Passmed 22/03/24 Flashcards
What is hypospadias?
Congenital abonormailty of penis - has significant genetic element
When is hypospadias usually identified?
On newborn check, if not then parents notice abnormal urine stream
What is hypospadias charcterised by?
-ventral urethral meatus
-hoode prepuce (foreskin)
-chordee (ventral curvature of penis) is seen in more severe forms
-Urethral meatus may open more proximallt in more severe variants
Where does hypospadias most commonly occur and what are the associated conditions?
-Most commonly occurs in an isolated disorder
-Cryptorchidism (present 10%)
-Inguinal hernia
What is cryptorchidism?
When both testes fail to descend from adomen into scrotum
How is hypospadias managed?
-Refer to specialist
-Corrective surgery is typically performed 12 months
-Do not circumcise prior to surgery
-In boys distal disease no treatment
What is perthes disease?
A degenerative condition affecting hip joints of children it is due to avascular necrosis of femoral head, specifically the femoral epiphysis
2 fun facts about perthes disease?
-5x more common in boys
-10% cases are bilateral
Features of perthres disease
-Hip pain: develops progressively over few weeks
-Limp
-Stiffness and reduced ROM
Findings on X-ray for perthes disease
Early - widening of joint space
Later - decreased femoral head size/flattening
How to diagnose perthes?
-X-ray
-Tecnetium bone scan or MRI if nirmal x-ray and symptoms persit
What are the complications of perthes disease?
-Osteoarthritis
-Premature fusion of growth plates
What staging can be used to classify the stage of Perthes?
Catterall staging
What is the management of perthes?
-Keep femnoral head in acetabulum - case, braces
-If <6 years observe
-If older then surgical management
What is the prognosis of perthes?
-Most cases will resolves with conservative management - early diagnosis improves outcome
When does cows milk preotein intolerance/allergy occur?
First three months of life
what are the two kinds of reactions seen in Cow’s milk protein allergy/intolerance?
IgE mediated - this is immediate (CMPA) and non-IgE mediated - this is delayed (CMPI)
What are the features of CMPI/CMPA?
-Regurgitation and vomiting
-Diarrhoea
-Urticaria, atopic eczema
-Colic symtpoms
-Wheeze, chronic cough
-Rarely angioedema and anaphylaxis
How do you diagnose CMPI/CMPA?
-Diagnosis is often clinical
-Skin rick/patch testing
-total IgE and specific IgE
WHat is the management if severe CMPI/CMPA?
-If symptoms are severe then refer to peads (e.g. failure to thrive)
What is the management of CMPI or CMPA if formula fed?
-Extenisve hydrolysed formula (eHF) milk is the first-line replacement formula for infants with mild-moderate symptoms
-Amino-acid base forula (AAF) in infants with svere CMPA or no response to eHF
-Around 10% of infants are also intolerant to soya milk
Management of CMPI/CMPA if breastfeeding?
-Continue breastfeeding
-Eliminate cow’s milk protein from maternal diet consider prescribing calcium supplements to exclude
-Use eHF milk when breastfeeding stops, until 12 months of age and at least 6 months
Describe prognosis of CMPI
-in children with IgE mediated intolerance (CMPA) around 55% will be milk tolerant by age of 5 years
-in children with non-IgE mediated intolerance most children will be milk tolerant by age of 3
- A challenge is performed in hospital setting as anaphylaxis can occur
What are the causes of neonatal hypotonia?
-Neonatal sepsis
-Hypothyroidism
-Prader-willi
-spinal muscular atrophy type 1 (Werdig-Hoffman disease)
Maternal causes include maternal dirgs and maternal myasthenia gravis
What is Meckel’s diverticulum?
-Congenital diverticulum of the small intestine
-It is a remnant of the omphalomesenteric duct (primitive midgut of developing midgut)
What are is the rule of 2’s with Meckel’s diverticulum?
-occiurs in 2% of the population
-is 2 feet from the ileocaecal valve
-is 2 inches long
What si the presentation of Meckel’s diverticulum?
-Usually asymptomtaic
-Abdominal pain that mimic appendicitis
-“massive rectal bleeding” it is the most common cause of PAINLESS bleeding requiring transfusion between ages 1 and 2
-Intestinal obstruction
What are the investigation for Meckel’s diverticulum if patient is hemodynamically stable/ intermittent bleeding ?
-Meckel’s scan should be considered (99m technetium pertechnetate)
-this has an affinity for the gastric mucosa
What is the investigation of choice if Meckel’s diverticulum is more severe e.g. patient requires transfusion?
-Mesenteric arteriography can be used
What is the management of Meckel’s diverticulum?
-Removal if narrow neck or symptomatic
(wedge excision or formal small bowel resection and anastomosis)
First line investigation for SUFEs?
Plain X-ray of both hips (AP and frog-leg views) - this is because SUFEs is bilateral in 20% of cases
What is SUFES?
Slipped capital femoral epiphysis - rare hip condition in children classically seen in obese boys
When does SUFEs present?
-It can present acutely following trauma but more commonly with chronic persistent symptoms
what age group does SUFEs typically appear?
10-15 years
What are the features of SUFEs?
hip, groin and medial thigh or knee pain
-LOSS of INTERNAL rotation of the leg in flexion
What is the management of SUFES?
Internal fixation - a single cannulated screw placed in the centre of the epiphysis
What are the coplications of SUFEs?
-Osteoarthritis
-Avascular necrosis of the femoral head
-Chondrolysis (breakdown of cartilage)
-Leg length discrepancy
What is congenital diaphragmatic hernia?
Herniation of abdominal viscera into the chest cavity due to incompleete formation of the diaphragm - this can cause respiratory distress shortly after birth
What fails to close in congenital diaphragmatic herniation?
the pleuroperitoneal canal
What does congenital diaphragmatic hernia result in?
Pulmonary hypoplasia and hypertension which results in respiratory ditress
What is the a presentation that is found in babies with congenital diaphragmatic hernia?
What is scaphoid abdomen?
Abdominal wall is concave - this is associated with congenital diaphragmatic hernia
What are the innocent murmurs heard in children?
-Ejection murmurs - due to turbulent blood flow at the outflow tract of the heart
-Venous hums - due to turbulent blood in the great veins returning to the heart
-Still murmur
Characteristic of venous hum?
Continuous blowing noise heard just below the clavicles
Characterisitc of Stills murmur?
Low-pitched sound heard ar lower left sternal edge
Characteristic of innocent ejection murmur?
Soft blowing murmur in pulmonary area or short buzzing in aortic
-May vary with posture
-No other symptoms
What is pyloric stenosis?
Hypertrophy of circular muscles of the pylorus
What are the features of pyloric stenosis?
-Projectile vomiting - occurs 30 mins after feed
-Constipation and dehydration
-Palpable mass presnt in upper abdomen
-“visible perstalsis”
-Hypochlorameic, hypokalaemic alkalossi due to vomiting
Why is the vomit non billous in pyloric stenosis?
The level of obstruction is proximal to the second part of duodenum where bile enter the GI tract (differs from malrotation and duodenal atresia)
how is diagnosis of pyloric stenosis most commonly made?
USS
What is the management of pyloric stenosis?
Ramstedt pyloromyotomy
What is caput succedaneum?
Oedema of the scalp at the presenting part of the head, typically the vertex - it crosses suture lines
How long does caput succedaneum take to resolve?
Resolves within a few days
Why does caput succedaneum occur?
-Often occurs following prolonged difficult deliveries
-Can be due mechanical trauma of the initial portion of the scalp pushing through the cervix in prolonged delivery or secondary due tot eh use of ventouse
What are the riusk factors for neonatal hypoglycameia?
-Preterm birth (<37 weeks)
-Maternal DM
-IUGR
-Hypothermia
-Neonatal sepsis
-Inborn error metabolism
What is vesicoureteric reflux (VUR?
Abnormal backflow of urine from the bladder into the ureter and kidney
What is the main presentation of vesicoureteric reflux?
Recurrent UTI
-important to investigate as 35% of children with VUR develop renal scarring
What are the other possible presentation of vesicoureteric reflux?
-Antenatal period: hydronephrosis (swelling of kidneys) on US
-Recurrent UTI
-Reflux nephropathy - this is used to describe chronic pyelonephritis secondary to VUR
NOTE: this is the commonest cause of chronic pyelonephritis
What investigation is used to diagnose VUR?
-Micturating cysourethrogram
-a DMSA scan may also be performed to look for renal scarring - can be graded
What are the risk factors for DDH?
-Female
-Breech
-Fhx
-1st born
-Oligohydramnios
-BW >5kg
-congenital calcaneovalgus foot deformity
What is the organsim responsible for cauing scarlet fever?
Group A haemolytic streptococci
What is exomphalos?
Abdominal contents protrudes through the anterior abdominal wall but it is covered in an amniotic sac formed by amniotic membrane and peritoneum
What is the management of exomphalos?
c -section is indicated to reduced risk of sac rupture
How is the repair of exomphalos carried out?
-Gradual staged closure that starts immediately (completion at 6-12 months)
-This is because closure may be difficult due to lack of space/high intra abdominal pressure - this prevent respiratory complicatiosn
What is Gastrochisis?
Paraumbilical abdominal wall defect results in abdominal contents being outside the body, without a peritoneal covering
How is gastroschisis managed?
-Vaginal delivery can be attempted
-New borns should go to theatre as soon as possible after delivery - whilst waiting the bowel should be protected with cling film
What are the three cardiac associations with Turners syndrome?
-Bicuspid aortic valve (ejection systolic murmmur)
-Aortic root dilatation
-Coarction of the aorta
What are the two types of neonatal sepsis?
-Early onset (within 72 hours of birth)
-Late onset (between 7-28 days of life)
What is the most likely causative organism of acute epiglottitis?
Haemophilus influenzae B (Hib) - making this an uncommon infection due tot the vaccine
What organism account for the majority of croup?
Parainfluenza
What does pyloric stenosis classically lead to on blood gas?
Hypocholaramia, hypokalaemia (alkalosis), elevated bicarbonate
What is useful investigation for NEC?
X-ray
dilated bowel loops (often asymmetrical in distribution)
bowel wall oedema
pneumatosis intestinalis (intramural gas)
portal venous gas
pneumoperitoneum resulting from perforation
air both inside and outside of the bowel wall (Rigler sign)
air outlining the falciform ligament (football sign)
Why should you not given ibuprofen in patients with chicken pox?
It can increase the risk of necrotising fasciitis
School exclusion for whopping cough?
48 hour after fever
What hearing test is performed at school entry?
Pure tone audiomerty
What is the investigation for intussusception?
USS -shows target shaped mass
Blood findings in ALL?
Aneamia, thrombocytopenia and neutropaenia
How does an older child with missed DDH present?
Trendlenberg gait and leg length discrepancy
What investigation should be done in children with Kawasaki disease?
Echocardiogram
What is the most common cause of cardiac arrest in children?
Respiratory distress
What is a feature of scarlet fever?
Sandpaper rash
what babies should have USS to screen for DDH?
All breech babies at or after 36 weeks gestation require USS for DDH screening at 6 weeks regardless of mode of delivery
What antibiotics is given o contacts of those with meningitis ?
Public health notification and antibiotic prophylaxis of contacts
ciprofloxacin is now preferred over rifampicin
What type of vaccine is the rota virus vaccine?
oral, live attenuated vaccine
What age group is transient synovitis most common in?
3-8 years
What are the feature of transient synovitis?
limp/refusal to weight bear
groin or hip pain
a low-grade fever is present in a minority of patients
high fever should raise the suspicion of other causes such as septic arthritis
What is the management for transient synovitis?
Transient synovitis is self-limiting, requiring only rest and analgesia.
What does a diastolic murmur indicate?
These are usually indicative of structural heart disease such as aortic or mitral stenosis or regurgitation - Not an innocent murmur
What criteria is used to assess the probability of septic arthritis in children?
KOCHER criteria
How is KOCHER criteria calculated?
Non-weight bearing - 1 point
Fever >38.5ºC - 1 point
WCC >12 * 109/L - 1 point
ESR >40mm/hr
0 points = very low risk
1 point = 3% probability of septic arthritis
2 points = 40% probability of septic arthritis
3 points = 93% probability of septic arthritis
4 points = 99% probability of septic arthritis
What should you exclude during a clinical examination in a patient with croup?
Examination of the throat - due to risk of airway obstruction
What re the complication of chicken pox?
-Pneumonia
-Encephalitis (cerebellar involvement may be seen)
-Disseminated haemorrhagic
chickenpox
-Arthritis, nephritis and pancreatitis may very rarely be seen
What drug should be given to maintain patent ductus arteriosus in cyanotic congenital heart diseases?
Prostaglandin E1
What is the organism that cause threadworms?
Enterobius vermicularis
What is the triad of a shaken baby?
-Retinal haemorrhages
-Subdural haematoma
-Rib fractures
What charcuteries infant colic?
-Less than 3 months old
-Excessive crying and pulling-up of the legs
-Often worse in the evening
What is alpha thalassaemia?
Deficiency of alpha chains in Hb
What is an example of a prostaglandin?
alprostadil
What is the bacteria to watch out for in CF patients?
Pseudomonas aeruginosa
How is Pseudomonas aeruginosa eradicated?
Oral ciprofloxacin
What is erythema inecftosium?
-5th disease or ‘slapped-cheek syndrome’
-Spreading to proximal arms and extensor surfaces
-parvovirus B19
What is pulmonary hypoplasia?
Under developed lungs in neonate
What are the causes of pulmonary hypoplasia?
oligohydramnios
congenital diaphragmatic hernia
What is androgen sensitivity syndrome?
X-linked recessive condition due to end organ resistance to testosterone - this causes a genotypical male (XY) to be phenotypically female
What antibiotic is given for meningitis in children <3?
IV amoxicillin (or ampicillin) + IV cefotaxime
Note: the amoxicillin/ampicillin is given for listeria cover
What antibiotic is given for meningitis in children >3?
IV cefotaxime (or ceftriaxone)
What is achondroplasia?
autosomal dominant disorder associated with short stature
What gene mutation causes achondroplasia?
fibroblast growth factor receptor 3 (FGFR-3) - the mutation in this gene results in abnormal cartilage
-In 70% of cases it occurs as a sporadic mutation - then autosomal dominant
What are the 5 areas assed APGAR?
-Colour
-Muscle tone
-Reflex
-Respiratory effort
-Heart rate
When should you be concerned when a child isn’t walking?
18 months
BLS - Peads algorithm
1.Help
2.Open airway - look listen and feel for breathing
4. Give 5 rescue breath
4. Check for signs of circulation - children femoral pulse, infants brachial or femoral pulse
5. 15:2 at 100-120 bpm
-Children lower part sternum
-Infant thumb encircling technique
WHat organism causes hand foot and mouth?
Coxsackie A16 and enterovirus
What is retinoblastoma?
Most common ocular malignancy found in children
What is the pathophysiology of retinoblastoma?
-Autosomal dominant
-Caused by a loss of function of retinoblastoma tumour suppressor gene on chromosome 13
-Around 10% of cases are hereditary
What are the features of retinoblastomas?
- Most common is absence of the red reflex, it is replaced by white pupil (leukocoria)
-Strabismus
-Visual problems
What is the treatment for retinoblastoma?
-Enucleation - removal of eye from orbit
-Depending how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation
What is the prognosis of retinoblastoma?
Excellent - 90% surviving into adulthood
