pediatrics obstructive sleep apnea syndrome in children

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Pediatrics PLABverse - [email protected] 1 Obstructive sleep apnea syndrome in children It’s mainly due to enlarged tonsils and adenoids Presentation Snoring - usually parents seek attention; many will just get better as they grow older Mouth breathing Witnessed apneic episodes episodes of cessation of breathing Daytime sleepiness and somnolence are less important in children Sleep-deprived children tend to become hyperactive, with reduced attention and be labelled as difficult or disruptive, or even ADHD. They may not be doing well at school due to poor concentration In adults increased daytime somnolence + DM and HTN Investigations Simple studies: pulse oximetry and overnight study of breathing patterns initial investigation Overnight in-laboratory polysomnography (PSG) the gold standard Epworth sleepiness scale a questionnaire to predict the likelihood the patient will fall asleep in certain conditions Treatment Conservative weight loss and reducing alcohol consumption Continuous positive airway pressure (CPAP) Rare cases require surgery to relieve pharyngeal obstruction (e.g. tonsillectomy, adenoidectomy or tracheostomy) Acute epiglottitis Caused by Hemophilus influenza type B Features Rapid onset Fever Stridor Drooling of saliva Difficulty speaking Muffling or changes in the voice X-ray thumb sign “indicating an edematous and enlarged epiglottis and it suggests acute infectious epiglottitis” Management - In acute attack summon an anesthetist intubation is required to avoid obstruction Croup Barking cough, stridor, HOV and fever Cause by Para-influenza virus X-ray steeple sign Managed by oral dexamethasone Emergency TTT high flow O2 + nebulized adrenaline

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Page 1: Pediatrics Obstructive sleep apnea syndrome in children

Pediatrics

PLABverse - [email protected] 1

Obstructive sleep apnea syndrome in children

➢ It’s mainly due to enlarged tonsils and adenoids

Presentation

• Snoring - usually parents seek attention; many will just get better as they grow older

• Mouth breathing

• Witnessed apneic episodes → episodes of cessation of breathing

• Daytime sleepiness and somnolence are less important in children

• Sleep-deprived children tend to become hyperactive, with reduced attention and be labelled as difficult or

disruptive, or even ADHD. They may not be doing well at school due to poor concentration

• In adults → increased daytime somnolence + DM and HTN

Investigations

• Simple studies: pulse oximetry and overnight study of breathing patterns → initial investigation

• Overnight in-laboratory polysomnography (PSG) → the gold standard

Epworth sleepiness scale → a questionnaire to predict the likelihood the patient will fall asleep in certain conditions

Treatment

• Conservative → weight loss and reducing alcohol consumption

• Continuous positive airway pressure (CPAP)

• Rare cases require surgery to relieve pharyngeal obstruction (e.g. tonsillectomy, adenoidectomy or

tracheostomy)

Acute epiglottitis

• Caused by Hemophilus influenza type B

Features

• Rapid onset

• Fever

• Stridor

• Drooling of saliva

• Difficulty speaking

• Muffling or changes in the voice

• X-ray → thumb sign “indicating an edematous and enlarged epiglottis and it suggests acute infectious

epiglottitis”

Management

- In acute attack → summon an anesthetist → intubation is required to avoid obstruction

Croup

• Barking cough, stridor, HOV and fever

• Cause by Para-influenza virus

• X-ray → steeple sign

• Managed by oral dexamethasone

• Emergency TTT → high flow O2 + nebulized adrenaline

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Childhood viral rashes

➢ Most children rashes present with similar flu-like symptoms such as a runny nose, cough, a high temperature

(38℃ or above), a sore throat, loss pf appetite and swollen neck glands

Roseola

• Sudden high temperature followed by non-itchy pink/red spots or patches after resolution of fever by 12-

24h on chest or legs and spreads to the rest of the body + Nagayama soft palate spots

• The most common rash of its kind under 2 years old

Parvovirus B19 • Bright red rash on both cheeks (slapped cheek syndrome) which may spread to the rest of the body

• Also called → Erythema infectiosum

• The rash can be itchy, especially on the soles of the feet

Measles

• Red-brown blotchy maculopapular rash on the head or neck (starts

behind the ear) and spreads to the rest of the body

• Tiny grey-white spots in the mouth (Koplik spots – not always but

diagnostic sign if occurs)

• Unwell child, usually fever >40℃

Hard K sound

- Koplik spots (before rash), white spot “grain of salts” on buccal mucosa

- Cough

- Conjunctivitis

- Coryza, inflammation of URT

Rubella

• Red/pink spotty rash which starts behind the ears and spreads to

the rest of the body

• Swollen LN

• Spots on the soft palate (Forchheimer spots)

• Very unlikely if had both doses of MMR vaccine

Hand, foot and mouth disease (HFMD) • Commonly caused by Coxsackievirus A16 (CA16) and enterovirus 71 (EV71), very contagious among children

• Painful ulcers on the tongue or buccal mucosa and grey blisters in hands and feet

Management for all - Paracetamol or ibuprofen

- Ensure adequate dehydration

- Fever and rashes will usually subside within a week

When to worry → Meningitis

• Non-blanching red pinpricks rashes which quickly spread turning into red or purple blotches

• Stiff neck, photosensitivity and uncontrollable fever

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Chickenpox

• Caused by VZV

• If the rash appears within a week of delivery or within 2 days after delivery, there’s a risk of neonatal

chickenpox. There’s transplacental transmission of virus but not antibody, as there is no time for IgG to

develop and the baby is at 30% risk of death from severe pneumonia or fulminant hepatitis → managed by

VZIG and Acyclovir

• If the mother’s onset of rash is >7 days before delivery or >7 days post-delivery → varicella zoster

immunoglobulin (VZIG) and isolation is not necessary for the neonate; just observation

Scarlet fever

Key points

• Commonest age → 2-8 years

• Caused by → group A streptococcus pyogenes

• Diagnosis is clinical

• Presents with sore throat, fever (usually >38.3℃) and a rash

• Rash → starts at torso 12-48h after fever and spreads to extremities, has a coarse texture like sandpaper

• Other features

- Strawberry tongue

- Cervical lymphadenopathy

- Tonsils covered with pal exudates with red macules on palate (Forchheimer spots)

• Treatment is with penicillin V for 10 days

Scarlet fever is the game os “S”

- Strept pyogenes

- Sore throat

- Strawberry tongue, tonsils could be coated with white exudates

- Sandpaper rash

- Spot le Forchheimer

- Servical lymphadenopathy

Kawasaki disease [RED + adenopathy]

➢ A febrile systemic vasculitis primarily affects children <5 years

➢ Coronary aneurysm is a potentially devastating complication

➢ Often misdiagnosed as a viral rash (exanthem) and sent home

Diagnosis [CRASH BURN]

• Fever >39℃ for more than 5 days + at least 4 of the following:

- Conjunctivitis

- Polymorphous rash

- Extremity changes: Erythema of palms and soles that later leads to desquamation

- Mucous membrane changes: Red, fissured lips, strawberry tongue

- Cervical lymphadenopathy

Management

• High dose aspirin → reduces risk of thrombosis

- Once fever subsides and inflammatory markers fall, low dose aspirin is given until ECHO is performed at

6 weeks to exclude aneurysm

• IVIG → if given within first 10 days, reduces the risk of coronary artery aneurysm

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Pyloric stenosis

Presentation

• Age: 3-8 weeks

• Projectile non-bilious vomiting

• Constipation is common due to reduced fluid intake

• Late signs: dehydration, malnutrition and jaundice

• Olive-sized abdominal mass (epigastric mass), may present at the right

side

• Visible peristalsis in the upper abdomen from left to right

• The child will feel hungry despite constant vomiting

Diagnosis

• Initial step/urgent investigation → serum K+, hypokalemia due to vomiting,

needs to be corrected immediately

• To diagnose → Abdominal US → hypertrophic pyloric muscle + target sign

Treatment

• Initially, correct dehydration and electrolyte imbalance (metabolic alkalosis) → IV fluid

• Then refer to a pediatric surgeon → Pyloromyotomy + NG tube

Gastro-esophageal reflux disease (GERD)

Presentation

• Age group: < 1 year, if it persists after 1 year old → hiatus hernia is possible

• Excessive and frequent episodes of regurgitation/vomiting after feeds

• Difficult to feed

• Failure to thrive

• Irritable and crying

Diagnosis

Investigations are not usually necessary unless severe. If warranted, they include

• Upper GI study with contrast – 1st line

• Upper GI endoscopy with biopsy

Treatment

• If breast-feeding → Breastfeeding assessment

• If formula-fed → take feeding history → increase feeding frequency and reduce amount per feed → use

thickened formula

• If no improvement → offer proton pump inhibitors (PPIs) or H2 receptor antagonists (H2RAs) and consider

enteral feeding

Duodenal atresia

- Presents at the 1st day of life

- Bilious vomiting WITHOUT abdominal distension

- Associated with Down’s $ and polyhydramnios

- X-ray and US → double bubble sign

Jejunal and ileal atresia

- Presents at the 1st day of life

- Bilious vomiting WITH abdominal distension

- X-ray → triple bubble appearance

Vomiting

• Pyloric stenosis → non-bilious, weeks after birth

• Duodenal atresia → bilious, hours after birth

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Malrotation and volvulus

Presentation

• Green, bilious vomiting

• Blood per rectum (painful)

• Sudden onset

• Age: neonates

Diagnosis

• Abdominal x-ray

- Coffee bean shape (Omega sign)

• Barium enema

Treatment

• ABCDE protocol

• Decompression with nasogastric tube

• Referral to pediatric surgery for laparotomy and

resection

Coffee bean shape → Malrotation and Volvulus

Double bubble sign → Duodenal atresia and midgut volvulus

Currant jelly stool + >6 months old → Intussusception

Meconium ileus → Cystic fibrosis

Meckel’s diverticulum

Presentation

• Mostly asymptomatic

• Age group: 2-3 years old; mostly male

• Painless rectal bleeding

• If obstruction → vomiting, abdominal pain

Diagnosis

• Radioisotope scan → initial

• Laparotomy

Treatment

➢ Surgical resection

Intussusception

Presentation

• TRIAD of: Abdominal pain, Currant jelly blood in stool, Sausage-shaped mass on palpation (often in RUQ)

• Child is crying persistently

• Drawing up of legs

• May be vomiting if severe

Diagnosis

• Abdominal US → may show doughnut or target sign

• Bowel enema → claw sign

Treatment

➢ Air enema reduction or laparotomy

[Jelly, Sausage, Doughnut]

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Necrotizing enterocolitis (NEC)

➢ Necrosis of intestinal mucosa (primarily colon) with possible perforation which can lead to pneumatosis

intestinalis, free air in the abdomen and portal venous gas

Presentation

• Premature > term infant

• Vomiting (feeding intolerance), decreased activity, varying temperature

• Abdominal distension, bloody stools

• Abdominal plain film → Air in the bowel wall

Diagnosis

• Bell’s criteria/staging system

• Abdominal x-ray (supine antero-posterior; lateral decubitus) → initial

• Blood work - include blood film, culture, coagulation, blood gas

Treatment

• Initial → stop feeds → NG tube free drainage with aspiration → antibiotics → fluids and electrolyte balance

• Antibiotics → penicillin + gentamicin + metronidazole

• If pneumoperitoneum (abnormal presence of air in the abdominal cavity)→ surgery

Biliary atresia

➢ It’s extremely important to diagnose it early as without intervention, chronic liver failure will develop which

usually leads to death before age 2 years

Presentation

• Jaundice + pale stools + dark urine

• Hepatomegaly → becomes palpable at 3-4 weeks after

biliary atresia

• Splenomegaly is not usually a feature unless presentation

is late

• Failure to thrive as a result of poor absorption

Diagnosis

• ↑ Conjugated bilirubin and abnormal liver function test

- CB >50% of total bilirubin

- GGT is usually high

• Abdominal US

• Cholangiogram

• Liver histology (obtained by percutaneous biopsy) → definitive diagnosis

Treatment

• Kasai procedure = Hepatopotoenterostomy - High successful rate if presented early (<100 days)

- Small intestine is connected to the liver to drain the bile

• Liver transplant in late cases

Conjugated bilirubin

- Water soluble → passes in urine → Dark urine (in obstructive jaundice)

Unconjugated bilirubin

- Does NOT pass in urine → Pale urine

- Pass in stool → Yellow stool

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Lymphangioma

• Uncommon, hamartomatous, congenital malformations of the lymphatic system that involve the skin and

subcutaneous tissues

• It occurs as a result of sequestration or obstruction of developing lymph vessels in approximately 1 in 12,000

births

• Lymphangiomas can occur anywhere in the skin and the mucous membranes

• The most common sites → head and neck especially the posterior triangle of the neck

• The cysts are lined by endothelium and filled with lymph

• Occasionally unilocular cysts occur, but more often there are multiple cysts infiltrating the surrounding

structures and distorting the local anatomy

• The mass may be apparent at birth or may appear and enlarge rapidly in the early weeks or months of life as

lymph accumulates; most present by age 2 years. (90% of lymphangioma occur in children less than 2 years)

• Lymphangiomas are soft and nontender and when subjected to light test was brilliantly translucent

• They’re often partially compressible, a feature of lymphatic swellings

Brachial cyst

- Lateral neck mass that are NOT compressible, NOT/MAYBE translucent under light test and LESS common

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Neonatal jaundice

➢ <24h → pathological

- Neonatal jaundice within the first 24h of life should be taken seriously, it would require urgent

assessment within 2h according to NICE

- Investigations: bilirubin level, LFTs, FBC, blood film, blood group, Coomb’s test, G6PD levels and review

for sepsis

➢ >24h → physiological

➢ >2 weeks → pathological

Physiological jaundice

• Results from increased erythrocyte breakdown and immature liver function

• Presents at 2-3 days old, begin to disappear towards the end of the first week

• Bilirubin level doesn’t usually rise above 200 μmol/L and baby remains well

Early neonatal jaundice (onset <24h)

• Hemolytic disease (e.g. RH incompatibility, ABO incompatibility, G6PD

deficiency and spherocytosis)

• Congenital infections such as toxoplasmosis, rubella, CMV, herpes

simplex, syphilis or postnatal infections that develop into sepsis

• Crigler-Najjar $ or Dubin-Johnson $

• Gilbert’s $

Prolonged jaundice (lasting >14 days in term infants, >21 days in preterm)

• Congenital hypothyroidism → usually defined on routine neonatal biochemical screening (Guthrie test)

- Hypothyroidism impairs bilirubin conjugation, slows gut motility and impairs feeding leading to

hyperbilirubinemia

• Hypopitruitism

• Glactosemia

- Jaundice + vomiting + diarrhea + FTT + hepatomegaly + neurological symptoms

- No signs of obstructive jaundice

- ↑ unconjugated bilirubin (doesn’t pass in urine) → pale urine + yellow stool

• Breast milk jaundice

- Usually the baby is well

- Most common cause of prolonged unconjugated hyperbilirubinemia

- Jaundice resolves by six weeks, can continue for up to 4 months → Breastfeeding continues

• Gastrointistinal

- Biliary atresia → the most important diagnosis not to miss

- Neonatal hepatitis

Split bilirubin blood test

• ↑ Conjugated bilirubin → obstructive jaundice (biliary atresia)

• ↑ Unconjugated bilirubin → galactosemia, breast milk jaundice, congenital hypothyroidism, hemolysis

• Raised both → hepatitis

The most common pathological causes

of neonatal jaundice within 24h are:

• RH incompatibility

• ABO incompatibility

• G6PD deficiency

• Sepsis

• Breastfeeding jaundice: resulted from insufficient milk intake

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Vesicoureteral reflux (VUR)

➢ Condition where urine flows retrograde from bladder into ureters/kidneys

Presentation

• Most children are asymptomatic

• Increases risk of urinary tract infection → Thus, symptoms of a UTI: Fever, Dysuria, Frequent urination, Lower

abdominal pain

Diagnosis

• Urinalysis, urine culture and sensitivity → initial investigation

• Renal ultrasound → initial investigation → might suggest the presence of VUR if ureteral dilatation is present

• Micturating cystourethrogram (MCUG)→ gold standard

• Technetium scan (DMSA) → for parenchymal damage (seen as cortical scars)

Treatment

• VUR grade I-IV → start with low dose antibiotics prophylaxis daily (i.e. trimethoprim or nitrofurantoin),

should be given prior to considering surgery

• Consider surgical reimplantation of the ureters

- Failed medical treatment

- Parenchymal damage

- Persistent renal reflux (grade IV/V)

- Breakthrough infection

- The International Reflux Study has found that children can be managed non-surgically with little risk of new or

increased renal scarring, provided they are maintained infection free

- Remember, the goal of treatment is to minimize infections, as it is infections that cause renal scarring and not the

vesicoureteral reflux. Thus, the importance of continuous antibiotic prophylaxis outweighs surgery in most cases

- Note that during early childhood, the kidneys are at higher risk of developing new scars. So, it is particularly

important to start parenteral antibiotic treatment for patients with vesicoureteral reflux before febrile

breakthrough infections

- For patients with frequent breakthrough infections, definitive surgical or endoscopic correction is preferred

- Surgical correction should also be considered in patients with persistent high-grade reflux (grades IV/V) or

abnormal renal parenchyma

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Pediatric urology scans [remember number 6]

If younger than 6 months:

• US during acute infection → if does NOT respond well to antibiotics within 48h

• US within 6 weeks → if responds well to antibiotics

• MCUG → if did NOT respond well to antibiotics during acute infection

• DMSA scan 4-6 months → if did NOT respond well to antibiotics during acute infection

US → good at determining anatomy, renal size, presence of most congenital anomalies

MCUG

- Gold standard for detecting vesicoureteral reflux

- Requires catheterization

- Radiation exposure

DMSA

- Gold standard for detecting renal scarring or damage to renal parenchyma

- Intravenous radioactive isotope is used

- Shouldn’t be done at time of infection as may get false results → 4-6 moths after infection

Types of UTIs

Straightforward UTI

• Responds well to treatment within

48h

Atypical UTI (any of the following)

• Failure to respond to treatment

within 48h

• Septicemia

• Raised creatinine

• Infection with non-E. coli species

Recurrent UTI (any of the following)

• ≥2 episodes + acute pyelonephritis

• ≥3 episodes + cystitis/lower UTI

Golden rules

- Below 6 months → US within 6 weeks if straightforward UTI → MCUG if US is abnormal

- Above 6 months → do NOT use US if straightforward UTI

- If atypical, ALWAYS use US during acute infection no matter the age

- Always perform DMSA after 4-6 months of any atypical or recurrent infection

- DMSA during an acute infection is always the wrong answer

- MCUG after 3 years old is always the wrong answer

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Febrile seizures

➢ Epileptic seizures + fever in the absence of an intracranial infection

Key points

• Usually between 6 months – 6 years with peak at 14-18 months

• Usually with a positive family history, 10% risk of developing febrile seizures if there a first degree relative

who has suffered from it

• Fever >39℃

• Typical generalized tonic-clonic seizure is seen

• Must determine the cause of fever and rule out meningitis → Blood and urine test → initial investigation

• Consider lumbar puncture only if meningitis is highly suspicious

Types

• Simple febrile seizures

- The most common type

- Characterized by a single generalized seizure lasting <15 minutes

• Complex febrile seizures

- Focal, prolonged or recurrent

Treatment

• Antipyretics (e.g. Paracetamol)

• Seizures lasting >5 minutes or frequent → managed with benzodiazepines (buccal midazolam)

- About 1 in 3 would have further episodes of febrile seizures (30-40% chance) before the age of 6 - About 1 in 3 who have further episodes would develop epilepsy (this means roughly about 10% of complex febrile

seizures would develop epilepsy)

Breath-holding spells (blue spells)

• Occur in young children due to stress

• They stop breathing for some time, may turn blue or have little jerks of the limbs

• After a period of time, they spontaneously start breathing, they become completely fine after an hour

• Management → Reassurance, put the child in a recovery position and check ferritin and treat iron deficiency

When a toddler cries after a minor injury, stops breathing and loses consciousness for a few seconds followed by

rapid recovery, you should be thinking of two conditions:

1. Blue breath holding spells

2. Reflex anoxic seizures also known as reflex asystolic syncope or white breath holding attacks

Reflex anoxic seizures don’t cause tongue biting

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Cystic fibrosis

➢ Autosomal recessive disorder which induces salt and chloride excretion into airways leading to increased

viscosity of secretions

Causative organisms

• In childhood and early teenage years

- Staph aureus → most common

- Hemophilus influenza

• In teens and adults

- Pseudomonas aeruginosa → most common

Clinical presentation

• Recurrent chest infections (Cough and chronic sputum production)

• Malabsorption, Leading to:

- Frequent, bulky, greasy stools (Steatorrhea)

- Failure to thrive

• Pancreas → increased incidence of DM

• Delayed sexual development

• Male infertility, female subfertility

• Salty taste of skin

• Short stature

• Meconium ileus (in neonatal period)

Diagnosis

• Primarily made during newborn screening (Guthrie test)

- All newborn infants in the UK are screened for cystic fibrosis using the heel-prick tests

- If positive → molecular genetic testing for CFTR gene and sweat test would follow

• If not picked up by the newborn screening and later on develops clinical manifestations of cystic fibrosis →

perform sweat test or genetic testing for CFTR gene Management

• Often require an MDT approach

• Chest physiotherapy

- Techniques such as postural drainage is used to aid drainage

- Other techniques include chest percussion and positive expiratory-pressure device to aid dislodgement

and expectoration of the sputum

• Antibiotics → only in an acute exacerbation of the disease or as prophylaxis in childhood

- In children with cystic fibrosis, Prophylactic Floxacillin is prescribed up to 3-6 years of age

- If a mild exacerbation is present, antibiotics can be prescribed for 2 weeks

• Bronchodilators (beta-2 agonists)

• Diet

- High calorie

- High fat

- Pancreatic enzyme supplements

- Vitamins

Chest + GIT → Cystic fibrosis

Chest + Liver → Alpha-1 antitrypsin deficiency

Chest + Kidney → Goodpasture $

Kidney + Brain → Polycystic kidney

Liver + Brain → Wilson’s

• Sweat test is 98% sensitive

• Diagnosis of CF: - Cl concentration >60 mmol/L - Na concentration <Cl in 2 separate occasions

• Prenatal US → echogenic bowel

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Wilson’s disease

➢ A genetic disorder characterized by excess copper storage in tissue

Presentation

• Kayser-Fleischer rings

• Liver dysfunction → deranged liver function tests, cirrhosis

• Neurological → ataxia, dysarthria, dystonia

• Behavioral → personality changes, decreased school performance

Investigation

• Serum ceruloplasmin is low (less than 0.1g/L) → initial test

• Deranged LFTs

• Measurement of hepatic parenchymal copper concentration

Treatment

• Lifelong penicillamine

• In acute liver failure or cirrhosis → liver transplant

Wolff-Parkinson-White syndrome (WPW)

➢ An extra electrical pathway between your atria and ventricles causes a rapid heartbeat

Presentation

• Child may be exercising with sudden onset of pallor, difficulty breathing and palpitation followed by

spontaneous recovery

• Otherwise asymptomatic child

• ECG → Delta waves, pre-excitation pattern, prolonged QRS, shortened PR

• Very dangerous drugs in WPW

- Verapamil (very)

- Digoxin (dangerous)

- Diltiazem (drugs)

Diagnosis

• ECG

• 24h Holter monitor

Treatment

• Catheter ablation → 1st line

• Medications → flecainide and propafenone

Tourette’s syndrome

Presentation

• Young (6-8 years old) mostly male

• Repetitive movements or gestures that are disruptive in the classroom or to people around the child (can be

motor or vocal) → Tics

• Jerks, blinks, sniffs, nods, spitting, stuttering, irrepressible explosive obscene verbal ejaculations, grunts,

and squeaks

Treatment

• Risperidone or haloperidol

• Behavioral therapy - Habit-reversal training

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DiGeorge $

• Deletion of chromosome 22.q11

• It causes absent thymus + fits + small parathyroid (decreased Ca) + anemia + lymphopenia + low level of GH +

low T-cell immunity

• The absent thymus shadow is pathognomonic

• Related to Velocardiofacial $ → characteristic face, multiple

anomalies (e.g. cleft palate, heart defects, cognitive

defects)

• Developmental delay, facial dysmorphism, palatal

dysfunction and feeding difficulties are seen in most infants

with this syndrome

CATCH-22

C → Cardiac abnormalities (interrupted aortic arch, truncus

arteriosus, TOF)

A → Abnormal facies

T → Thymic aplasia

C → Cleft palate

H → Hypocalcemia/Hypoparathyroidism

22 → deletion of chromosome 22.q11

Marfan’s syndrome

Features

• Tall and thin

• Long arms, legs, fingers and toes

• Arachnodactyly (long spidery fingers)

• Flexible joints

• Scoliosis

• Cardiovascular → Aortic dilatation or dissection, aortic regurgitation, mitral

valve prolapse (MVP), mitral regurgitation, abdominal aneurysm

• Lungs → pleural rupture causing spontaneous pneumothorax

• Eyes → lens dislocation, high myopia

Ehlers-Danlos syndrome

• Hyperextensible skin + joint hypermobility + tendency to bleed easily

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Prader Willi syndrome

➢ Chromosomal abnormality in chromosome 15 on the paternal side

Presentation

• Male with blonde hair, blue eyes

• Behavioral problems

• If uncontrolled feeding + obesity, the boy usually <6 years old

• Developmental delay

• As a neonate: hypotonia (floppy), sleepiness

Diagnosis

• Chromosomal analysis: abnormality of paternal chromosome 15

• Mostly clinical diagnosis

Treatment

• Referral to pediatric psychiatry for behavioral problems and developmental delay

Bs -15

Boy

Blue eyes

Behavioral polyphagia

BMI → obese

Tricyclic antidepressants overdose in pediatrics

Presentation

• Child ingesting an unknown bottle of medication

• Lethargy, drowsy

• +/- Coma or seizure

• ECG → widened QRS, peaked T waves (indication of hyperkalemia)

Diagnosis

• U&E

• Toxicology scan

• ECG

• ABG

Treatment

• ABCDE protocol

• If within 1h of ingestion and >4 mg/kg → Activated charcoal

• Sodium bicarbonate

• Correct electrolytes if necessary

• In adults, signs of hypertension turning into hypotension and ventricular dysrhythmias along with signs of hyperkalemia (widened QRS)

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Enuresis

Primary enuresis

• Child aged 5 years or older who constantly wets the bed at night

• Daytime symptoms → urgency, frequency or daytime wetting

Management

Secondary enuresis

• Child of ANY age who has previously been dry at least 6 months and now wetting the bed consistently at

night

• With/without daytime symptoms

• Most common cause → emotional upset (one of the possible causes of emotional upset could be child

abuse)

• Other causes → UTIs, constipation or polyurea due to DM

• Investigations → blood culture for UTIs, if no treatable UTIs → refer to a pediatrician

Methods to obtain a urine sample

1. Clean catch sample (midstream)

2. Catheter or suprapubic aspiration

Without daytime symptoms With daytime symptoms

• <5 years → Reassure

• >5 years

- If bedwetting is infrequent (<2 times a week)

→ reassure

- If long-term treatment required → enuresis

alarm (1st line) + reward system

- If short-term control required (e.g. sleepovers)

→ Desmopressin

- If treatment has not responded to at least two

complete courses of treatment with either an

alarm or desmopressin → refer to secondary

care

• Refer all children above 24 months to secondary

care on an enuresis clinic

Daytime symptoms below 2 years is normal

• Enuresis is normal up to the age of 5 years

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Cow milk allergy

• IgE-mediated reactions → reaction is acute (nausea, vomiting, colicky pain) → a skin prick test or a blood

test for diagnosis

• Non-IgE-mediated reactions → delayed reaction (reflux, loose stools, not gaining weight) → exclude cow

milk from the diet and use a hypoallergenic formula such as extensively hydrolyzed formula and see if

there’s improvement

- Improvement is expected within 2 weeks

- If symptoms persist → swap to amino acid formula

Hypothyroidism in children

Presentation

• Difficulty feeding, little crying

• Not very responsive

• Hypotonia

• Dry mottled cold skin

• Prolonged neonatal jaundice

• On examination → enlarged posterior fontanelles (due to osseous immaturity)

• Other adult features of hypothyroidism

Diagnosis

• Neonatal screening for TSH and T4 serum/plasma → initial

• Radioisotope scan → definitive

• US neck

Treatment

• Levothyroxine oral until 2 years of age, after 2yrs, check TFTs and treat accordingly

Bronchiolitis

➢ An acute infectious disease of the lower respiratory tract that occurs primarily in the very young, most

commonly infants under the age of 2 years

➢ Respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases

Features

• Breathing difficulties

• Cough

• Coryzal symptoms (including mild fever)

• Decreased feeding

• Apneas in the very young

• Wheeze or fine inspiratory crackles on auscultation

• Tachypnea or chest recession

Management

• Largely supportive involving humidified oxygen

• DO NOT use any other drugs

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Non-accidental injury (NAI)

Presentation

• Delayed time to medical presentation

• Usually brought by step-father or boyfriend

• Bruising

- Accidental → foreheads and chins for toddlers, knees and chins for children

- NAI → varying degrees and color variations of bruises or bruising at unusual sites, ankles are the most

common site of NAI in infants

• Fractures (old and new)

- Consider NAI with rib and spinal fractures

- Also fractures in infants that are independently mobile or long bone fractures in children less than 3

years old

Management

1. Admit to ward to manage pain and perform skeletal survey

2. Involve the safeguarding children team, as a junior doctor, you should inform the team first

3. Refer to social services

4. Treat any other underlying medical conditions

Don’t think of NAI but consider the other pathological disease that could result in:

• Bruising

- Henoch-Schoenlein purpura

- Hemophilia

- ITP

- Leukemia

• Fractures

- Osteogenesis imperfecta: would have other features such as blue sclera, dental abnormalities and brittle

bones (the type commonly involved with an explained fracture is type 1 which is autosomal dominant so

look for a family history too)

- Managed by IV bisphosphonates (pamidronate)

[OSTE]

Osteo → Bone fracture, Sclera blue, Teeth imperfections, Ears → hearing troubles

Head injuries

Presentation

• Child playing or in an athletic match

• Head/facial trauma

• Swelling, bruising on the face only

Diagnosis

• Facial X-ray → Initially, if fractures detected → CT head

• CT head → Definitive, if on arrival scan within 1h:

- The child has GCS< 14 or suffering from any neurological deficits

- Fall from height >3m

- Vomiting >3 times following trauma

Treatment

• Observation

• Analgesia for pain

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Sudden infant death syndrome (SIDS)

➢ Sudden death of a child under the age of one year during sleep with no apparent cause

➢ Diagnosed by exclusion of other possible causes

Prevention

• Avoid smoking near infants

• Put them to sleep on their backs (not their front or side)

• Avoid overheating by heavily wrapping infants

• Blankets should not be higher than their shoulders

• Infants should be placed with their feet at the foot of the cot

• Avoid bringing baby into the bed after consuming alcohol or sedatives

• Avoid sleeping with infant on sofa

• Avoid using pillow

• Use sheets and blankets rather than a duvet

Congenital adrenal hyperplasia

• Autosomal recessive disorder

• Comes in three forms: 21-hydroxylase, 11-hydroxylase or 3-beta hydroxysteroid dehydrogenase deficiency

• Female with classic form → ambiguous genitalia

• Males with classic form → hyperpigmentation, penile enlargement, aldosterone deficiency

• Males with salt-losing form: typically present at 7-14 days of life with vomiting, weight loss, lethargy,

dehydration, hyponatremia and hyperkalemia

21-hydroxylase deficiency

- The most common and is characterized by cortisol deficiency (with or without aldosterone deficiency) and

androgen excess

11-beta-hydroxylase deficiency

- The second most common and is characterized by aldosterone deficiency which causes salt-wasting in early

infancy and excess hypertension in childhood and adult life

Infant respiratory distress syndrome (IRDS)

➢ Caused by inadequate production of surfactant in the lungs, usually seen in premature infants

➢ It affects proximately one half of infants born at 28-32 weeks of gestation. rare after 32 weeks

Risk factors

• Premature delivery

• Infants delivered via cesarean section without maternal labour

• Maternal diabetes

Presentation

Respiratory distress very soon after birth:

- Tachypnea

- Expiratory grunting

- Subcostal and intercostal retractions

- Diminished breath sounds

- Cyanosis

- Nasal flaring

Investigation → Chest x-ray → Diffuse ground glass appearance

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Developmental milestones

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This figure is intersected at 4 different levels of the body which represent different time frames

• 3 months → Neck – Holds neck

• 6 moths → Body – Roles both direction

• 9 months → Knees – Crawling

• 12 months → Feet – Walks

For fine motor skills, remember this pattern:

• At 2 years → Draws a line + stacks 4 objects, 4 words

• At 3 years → Draws a circle + 8 objects

• At 4 years → Draws a cross and square + 12 objects

• At 5 years → Draws a triangle

• At 6 years → Draws a diamond

Below are certain negative indicators (things a child cannot do) by a certain age that you should recognize and refer

to a specialist community pediatric assessment:

• Unable to sit unsupported at 12 months

• Unable to walk by 18 months

• No meaningful speech at 18 months (at 15 months onwards, if unable to speak monosyllabic words and

difficulty understanding speech → consider arranging hearing test)

• Unable to formulate 2-3-word sentences by 30 months

• Unable to run by 2.5 years

• No smile at 8 weeks

• No eye contact at 5 months

• Unable to hold objects placed in hand by 5 months

• Unable to reach for objects by 6 months

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Weight for age

• Infants <12 months → Weight (kg) = (age in months + 9) / 2

• Children 1-5 years → Weight (kg) = 2 x (age in years + 5)

• Children 5-14 years → Weight (kg) = 4 x age in years

- Normal birth weight ranges between 2.5-4.5kg

- It’s usual for babies to lose between 5% and 10% of their birth weight a few days after the birth

- Very often mothers receive IV fluid to prevent dehydration, this can contribute to a slightly higher birth weight for

the neonate, fluids are lost over next hours-days which results in reduction of weight

- Following these few days of weight loss, there would be gradual weight gain

- By day 14, most babies would be above their birth weight

Dehydration in children step by step management

1. Estimate dehydration

- Mild → decreased urine output

- 5% dehydration → decreased urine output + dry mucous membranes

- 10% dehydration → decreased urine output + dry mucous membranes + sunken fontanelle

- >10% → decreased urine output + dry mucous membranes + sunken fontanelle + symptoms of shock

2. Calculate the preexisting deficit

- Amount of fluid to give in mL = % dehydration x weight (kg) x 10

3. Give maintenance plus ongoing losses for the first 24h

- For the first 10kg → 100 ml/kg

- For the next 10kg → 50 ml/kg

- For any weight after 20kg → 20 ml/kg

Red traffic (high risk) features

• Pale/mottled/ashen/blue skin

• NO response to social cues

• Appears “ill” in a healthcare professional

• Doesn’t wake, or if awaken (roused) → doesn’t stay awake

• Weak/high pitched/continuous cry

• Grunting (not flaring, flaring → yellow traffic-intermediate risk)

• Respiratory rate >60

• Moderate or severe chest indrawing (inward movement of the lower chest)

• Reduced skin turgor

• Prolonged capillary refill time >4 seconds

• Age <3 months + Fever ≥38

• Non-blanching rash

• Bulging fontanelle

• Neck stiffness

• Status epilepticus

• Focal seizure

• Focal neurological signs

• 0.9% normal saline + 5% dextrose is usually used

as maintenance in children (excluding neonates)

• Initial bolus → 0.9% normal saline

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Constitutional delay in growth and puberty

➢ A temporary delay in the skeletal growth and thus height of a child with no physical abnormalities causing

the delay but the growth eventually resumes and the child would reach hist potential growth

➢ There’s usually a family history of similar growth pattern with delayed growth and delayed puberty with

normal height eventually

Investigations

• Determine bone age using X-ray of the left hand and wrist → to measure the gap between bones, as once

the gap between bones fuse there’s no more growth

Management

• Most cases DO NOT require treatment

• If delayed physical development or requested by the patient → a short course of sex steroids for 3-6 months

APGAR score ➢ A scoring system used to evaluate a newborn baby

➢ Done twice at 1 and 5 minutes after birth, maybe repeated at 10 minutes if scores remain low

➢ The 1-minute score determines how well the baby tolerated the birthing process. The 5-minute score tells the

health care provider how well the baby is doing outside the mother's womb

➢ Score 7-10 is normal

APGAR Sign 0 1 2

Appearance

(skin color)

Bluish-gray or pale all

over

Normal color (pink

body but bluish

extremities)

Normal color all over

(hands and feet are

pink)

Pulse

(heart rate)

Absent

(no pulse)

<100 beats per

minute

>100 beats per

minute

Grimace

("reflex irritability")

Absent (no response

to stimulation)

Facial movement only

(grimace) with

aggressive stimulation

Pulls away, sneezes,

coughs, or cries with

stimulation

Activity

(muscle tone)

No movement,

"floppy" tone

Some limb flexion

with little movement,

grasping for air

irregularly

Active, spontaneous

movement, flexed

arms and legs that

resist extension

Respiration

(breathing rate and

effort)

Absent (no breathing) Slow or irregular

breathing, weak cry

Normal rate and

effort, good cry

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Notes

• Strawberry tongue + Forchheimer spots → Scarlet fever

• Typical slapped cheek appearance → Provirus B19

• Sudden high fever + soft palate Nagayama spots → Roseola infantum

• Buccal (Koplik spots) → Measles

• Soft palate spots + swollen LN → Rubella

• Rash of palms and soles:

- Kawasaki disease

- Hand and foot disease

- 2ry syphilis

• Currant jelly blood in stool → Intussusception

• Currant jelly sputum → Klebsiella

• Strawberry tongue → Scarlet fever

• Strawberry vagina → Trichomonas vaginalis

• Group A Strept → Airway and skin infections

• Group A Strept pneumonia → Pneumonia

• Group A Strept pyogens → Scarlet fever

• Group B Strept (Strept aglactiae) → part of the normal flora of the gut and vagina → early-onset neonatal

infections [Group B–Birth canal]. Other organisms, E.coli and Listeria [GEL]

• Most common cause of gastroenteritis in children → Rotavirus

• Motor and verbal tics → Tourette $

• Impairment of social and behavioral skills → Asperger $

• Normal development for 2-3 years, followed by a loss of acquired motor, language and social skills between

3-4 years → Rett’s $

• Best way to deliver fluids in pediatrics with compromised peripheral venous access → Intraosseous access

• Lymph node that’s increasing in size and larger than 2cm → FBC and blood film

• US is used to examine lymph nodes if:

- Persistent beyond 6 weeks

- Isolated

- Larger than 2cm and increasing in size

• NG tube is diagnostic for esophageal atresia

• Causes of respiratory distress of an infant:

- IRDS

- Congenital pneumonia

- Transient tachypnea of the newborn

- Meconium aspiration syndrome → hours from birth, meconium may be aspirated before or at delivery,

may inhibit surfactant leading to pneumonitis, unlike IRDS incidence increases with gestational age (20%

after 42w), treated by O2 and antibiotics

- Pulmonary hemorrhage

- Milk aspiration

- Pulmonary air leaks (e.g. pneumothorax or pulmonary interstitial emphysema)

- Non-pulmonary conditions (e.g. congenital heart disease, sepsis or severe anemia)

• Most common cause of RD in term infants → Transient tachypnea of the newborn

- Caused by a delay in the resorption of lung liquid

- Risk factors include C-section

- Chest X-ray → fluid in the horizontal fissure - Managed by → O2