55
what are the complications of otitis media? (2)
mastoiditis
| meningitis
56
When should antibiotics be prescribed in children with otits media? What antibiotic is given first line?
Antibiotics should be prescribed immediately if:
Symptoms lasting more than 4 days or not improving
Systemically unwell but not requiring admission
Immunocompromise or high risk of complications secondary to significant heart, lung, kidney, liver, or neuromuscular disease
Younger than 2 years with bilateral otitis media
Otitis media with perforation and/or discharge in the canal
amoxicillin
or erythromycin/clarithromycin
57
what can recurrent ear infections lead to ?
otitis media with effusion. (OME or glue ear or serous otitis media)
58
how does glue ear present?
hearing loss is the presenting feature
| secondary problems such as speech and language delay, behavioural or balance problems may also be seen
59
How is glue ear diagnosed?
the ear drum will be dull and retracted, often with fluid level visible
conformation of glue ear can be gained by a flat trace on tympanometry, in conjunction with evidence of a conductive hearing loss on pure tone audiometry
60
how is glue ear treated (3)
usually resolves spontaneously
however insertion of ventilation tubes (grommets) can be beneficial
adenoidectomy can offer long term effects
61
What is the most common cause of hearing loss in children?
glue ear
62
what hearing tests do children have?
Newborn - Otoacoustic emission test (all newborns)
* if the otoacoustic emission is abnormal then do auditory brainstem response test (newborn and infants)
6-9 months - distraction test
18 months - 2.5 years - recognition of familiar objects
>2.5 years - performance testing
>2.5 years - speech discrimination tests
>3 years - pure tone audiometry
63
What is periorbital cellulitis? How does it present? How can it be distinguished from the sight and life-threatening orbital cellulitis?
Periorbital cellulitis (also known as preseptal cellulitis) is an eyelid and skin infection in front of the orbital septum (in front of the eye). It presents with swollen, red, hot skin around the eyelid and eye.
A CT scan
64
What causes peri-orbital cellulitis?
usually due to an infection either s.aureus or H.influenzae type B
may occur secondary to paranasal or dental abscess in older children.
65
How do you treat peri-orbital cellulitis in children?
admission to hospital for IV antibiotics (co-amoxiclav)
66
what are the complications of peri-orbital cellulitis?
it may develop into orbital cellulitis with evolving ocular proptosis, limited ocular movement and decreased visual acuity.
67
What are the risk factors for orbital cellulitis? (3)
Childhood
Previous sinus infection
Lack of Haemophilus influenzae type b (Hib) vaccination
Recent eyelid infection/ insect bite on eyelid (Peri-orbital cellulitis)
Ear or facial infection
68
How does orbital cellulitis present? (5)
```
Redness and swelling around the eye
Severe ocular pain
Visual disturbance
Proptosis
Ophthalmoplegia/pain with eye movements
Eyelid oedema and ptosis
Drowsiness +/- Nausea/vomiting
meningeal involvement (Rare)
```
69
what are the appropriate situations for genetic testing?
in a child who has features of a genetic disorder
the child is asymptomatic but is at risk of a genetic condition for which preventative or other therapeutic measures are available
the child is at risk for a genetic condition with a paediatric onset for which preventive therapeutic measures are not available
70
what are inappropriate situations for genetic testing in a child?
an asymptomatic child is at risk for a genetic condition that usually has onset in adult life for which therapeutic measures are not available e.g. huntingtons
Testing for carrier status e.g. siblings of a child with CF
genetic testing of children for the benefit of another family member should not be performed unless testing is necessary to prevent substantial harm to the family member
71
what are the different types of chromosome testing? (2)
Karyotype analysis
Fluorescence in situ hybridization (FISH)
Molecular kayotyping using microarrays
72
What is down's syndrome?
Down’s Syndrome is caused by three copies of chromosome 21. It is also called trisomy 21. It gives characteristic dysmorphic features and is associated with a number of associated conditions. The extent to which the person is affected and the associated conditions they have vary between individuals.
73
What are the clinical features of Down's Syndrome? (5)
Hypotonia (reduced muscle tone)
Brachycephaly (small head with a flat back)
Short neck
Short stature
Flattened face and nose
Prominent epicanthic folds
Upward sloping palpebral fissures
Small, low set ears
Single palmar crease
Epicanthic folds are folds of skin covering the medial portion of the eye and eyelid. The palpebral fissures are the gaps between the lower and upper eyelid.
74
What conditions are associated with Down syndrome? (5)
```
Learning disability
Recurrent otitis media
Deafness. Eustachian tube abnormalities lead to glue ear and conductive hearing loss.
Visual problems such myopia, strabismus and cataracts
Hypothyroidism occurs in 10 – 20%
Cardiac defects affect 1 in 3, particularly AVSD
Atlantoaxial instability
Leukaemia is more common in children with Down’s
Dementia is more common in adults with Down’s
Hirschsprung’s disease
```
75
what are the cardiac complications of Down's Syndrome? (5)
multiple cardiac problems may be present
endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
ventricular septal defect (c. 30%)
secundum atrial septal defect (c. 10%)
tetralogy of Fallot (c. 5%)
isolated patent ductus arteriosus (c. 5%)
76
What are the complications of Down syndrome later in life? (3)
```
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 difficulties
short stature
repeated respiratory infections (+hearing impairment from glue ear)
acute lymphoblastic leukaemia
hypothyroidism
Alzheimer's disease
atlantoaxial instability
```
77
What is the screening for down's syndrome?
antenatal screening
- first trimester - the combined test is now standard: nuchal translucency measurement (>6mm) and serum B-HCG (high) and pregnancy associated plasma protein A (PAPPA) (low)
- these tests should be done between 11-13 + 6 weeks
in the second trimester (14-20 weeks) the patient is given the option to receive further diagnostic testing
either the triple (AFP (low), serum oestriol (low), HCG) or the quadruple test (AFP, serum oestraiol, HCG and inhibin A (high))
women have the option to have invasive diagnostic testing - amniocentesis or chorionic villus sampling risk greater than 1 in 150- cells sent for karyotyping and a definitive diagnosis
78
What is Klinefelter's syndrome?
It is associated with karyotype 47 XXY
| a male has an extra X chromosome - it leads to decreased testosterone production
79
What are the symptoms of Klinefelter's syndrome? (3)
Features:
often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia - increased incidence of breast cancer
elevated gonadotrophin levels but low testosterone
Diagnosis is by karyotype (chromosomal analysis).
80
how is Klinefelter's syndrome diagnosed?
diagnosis is by karyotype
81
what is turner's syndrome?
it is a chromosomal disorder in females caused by either the presence of only one sex chromosome or a deletion of the short arm of one of the x chromosomes.
It is denoted as either 45XO or 45X
82
What are the features of turner's syndrome? (3)
- short stature
- shield chest, widely spaced nipples
- webbed neck
- bicuspid aortic valve, coarctation of the aorta
- primary amenorrhoea
- high-arched palate
- short fourth metacarpal
- delayed or absent pubertal development
- cystic hygroma which decreases with age but leaves them with neck webbing
- skeletal abnormalities
- horseshoe kidney - 2 kidneys become fused during development
83
what is the pathophysiology of turner's syndrome?
only one complete X chromosome leads to increase rate of loss of eggs, they have menopause before menarche
this results in hypogonadism and decreased oestrogen.
84
How is turner's syndrome managed?
if they have poor growth - give growth hormone - somatropin
Fertility
Oestrogen and progesterone replacement can help establish female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis
85
How can turners syndrome be diagnosed antenatally?
Karyotype analysis either by chronic villus sampling or amniocentesis
86
what is Edwards syndrome?
trisomy 18
| 2nd most common trisomy following down's syndrome
87
What are the symptoms of Edwards syndrome? (3)
```
Micrognathia (underdeveloped jaw = small chin)
Low-set ears
Rocker bottom feet
Overlapping of fingers
cleft lip
severe intellectual disability and failure to thrive
congenital heart defects
oesophageal atresia (polyhydramnios)
kidney malformations
increased risk of wilm's tumour
```
88
what are risk factors for Edwards syndrome? (2)
increasing maternal age
family history
female babies
89
what is the prognosis of Edward's syndrome?
most babies die before birth
if they are born they usually only survive for weeks to months
they usually die of central apnoea - the brain stops sending signals to the breathing muscle or due to severe cardiac abnormalities
90
how can Edwards syndrome be diagnosed antenatally?
USS - nuchal translucency, polyhydramnios
1st trimester - HCG and PAPP A are decreased compared to unaffected pregnancies
2nd trimester - AFP and uE3 also decrease, however inhibin A is typically normal
diagnosis can be confirmed with karyotyping
91
what is Patau syndrome?
trisomy 13
92
What are the clinical features of trisomy 13? (3)
Microcephaly, small eyes
Clef lip/palate
polydactyly
rocker bottom feet
cutis aplasia - scalp lesions
93
What is the prognosis for Patau's syndrome
most babies die before birth if they survive the median survival is 3 days, 5% live past 6 months
94
what is suggestive of Patau syndrome antenatally?
increased nuchal translucency
1st trimester - serum markers - HCG and PAPP A and decreased
2nd trimester AFP, uE3, inhibin and HCG are normal
confirmed with karyotyping with amniocentesis
95
What is Fragile X syndrome? What is its inheritance pattern?
Fragile X syndrome is caused by a mutation in the FMR1 (fragile X mental retardation 1) gene on the X chromosome. The FMR1 gene codes for the fragile X mental retardation protein, which plays a role in cognitive development in the brain.
It is X-linked dominant
96
What are the features of fragile X syndrome? (3)
Fragile X syndrome usually presents with a delay in speech and language development. Other features are:
Intellectual disability
Long, narrow face
Large ears
Large testicles after puberty
Hypermobile joints (particularly in the hands)
Attention deficit hyperactivity disorder (ADHD)
Autism
Seizures
females may have one fragile X chromosome and one normal chromosome - the features range from normal to mild due to the other x chromosome having an normal FRM1
97
how is fragile X diagnosed? (3)
can be made antenatally by choronic villus sampling or amniocentesis
analysis of the number of CGG repeats using restriction endonuclease digestion and southern blot analysis
98
How is fragile X treated? (2)
treatment is directed at the symptoms
e.g. special education - intellectual disability
stimulants for ADHD
reproductive endocrinologists for premature ovarian failure
99
What is muscular dystrophy? What is the inheritance pattern?
X-linked recessive
A group of genetic disorders where there is progressive weakness and wasting of muscle
there are no problems with nerve or nerve conduction
it is a group of disorders caused by genetic mutation
100
what are the different types of muscular dystrophy? (4)
Dystrophinopathies - Duchenne and Becker (mutations in the dystrophin gene)
myotonic dystrophy
spinal muscular dystrophy
101
what is Duchenne vs Becker muscular dystrophy?
Duchenne - NO dystrophin (nonsense mutation, frameshift mutation) more severe , usually presents at the age of 5.
Becker - misshapen dystrophin - missense mutation - milder than Duchenne's, presents between ages 10 and 20
102
What are the symptoms of Duchenne's? (4)
presents with developmental delay - late walking a speech delay
waddling gait
calf pseudohypertrophy (enlarged from fat and fibrosis)
Gowers's sign - slowly standing up with the help pf the arms - weak muscles in the hips and legs
by the age of 12 most lose the ability to walk - they need a wheelchair
often need ventilation support by the age of 25 due to respiratory failure because of a weak diaphragm.
scoliosis may develop
dilated cardiomyopathy
arrhythmias
103
how is Duchenne or Becker's diagnosed?
serum creatine kinase - 50 to 100 times the normal level is consistent with DMD
genetic testing
104
how are muscular dystrophies managed? (3)
corticosteroids
physiotherapy
psychological support
ventilation support may be needed
105
What is the inheritance pattern of myotonic dystrophy?
Autosomal Dominant
106
What are the symptoms of myotonic dystrophy? (4)
Myotonic dystrophy is a genetic disorder that usually presents in adulthood. Typical features are:
Progressive muscle weakness
Prolonged muscle contractions
Cataracts
Cardiac arrhythmias
TOM TIP: The key feature of myotonic dystrophy to remember is the prolonged muscle contraction. This may present in exams with a patient that is unable to let go after shaking someones hand, or unable to release their grip on a doorknob after opening a door. When doing an upper limb neurological examination always shake the patients hand and observe for difficulty releasing their grip.
107
how is myotonic dystrophy diagnosed? (3)
genetic testing
EMG
muscle biopsy
108
What is Angelman syndrome?
| what are the features of it? (3)
Angelman syndrome is a genetic condition caused by loss of function of the UBE3A gene, specifically the copy of the gene that is inherited from the mother. This can be caused by a deletion on chromosome 15, a specific mutation in this gene or where two copies of chromosome 15 are contributed by the father, with no copy from the mother.
Features
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
Attention-deficit hyperactivity disorder
Dysmorphic features
Microcephaly
Fair skin, light hair and blue eyes
Wide mouth with widely spaced teeth
TOM TIP: The novel features to remember and link with Angelman syndrome so you can spot it in your exams is the unusual fascination with water, happy demeanour and widely spaced teeth.
109
What is Prader-Willi syndrome?
| and what are the features? (3)
Prader-Willi syndrome is associated with the absence of the active Prader-Willi gene on the long arm of chromosome 15. This may be due to:
microdeletion of paternal 15q11-13 (70% of cases)
maternal uniparental disomy of chromosome 15
Features
hypotonia during infancy
dysmorphic features
short stature
hypogonadism and infertility
learning difficulties
childhood obesity
behavioural problems in adolescence
TOM TIP: The key feature everyone remembers for Prader-Willi syndrome is the the insatiable hunger. Feeding can often be a challenge initially due to hypotonia and it is only later that the food seeking and excessive eating occur. It is worth remembering some other key facts about the condition, such as the treatment with growth hormone and the poor muscle tone, so that you know more than just the link with appetite.
110
What is Noonan syndrome? What is its inheritance pattern?
AD disorder
Often thought of as the 'male Turner's', Noonan syndrome is an autosomal dominant condition associated with a normal karyotype. It is thought to be caused by a defect in a gene on chromosome 12
111
What are the features of Noonan syndrome? (3)
Short stature
Broad forehead
Downward sloping eyes with ptosis
Hypertelorism (wide space between the eyes)
Prominent nasolabial folds
Low set ears
Webbed neck
Widely spaced nipples
112
What is William syndrome? List 3 features and 2 associations of the syndrome.
William syndrome is caused by a deletion of genetic material on one copy of chromosome 7, resulting in the person only having a single copy of the genes on this deleted region (on the other chromosome 7). It usually the result of a random deletion around conception, rather than being inherited from an affected parent.
Features
Broad forehead
Starburst eyes (a star-like pattern on the iris)
Flattened nasal bridge
Long philtrum
Wide mouth with widely spaced teeth
Small chin
Very sociable trusting personality
Mild learning disability
TOM TIP: The distinctive features to remember with William syndrome are the very sociable personality, the starburst eyes and the wide mouth with a big smile. It is worth remembering the association with supravalvular aortic stenosis and hypercalcaemia, as these are unique features that are easy to test in exams.
113
What is osteogenesis imperfecta? What is the inheritance pattern?
brittle bone syndrome
inherited AD
it is a group of disorder where defective collagen metabolism causes bone fragility, bowing and frequent fractures
114
what are the two types of osteogenesis imperfecta?
type 1 - collagen normal quality insufficient quantities (most common)
type 2 - collagen is not of sufficient quality or quantity - severe - many are still born
115
How do you treat osteogenesis imperfecta?
bisphosphonates - increase bone density
Vit D supplementation- prevent deficiency
116
What are the features of osteogenesis imperfecta? (3)
```
presents in childhood
fractures following minor trauma
blue sclera
deafness secondary to otosclerosis
dental imperfections are common.
```
117
What is the pathology of rickets?
changes caused by deficient mineralisation at the growth plates of long bones.
(osteomalacia in adults is the impaired bone mineralisation of the bone matrix)
Rickets and osteomalacia usually occur together whilst the growth plates are open
118
What are the risk factors/causes of rickets? (3)
Vitamin D deficiency (malabsorption, lack of sunlight, diet)
Renal failure
drug induced - anticonvulsants - phenytoin
liver disease
end organ resistance (very rare AR disorder)
phosphate deficiency
calcium deficiency
Hereditary hypophosphataemic rickets (X-linked dominant)
119
What are the clinical features of rickets? (5)
Patients with vitamin D deficiency and rickets may not have any symptoms. Potential symptoms are:
Lethargy
Bone pain
Swollen wrists
Bone deformity
Poor growth
Dental problems
Muscle weakness
Pathological or abnormal fractures
Bone deformities that can occur in rickets include:
Bowing of the legs, where the legs curve outwards
Knock knees, where the legs curve inwards
Rachitic rosary, where the ends of the ribs expand at the costochondral junctions, causing lumps along the chest
Craniotabes, which is a soft skull, with delayed closure of the sutures and frontal bossing
Delayed teeth with under-development of the enamel
TOM TIP: Think about the risk factors for vitamin D deficiency in your exams and clinical practice. Patients with rickets are likely to have risk factors such as darker skin, low exposure to sunlight, live in colder climates and spend the majority of their time indoors.
120
What investigations would you perform for rickets? what would they show? (3)
- Low vitamin D levels
- Reduced serum calcium
- Raised alkaline phosphatase
Serum 25-hydroxyvitamin D is the laboratory investigation for vitamin D. A result of less than 25 nmol/L establishes a diagnosis vitamin D deficiency, which can lead to rickets.
Xray is required to diagnose rickets. X-rays may also show osteopenia (more radiolucent bones).
Other investigation results include:
Serum calcium may be low
Serum phosphate may be low
Serum alkaline phosphatase may be high
Parathyroid hormone may be high
121
how do you treat rickets?
calcium and vitamin D (ergocalciferol) supplementation
122
What is transient synovitis?
a self limiting disorder of the hip caused by temporary irritation and inflammation of the synovial membrane.
Commonly affects young children between 3 and 10 years
usually associated with a viral infection
123
what is the most important differential diagnosis for transient synovitis?
septic arthritis
124
What are the features of transient synovitis?
```
Symptoms within a few weeks of a viral illness
Groin or hip pain
limp
Refusal to weight bare
Mild/low grade fever
```
125
what investigations would you perform for suspected transient synovitis?
FBC
ESR and CRP - to rule out septic arthritis
X-ray
126
how is transient synovitis managed?
symptomatic relief
127
What is septic arthritis?
An infection inside a joint (emergency as the infection can quickly begin to destroy the joint and cause systemic illness)
10% mortality
128
What are the common causes of septic arthritis? (List the most common and give two others)
the most common cause is staphylococcus aureus
Other bacteria:
Neisseria gonorrhoea (gonococcus) in sexually active teenagers
Group A streptococcus (Streptococcus pyogenes)
Haemophilus influenza
Escherichia coli (E. coli)
can be from osteomyelitis spreading into joints
129
What are the clinical features of septic arthritis? (4)
Septic arthritis usually only affects a single joint. This is often a knee or hip. It presents with a rapid onset of:
Hot, red, swollen and painful joint
Refusing to weight bear
Stiffness and reduced range of motion
Systemic symptoms such as fever, lethargy and sepsis
Septic arthritis can be subtle in young children, so always consider it as a differential when a child is presenting with joint problems.
130
What is the most common place for septic arthritis to occur in children?
the hip
can also be in knee
131
what investigations would you perform for septic arthritis? (3)
```
synovial fluid gram stain and culture
synovial fluid white cell count
blood culture
WCC
ESR and CRP
```
132
what criteria can be used to differentiate between transient synovitis and septic arthritis?
```
Kocher criteria
fever >38.5
non weight bearing
raised ESR
raised WCC
```
133
How do you manage septic arthritis?
Empirical IV abx until microbial sensitivities are known
Abx continued for 3-6 weeks in total
Vancomycin or clindamycin for gram positive
ceftriaxone if gram negative
Surgical drainage and washout maybe be required in severe cases
134
What is osteomyelitis? Where in the bone does it typically occur and what is the most common causative pathogen?
Osteomyelitis is an infection in the bone and bone marrow. This typically occurs in the metaphysis of the long bones. The most common bacteria is staphylococcus aureus.
Chronic osteomyelitis is a deep seated, slow growing infection with slowly developing symptoms. Acute osteomyelitis presents more quickly with an acutely unwell child.
135
what are the common causes of osteomyelitis in infants, children up to 4 years and older children?
Infants:
- s aureus
- group B streptococci
- aerobic gram negative bacilli (E.coli)
Children up to 4:
- s aureus
- streptococcus pyogenes
- Haemophilus influenzae
- kingella kingae
older children
- s aureus
136
what is a common cause of septic arthritis in patients with sickle cell anaemia?
salmonella species
137
What are the common features of osteomyelitis? (3)
Osteomyelitis can present acutely with an unwell child, or more chronically with subtle features. Signs and symptoms are:
Refusing to use the limb or weight bear
Pain
Swelling
Tenderness
They may be afebrile, or may have a low grade fever. Children with acute osteomyelitis may have a high fever, particularly if it has spread to the joint causing septic arthritis.
138
What investigations would you perform if you suspected osteomyelitis ?
WBC count - may be raised
ESR and CRP- usually raised
USS
MRI (best)
Blood culture
139
How would you treat osteomyelitis?
flucloxacillin for 6 weeks
clindamycin if penicillin allergic
May require surgery for drainage and debridement of infected bone
140
What is perthe's disease? What sex is it more common in and what percentage are bilateral?
a degenerative condition affecting the hip joints of children between the ages of 4-8 years
it is due to the blood supply to the head of the femur being disrupted - avascular necrosis of the femoral head which causes bone infarction
Typically self-resolves and normal functioning is regained
5 times more common in boys and 10% of cases are bilateral.
141
What are the symptoms of perthe's disease? (3)
limp
limited range of movement at the hip joint
hip pain: develops progressively over a few weeks
There may be referred pain to the knee
They may have short stature - however, normal height is attained by their mid teens
142
What investigations would you perform and what would they show in perthe's disease?
bilateral hip x-rays - will show femoral head collapse and fragmentation, subchondral fracture
Technetium bone scan and MRI scan if normal x-ray and symptoms persist
143
what are some complications of perthes disease?
osteoarthritis
limb length inequality
stiffness and loss of rotation
144
what classification can be used to assess the severity of perthes disease?
Catterall classification - severity based on the epiphyseal involvement
145
How do you manage perthe's disease?
To keep the femoral head within the acetabulum: casts, braces
< 6 years= observation
> 6 years= surgical management with moderate results
Operate on severe deformities
146
What is slipped upper femoral epiphysis?
Slipped upper femoral epiphysis (SUFE) is also known as slipped capital femoral epiphysis (SCFE). It is where the head of the femur is displaced (“slips”) along the growth plate.
It is more common in boys and typically presents aged 8 – 15 years, with the average age of 12 in boys. It presents slightly earlier in females, with an average age of 11 years. It is more common in obese children.
147
What are the risk factors for slipped upper femoral epiphysis? (3)
puberty
obestiy
endocrine disorder
male
148
What are the clinical features of slipped upper femoral epiphysis?
hip, groin, medial thigh or knee pain
Painful lump
Restricted range of movement in the hip
| loss of internal rotation of the leg in flexion, patient will prefer to keep the hip in external rotation
149
What investigations would you perform for slipped upper femoral epiphysis?
X-ray: AP and lateral (typical frog-leg) views are diagnostic
150
How would you treat slipped femoral epiphysis?
surgical repair - internal fixation
| prophylatic fixation of the contralateral hip
151
What is osgood schlatter disease and how is it managed? Briefly explain the pathophysiology of this disease.
Osgood-Schlatter disease is caused by inflammation at the tibial tuberosity where the patella ligament inserts. It is a common cause of anterior knee pain in adolescents.
It typically occurs in patients aged 10 – 15 years, and is more common in males. Osgood-Schlatter disease is usually unilateral, but it can be bilateral.
Pathophysiology
The patella tendon inserts into the tibial tuberosity. The tibial tuberosity is at the epiphyseal plate. Stress from running, jumping and other movements at the same time as growth in the epiphyseal plate result in inflammation on the tibial epiphyseal plate. There are multiple small avulsion fractures, where the patella ligament pulls away tiny pieces of the bone. This leads to growth of the tibial tuberosity, causing a visible lump below the knee. Initially this bump is tender due to the inflammation, but has the bone heals and the inflammation settles it becomes hard and non-tender.
152
What is DDH?
Developmental dysplasia of the hip (DDH) is a condition where there is a structural abnormality in the hips caused by abnormal development of the fetal bones during pregnancy. This leads to instability in the hips and a tendency or potential for subluxation or dislocation. These structural abnormalities have the potential to persist into adulthood leading to weakness, recurrent subluxation or dislocation, an abnormal gait and early degenerative changes.
DDH is either picked up during the newborn examinations or later when the child presents with hip asymmetry, reduced range of movement in the hip or a limp.
153
What are the risk factors for DDH? (4)
First degree family history
Breech presentation from 36 weeks onwards
Breech presentation at birth if 28 weeks onwards
Multiple pregnancy
154
What would you see on clinical examination of an infant with DDH?
What would confirm the diagnosis?
Barlow test: attempts to dislocate an articulated femoral head
Ortolani test: attempts to relocate a dislocated femoral head
clicking and clunking of hips
USS will confirm diagnosis if clinically suspected
155
How is DDH managed?
If risk factors, USS at 6 weeks
most unstable hips will spontaneously stabilise by 3-6 weeks of age
Pavlik harness (keeps hips flexed and abducted) in children younger than 6 months
Children diagnosed after 6 months or where a pavlik harness has failed, surgery is required. After surgery a hip spica cast is used to immobilise the hip.
156
What is JIA? What is systemic JIA known as?
Juvenile idiopathic arthritis (JIA), now preferred to the older term juvenile chronic arthritis, describes arthritis occurring in someone who is less than 16 years old that lasts for more than 6 weeks. Systemic onset JIA is a type of JIA which is also known as Still's disease
157
What are the symptoms of JIA? (3)
```
pyrexia
salmon-pink rash
lymphadenopathy
arthritis (joint pain, swelling and stiffness)
uveitis
anorexia and weight loss
```
158
What investigations would you perform for JIA? (2)
How is it managed? (3)
ANA (Antinuclear Abs) may be positive, especially in oligoarticular JIA
rheumatoid factor is usually negative
NSAIDs, such as ibuprofen
Steroids, either oral, intramuscular or intra-artricular in oligoarthritis
Disease modifying anti-rheumatic drugs (DMARDs), such as methotrexate, sulfasalazine and leflunomide
Biologic therapy, such as the tumour necrosis factor inhibitors etanercept, infliximab and adalimumab
159
What are some causes of limping child? (3)
Septic arthritis/osteomyelitis - unwell child with high fever
JIA - limp may be painless
Trauma
DDH - usually in neonates
Perthes - more common in 4-8 years - avascular necrosis of femoral head
Slipped upper femoral epiphysis - 10-15 years - displacement of the femoral head epiphysis posters-inferiorly
160
What is Kohlers disease?
a rare bone disorder of the foot found in children between six and nine years of age. The disease typically affects boys, but it can also affect girls. ... It is caused when the navicular bone temporarily loses its blood supply.
161
How does Kohler's disease present?
a unilateral antalgic gait
| local tenderness of the medial aspect of the foot
162
What investigations would you perform for Kohler's disease?
X-ray
| MRI/CT
163
How is Kohler's disease managed?
rest
avoidance of weight bearing exercise
analgesia
immobilisation in a short leg cast can speed uprecovery
164
What are some causes of SGA? (Small for gestational age) (3)
- constitutional - small parents
- restricted foetal oxygen or glucose supply
- fetal abnormality
- maternal substance exposure
165
What are the complications of Small for gestational age (SGA)? (3)
increased risk of fetal death and asphyxia
hypoglycaemia
hypothermia
polycythaemia
NEC
thrombocytopenia/neutropenia/coagulopathy
meconium aspiration syndrome
166
What are the causes of LGA? (Large for gestational age) (3)
```
most frequently constitutional - large parents
mother has DM
fetal hyperinsulinemia
pancreatic islet cell hyperplasia
hydrops fetalis
Beckwith-Wiedemann syndrome
```
167
What are the complications of LGA? (3)
```
perinatal asphyxia
nerve palsies
shoulder dystocia
fractures
hypoglycaemia
```
168
What are some predisposing factors for prematurity? (3)
```
idiopathic
previous preterm birth
multiple pregnancy
maternal illness
PROM
uterine malformation
cervical incompetence
placental disease
```
169
What are the problems associated with prematurity? (8)
Resp problems : surfactant deficiency causing resp distress syndrome, apnoea of prematurity, chronic lung disease
CNS: intraventricular haemorrhage, periventricular leukomalacia , retinopathy of prematurity
GI: NEC, inability to suck, poor milk intolerance
Hypothermia, immuno-compromised, impaired fluid/electrolyte homeostasis, PDA, anaemia of prematurity, jaundice, perinatal hypoxia
170
why are steroids given to mother if prematurity is suspected?
what steroids should be given?
dexamethasone
| reduces severity of respiratory distress syndrome, NEC and periventricular haemorrhage.
171
What are different types of birth trauma? (4)
head: caput succedaneum (oedema presenting on the scalp), Cephalohematoma, Subaponeurotic haematoma
Skin: traumatic cyanosis, lacerations
Facial paralysis- forceps delivery
Nerve palsies: brachial plexus (Erb's palsy), facial nerve palsy
Fractures - clavicle, long bone, skull. treatment = analgesia, limb immobilisation
soft tissue trauma - sternocleidomastoid tumour - overstretching of the muscles leads to haematoma, fat necrosis
172
What are some causes of the non-specifically ill neonate? (5)
```
infection
hypothermia
metabolic - inborn errors of metabolism
cardiac
GI
CNS
```
173
how might the ill neonate present?
Skin: pallor, mottling, peripheral cyanosis, cool peripheries, cap refil>2seconds, rash, jaundice
Temp - up or down
CNS: lethargy, weak, unusual cry, hypotonia, irritability, jittery, seizures
Resp: apnoea, expiratory grunting, flaring nostrils, tachypnoea, intercostal or subcostal recession, tracheal tug
CVS: tachycardia, weak or absent pulses or hypotension should be considered late/pre-terminal signs
GI: vomiting, distended abdomen (ileus), diarrhoea, bloody stools, abdo tenderness, bilious vomit or aspirate
Metabolic - increased or decreased BG
174
how do you manage an non-specifically ill neonate?
assess ABC
secure airway - give O2 and provide ventilatory support if needed
transfer to neonatal unit
obtain vascular access and give bolus 0.9% saline 10-20mls/kg if circulatory compromise
monitor breathing
measure BP, blood glucose, U&E, FBC, blood gas
full septic screen (blood cultures, CXR/AXR, LP, C&S,
consider cranial USS if preterm/at risk
start a broad spectrum antibiotic (e.g. gentamycin)
if meningitis suspected give cefotaxime
if listeria infection give benzylpenicillin
175
what is physiological jaundice?
it is common and appear after 24 hours and peaks around day 3-4 and usually resolves by day 14
it is due to immaturity of hepatic bilirubin conjugation, but poor feeding can also contribute.
176
How do you treat elevated serum bilirubin above the gestation and age cut offs? (3)
- you need to stop it rising to the level that might cause kernicterus
- treat the underlying cause
- start blue light phototherapy (makes it so bilirubin can be excreted in urine)
- use age/gestation charts to determine when to start phototherapy
- measure SBR frequently
- ensure adequate hydration
- cover eyes during phototherapy
- IVIG can be added
- Exchange transfusion
177
what is the presumption if jaundice occurs in the first 24 hours of life?
that it is pathological
178
what is considered prolonged jaundice
>14 days in term infants
| >21 days in preterm infants
179
What are some causes of prolonged jaundice (4)
```
breastfeeding (usually resolves by 12 weeks)
biliary atresia
UTI
enclosed bleeding (cephalo-haematoma)
prematurity
haemolysis
Neonatal cholestasis
Intraventricular haemorrhage
sepsis
hypothyroidism
conjugated jaundice
hepatic enzyme disorders
```
180
What initial investigations would you perform for prolonged jaundice? (5)
```
SBR (total and conjugated)
U&E
FBC and blood film
direct coombs test
G6PD level
Blood culture
blood group
TFTs
LFTs
```
181
What is kernicterus?
Kernicterus is a type of brain damage caused by excessive bilirubin levels. It is the main reason we treat neonatal jaundice to keep bilirubin levels below certain thresholds.
Bilirubin can cross the blood-brain barrier. Excessive bilirubin causes direct damage to the central nervous system. Kernicterus presents with a less responsive, floppy, drowsy baby with poor feeding. The damage to the nervous system is permenant, causing cerebral palsy, learning disability and deafness. Kernicterus is now rare due to effective treatment of jaundice.
182
If the neonate survives what are the clinical features of kernicterus? (2)
Cerebral cortex is usually spared. If the neonate survives, the clinical features include chorio-athetoid cerebral palsy, paralysis of upward gaze, sensorineural hearing loss, dental dysplasia, and intellectual deficits (less often in the mental retardation range)
183
What are some causes of neonatal hypoglycaemia? (5)
reduced glucose stores: preterm, UUGR, LBW, inborn errors of metabolism
Increased glucose consumption: sepsis, hypothermia, perinatal hypoxia, polycythaemia, haemolytic disease, seizures
hyperinsulinemia: maternal DM, BWS, pancreatic islet cell hyperplasia
maternal beta blockers, tissued or malfunctioning IV infuxion
other rare causes - fetal alcohol syndrome, pituitary insufficiency, adrenal insufficiency
184
How might neonatal hypoglycaemia present? (3)
```
commonly asymptomatic
jitteriness
apnoea
poor feeding
drowsy
seizures
cerebral irritability
hypotonia
macrosomia
```
185
how do you manage severe/symptomatic hypoglycaemia in neonates?
IV bolus 3-5mL/kg of glucose 10%
follow with 10% glucose infusion IV (4-6mg/kg/min)
186
What are some causes of neonatal seizures? (5)
brain injury
CNS infection
cerebral malformation
metabolic causes (hypoglycaemia, hypo/hypernatremia , hypocalcaemia, hypomagnesia)
neonatal withdrawal from maternal substance abuse
kernicterus
187
how should you manage neonatal seizures?
give oxygen, maintain airway, insert IV, treat underlying cause
first line anticonvulsant - IV phenobarbital, second line IV clonazepam
188
what is given to neonates to prevent haemorrhagic disease of the newborn??
vitamin K
189
What are the advantages of breast feeding? (5)
decrease maternal post partum haemorrhage
mild maternal contraceptive effect
increased bonding decreased maternal breast cancer risk
cheap
decreased infant mortality
decreased GI and resp infection rate
dcreased later autoimmune disease incidence
190
What are the contraindication to breastfeeding? (3)
positive maternal HIV status
certain maternal medications (amiodarone)
maternal herpes zoster over breast
infantile galactosaemic or phenylketonuria
primary lactose intolerance
191
What is respiratory distress syndrome? Briefly explain the pathophysiology.
it refers to lung disease caused by surfactant deficiency - largely seen in pre-term infants. It is rare in >32 weeks gestation
Inadequate surfactant - high surface tension within alveoli - atelectasis (lung collapse) - inadequate base exchange and the biochemical findings.
192
What are the risks/causes for RDS? (3)
```
CS delivery
hypothermia
perinatal hypoxia
meconium aspiration
congenital pneumonia
maternal diabetes
past fam history
```
193
What is the presentation of RDS? (3)
cyanosis
tachypnoea
chest in drawing
grunting within 4 hours of birth
194
What investigations would you perform for RDS and what would you see? (2)
CXR - ground-glass appearance
SpO2 monitoring and blood gases (hypercapnia, acidosis, hypoxia)
195
How do you manage RDS? (3)
prevention during pregnancy: maternal corticosteroids (dexamethasone)to induce fetal lung maturation
oxygen supplementation
assisted ventilation and intubation
exogenous surfactant given via endotracheal tube - should be considered if extremely preterm
CPAP
antibiotics e.g. penicillin and gentamycin until congenital pneumonia has been excluded as it
can mimic RDS
nutrition - iv fluids
196
what is bronchopulmonary dysplasia?
a form of chronic lung disease that affects infants who have been born preterm.
Now BPD is a condition of impaired alveolar development - mechanical, oxidative and inflammatory factors all contribute to lung injury
197
What are the risk factors for Broncho-pulmonary dysplasia? (2)
```
gestational immaturity
low birth weight
males
Caucasian heritage
IUGR
family history of asthma
history of chorioamnionitis
```
198
What are the symptoms of bronchopulmonary dysplasia? (3)
```
breathlessness
difficulty feeding
cough
wheeze
poor growth
hyperinflated chest increased work on breathing
abnormal breath sounds
evidence of pulmonary hypertension
```
199
What is chronic lung disease of prematurity defined as?
the need for supplemental oxygen beyond 36 weeks corrected age
200
What is old BPD?
long periods of mechanical ventilation for RDS leading to lung damage
201
what is hypoxic-ischaemic encephalopathy?
clinical syndrome of brain injury secondary to a hypoxic-ischaemic insult
202
What are the causes of hypoxic-ischaemic encephalopathy? (3)
decreased umbilical blood flow e.g. cord prolapse
decreased placental gas exchange e.g. placental abruption
decreased placental perfusion
maternal hypoxia
inadequate postnatal cardiopulmonary circulation
203
How does hypoxic-ischaemic encephalopathy present? (3)
it varies depending on the severity of cerebral hypoxia
there may be a range of symptoms and signs affecting: - level of consciousness, muscle tone, posture tendon reflexes, suck, heart rate, and CNS homeostasis
204
How should you manage hypoxic-ischaemic encephalopathy? (3)
- resuscitation at birth; insert IV +/- arterial lines
- avoid hyperthermia
- assess eligibility for therapeutic hypothermia
- start cerebral function analysis monitoring
- assess for features of dysmorphism and birth trauma
- assess neurological features
- exclude other causes of encephalopathy (e.g. meningitis, metabolic disturbances, maternal drugs, CNS malformation and haemorrhage.
- expect and manage multi-organ failure
- monitor and maintain homeostasis
205
what is the gold standard treatment for hypoxic-ischaemic encephalopathy?
therapeutic hypothermia
lower temperature to 33-34 within 6 hours of the insult
hypothermia is maintained for 72 hours before gradual rewarming
206
What is necrotising enterocolitis ?
Necrotising enterocolitis (NEC) is a disorder affecting premature neonates, where part of the bowel becomes necrotic. It is a life threatening emergency. Death of the bowel tissue can lead to bowel perforation. Bowel perforation leads to peritonitis and shock.
207
What are the causes of NEC? (3)
The cause of necrotising enterocolitis is unclear. There are certain risk factors for developing NEC:
Very low birth weight or very premature
Formula feeds (it is less common in babies fed by breast milk feeds)
Respiratory distress and assisted ventilation
Sepsis
Patient ductus arteriosus and other congenital heart disease
208
How does NEC present? (4)
it usually presents in the second week after birth
Intolerance to feeds
Vomiting, particularly with green bile
Generally unwell
Distended, tender abdomen
Absent bowel sounds
Blood in stools
When perforation occurs there will be peritonitis and shock and the neonate will be severely unwell.
209
What would you see on an abdominal XR with a neonate with NEC? (3)
Xrays can show:
Dilated loops of bowel
Bowel wall oedema (thickened bowel walls)
Pneumatosis intestinalis is gas in the bowel wall and is a sign of NEC
Pneumoperitoneum is free gas in the peritoneal cavity and indicates perforation
Gas in the portal veins
210
What is the management of NEC? (3)
Prophylaxis: antenatal steroids and breast milk are protective
NBM with IV fluids, TPN (total parenteral nutrition) and ABX
IV Abx for 10-14 days (benzylpenicillin, gentamycin and metronidazole)
NGT to drain fluid and gas from stomach and intestines.
NEC is a surgical emergency and requires immediate referral to the neonatal surgical team. Some neonates will recover with medical treatment. In others, surgery may be required to remove the dead bowel tissue. Babies may be left with a temporary stoma if significant bowel is removed.
211
What investigations would you perform for NEC? (3)
```
Abdo X-ray
FBC
CRP
Capillary blood gas
Blood culture
```
212
what staging can be used to grade severity of NEC?
Bells staging of NEC
stage 1: suspected NEC
stage 2: definite NEC
stage 3: advanced NEC
213
What are the causes of orofacial clefts?
multifactorial and includes genetic and environmental factors
environmental factors: maternal folic acid deficiency, maternal exposure to alcohol, tobacco, steroids, anticonvulsants and retinoic acid
30% are syndromic e.g. Pierre-Robin syndrome
214
how do treat orofacial clefts?
refer to specialist cleft lip and palate MDT
surgical repair of lip is usually at 3 months, palate is at 6-12 months
later on speech therapy and dental input may be needed.
215
What are the problems of orofacial clefts? (2) What is there an increased risk of in cleft palate babies?
feeding: orthodontic devices may be helpful
speech: with speech therapy 75% of children develop normal speech
increased risk of otitis media for cleft palate babies
216
What are the commonest variants of orofacial clefts?
isolated cleft lip (15%)
isolated cleft palate (40%)
combined cleft lip and palate (45%)
217
what is meconium aspiration syndrome?
Meconium aspiration syndrome refers to respiratory distress in the newborn as a result of meconium in the trachea. It occurs in the immediate neonatal period. It is more common in post-term deliveries, with rates of up to 44% reported in babies born after 42 weeks. It causes respiratory distress, which can be severe. Higher rates occur where there is a history of maternal hypertension, pre-eclampsia, chorioamnionitis, smoking or substance abuse.
218
What would a CXR show in an infant with meconium aspiration syndrome?
generalised lung hyperinflation with patchy collapse/consolidation +/- air leaks
219
how should meconium aspiration syndrome be managed?
supplemental oxygen
intermittent positive pressure ventilation or high frequency oscillatory ventilation
if ventilation required give surfactant and antibiotics
220
what is meconium ileus?
Usually delayed passage of meconium and abdominal distension
The majority have cystic fibrosis
X-Rays will not show a fluid level as the meconium is viscid, PR contrast studies may dislodge meconium plugs and be therapeutic
Infants who do not respond to PR contrast and NG N-acetyl cysteine will require surgery to remove the plugs
221
how is meconium ileus managed?
Gastograffin enema
| Laparotomy for unsuccessful enema
222
What can cause bilious vomiting in neonates? (3)
```
Duodenal atresia
Malrotation with volvulus
Jejunal/ileal atresia
Meconium ileus
NEC
```
223
```
What is duodenal atresia?
who is it common in?
How will it present?
what XR sign is shown in the X-ray below?
how is it treated?
```
Duodenal atresia is the congenital absence or complete closure of a portion of the lumen of the duodenum. It causes increased levels of amniotic fluid during pregnancy ( polyhydramnios) and intestinal obstruction in newborn babies
common in trisomy 21
it will present with bile-stained vomiting
AXR will show double bubble sign of gas in the stomach and proximal duodenum
surgical treatment: side to side duodenoduodenostomy
the prognosis is excellent
224
what is small bowel atresia?
what are the clinical features?
what would you see on an XR?
was is the treatment?
a type of intestinal atresia where there is a gap in the bowel causing complete blockage/obstruction of the bowel - usually caused by vascular insufficiency in utero
Clinical features - bile stained vomit and abdo distension shortly after birth
AXR will show air-fluid levels
treated with laparotomy - end to end anastomosis - the prognosis depends on the length of the remaining bowel
225
What is oesophageal atresia
Oesophageal atresia is a rare birth defect that affects a baby's oesophagus.
The upper part of the oesophagus doesn't connect with the lower oesophagus and stomach. It usually ends in a pouch, which means food can't reach the stomach.
May present with choking and cyanotic spells following aspiration
VACTERL associations
226
What is VACTERL association?
```
vertebral anomalies
Anorectal anomalies
cardiac anomalies
Tracheal abnormalities
renal abnormalities
Limb abnormalities
```
The VACTERL association refers to a recognized group of birth defects which tend to co-occur. This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.
227
how is oesophageal atresia diagnosed?
passage of 10F NGT
CXR - the tube stops in the upper thorax. Air in the stomach indicated a fistula between the trachea and the distal oesophagus (TOF)
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how should oesophageal atresia be managed?
- the baby should be kept warm and disturbed as little as possible
- the upper oesophageal pouch should be aspirated regularly by oropharygneal suction or a Replogle tube
standard IV fluids started
preoperative antibiotics are not required unless there is evidence of aspiration pneumonia
babies who require mechanical ventilation must be referred urgently for surgery because gas will escape down the TOF and produce progressive gastric distension, which impairs ventilation further, ultimately leading to gastric perforation.
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What is Gastroschisis?
Gastroschisis is a birth defect of the abdominal (belly) wall. The baby's intestines are found outside of the baby's body, exiting through a hole beside the belly button. The hole can be small or large and sometimes other organs, such as the stomach and liver, can also be found outside of the baby's body.
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How is Gastroschisis managed?
Immediate - cover the exposed bowel with clingfilm
keep the baby warm and hydrated
AXR is NOT necessary
Surgery: the defects require surgical closure as rapidly as possible. Often this has to be staged using a silo because the abdomen is too small to accommodate the intestine. The silo is reduced serially over a period of 1-2 weeks and then secondary closure of the defect is performed
Nutritional - total parenteral nutrition may be required for many weeks because the intestinal function is slow to resume after the abdominal wall is closed. However, the long-term outcome is excellent.
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What is the first line medication for ADHD in children? What should be monitored and how often? What age must children be to start ADHD medication?
- Methylphenidate (CNS stimulant)
- Height and weight every 6 months
- 5 years old
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What is autism spectrum disorder?
a neurodevelopmental condition characterized by qualitative impairment in social interaction and communication as well as repetitive stereotyped behaviour, interests, and activities.
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When is ASD normally apparent by?
The age of 3
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What are the 4 major domains of child development?
- Gross motor
- Fine motor
- Language
- Personal and social
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What age can children maintain a sitting position but may fall? When should children being cruising (walking whilst holding onto furniture)? What age can they sit unsupported? When can they climb stairs one foot at a time? When can they walk unaided? What age can they hop at?
- 6 months
- 12 months
- 9 months
- 3 years
- 15 months
- 4 years
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At what age can children pincer grip objects? When do they show a preference for a face rather than an inanimate object? When can they bring a spoon from mouth to bowl? When can they scissor grasp objects? When can the palmar grasp objects?
- 12 months
- 8 weeks
- 14 -18 months
- 9 months
- 6 months
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When do children start making cooing noises? When can they start combining 2 words? When can they say single words in context like Dad-da? When do children start babbling?
- 3 months
- 2 years
- 12 months
- 9 months
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When do children become cautious with strangers? When do they start to smile? When do they engage with others by handing objects and clasping hands? When will they seek out other children to play with?
- 9 months
- 6 weeks
- 12 months
- 2 years
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What can occur if a childhood strabismus isn't corrected?
Amblyopia (the brain fails to fully process inputs from one eye and over time favours the other eye)
