Paeds Flashcards
Nontender abdominal mass associated with high vanillylmandelic acid (VMA) & homovanillic acid (HVA)
Neuroblastoma
Most common type of trachoesophageal fistula (TEF)
Esophageal atresia with distal TEF (85%)
Unable to pass NG tube
Not contraindication to vaccination
Mild illness and/or low grade fever
Current antibiotic therapy
Prematurity
Tests to rule out abusive head trauma
Opthalmologic exam, CT & MRI
A neonate has meconium ileus
Cystic fibrosis
Hirschprung disease is associated with failure to pass meconium for 48hrs
Bilious emesis within hours after the first breast feeding
Duodenal atresia
A 2 month old baby presents with nonbilious projectile emesis. Diagnosis? Management?
Pyloric stenosis
Hydrate and correct metabolic abnormalities
Pyloromyotomy to correct pyloric stenosis
Most common primary immunodeficiency
Selective IgA deficiency
An infant has high fever and onset of rash as fever breaks. What is he at risk for?
Febrile seizures (due to roseola infantum)
A boy has chronic respiratory infections. Nitroblue tetrazolium test negative
What is the immunodeficiency?
Chronic granulomatous disease
A child has eczema, thrombocytopenia and high levels of IgA. What is the immunodeficiency?
Wiskott-Aldrich syndrome
A 4 month old boy has life-threatening pseudomonas infection. What is the immunodeficiency?
Bruton’s X-linked agammaglobulinaemia
What is the acute phase treatment for Kawasaki disease?
High dose ASA for inflammation and fever
IVIG to prevent coronary aneurysms
What is the treatment for mild and severe unconjugated hyperbilirubinaemia?
Phototherapy (mild) Exchange transfusion (severe)
NB: do NOT use phototherapy for conjugated hyperbilirubinaemia!
Sudden onset mental status changes, emesis &a liver dysfunction after ASA intake
Reye syndrome
A child has loss of red light reflex (white pupil)
What is the diagnosis?
What cancer is he at increased risk of?
Suspect retinoblastoma
Osteosarcoma
6month vaccinations for healthy child
Hep B, DTaP, Hib, IPV, PCV, rotavirus
Tanner stage 3 in a 6 year old girl
Precocious puberty
Infection of small airways with epidemics in winter & spring
RSV bronchiolitis
Cause of neonatal RDS
Surfactant deficiency
Red “currant jelly” stools, colicky abdominal pain, bilious vomiting & sausage shaped mass in RUQ
Intussusception
A congenital heart disease that cause secondary hypertension. What would you find on physical examination?
CoA
Reduced femoral pulses
What is the first line treatment for otitis media?
Amoxicillin
What is the most common pathogen causing croup?
Parainfluenza virus type 1
A homeless child is small for his age and has peeling skin and a swollen belly
Kwashiorkor (protein malnutrition)
Defect in X-linked syndrome with mental retardation, gout, self-mutilation & choreoathetosis
Lesch-Nyhan syndrome (purine salvage problem with HGPRTase deficiency)
A newborn girl has a continuous “machinery murmur”. What drug would you give?
Indomethacin - given to close the PDA
A newborn girl with a posterior neck mass and swelling of the hands
Turner syndrome
A young child presents with proximal muscle weakness, waddling gait & pronounced calf muscles
Duchenne muscular dystrophy
A first-born female who was born in breech position is found to have an asymmetric skin folds on newborn exam.
What is the diagnosis?
What is the treatment?
Developmental dysplasia of the hip
If severe, consider a Pavlik harness to maintain abduction
An 11-year old obese African American boy presents with sudden onset of limp
Diagnosis?
Work up?
Slipped capital femoral epiphysis
AP & frog-leg lateral radiographs
An active 13-year old boy has anterior knee pain
Osgood-Schlatter disease
Mimics of bruising
Mongolian spots (non -pathological)
Coining/cupping (alternative treatments in certain cultures)
Pathological bruises on head and torso or patterning
Hit with hand or belt
Types of burns presentations:
Contact burns — cigarette /curling iron
Immersion burns: —hot water, on buttocks or stocking glove distribution
Mimics of burns injury
Scalded skin syndrome OR Severe contact dermatitis
Epiphysis/metaphyseal bucket fractures
Spiral humerus/femur fracture
Posterior rib fracture indicates?
Indicated squeezing
Mimic of fractures
Osteogenesis imperfecta
Lethargy, feeding difficulty, apnoea, seizures, retinal haemorrhage, subdural/epidural haematoma
Abusive head trauma
Mimic for abusive head trauma
Accidental head trauma
Work up for NAI
X-ray skeletal survey and bone scan
If suspect sexual: gonorrhoea, syphilis, chlamydia, HIV sperm testing within 72hrs of assault
Ophthalmology & non contrast CT for head trauma
MRI : white matter changes associated with violent shaking and extent of intra & extracranial bleeds
Management for NAI
Document injuries
Notify Child Protective Services for possible removal of child from home
Hospitalise if necessary to stabilise or protect child
True or false: neisseria gonorrhoea isolated on vaginal culture is definitive evidence of sexual abuse.
True
True or false: chlamydia trachomatis isolated on vaginal culture is definitive evidence of sexual abuse.
False
It can also be acquired from mother during delivery and can persist for up to 3 years
Intrauterine risk factors for congenital heart disease
Maternal drug use (EtOH, lithium, thalidomide, phenytoin)
Maternal infection (rubella)
Maternal illness (DM, PKU)
5 cyanotic heart defects (R—>L shunts)
Truncus arteriosus TGA Tricuspid atresia TOF TAPVM
Only TGA presents with severe cyanosis within the first few hours of life
A mother presents with her previously healthy 3 month old infant boy, stating that he has been Increasingly difficult to rouse for the past four hours and has lost interest in feeding; she left the baby alone with her boyfriend while she left the home to run errands. While en route to the hospital, the baby stop breathing. Physical examination is notable for occipital bruising. What is the most likely cause of this child apnoea?
Abusive head trauma
This is most common in 3 to 4 month old infants and presents early with non-specific symptoms (lethargy, irritability, poor feeding, vomiting) and later with seizures or apnoea.
There is generally no reported history of her trauma. Subdural haematoma and oedema account for most neurological findings. In babies with abusive head trauma, there is a 50 - 70% chance of prior abuse.
3 non cyanotic heart defects
VSD, ASD, PDA
Most common type and subtype of congenital heart disease
VSD; membranous VSD
Most resolve without intervention
Murmur found in ASD
Fixed, widely split S2
True or false: ASD is an VSD is really present at birth with findings other than harsh systolic murmur
True
ASD is VSDs and PDAs are acyanotic conditions and therefore don’t present with cyanosis unless Eisenmenger syndrome has developed
Left to right shunt leads to pulmonary hypertension and shunt reversal
Eisenmenger syndrome
Condition associated with ASD and endocardial cushion defects
Down syndrome
Condition associated with PDA
Congenital rubella
Condition associated with coarctation of the aorta
Turner syndrome (many also have bicuspid aortic valve)
Condition associated with coronary artery aneurysm
Kawasaki disease
Condition associated with congenital heart block
Neonatal lupus
Condition associated with Conotruncal abnormalities
TOF(overriding aorta)
Truncus arteriosus
DiGeorge syndrome (TOF)
Velocardiofacial syndrome
Apical displacement of the tricuspid valve leaving to atrialisation of the right ventricle
Ebstein abnormality
Condition associated with Ebstein abnormality
Maternal lithium use during pregnancy
Condition associated with heart failure
Neonatal thyrotoxicosis
Condition associated with asymmetric septal hypertrophy and TGA
Maternal diabetes
Definition of septal defect
A condition in which an opening in the atrial or ventricular septum and allows blood to flow between the atria and ventricles, leading to left to right shunting.
VSD is the most common type of congenital heart disease
True or false: small septal defect require treatment
False
Most small ASDs/VSDs close spontaneously and do not require treatment
True or false: antibiotic prophylaxis is recommended prior to procedures
False
Indications for surgical repair in septal defect
Symptomatic patients who fail medical management
Children < 1yo With signs of pulmonary hypertension
Older children with large defects that have not reduced in size over time
Complications of septal defect that are prevented by early correction
Arrhythmias, right ventricular dysfunction, Eisenmenger syndrome
Treatment of existing CHF associated with septal defect
Diuretics (initial treatment)
Positive inotropes
ACE inhibitors
Symptoms associated with ASD
Holt- Oram syndrome (absent radii, ASD, first degree heart block)
Fetal alcohol syndrome
Trisomy 21
Syndrome is associated with VSD
Apart syndrome (cranial deformities, fusion of the fingers and toes)
Down syndrome Fetal alcohol syndrome TORCH infections Cri du chat syndrome Trisomies 13 and 18
Presentation of ASD
Small defects: asymptomatic
Large defects: easy fatigability; frequent respiratory infection; FTT
Presentation of VSD
Small defects: asymptomatic
Large defects: recurrent respiratory infection; dyspnoea; FTT; CHF
Auscultation findings in ASD
Wide, Fixed split S2
Systolic injection murmur at the left USB (increased flow across pulmonary valve)
Major diastolic rumble at the left LSB
Auscultation findings in VSD
Harsh holosystolic murmur at LLSB (louder for small defects)
Narrow S2 with loud P2 (large defect)
Mid diastolic apical rumble (due to increased flow across mitral valve)
Chest x-ray findings in septal defect
Cardiomegaly
Increased pulmonary vascular markings
ECG findings in ASD
RVH
Right atrial enlargement
PR prolongation is common
ECG findings in VSD
LVH (RVH may also be found with large defects)
Echo findings in septal defect
Defect and blood flow across the atrial or ventricular septum
Definition of PDA
Failure of the ductus arteriosus to close in the first few days of life, leading to and acyanotic left to right shunt from the aorta to the pulmonary artery.
4 things to look for in infants presenting in a shop like state within the first few weeks of life
- Sepsis
- Inborn errors of metabolism
- Ductal dependent congenital heart disease usually left-sided lesions
- Congenital adrenal hyperplasia
Presentation of PDA
Typically asymptomatic
Large defects: FTT, recurrent LRTI, clubbing and CHF
Examination findings in PDA
Continuous machinery murmur at second left ICS at the sternal border
Loud S2
Wide pulse pressure and bounding peripheral pulses
Diagnostics test of choice for PDA
Colour flow Doppler echocardiogram
Treatment for PDA
Indomethacin (NSAID) for closure unless PDA is needed for survival
Surgical closure is required if indomethacin fails or if the child is >6-8 mo
Conditions where PDA is needed for survival
TGA, TOF, hypoplastic left heart
Contraindication for indomethacin use
Intraventricular haemorrhage
Definition and aetiology of CoA
Construction of a portion of the aorta, Leading to increased flow proximal to and decreased flow distal to the coarctation
Occurs just distal to the left subclavian artery in 90% of patients
Associations: turner syndrome, berry aneurysms, male gender
More than 2/3 of patients have a BAV
Presentation of CoA
Upper extremity hypertension, Weak femoral pulses
Low extremity claudication, syncopes, epistaxis, headache
Radio femoral delay, short to systolic murmur in the left axilla, forceful apical impulse
Infancy: poor feeding, lethargy, tachypnoea, eventual shock like state when the PDA closes
A 2 yo boy is brought to the paediatrician because of shortness of breath and easy fatiguability during play.
O/E tachypnoea and a soft holosystolic murmur of the left lower sternal border.
What is the most likely cause of the boy’s symptoms?
Large untreated VSD leading to Eisenmenger syndrome
There is less turbulence across a large defect compared with a small one leading to a softer murmur
Diagnostic workup for CoA
Colour flow Doppler echocardiography
CXR younger: cardiomegaly and pulmonary congestion
CXR older: 3 sign & rib notching
What is 3 sign on CXR?
In CoA
Pre-and post dilation of the co-optation segment with aortic wall indentation
What is rib notching on CXR?
In CoA
Collateral circulation through the intercostal arteries
Treatment for CoA
PGE1 to keep ductus arteriosus open (Severe infant)
Surgical correction or balloon angioplasty is controversial
Monitor for restenosis, aneurysm development, aortic dissection
DiGeorge syndrome
CATCH 22
Cardiac abnormalities (TGA)
Abnormal facies (retrognathia/micrognathia, long face, short philtrum, low set ears)
Thymic aplasia
Cleft palate
Hypercalcaemia (2/2 parathyroid hypoplasia/a Genesis)
22q11 deletion
Most common cyanotic congenital heart lesion in the newborn
TGA
Definition of transposition of the great arteries
The aorta is connected to the right ventricle and the pulmonary artery to the left ventricle, creating parallel pulmonary and systemic circulations
Without a septal defect and the PDA it is incompatible with life
True or false: both septal defect and PDA are needed to sustain life in TGA
True
PDA alone is usually not sufficient to allow adequate mixing of blood
Risk factors for TGA
Maternal diabetes
DiGeorge syndrome
Presentation and examination of TGA
Cyanosis within first few hours of life
O/E Tachypnoea, progressive hypoxaemia, extreme sinuses
If the VSD is present a systolic murmur may be heard at the left sternal border
Egg shaped silhouette on chest x-ray
TGA
Diagnostic workup of TGA
Echo
CXR: narrow heart base, Absence of main pulmonary artery segment, egg shape silhouette, Increased pulmonary vascular markings
Treatment for TGA
IV PGE to maintain or open the PDA
Arterial or atrial switch is definitive
Indications for balloon atrial septostomy in TGA
Unfeasible surgery in the first few days of life
PDA cannot be maintained with prostaglandin
Purpose of balloon atrial septostomy
To create or enlarge an ASD in TGA
Most common cyanotic congenital heart disease in children
TOF
4 components of TOF
RVOTO, Overriding aorta, RVH, VSD
Tet spells
TOF
Children off and Scott for relief during hypoxaemic episodes which increase systemic vascular resistance, thus increasing bloodflow to the pulmonary vasculature and improved oxygenation
Presentation of TOF
Tet spells, FTT, mental status changes
O/E: Systolic injection murmur at the left upper sternal border (RVOTO); right ventricular heave; single S2
Diagnosis of TOF
Echocardiography and catheterisation
Boot shaped heart in CXR
TOF
Diagnostic features of TOF
CXR: boot shaped heart & DECREASED pulmonary vascular markings
ECG: right axis deviation & RVH
N.B: Remember that a VSD resulting in increased pulmonary vascular markings
Management of TOF
Severe RVOTO or atresia—> immediate PGE1 & urgent surgical consultation
Tet spells —> 02, propranolol, phenylephrine, knee chest position, fluids and morphine
Surgery: balloon atrial septostomy (temporary palliation); Blalock-Taussig shunt (definitive)
No babbling and all gesturing by 12 months, no two word phrases by 24 months, impaired social interaction, restricted interest, and insistent on routine
Autism
Left hand or chest when prone
Tracks past midline
Alerts to sound; coos
Recognises parent; exhibit social smile
2 months
Rolls front to back, back to front (four months)
Grasps rattle
Laughs and squeals; orients to voice; begins to make consonant sounds
Enjoys looking around; laughs
4 to 5 months
Sits unassisted
Transfers objects; demonstrates raking grasp
Babbles
Demonstrate stranger anxiety
6 months
Crawls; cruises; pulls to stand
Uses three finger (immature) pincer grasp
Says mamma daddy (non-specific); says first word at 11 months
Waves bye-bye; please patt a cake
9 to 10 months
Walks alone; Throws objects
Uses 2 finger (mature) pincer grasp
Uses one to 3 words
Imitate actions; exhibit separation anxiety; Follows one step command
12 months
Walks up and down stairs; jumps
Build a tower of six cubes
Uses two word phrases
Follows to step commands; remove clothes
2 years
Rides tricycle; climb stairs with alternating feet
Copies circle; Uses utensils
Uses three word sentences
Brush his teeth with help; washes or dries hands
3 years
Hops
Copies a cross (Square at 4.5 years)
Knows colours and some numbers
Exhibit cooperative play; plays board games
4 years
Skips; walks backward for long distances
Copies a triangle; ties shoelaces; knows left and right; prints letters
Uses five word sentences
Exhibits domestic role-playing; plays dress up
5 years
True or false going on For premature infants lesson two years of age, chronological age must be adjusted for gestational age
True
For example, an infant born at seven months gestation. (2 months early) would be expected to perform at 4 month level at the chronological age of six months
Infants with FTT will fall off the head circumference, weight and height curves in which order?
Weight, height, head circumference
What does an increased head circumference indicate?
Hydrocephalus or tumour
Measured routinely in the first two years
What does a reduced head circumference indicate?
Microcephaly (E.g. TORCH infections)
Measured routinely in the first two years
True or false: it is abnormal for infants to lose 5% of their body weight in the first few days
False
Infants may lose 5 to 10% of body weight over the first few days but should return to their body weight by 14 days
BW doubles by 4 to 5 months
Triples by the 1 year
Quadruples by 2 years
Definition of FTT
Persistent weightLess than the 5th percentile for age or falling off the growth curve (i.e., crossing two major percentile lines on a growth chart)
Causes of organic FTT
Due to an underlying medical condition
Cystic fibrosis, congenital heart disease, coeliac’ sprue, pyloric stenosis, chronic infection(E.g. HIV), GORD
Causes of non-organic FTT
Primarily due to psychosocial factors
Poverty, inaccurate mixing of formula (too much water mixed in), maternal depression, neglect or abuse
Management of neglect or severe malnourishment
Children should be hospitalised
Calorie counts & Supplemental nutrition if breastfeeding is inadequate
Order of Tanner stages of sexual development in girls
Thelarche —> Pubarche —> growth spurt —> menarche
Order of Tanner stages for sexual development in boys
Gonadarche —> Pubarche —> adrenarche —> Growth spurt
Age of precocious puberty in girls
< 8 years
Age of precocious puberty in boys
< 9 years
Age of delayed puberty in girls
> 13 years
Age of delayed puberty in boys
> 14 years
Average age of puberty in girls
10.5 years
Average age of menarche in US girls
12.5 years
Average age of puberty in boys
11.5 years
Any sign of secondary sexual maturation in girls < 8 years or boys < 9 years of age.
Orphan idiopathic; maybe central or peripheral
Precocious puberty
No testicular enlargement in boys by age 14, or no breast development or pubic hair in girls by age 13
Delayed puberty
A normal variant, and the most common cause of delayed puberty
The growth curve legs behind others of the same age but remains consistent
There is often a positive family history, and children ultimately achieve target height potential
Constitutional growth delay
Causes of pathological puberty delay
Systemic disease (e.g. IBD)
Malnutrition (e.g. anorexia nervosa)
Gonadal dysgenesis (e.g. Klinefelter syndrome, turner syndrome)
Endocrine abnormalities (e.g. hyperpituitarism, hypothyroidism, Kallmann syndrome, androgen insensitivity syndrome, Prader Willi syndrome)
Trisomy 21 As a result of meiotic nondisjunction (95%), Robertsonian translocation(4%), or mosaicism (1%)
Down syndrome
Trisomy 18
Edwards syndrome
Trisomy 13
Patau Syndrome
The most common chromosomal disorder and cause of intellectual disability
Down syndrome
Trisomy associated with advanced maternal age
Down syndrome
Intellectual disabilities, flat facial profile, up slanted eyes with epicanthal folds, single palmar crease, general hypotonia, and extra neck folds (nuchal folds are sometimes seen on prenatal ultrasound)
Down syndrome
Associated with atlantoaxial instability, duodenal atresia, Hirschprungs disease & congenital heart disease
Down syndrome
Most common cardiac malformations in Down’s syndrome
AV canal (60%); ASDs, VSDs, and PDAs(20%), complex congenital heart disease
Trisomy associated with an increased risk of ALL, Hypothyroidism, and early onset Alzheimer’s disease
Down syndrome
Trisomy presenting with severe intellectual disabilities, rocker bottom feet, low set ears, micrognathia, clenched hands (Overlapping fourth and fifth digits), prominent occiput
Death usually occurs within one year of birth
Edwards syndrome
Associations of Edward syndrome
Congenital heart disease; horseshoe kidneys
Trisomy presenting with severe intellectual disabilities, microphthalmia, microcephaly, Cleft lip and palate, holoprosencephaly, punched out scalp lesions, Polydactyly, omphalocele
Death usually occurs within one year of birth
Patau syndrome
47, XXY in males
Associated with advanced maternal age
Klinefelter syndrome
Characterised by the presence of an activated X chromosome (Barr body)
One of the most common causes of hypogonadism in males
Klinefelter syndrome
Presents with testicular atrophy, Eunuchoid body shape, tall stature, long extremities, gynaecomastia, female hair distribution
Klinefelter syndrome
Treatment of Klinefelter syndrome
Testosterone
Prevents gynaecomastia; improves secondary sexual characteristics
45, XO in females
Not associated with advanced maternal age
Turner syndrome
Missing 1 X chromosome; no Barr body
Most common cause of primary amenorrhoea
Turner syndrome
Due to ovarian dysgenesis (treat with oestrogen)
Short stature, shield chest, widely spaced nipples, webbed neck, CoA (weak femoral pulses), And or BAV
Turner syndrome
Represented lymphoedema of the hands and feet in the neonatal period
May have horseshoe kidney
47, XYY
Observed with increased frequency among inmates of penal institutions
Double Y males
Patients often look normal; some patients are very tall with severe acne (seen in 1 to 2% of XYY male patients)
Double Y males
Mode of inheritance of PKU
Autosomal recessive
PKU is screened for at birth
Aetiology of PKU
Decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor
Tyrosine becomes essential, and phenylalanine accumulates and it is subsequently converted it to its ketone metabolites
Normal at birth
First few months of life presents with intellectual disabilities, fair hair and skin, Eczema, blond hair, blue eyes, Musty odour in urine
PKU
Associated with high risk of heart disease
Management of pique you
Reduce dietary phenylalanine (Artificial sweeteners) & Increased dietary tyrosine
Mother with PKU who wants to become pregnant must restrict her diet as above before conception
Mode of inheritance of fragile X syndrome
X linked dominant
Aetiology of fragile X syndrome
Caused by defect affecting the methylation and expression of the FMR1 gene; A triplet repeat disorder that may show genetic anticipation
Second most common genetic cause of intellectual disabilities
Fragile X syndrome
Large jaw, Large testes and large ears with autistic behaviours
Fragile X syndrome
Mode of inheritance of Fabry disease
X linked recessive
Aetiology of Fabry disease
Caused by a deficiency of alpha galactosidase A that leads to accumulation of ceramide trihexoside in the heart, brain and kidneys
Severe neuropathic limb pain (or joint swelling); angiokeratomas and telangiectasias
Renal failure and an increased risk of stroke and MI (Thromboembolic events)
Fabry disease
The first sign of Fabry disease
Severe neuropathic limb pain
Mode of inheritance of Krabbe disease
Autosomal recessive
Aetiology of a Krabbe disease
Absence of galactosylceramide and galactoside (due to galactosylceramidase deficiency), leading to the accumulation of galactocerebroside in the brain
Progressive CNS degeneration, optic atrophy, Spasticity, and death within the first three years of life
Krabbe disease
Mode of inheritance of Gaucher’s disease
Autosomal recessive
Aetiology of Gaucher disease
Deficiency of glucocerebrosidase (also known as acid beta glucosidase) that leads to the accumulation of glucocerebroside in the brain, liver, spleen, and bone marrow
Crinkled paper appearance with enlarged cytoplasm
Gaucher cells
Anaemia and thrombocytopenia
Infantile form: early, rapid neurological decline
Adult (more common): Compatible with a normal lifespan and does not affect the brain
Gaucher’s disease
Mode of inheritance of Niemann- Pick disease
Autosomal recessive
Aetiology of Niemann Pick disease
No man PICKS his nose with his sphinger!
Deficiency of sphingomyelinase that leads to the buildup of sphingomyelin cholesterol in reticuloendothelial and parenchymal cells and tissues
Cherry red spot and hepatosplenomegaly
Patients with type A die by age 3
Niemann Pick disease
Mode of inheritance of Tay-Sachs disease
Autosomal recessive
Aetiology of Tay-Sachs disease
Absence of hexosaminidase leading to GM2 ganglioside accumulation
Tay-SaX lacks heXosaminidase!
Infants may appear normal until 3 to 6 months of age, when weakness begins and development slows and regresses. An exaggerated startle response may be seen.
Cherry red spot but NO hepato-splenomegaly
Tay-Sachs disease
Carrier rate 1 in 30 Jews of European descent(One in 300for others)
Death occurs by age 3
Tay-Sachs disease
Mode of inheritance of metachromatic leucodystrophy
Autosomal recessive
Aetiology of metachromatic leucodystrophy
Deficiency of arylsulfatase A lead to an accumulation of sulphatide in the brain, kidney, liver, and peripheral nerves
Demyelination leading to progressive ataxia and dementia
Metachromatic leukodystrophy
Mode of inheritance of Hurler syndrome
Autosomal recessive
Corneal clouding, intellectual disabilities, and gargoylism
Hurler syndrome (a-L-iduronidase deficiency)
Mode of inheritance of Hunter syndrome
X linked recessive
Aetiology of Hunter syndrome
Iduronate sulphatase deficiency
Mild form of Hurler Syndrome with no corneal clouding and mild intellectual disabilities
Hunter syndrome
Hunters need to see (no corneal cloud in) to aim for the X!
True or false: almost all cases of meconium ileus are due to cystic fibrosis
True
Mode of inheritance of cystic fibrosis
Autosomal recessive
Aetiology of cystic fibrosis
Mutations in the CFTR gene (chloride channel) on Chr7 and characterised by widespread exocrine gland dysfunction
Most common severe genetic disease in the United States and most frequently found in whites
Cystic fibrosis
Neonates presenting with obstruction of the distal ileum due to abnormally thick meconium
Cystic fibrosis
Presentation of cystic fibrosis in patients under one years
Cough, wheezing, recurrent respiratory infections
May also have steatorrhea and or FTT
Presentation of cystic fibrosis in patients older than one year
FTT (due to pancreatic insufficiency) OR Chronic sinopulmonary disease or sputum production
Typical recurrent pulmonary infections in cystic fibrosis patients
Pseudomonas
Staph aureus
Most common pulmonary symptom in cystic fibrosis
Chronic cough
Respiratory symptx in CF
Digital clubbing, chronic cough, dyspnoea, bronchiectasis, haemoptysis, chronic sinusitis, rhonchi, rales, Hyperresonance to percussion, nasal polyposis
Symptoms of pancreatic insufficiency in CF
Greasy stools, Flatulence
Pancreatitis, rectal prolapse, Hypoproteinaemia, biliary cirrhosis, jaundice, oesophageal varices
Additional atypical symptoms of cystic fibrosis
T2DM, salty tasting skin, male infertility (agenesis of the vas deferens ), unexplained hyponatraemia
Vitamin deficiency in cystic fibrosis
Vitamins A, D, E, K
Secondary to malabsorption and they present with manifestations of these deficiencies (i.e., Nightblindness, Ricketts, neuropathy, coagulopathy)
Diagnosis of cystic fibrosis
Sweat chloride test (pilocarpine electrophoresis)
Genetic testing for confirmation
Most states now perform mandatory newborn screening
Treatment and management of cystic fibrosis
Chest physical therapy, bronchodilators, corticosteroids for pulmonary manifestations
Antibiotics to cover pseudomonas and DNase
Pancreatic enzymes and fat-soluble vitamins for malabsorption
High calorie and high protein diet
Lung or pancreas transplants for those with severe disease who can tolerate surgery
Definition of intussusception
Portion of the bowel invaginates or telescopes into an adjacent segment, usually proximal to the ileocecal valve
Most common cause of balance traction and children between six months and three years
Intussusception
Risk factors for intussusception
Meckels diverticulum; Intestinal lymphoma (>6 yrs); Submucosal haematoma (HSP); Polyps; CF (lead point is inspissated stool)
Antecedent GI or URI Is seen in many children, which may cause formation of a lead point trough enlargement of Peyer patches
Classic triad of intussusception (only 1/3 pts)
Severe of abdo pain; Vomiting (initially non-bilious then bilious); currant jelly stool (bloody mucus in stool)
Abdominal tenderness, positive stool guaiac, Palpable sausage shaped RUQ abdominal mass, empty RLQ on palpation (Dance sign)
Intussusception
Diagnosis of intussusception
Target sign on USS(During painful episode)
AXR:‘s small bowel obstruction, Perforation, soft tissue mass
Management of intussusception
Correct volume/electrolytes; CBC for leucocytosis, NG tube for decompression
Air insufflation enema (if high clinical suspicion)
Indications for surgical reception in intussusception
Peritoneal signs, unsuccessful enema reduction, Identification of a pathological lead point
Which is the preferred diagnostic method, barium contrast enema or air insufflation enema?
Air insufflation enema
Preferred over water or barium contrast enema for diagnosis and management of intussusception, as it is faster and carries a low risk of complications
Most common cause of GI tract obstruction in infancy
Pyloric stenosis
Nearly all cases are diagnosed between three and 12 weeks of age
Definition of pyloric stenosis
Hypertrophy of the pyloric sphincter, leading to gastric outlet obstruction
More common in first born infant boys
Associations in pyloric stenosis
Tracheoesophageal fistula, Formula feeding, maternal erythromycin ingestion
Non-bilious emesis typically beginning around 3 to 5 weeks of age progressing to projectile emesis after most or all feeding
Pyloric stenosis
Infants are generally hungry after episodes of vomiting; they initially said feed well but eventually suffer from dehydration and malnutrition
Palpable olive shaped, mobile, non-tender epigastric mass and visible gastric peristaltic waves
Pyloric stenosis
Diagnosis of pyloric stenosis
Thickened, elongated pylorus on USS
Hypochloraemic, hypokalaemic metabolic alkalosis (loss of HCL and RAAS activation from emesis)
String sign (narrow pyloric channel on barium studies)
Management of pyloric stenosis
NPO, IV access, correct dehydration and acid base or electrolyte abnormalities
Definitive surgical management (pyloromyotomy)
A three-year-old boy born at 39 weeks gestational age via normal spontaneous vaginal delivery has failed to pass meconium and today displays abdominal distension and five episodes of non-bilious vomiting. Rectal exam shows no stool in the rectal vault.
Air contrast enema shows an obstruction at the ileum.What is the most likely cause of this patient symptoms?
This infant most likely has meconium ileus resulting from cystic fibrosis
However, Hirschsprung’s disease should remain on the differential diagnosis, as it also can cause delayed meconium passage. Meconium ileus causes obstruction of the level of the ileum, whereas Hirschsprung’s disease causes rectosigmoid obstruction and rectal exam may result in the expulsion of stool.
Most common complication of Meckel diverticulum
Bleeding
It may be minimal, or severe enough to cause haemorrhagic shock
Meckel’s rule of 2s
Affects 2% of the population 2% symptomatic by age 2 2X more common in boys 2 tissues (Gastric and pancreatic) 2 inches long Within 2 feet of the ileocecal valve
Definition of Meckel’s diverticulum
Failure of the omphalomesenteric (or vitelline) duct to obliterate, resulting in the formation o a true diverticulum (containing all 3 layers of the intestine)
The heterotopia gastric tissue present in most Meckels diverticula causes intestinal ulceration and painless haematochezia
Most common congenital abnormality of the small intestines affecting up to 2% of children
Meckel’s diverticulum
Boys more than girls
Most frequently symptomatic in children under two years of age
Asymptomatic with an incidental finding of painless rectal bleeding
Meckels diverticulum
Complications of Meckel’s diverticulum
Intestinal perforation or obstruction, diverticulitis (which can mimic acute appendicitis), intussusception
Diagnostic test of choice for Meckel’s diverticulum
Meckel scintigraphy scan
Tn-99m pertechnetate detects ectopic gastric tissue
Treatment of Meckel’s diverticulum
Surgical excision of the diverticulum together with the adjacent ileal segment
Indications for urgent surgery: – haemorrhage – divericulitis – intestinal perforation – obstruction or intussusception
Definition of Hirschsprung’s disease
Congenital lack of ganglion cells in the distal colon, leading to decreased motility due to unopposed smooth muscle tone in the absence of enteric relaxing reflexes and uncoordinated peristalsis
Associated diseases to Hirschsprung’s disease
Male gender, down syndrome, Waardenburg syndrome, MEN2
Neonate presenting with failure to pass meconium within 48 hours of birth, accompanied by bilious vomiting and FTT
Hirschsprung’s disease
Examination findings in Hirschsprung’s disease
Explosive faecal discharge following DRE
Abdominal distension, lack of stool in the rectum, abnormal sphincter tone
Imaging study of choice for Hirschsprung’s disease
Barium enema
Reveals a narrow distal colon with proximal dilation
AXR Reveals distended bowel loops with the paucity of air in the rectum
Anorectal manometry: The text failure of the internal sphincter to relax after distension of the rectal lumen (atypical presentation)
Rectal biopsy for confirmation
Definitive diagnostic test for Hirschsprung’s disease
Rectal biopsy
Confirms the diagnosis and reveals absence of the myenteric (Auerbach) plexus and submucosal (Meissner) plexus along with hypertrophied nerve trunks enhanced with acetylcholinesterase stain
Surgical treatment of Hirschsprung’s disease
2 stage surgical repair:
– Immediate creation of a diverting colostomy
– definitive pull through procedure connecting the remaining colon to the rectum few weeks later
A three week old ex-term infant boy is brought to the ED after experiencing vomiting of increasing frequency and intensity for the past week. His parents state that he now vomits forcefully after every meal and enthusiastically attempts to eat immediately after vomiting. The infant appears lethargic, with sunken fontanelles and decreased skin turgor. The abdomen is soft, non-tender, and non distended; no masses of felt. What is the most likely cause of this infant symptoms?
Pyloric stenosis
An obstruction of the gastric outlet secondary to hypertrophy and hyperplasia of the muscle layers of the pylorus.
Note that most (60 to 80%) but not all infants present with an olive shaped abdominal mass
Definition of malrotation with volvulus
Congenital malrotation of the midgut results and abnormal positioning of the small intestine (caecum in the right hypochondrium) and formation of fibrous bands (Ladd bands), which predisposed to obstruction and constriction of bloodflow
Three week old neonate with bilious emesis, crampy abdominal pain, distension, and positive blood or mucus in the stool
Malrotation with volvulus
Abdominal x-ray findings in malrotation of the volvulus
Bird beak appearance and air fluid levels
Investigation of choice in malrotation with volvulus
Upper GI series
If the patient is stable and shows an abnormal location of the ligament of Treitz.
Ultrasound may be used, but is sensitivity is contingent on the experience of the ultrasonographer.
Management of malrotation with volvulus
NG tube to decompress intestines, IV fluid hydration
Surgical repair (gastric); surgery or endoscopy (intestinal)
Definition of necrotising enterocolitis
A portion of the bowel (most commonly terminal ileum/proximal colon) undergoes necrosis
Most common GI emergency in neonates
NEC
Risk factors for NEC
Low-birth-weight, hypotension, enteral feeding (especially formula)
One week old with feeding intolerance, delayed gastric emptying, abdominal distension, and bloody stools
NEC
Complications of NEC
Intestinal perforation, peritonitis, abdominal erythema, and shock; Intestinal strictures; short bowel syndrome
Pathognomonic for NEC in neonates
Pneumatosis intestinalis on plain films
Imaging modality of choice in NEC
Plain AXR showing dilated bowel oops, pneumatosis intestinalis (intramural air bubbles representing gas produced by bacteria within the bowel wall), Portal venous gas, or abdominal free air (in the case of bowel perforation)
Serial abdominal pain film should be taken every six hours
USS may be also be helpful in discerning free air, areas of loculation, and bowel necrosis
Management of NEC
Supportive: NPO, Orogastric tube for gastric decompression, correct dehydration and electrolyte, TPN, IV Abx
Surgery– Ileostomy with mucous fistula later reanastomosis
Indications for surgery in the NEC
Perforation (free air under the diaphragm)Or worsening radiographic signs on serial abdominal plain films
B cells or T cells: Make immunoglobulins and are responsible for immunity against extra cellular bacteria
B cells
B cells or T cells: Responsible for immunity against intracellular bacteria, viruses, and fungi
T cells
Name the B-cell disorders
Bruton agammaglobulinaemia
Common variable immuno deficiency (CVID)
IgA deficiency
Name the T-cell disorders
Thymic aplasia (DiGeorge syndrome)
Name of the combined b-cell T-cell disorders
Ataxia-telangiectasia
SCID
Wiskott-Aldrich syndrome
Name the phagocytic deficiencies
Chronic granulomatous disease (CGD)
Leucocyte adhesion deficiency
Chédak-Higashi syndrome
Job syndrome (hyper immunoglobulin E syndrome)
Name the compliment disorders
C1 esterase inhibitor deficiency (hereditary angioedema)
Terminal complements deficiency (C5-9)
Untreated Kawasaki disease can lead to _________ in up to 25% of patients
Coronary aneurysms
Newborn presents with lymphoedema of the hands and feet, weak femoral pulses, webbed neck, widely spaced nipples, short 4th metacarpals, and nail dysplasia. What form of hormone replacement therapy will the child need in the future?
Oestrogen replacement therapy is required for ovarian dysgenesis
Without exogenous oestrogen, this child will be at increased risk of delayed puberty and osteoporosis later in life
