Paeds 3 🧬👁️ 🩻 🐣 Flashcards
Endocrine and reproductive, ENT, Genetics, MSK, Neonatology
what are the complications of undescended testis?
infertility
torsion
testicular cancer
psychological
what is the definition of undescended testis?
cryptorchidism (congenital undescended testis)
- when one or both testes are not present within the dependent portion of the scrotal sac
What are the key diagnostic factors of undescended testis? (4)
- presence of risk factors (fam history, low birth weight, prematurity)
- malpositioned or absent testis
- palpable cryptorchid testis
- non palpable testis
what are the risk factors of undescended testis?
family history
prematurity
low birth weight
what investigation may you consider for undescended testis?
USS
MRI
hormonal evaluation with hCG stimulation test
how do you treat undescended testis?
retractile testicals - annual follow up examination
orchidopexy
what is testicular torsion?
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.
what age group is testicular torsion common in ?
13-15 years
What are the clinical features of testicular torsion? (5) what sign will be seen on scrotal ultrasound?
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
what are the investigations for testicular torsion? What would you see?
grey-scale USS
power doppler USS
colour doppler USS
whirlpool sign
you could also consider urinalysis, FBC, CRP
how do you treat testicular torsion?
treatment is with surgical exploration
what is precocious puberty ?
when sexual characteristics appear before 8 years in girls and before 9 years in boys. (more common in females)
what is thelarche?
the first stage of breast development
what is adrenarche?
the first stage of pubic hair development
what are the two types that precocious puberty can be divided into?
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
what are the key diagnostic factors for precocious puberty?
presence of risk factors
boys - testis >4 ml
girls - breast development
pubic and axillary hair
what are the investigations for precocious puberty?
bone age assessment
basal FSH and LH
serum testosterone
serum oestrogen
other investigations to consider: MRI brain, CT brain, urinary steroid profile
how is precocious puberty treated?
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
in males with precocious puberty what would bilateral enlargement, unilateral enlargement and small testis suggest?
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)
what is the most common cause of hypothyroidism in children?
autoimmune thyroiditis - juvenile hypothyroidism
What are some causes of congenital hypothyroidism? (3)
Maldescent of the thyroid and athyrosis
dyshormonogenesis - an inborn error of of thyroid hormone synthesis
iodine deficiency
hypothyroidism due to TSH deficiency
What are the clinical features of congenital hypothyroidism? (5)
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
What are the clinical features of acquired hypothyroidism? (7)
females>males short stature/growth failure cold intolerance dry skin cold peripheries bradycardia thin dry hair goitre slow relaxing reflexes constipation delayed puberty obestiy
how is congenital hypothyroidism screened for and picked up?
Guthrie test however this test will not pick up those have thyroid dysfunction secondary to pituitary abnormalities.
how is hypothyroidism treated ?
thyroxine - levothyroxine
what increases the risk of juvenile hypothyroidism?
Down or Turner syndrome and the development of other autoimmune conditions (RA, DM, vitiligo)
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
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
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
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)
What tests would you do for delayed puberty?
non-dominant wrist x-ray - helps to estimate skeletal age
basal LH and FSH
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
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
what is congenital adrenal hyperplasia?
a family of inherited enzyme deficiencies that impair normal cortiocosteroid synthesis by the adrenal cortex.
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
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
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.
What are the investigations for CAH?
serum 17-hydroxyprogesterone
serum 11-deoxycortisol
serum chemistry
biochemical abnormalities are low plasma sodium, high plasma potassium, metabolic acidosis, hypoglycaemia
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)
What is the ongoing management for CAH?
for infants or children give a glucocorticoid - hydrocortisone
Aldosterone replacement- fludrocortisone
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.
What are the features of androgen insensitivity syndrome? (3)
primary amennorhoea
undescended testis causing groin swelling
breast development may occur as a result of the conversion of testosterone to oestradiol
how is androgen insensitivity syndrome managed?
counselling - raise the child as a female
bilateral orchidectomy - increased risk of testicular cancer due to undescended testis
oestrogen therapy
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.
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.
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
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
What can cause obesity in children? (5)
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
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
what is otitis media?
acute infection of the middle ear
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)
what children are prone to otitis media?
the ones who have short, horizontal or poorly functioning Eustachian tubes
what are the symptoms of otitis media?
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
What pathogens cause otitis media?
Most common are:
Haemophilus influenzae
Strep pneumoniae
Moraxella catarrhalis
Strep pyogenes
what are the complications of otitis media?
mastoiditis
meningitis
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
what can recurrent ear infections lead to ?
otitis media with effusion. (OME or glue ear or serous otitis media)
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
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
how is glue ear treated
usually resolves spontaneously
however insertion of ventilation tubes (grommets) can be beneficial
adenoidectomy can offer long term effects
What is the most common cause of hearing loss in children?
glue ear
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
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
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.
How do you treat peri-orbital cellulitis in children?
admission to hospital for IV antibiotics
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.
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
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)
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
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
what are the different types of chromosome testing?
Karyotype analysis
Fluorescence in situ hybridization (FISH)
Molecular kayotyping using microarrays
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.
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.
What conditions are associated with Down syndrome? (7)
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
what are the cardiac complications of Down’s Syndrome?
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%)
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
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
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
What are the symptoms of Klinefelter’s syndrome? (5)
Usually patients with Kleinfelter syndrome appear as normal males until puberty. At puberty can develop features suggestive of the condition:
Taller height
Wider hips
Gynaecomastia
Weaker muscles
Small testicles
Reduced libido
Shyness
Infertility
Subtle learning difficulties (particularly affecting speech and language)
how is Klinefelter’s syndrome diagnosed?
diagnosis is by karyotype
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
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
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.
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
How can turners syndrome be diagnosed antenatally?
Karyotype analysis either by chronic villus sampling or amniocentesis
what is Edwards syndrome?
trisomy 18
2nd most common trisomy following down’s syndrome
What are the symptoms of Edwards syndrome? (5)
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
what are risk factors for Edwards syndrome?
increasing maternal age
family history
female babies
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
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
what is Patau syndrome?
trisomy 13
What are the clinical features of trisomy 13? (3)
microcephaly holoprosencephaly meningomyelocele developmental delay gastrointestinal problems heart problems - septal defect polycystic kidney disease
cutis aplasia - scalp lesions
small eyes
polydactyly
rocker bottom feet
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
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
What is Fragile X syndrome?
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
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
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.
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
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.
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.
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.
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.
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
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.
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.
What investigations would you perform for RDS and what would you see?
CXR - ground-glass appearance
SpO2 monitoring and blood gases (hypercapnia, acidosis, hypoxia)
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
What are the commonest variants of orofacial clefts?
isolated cleft lip (15%)
isolated cleft palate (40%)
combined cleft lip and palate (45%)
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
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
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
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.
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.
