Pediatric Presentations

History
� Exercise intolerance (fatigue, pallor, tachycardia)
� Exertional dyspnoea and tachypnoea
� Recurrent bronchopulmonary infections
� Failure to thrive
Examination
� Normal skin tone
� Hepatomegaly
� Peripheral oedema
� Pulmonary oedema
� Low BP

Acyanotic heart disease

Usually asymptomatic but large defects will have the general presentation plus palpitations. Symptoms manifest with advancing age (> 1 year). On auscultation there may be a systolic ejection murmur over left sternal border or S2 splitting in the same area

Atrial septal defect

A 6-year-old girl is brought to her paediatrician for routine well-child care. She is doing well and has never experienced chest pain, palpitations, or syncope. She actively participates in a dance class and reports being able to keep up with her peers. T

Atrial septal defect

A 45-year-old woman seeks treatment for frequent palpitations. The patient did well throughout the first 2 decades of life. In her mid-20s she noticed that she became slightly short of breath with exertion. She has recently been seen twice in the hospital

Atrial septal defect

Small defects are usually asymptomatic but larger defects will have the general presentation and can lead to heart failure in first 3 months of life (earlier presentation that ASD because of higher severity). There may be a parasternal heave and harsh hol

Ventral septal defect

Asymptomatic if small, but large defect will have nonspecific symptoms like failure to thrive and heart failure symptoms in infancy. There will be a heavy, laterally displaced apical impulse with bounding peripheral pulses, wide pulse pressures, and a con

Patent ductus arteriosus

A 1.5 month-old infant girl is brought to her paediatrician for poor feeding. Since she was last seen at 2 weeks she has had poor weight gain. She sweats with feeds and seems to tire out easily. There is no significant family history. On physical examinat

Patent ductus arteriosus

A 28 week premature boy is treated with appropriate doses of surfactant. However, on his second day of life he has worsening symptoms of respiratory distress syndrome with increasing ventilatory requirements. He has also started demonstrating apnoeic epis

Patent ductus arteriosus

Generally asymptomatic until complications occur.

Patent foramen ovale

A 43-year-old male smoker with no significant past medical history presents with sudden onset of right-sided weakness of his body. He has no previous history of HTN, diabetes mellitus or CVA. Physical examination reveals right-sided hemiparesis with expre

Patent foramen ovale

Infants (often pre-ductal as this is more severe and easier to catch)
� Asymptomatic if PDA or narrowing is mild
� Cyanosis in lower extremities (dfferential cyanosis)
� Weak femoral pulses (brachio-femoral delay)
� General symptoms
� Shock and multi-orga

Coarctation of the aorta

A 4-year-old boy presents to his paediatrician for a well-child visit. His mother reports him to be doing well and has no concerns. On examination, he is noted to have a right upper extremity blood pressure of 140/70 mmHg. His cardiovascular examination s

Coarctation of the aorta

A newborn infant is noted to have respiratory distress 2 days after birth. On examination she is mottled and has weak upper extremity pulses with no palpable femoral pulses. Her arterial blood gas shows a profound metabolic acidosis.

Coarctation of the aorta

A 21-year-old active college student with no past medical history has sudden loss of consciousness, 1 hour into a game of basketball. CPR is administered by bystanders. On arrival of emergency medical professionals he has regained consciousness. The famil

Obstructive/hypertrophic cardiomyopathy

A 60-year-old woman has progressive dyspnoea on exertion over the last 2 months. She is otherwise well, with no risk factors for ischaemic heart disease. Family history is significant for a cousin who died suddenly in his youth, and is otherwise unremarka

Obstructive/hypertrophic cardiomyopathy

� Blue babies: pale grey or blue skin colour caused by cyanosis
� Nail clubbing
� Exertional dyspnoea
� Squatting for relief during hypoxemic episodes
� Poor weight gain, failure to thrive
� Characteristic heart murmurs

Cyanotic heart disease

� Tet spells (hypercyanotic, hypoxic episodes associated with stress like crying, feeding, pooing): baby cries and goes blue, legs become painful
� Children tend to squat
� Harsh systolic murmur on left upper sternal border

Teratology of fallot

� Postnatal central cyanosis
o When given O2, PDA will close and baby will get worse (more blue)
� Tachypnoea
� Auscultation: single, loud S2

Transposition of the great vessels

� Central cyanosis at birth
o Baby gets better with O2 administration
� Heart failure and fluid overload in lungs
� Accentuated and bounding peripheral pulses
� Harsh systolic murmur at lower left sternal border, loud S2

Truncus arteriosus

� Systolic and diastolic murmur
� Symptoms of right heart failure
� Cyanosis
� Dyspnoea
� Cardiogenic shock

Total Anomalous Pulmonary Venous Return

� Central cyanosis
� VSD holosystolic murmur

Tricuspid Atresia

tricuspid regurgitation and right heart enlargement that is associated with prenatal lithium exposure and can cause in-utero heart failure or cyanosis post-birth.

Ebstein anomaly

. It will present with cyanosis, dyspnoea, and metabolic acidosis. It rare, but the leading cause of congenital heart death.

Hypoplastic left heart syndrome

Infant or toddler with a viral prodrome � barking/seal-like cough + inspiratory stridor, worse at night

Croup

Croup

A 2-year-old boy is brought to the emergency department by his parents in the middle of the night. He has had mild symptoms of an upper respiratory infection for 48 hours, awoke with a sudden onset of seal-like barky cough, and has had inspiratory stridor

Croup

A 3-year-old boy is brought to the emergency department by his parents in the late evening. He has developed a sudden onset of a seal-like barky cough, accompanied by clear nasal discharge. His parents became alarmed when he developed stridor, which persi

Croup

A toddler with URTI symptoms and a persistent cough, possibly with coloured sputum
History
� Persistent cough, worse at night: > 5 days, may last up to 8 weeks
� Coloured sputum: yellow or green (does not indicate bacterial infection)
� Runny nose and sor

Bronchitis

A 4-year-old girl with no known underlying lung disease has had a 12-day history of cough that has become productive of sputum. Initially she was not short of breath, but now she becomes short of breath with exertion. She initially had nasal congestion an

Bronchitis

Toddler or infant with a cough and URTI symptoms, but who also has signs of respiratory distress.
History
� Cough, often wet or croupy
� Low grade fever
� Runny nose
� Difficulty feeding
Examination
� Signs of respiratory distress
o Tachypnoea
o Cyanosis

Bronchiolitis

A 10-week-old boy presents to his family doctor in January because his mother feels his breathing is laboured. He was a full-term product of an uncomplicated pregnancy, labour, and delivery. His mother smoked during pregnancy and continues to do so. The f

Bronchiolitis

History
� Severe malaise
� High fever
� Chills
� Productive cough with yellow-greenish sputum
� Dyspnoea
� Pleuritic chest pain when breathing, may have pleural effusion
� Pain projecting to abdomen and epigastric region (especially if child)
Examination

Pneumonia

A 54-year-old smoker with multiple comorbidities (diabetes, hypertension, coronary artery disease) presents with a 2-day history of a productive cough with yellow sputum, chest tightness, and fever. Physical examination reveals a temperature of 38.3�C (10

Pneumonia

Young child with bout of coughing, wheezing, or shortness of breath. It can also describe episodes triggered by infection.

RAD

� Persistent dry cough that worsens at night and with exercise or on exposure to irritants
� Dyspnoea
� Chest tightness
� Chronic allergic rhinitis with nasal congestion
� End-expiratory wheeze

Chronic asthma

� Acutely breathless, speaking in single words or not at all
� Expiratory +/- inspiratory wheeze
� Decreased breath sounds, hyper-resonant percussion
� Use of accessory muscles
� Tachycardia, tachypnoea
� Pulsus paradoxus
� Altered level of consciousness

Asthma attack

Asthma attack

An 8-year-old boy presents with intermittent wheeze and cough, and with a history of asthma. Over recent months he has had problems with night-time wheeze and shortness of breath. He is waking at least 3 or 4 nights per week since recovering from an upper

Asthma

A 3-year-old girl presents with a history of episodes of wheeze and troublesome cough over the past 2 years. These episodes are more common through the winter months. On 2 occasions she has been given oral corticosteroids because of severe wheeze, which w

Asthma

Young children with rapid onset sore throat + high fever +/- stridor
� Rapid, high, spiking fever
� Trouble breathing � tripoding, retractions, flaring etc
� Sore throat � muffled hot-potato voice, drooling, food refusal
� Inspiratory stridor (due to uppe

Epiglottitis

A 4-year-old boy presents to the emergency department with complaints of dysphagia, fever, drooling, and muffled voice. Symptoms have progressively worsened over the course of the day. He is toxic-appearing, and leans forwards while sitting on his mother'

Epiglottitis

History
� Sudden onset
� Fever
� Sore throat, pain on swallowing
� Nausea and vomiting
� Abdominal pain
Examination
� Red and swollen pharynx
� Tonsillar exudates, appearing as white patches
� Painful, swollen cervical lymph nodes
� Foul breath

Tonsilitis

A 6-year-old previously healthy boy presents with acute onset of fever of 39�C (102�F), severe throat pain that is exacerbated by swallowing, headache, and malaise. On examination his tonsils are symmetrically enlarged and red, with purulent exudate. He h

Tonsillitis

History
� Hoarseness/loss of voice
� Dry cough (barking cough may occur in severe cases)
� Fever, dysphagia, and lymph node enlargement in cases of severe infection
� Symptoms of the underlying disease (e.g., retrosternal pain in GERD, frontal headaches i

Laryngitis

A 45-year-old man presents with hoarseness for 5 days, cough, and pain on swallowing. He has no fever but complains of increased mucus in his throat and occasional difficulty breathing. He has no prior history of hoarseness, surgery to the larynx, intubat

laryngitis

Sudden onset of:
� Tachypnoea
� Nasal flaring and moderate to severe subcostal/intercostal and jugular retractions
� Expiratory grunting
� Decreased breath sounds on auscultation
� Cyanosis

Neonatal respiratory distress

History
� Recurrent episodes of sneezing, nasal congestion, rhinorrhoea, and post-nasal drip
� Itchy nose and throat
� May occur with allergic conjunctivitis (itchy red watery eyes) and atopic dermatitis and/or bronchial asthma
� May cause sleep disturban

Allergic rhinitis

A 22-year-old student presents with a 5-year history of worsening nasal congestion, sneezing, and nasal itching. Symptoms are year-round but worse during the spring season. On further questioning it is revealed that he has significant eye itching, redness

Allergic rhinitis

History
� Headache, facial pain or pressure, worse leaning forward
� Nasal blockage
� Nasal discharge
� Reduction or loss of smell
Examination
� Redness and swelling over affected area
o Maxillary: over cheeks and mimics dental pain
o Frontal: lower foreh

Rhinosinusitis

A 19-year-old woman presents with a 12-day history of purulent nasal drainage and nasal congestion, and reports a history of fever, myalgia, and facial pressure. She is otherwise healthy and works as a teacher. After 5 days of illness, the patient's sympt

Rhinosinusitis

A 33-year-old man with a medical history of paediatric-onset asthma, atopic dermatitis, and allergic rhinitis presents with a 7-day history of facial pressure, dental pain, nasal blockage, and hyposmia. The patient developed these symptoms after recently

Rhinosinusitis

Bowel obstruction

History
� Acute cyclical colicky abdominal pain � sudden screaming or crying spells with asymptomatic intervals when child is quieter (every 15-30 minutes)
� Vomiting (initially non-bilious)
� Lethargy
� Red currant jelly stool (late sign - indicates muco

Intussusception

A 9-month-old boy presents to the emergency department with a 24-hour history of colicky abdominal pain, anorexia, fever, and progressive lethargy. Episodes of pain last 1 to 2 minutes marked by crying and drawing his knees to his chest, alternating with

Intussusception

Presentation
� Bulge or swelling in the groin or scrotum, maybe only during crying or straining
� Generally painless, unless there is strangulation
� May be incarcerated or irreducible, so repair is necessary

Infantile hernia

An infant, 2-6 weeks old, likely male, with projectile vomiting.
History
� Frequent regurgitation progressing to projectile, non-bilious vomiting immediately after feeding
� Hungry vomiter: demands re-feeding after vomiting, demonstrates a strong rooting

Hypertrophic pyloric stenosis

A 5-week-old, full-term male infant presents with progressive post-feeding emesis for the past 2 weeks. Initially he was diagnosed as having formula intolerance; formula type was changed several times without relief. Subsequently, he was thought to have g

Hypertrophic pyloric stenosis

History
� Diarrhoea, generally large volumes, may be bloody
� Vomiting
� Abdominal cramps
� Fever
� Fatigue
� Headache
� Muscle pain
For generally less than 2 weeks. Usually have a sick contact.

Gastroenteritis

A 6-month-old boy presents with a history of low-grade fever of 37.7�C (100�F) and non-bilious vomiting (6 episodes per day) for 2 days. This is followed by diarrhoea (15 stools per day) 24 hours later. Stools are watery and do not contain blood or mucus.

Gastroenteritis

spitting up, posseting or bringing milk up, effortless

Reflux

spitting up, posseting or bringing milk up, effortless plus poor weight gain, feeding difficulties, irritability and unsettled behaviour before, during and after a feed

GORD

A 3,480 g male infant was born after 40 weeks' gestation. There were no complications during the pregnancy and delivery. He did not pass meconium after birth, and he had the onset of vomiting on the first day. His abdomen became mildly distended. The infa

Hirschprung's disease

Red Flags
� Intestinal obstruction signs
� Delayed passage of meconoim
� Constipation in the first weeks of life
� Neurological deficit
� Anal malformation
� IBD

Constipation

A 5-month-old baby boy presents with difficulty and delay in passing hard stools. His mother reports that he strains for several hours and may even miss a day, before passing stool with screaming and occasional spots of fresh blood on the stool or nappy.

Constipation

A 14-year-old girl, concerned about body image, altered her diet and decreased her oral intake hoping to lose weight. Additionally, she avoided toilets at school due to their lack of cleanliness. She presented to her paediatrician with the complaint of ab

Constipation

Early
� Delayed passage of meconium
� Distal intestinal obstruction: abdominal distention and bilious vomiting
� Tight anal sphincter with explosive release of stools and air upon removal of the finger
� Failure to thrive/poor feeding
� Palpation of faece

Hirscprung's disease

A 4-day-old baby presents with bilious vomiting and significant abdominal distension.

Hirschprung's disease

A 1-month-old baby boy presents with feeding intolerance, abdominal distension, and copious diarrhoea.

Hirschprung's disease

Lethargy, distended abdomen, gastric retention, vomiting, diarrhoea, rectal bleeding + abdominal tenderness, visible intestinal loops lacking peristalsis

Necrotising enterocolitis

UTI

� Fluctuant painless swelling of affected scrotum (size changes throughout the day or intra-abdominal pressure)
o May be present since infancy or childhood
o May or may not be reducible
� Palpation above the swelling is possible: a normal spermatic cord a

Hydrocele

A 12-month-old boy presents to his primary care physician with a right scrotal mass. The mass is smaller in the morning than in the evening and increases significantly in size during crying. It gets smaller again when he is lying down. He has no gastroint

Hydrocele

� Palpable testicle cannot be manually manipulated into scrotum, or testicle not palpable

Cryptoorchidism

fever + seizure

febrile seizure

Febrile seizure

A previously healthy and developmentally normal 18-month-old boy presents to the emergency department by ambulance after his parents witnessed a seizure. The parents report the boy had a febrile illness with mild upper respiratory symptoms and they treate

Febrile seizure

A 10-month-old girl is brought to the emergency department with a history of recurrent right arm and leg jerking followed by prolonged sleepiness. The parents report a 2-day history of fever with chest congestion and irritability. The child is admitted to

Febrile seizure

Red Flags
� Head injury with delated seizure
� Developmental delay or regression
� Headache prior to seizure
� Bleeding disorder, anticoagulation therapy
� Drug/alcohol use
� Focal signs

Afebrile seizure

� Aura
o Varying sensory phenomena
o May not be present for all seizures
� Ictal phase
o Typical seizure activity
o Sudden onset
o Generalised seizures always have loss of consciousness
� Post-ictal phase
o Confusion and impaired alertness
o Todd's paraly

Epilepsy

Seizure > 5 minutes, or repeated seizures without full recovery to normal consciousness

Status epilepticus

After head trauma, patient presents with any of the following:
� Headache
� LOC, amnesia
� Nausea, vomiting
� Dizziness and loss of balance
� Slow responses, tiredness
� Poor concentration, mood changes
� Confusion

Concussion

Red flags
� New LOC or drowsiness
� Frequent vomiting
� Persistent severe headache of dizziness
� Seizure
� Persistent confusion
� Difficult to wake
� Weakness of limbs
� Abnormal or unsteady walking
� Slurred speech
� Burred or double vision
� Bleeding o

Concussion

Classica Triad
� Headache
� Fever
� Neck stiffness
The classical symptom of encephalitis is acute change in mental status. Neonates and infants typically present with signs of sepsis rather than a classical meningitis picture.
High Index of Suspicion For:

Meningitis

Meningitis

Increasingly worsened headache, or signs of raised ICP

Hydrocephalus

Common Features
� Patients do not reach milestones (especially motor and speech)
� Intellectual disability (50%)
� Seizure disorder (35-50%)
� Joint contractures
� Attention deficit hyperactivity disorder
Spastic Type
� muscle tone in one or more limbs

Cerebral palsy

An 18-month-old child with a history of prematurity (28 weeks' gestation, 1200 grams) presents with failure to meet developmental milestones. The child sat independently at 1 year, has few words vocally, does not pull to stand, and exhibits increased deep

spastic diplegic CP.

A 2-year-old boy, born after a normal pregnancy and delivery, presents with an asymmetric gait. Examination reveals mild spasticity of the left upper and lower extremity, hyperactive left knee and ankle deep tendon reflexes, and decreased dorsiflexion of

hemiplegic CP.

The disease is most obvious on physical examination.
� Adams forward bend test shows thoracic rotation (rib hump) and lumbar rotation (lumbar hump).
� The scapula can be elevated
� The spine can be obviously curved
� The hips may look uneven, legs may be

Scoliosis

� Symptoms of spinal cord dysfunction
o Varying degrees of motor loss, possible flaccid paralysis
o Sensory deficits
o Bladder and bowel dysfunction
� Developmental delays, cognitive impairment, progressive neurological symptoms
� Skeletal malformations e

Spina bifida

< 6 Months
� Asymptomatic
� Barlow sign: palpable clunk caused by hip dislocation when hip is flexed and adducted while applying downward pressure
� Ortolani sign: palpable clunk caused by hip reduction when the hip is flexed and abducted while applying u

Developmental dysplasia of hip

Children present with itchy, hot, red skin plus 3 or more of the following:
� Atopy in a 1st degree relative or themselves
� Dry skin within past year
� Typical rash distribution: skin creases (elbows, knees, neck, front of ankles, around mouth/nose)
� Ty

Eczema

A 12-year-old female presents with dry, itchy skin that involves the flexures in front of her elbows, behind her knees and in front of her ankles. Her cheeks also have patches of dry, scaly skin. She has symptoms of hay fever and has recently been diagnos

Eczema

in neonate, small red macules and papules that progress to pustules with surrounding erythema. Up to half of all full-term babies get this rash.

erythema toxicum

Presentation
� "slapped cheek disease" - baby presents with red cheeks, and rash on limbs
� Fever AND a rash (concurrent): macular red rash

Erythema Infectiosum - Parvovirus B19

A 6-year-old child presents to the clinic in February with bright red macules on his cheeks and a lacy, reticular eruption on his extremities and torso. His mother reports that last week he did have symptoms of a mild cold. Other than the exanthem, the ch

Erythema infectiosum

� Viral prodrome: cough, coryza, conjunctivitis, Koplick spots (white spots in mouth)
� Fever AND a rash (concurrent): rash begins on face and works down to trunk and limbs. It clears in the same order (head to toe)

Measles

A 17-month-old previously healthy but unimmunised child develops fever, malaise, and upper respiratory symptoms, including cough, runny nose, and conjunctivitis, that worsen over several days. The fever increases gradually up to 39�C to 40�C (103�F to 104

Measles

� Viral prodrome: generalised and tender lymphadenopathy
� Fever AND a rash (concurrent): rash begins on face and works down to trunk and limbs. It clears in the same order (head to toe)

Rubella

A 35-year-old man presents with a 3-day history of low-grade fever, malaise, headache, and aching knees. That morning he developed a rash on his face, which has now spread to his chest and arms. His physical examination is notable for mild conjunctival in

Rubella

A 2820-gram female infant is born to a 22-year old primigravidas mother at approximately 38 weeks' gestation following an uncomplicated pregnancy. The baby has mild hepatosplenomegaly, numerous purplish, firm, non-blanching skin nodules, scattered petechi

Rubella

A previously healthy 9-month-old infant presents with a 4-day history of irritability and high fever in the range of 39�C to 40�C (102�F to 104�F), peaking in the early evening. On day 4 of illness his fever and irritability resolved, and he then develope

Roseola

� Viral prodrome: high spiking fever
� Fever THEN a rash (subsequent): rash begins on trunk and spreads to limbs and face

Roseola

� Rash WITHOUT fever: diffuse rash vesicles on an erythematous base and in different stages of healing (eruption, ulceration, crusting)

Chicken pox

A 6-year-old boy presents with fever, headache, and a diffuse, pruritic, vesicular rash, which is most prominent on the face and chest. He has had generalised malaise and low-grade fever for a few days prior to presentation. He developed high fever and a

Chicken pox

A 36-year-old man undergoing chemotherapy for non-Hodgkin's lymphoma presents with fever, shortness of breath, haemoptysis, and a diffuse rash. His family recalls that he had a fever the previous day, and that the rash started on his chest and progressed

Chicken pox

� Prodrome: painful, burning skin
� Vesicular rash that follows a dermatomal distribution that doesn't cross midline
� Over 60 or immunocompromised

Shingles

� Pubertal males with painful parotid swelling and orchitis

Mumps

A 20-year-old university student with no significant past medical history presents to her doctor with the complaint of painful bilateral swelling near her jaw and cheek. She describes an "earache" and says it is difficult to eat, swallow, and talk. She re

Mumps

� Varicella like rash, but only on hands, feet, and mouth

Hand-foot-mouth disease

A 5-year-old boy presents with a 3-day history of malaise and a mild fever. In the last 24 hours he has complained of a sore mouth and developed vesicles on his hands and feet. He has been well until this illness, and there are no other symptoms. All othe

Hand foot mouth disease

� Single or multiple lesions in healthy patients, widespread in immunosuppressed patients
� Non-tender, skin-coloured, pearly, dome-shaped papules with central umbilication
� Individual lesions may be painful or itchy
� Papules contain a caseous plug
� Ch

Molluscum contagiosum

A 5-year-old white boy presents with a history of 2 months of bumps in the left axilla. Initially there was just one lesion; now the parents note that the child has half a dozen lesions. Some of the areas have been inflamed, and the child has pruritus, wh

Molluscum contagiosum

A sexually active female university student presents complaining of itchy growths on the pubic area and the inner thighs, of 1 month's duration. The patient has been using a condom when she is sexually active with her boyfriend of 3 months. She is seen ev

Molluscum contagiosum

As a result of an accident in the kitchen, a 20-month-old toddler had boiling pasta and water spilled onto her head, face, and upper body. Physical examination reveals blistering sloughing skin with underlying wet, tender erythema.

Burns

Superficial
� Previously called erythema.
� Involve only the epidermis
� These burns are not included in estimating TBSA
� Characterised by redness that slowly disappears, no blistering present
Superficial Partial thickness
� Involve both the epidermis ex

Burns

History
� Severe ear pain, particularly at night
� Otorrhoea (ear discharge)
� Intense itching in the external auditory canal
� Sense of ear "fullness"
Examination
� Tragus is tender to touch
� Pulling up and back on the auricle causes pain
� Conductive h

Otitis externa

A 35-year-old man presents with a 2-day history of rapid-onset severe ear pain and fullness. The patient complains of otorrhoea and mild decreased hearing. He reports that his symptoms started after swimming. No fever is reported. On physical examination

Otitis externa

History of recent upper respiratory tract infection plus:
Infants
� Irritability
� Incessant crying
� Refusal to feed
� Repeatedly touching the affected ear
� Fever and febrile seizures
� Tender mastoid in late stages
Older Children
� Otalgia/earache, com

Otitis media

An 18-month-old toddler presents with 1 week of rhinorrhoea, cough, and congestion. Her parents report she is irritable, sleeping restlessly, and not eating well. Overnight she developed a fever. She attends day care and both parents smoke. On examination

Otitis media

� Pink/red eye
� Oedema of eyelid and/or conjunctiva
� Burning or foreign body sensation
� Photophobia
� Itching or irritation

Conjunctivitis

A 6-year-old girl with no significant past medical history presents 4 days after developing a red, irritated left eye. Her mother states that she has been wiping thick whitish-yellow discharge from her eye, and the eye is matted shut in the morning. She d

Conjunctivitis

A 14-year-old boy with no significant past medical history presents 3 days after developing a red, irritated right eye that spread to the left eye today. He has watery discharge from both eyes and they are stuck shut in the morning. He reports recent uppe

Conjunctivitis

� Leucocoria (white reflex instead of red - often noticed by parents in photographs)
� Squint
� Strabismus
� Ocular inflammation (painful, red eye)

Retinoblastoma

A mother takes her 3-year-old child to the paediatrician complaining that the child's right eye looks strange and appears different from the left eye. The paediatrician notes that the right pupil has a white haze and looks rather unusual. The paediatricia

Retinoblastoma

� Meconium ileus
� Failure to thrive due to malabsorption
� Pancreatic disease
o Pancreatitis
o Exocrine pancreatic insufficiency
� Foul-smelling steatorrhea
� Malabsorption
� Abdominal distention
� Diarrhoea
� Deficiency of fat-soluble vitamins (night bl

GIT CF

� Obstructive lung disease with bronchiectasis
� Chronic sinusitis, nasal polyps
� Recurrent or chronic productive cough and pulmonary infections with characteristic micro-organisms
o S aureus in infancy and childhood
o P aeruginosa in adults
� Expiratory

Respiratory CF

Sweat Glands
� Especially salty sweat � electrolyte wasting
Urogenital
� Urinary
o Nephrolithiasis, nephrocalcinosis
o Frequent urinary tract infections
� Genital
o Infertility
o Male: obstructive azoospermia, absence of vas deferens, undescended testicle

CF

A 1-year-old child presents with failure to thrive. By history, the child was born at the 50th percentile for weight but has crossed multiple percentile lines despite having a ravenous appetite. The child has more bowel movements per day than other childr

CF

History
� Bilious vomit
� Cognitive disability
� Language delay
� Gross motor delay
� Constipation
� Feeding difficulty
Examination
� Epicanthal folds
� Brushfield spots around iris
� Small mouth, large tongue
� Brachycephaly, flat facial profile
� Single

Down syndrome

A girl is born at term after a normal pregnancy and delivery. On examination she is noted to be hypotonic with hyper-extensible joints, small ears, and a small mouth. She has a protruding tongue, a broad neck, an upward slant to the eyes with epicanthal f

Down syndrome

History
� Infertility, impotence, and/or libido
� Primary or secondary amenorrhoea
Examination
� Delayed puberty (Males)
o Testicular hypoplasia < 4ml
o � Body hair growth
o High-pitched voice
o Smooth skin (no acne)
o � Lean body mass
� Delayed puberty (

Hypogonadism

A 15-year-old boy is concerned because he is much shorter than his peers and is being bullied at school. He is reluctant to go swimming with his friends as they are all much taller than him. His 13-year-old sister is also taller than him. On examination h

Hypogonadism

The parents of a 14-year-old girl present with concerns that she is short. On examination her height is well below the 0.4th centile and her weight is on the 25th centile. Her previous growth records indicate that her height at 2 years was on the 75th cen

Hypogonadism

� Primary hypogonadism: testicular hypoplasia, potentially normal penis, potentially normal testes with reduced output or volume
� Sterility: azoospermia or oligospermia
� Gynaecomastia
� Less muscle mass
� Less facial hair and body hair
� Tall, long legs

Klinefelter's syndrome

Anaphylaxis

A 14-year-old girl presents in severe respiratory distress to the emergency department. Her past medical history includes asthma and a peanut and tree nut allergy. Shortly after ingestion of a biscuit in the school cafeteria, she began complaining about f

Anaphylaxis

A response occur within minutes to hours, and if breathing is affected it is called anaphylaxis (see anaphylaxis document). There can also be a biphasic reaction, where symptoms temporarily improve and then relapse again within a few hours.
History
� Itch

Food allergy

An 18-month-old boy is brought by his mother to the paediatrician following an apparent adverse reaction to food. His mother relates that the boy developed a hoarse cry; hives on his face, neck, and trunk; lip swelling; and projectile vomiting 3 minutes a

Food allergy

A 2-year-old girl is taken to her paediatrician for evaluation of chronic dry skin with frequent episodes of inflammation at bilateral antecubital creases and posterior popliteal fossae. The paediatrician diagnoses atopic dermatitis and learns that the mo

Food allergy

. There are no histamine-related signs because there is no mast cell degranulation. Symptoms are milder, not life-threatening, and mostly limited to the digestive tract. Common complaints include diarrhoea, constipation, nausea/vomiting, bloating, abdomin

Food intolerance

Onset
� Sudden onset, often with DKA as first manifestation
Classical
� Polyphagia
o Lack of glucose in cells � catabolic state � weight loss and hunger
� Glycosuria
o Excess glucose in blood exceeds to reabsorption capacity of the kidney, meaning some gl

Type 1 diabetes

A 12-year-old white girl is brought to the emergency department by her parents due to 12 hours of rapidly worsening nausea, vomiting, abdominal pain, and lethargy. Over the last week she has felt excessively thirsty and has been urinating a lot. Physical

DKA

� Nausea
� Vomiting
� Fruit breath
� Mental status changes
� Cerebral oedema

DKA

A 20-year-old man is brought to the accident and emergency department with abdominal pain, nausea, and vomiting with increasing polyuria, polydipsia, and drowsiness since the previous day. He was diagnosed with type 1 diabetes 2 years previously. He menti

DKA

General Presentation
� Non-specific
� Irritability, lethargy, poor feeding
� Temperature change (fever or hypothermia)
� CVS: tachycardia, hypotension, poor perfusion, delayed capillary refill >3 sec
� Respiratory: tachypnoea, dyspnoea (e.g. expiratory gr

Neonatal sepsis

Neonatal septic shock

episodes while in the neonatal intensive care unit. He had been born at 30 weeks' gestation after spontaneous onset of preterm labour. He had required intubation and mechanical ventilation for 48 hours following birth for neonatal respiratory distress syn

Neonatal sepsis

A 6-year-old boy is noticed by his teacher to have a black eye. When asked how he sustained the injury, the child states that his stepfather punched him. He is referred to social services and brought to the paediatrician for further assessment. On examina

Abuse/neglect

A 5-month-old baby is brought to the accident and emergency department by ambulance. His mother states that he has not been feeding and has been irritable for the past 24 hours. She states that he vomited any food he was given and subsequently went "blue

Abuse/neglect

An 8-year-old girl presents to the emergency department with her aunt and mother. The patient lives with her mother, her mother's boyfriend, and her 18-month-old brother. The 8-year-old has recently become more defiant and emotionally labile, and her scho

Abuse/neglect

Dehydration