pediatrics 1

Child can lift their head is alert to sounds and coos he can recognize his parents and shows a social smile this is normal around what age

2m

A child rolls back to front and vice verca he can grasp things laughs and squeals at what age is this normal

4-5m

Child can sit unassisted,can transfer objects,babbles and has stranger anxiety

6m

A child can crawl and pull to a stand can use 3 fingers says mama and dads and waves bye bye

9-10m

Can walk alone use two fingers to grasp things use 1-3 words has seperation anxiety and follow one step commands

12m

Walks up and down the stairs (with support), uses 2 word sentences and follows two step commands

2yrs

Walks up and down the stairs (without support) Rides tricycle copies a circle and use 3 word sentences

3yrs

immature pincer grasp and it shows around what age

3 fingers grasp at 9-10m

Mature pincer grasp and it shows around what age

2 fingers grasp 12m

A mother brings her 2yrs old child with the concern of her child having problems socializing at daycare has limited interests apart from his stuffed toy and insists on having dinner and bath time at a specific time what would be the most plausible Dx ? Managment?

Autism

Refer to a padiatrician or speech therapist

What is FTT?

Weight less than 5th percentile

Dropping 2 curve lines on the chart

Normal growth range in percentiles

25th to 50th percentile

Most common cause of FTT

Inadequate food intake

Most common cause of short stature

1)familial/ genetic (doesnot cross the percentiles )

2)consistutional delay (upto 6m)

Name the 4 normal variants that can present as FTT

1)familial / genetic (doesn’t cross percentiles)

2)premature infant

3)constitutional delay of growth (upto 6m)

4)catch down (upto 6m-12m)

What test is used for celiac disease

TTG A and IgA

Test used for cystic fibrosis

Sweat chloride test

Normal ages of sexual development ? What order do the events occur ?

Woman 8-13

Man 9-14

Thelarche > growth spurt > pubarche > menarche

Gonadarche > adrenarche > growth spurt

A 6 year old girl presents with breast development whats the Dx ? Invx?imaging?

Dx: precious puberty

Invx: hand xray (r/o constitutional growth)

Gnrh stimulation test (r/o central) test & estra (r/o pheripheral)

Imaging: central > brain mri peripheral > u/s testis or uterus

At what cases is bone age affected

1)constitutional delay (delayed)

2) chronic diseases (slightly delayed)

3)PP (advanced)

When should a Brain mri be done in Central precocious puberty

Girl <6yrs of age

Men

A child presents with flat facial profile , up slanted eyes and a single palmar crease on physical examination he shows a neck instability ? Whats the Dx ? What other associated diseases can be seen ?

Dx: Down syndrome (trisomy 21)

Associated diseases: duodenal atresia , PDA/ASD/VSD, ALL

A child presents with rocker-bottom feet on echocardiogram he showed a VSD whats the most possible Dx of genetic abnormality

Edward’s syndrome trisomy 18

A child presents with microopthalmia, microcephaly, cleft palate and polydactyl whats the most possible genetic abnormality Dx

Patau syndrome trisomy 13

A girl presents with primary amenorrhea in physical examination there was short stature and abnormal heart sounds on echo cardio gram she shows COA and bicuspid aortic valve whats the most possible genetic abnormality of Dx?

Turner syndrome 45 XO

Most common cause of primary amenorrhea in women

Turner syndrome 45 XO

A man presents with short stature, widely spaced eyes and infertility on physical examination there was cryptorchidism abnormal heart sounds were heard an echo was done that shows pulmonic valve stenosis whats the most possible genetic abnormality Dx?

Noonan syndrome

A 15 year old boy presents with obesity, almond shaped eyes hx of hyperphagia and sleep apnea on physical examination the testis was small and there was no marked hair on the chest or pubic area whats the most possible genetic Dx ?

prader willi syndrome deletion of paternal 15q11-q13

A 15 year old woman presents with primary amenorrhea obesity, almond shaped eyes hx of hyperphagia and sleep apnea she was diagnosed with DM type 1 1 months ago on physical examination the breasts are behind on tanner stage and there was no marked hair on the pubic area whats the most possible genetic Dx ?

Prader willi syndrome deletion of paternal 15q11-q13

Down syndrome screening (6)

1) Hearing 0-6m yearly 1-5yrs 2yrs upto 18yrs

2) Vision 0-6m yearly 1-5yrs 2yrs upto 18 yrs

3)TFT at birth and annualy

4)dental and oral 3-6m

5) AAI

6) GIT

A new born presents with a cherry red spot and hepatosplenimegaly whats the most possible genetic abnormality Dx

Neimann pick disease

A new born presents with a cherry red spot on the retina during a fundus exam whats the most possible genetic abnormality Dx

Tay sachs disease

A child presents with large jaw testis ears intellectual disability and autistic behavior whats the most possible genetic abnormality Dx

Fragile X syndrome

Most common cause of intellectual disability

Down syndrome

Second most common cause of intellectual disability

Fragile X syndrome

2 diseases screened at birth in Australia

PKU

CF

What are the PKU c/F

Intellectual disability

Musty urine odor

Eczema

A neonate was presents with juandice on day 3-5 of life lab investigations show serum unconjugated biliruben <5mg/dl whats the Dx?whats the rx?

Dx: physiological juandice (resolves term 1 wk preterm 2wks)

Rx: oral hydration > iv

A neonate presents with juandice on the first day of life lab investigations show serum unconjugated biliruben >5mg/dl whats the Dx? Invx? whats the rx?

Dx: pathological juandice

Invx: CBC, CRP, blood culture urine culture (r/o sepsis)

Rx: oral hydration>iv , phototherapy

A neonate presents with juandice on the first day of life lab investigations show serum conjugated biliruben >5mg/dl whats the Dx? Invx? whats the rx?

Dx: pathological juandice

Invx: CBC/blood group/direct coomb test, Crp/blood culture/urine culture (r/o sepsis ), LFT

Rx: refer to a gastroenterologist (r/o biliary atresia) oral hydration > iv, phototherapy

Causes of unconjugated biliruben juandice

1) ABO incompatibility / RH

2) hemolysis

3) thalassemia / SCD

A neonate presents with juandice lethargy hypotonia poor sucking high pitched cry and seizure lab investigations show serum conjugated biliruben >2mg/dl rapidly rising despite hydration and phototherapy whats the Dx ? Rx?

Dx: acute biliruben encephalopathy

Rx: exchange transfusion

A neonate presents with juandice on the first 48-72hrs of life poor weight gain and reduced bowel movements lab investigations show serum unconjugated biliruben >5mg/dl whats the Dx? whats the rx?

Dx: breastfeeding juandice

Rx: hydration ± phototherapy

Refer to lactation consultant

A neonate presents with juandice on the first 48-72hrs of life there are no other complaints lab investigations show serum unconjugated biliruben >6mg/dl whats the possible Dx? whats the rx?

Dx: breast milk juandice

Rx: nothing

Whats the most common cause of respiratory failure in a preterm infant

Respiratory distress syndrome

A preterm male neonate presents with nasal flaring intercostal retractions expiratory grunting and tachypnea on physical examination RR >60/min and the mother has DM there are not other findings whats the Dx ? Invx? Rx?

Dx: RDS

Invx: cxr (bell shaped thorax, air bronchogram)

, cbc/abg/blood culture (r/o inf)

Rx: CPAP

How do we prevent RDS in mothers with risk of preterm delivery

Corticosteroids

A neonate term/post term delivered presents with tachypnea on examination breath sounds wer clear but there is cyanosis at mother has hx of dm and asthma delivery was via c section whats the Dx ? Invx? Rx?

Dx: TTN

Invx: cxr (peri hilar streaking)

ABG, blood culture , (r/o inf )

Rx: CPAP

Rf of TTN

1) Mhx dm and asthma

2) term or post term

3) small or big for gestational age

4) c section

RDS vs TTN

• Preterm vs post term

• Tachypnea and RD vs tachypnea

• Doesn’t improve immediately after rx vs improves immediately after rx

A post term neonate with hx of meconium stained liquor presents with tachypnea nasal flaring intercostal retractions nasal grunting and cyanosis on examination there are rales and rhonchi on auscultation whats the Dx? Invx? Rx?

Dx: meconium aspiration

Invx: CXR (dots around)

ABG ,blood culture , (r/o inf)

Rx: CPAP

Whats the most common cause of infant death between 2-4m of age

SIDS/SUDI

Acyanotic diseases (LFT to RT)

ASD/VSD/PDA

Cyanotic diseases (RT to LFT)

TOGA/TA/TOF

Most common type of CHD

VSD

A child presents bouts of being tired on examination he is seen to have a wide fixed s2 sound whats the Dx? Invx? Rx?

Dx: ASD

Invx: echo

Rx: small spontaneous closure CHF f/u echo>diuretics> surgery

A child with presents with bouts of being tired on examination a harsh holosystolic murmur was heard mother has a hx of alchoholism whats the Dx ? Invx? Rx?

Dx: VSD

Invx: Echo

Rx: small spontaneous closure CHF f/u echo>diuretics > surgery

A baby presents with bouts of being tired on examination a machinery murmur is heard whats the Dx? Invx? Rx?

Dx: PDA

Invx: echo

Rx: indomethacin

Fails or 6-8m surgical closure

What are the conditions in which a PDA needs to remain open for survival

1) TOGV

2) TOF

3) hypoplastic left heart

Risk factors of COA

Male patient with turner syndrome and a berry aneurysm presents with lower extremity syncope claudication epistaxis and headaches on examination the blood pressure on lower extremities is lower than upper extremities whats the Dx ? Invx? Rx?

Dx:

Invx: Doppler echocardiogram (gold standard)

Cxr 3 sign and rib notch

Rx: PGE1 (to keep PDA open )

Most common cause of congenital cyanotic heart disease in new norns

TGV

A newborn presents with cyanosis on examination there was hypoxemia and a loud s2 on cxr an egg shaped silhouette heart was shown whats the Dx? Invx? Rx?

Dx: TGV

Invx: Echo

Rx: PGE iv (to maintain or keep PDA open)

Surgical repair

Whats the most common cause of cyanotic CHD in children

TOF

A 2 year old child presents with cyanosis and dyspnea mother says after a playing session the child saute for a few minutes before resuming to play on examination there is an upper left sternal border a right ventricular heave and a single s2 CXR shows a boot shaped heart silhouette whats the Dx ? Invx? Rx?

Dx: TOF (RVH+RVOT+OA+VSD)

Invx: echo

Rx: tetspells > o2 fluids, knee to chest propranolol, phenylephrine

PGE1 (to keep PDA open )

Surgical repair

Risk factor for TOGV

Maternal diabetes

Innocent murmur criteria

1) <1yr of age

2) <2 grade intensity

3) short systolic

4) softer intensity when sitting

A child 6m-4yrs of age presents with a fever of 39 degrees for more than 5 days mother says he has had a rash staring from the Bally area that has later spread to trunk and face on examination he has conjunctival eye infection strawberry tongue edema on hands and feet cervical lymphadenopathy and perianal peeling whats the Dx? Rx? Complications?

Dx: Kawasaki disease

Rx: IVIG (best within 10 days of fever outbreak) ± aspirin

Compl: Coronary artery annuerysm, myocarditis, pericardial effusions, cardiac temponade

Most common cause of acquired heart disease

Kawasaki

An indigenous child 5-14yrs with a hx of throat infection 2 wks ago presents with high grade fever multiple joints pain with on examination there is involuntary upper limb and lower movements, bright pink circular lesions on auscultation a dustily murmur is heard Whts the Dx? Invx? Rx?

Dx: acute rheumatic fever

Invx: ASO titer throat swab esr/crp echo ecg

Rx: hospitalize > IM Benzathine pencillin / oral pencillin 10days

IM benzathine pencillin /month for 10 years

ARF criteria (aboriginal)

(Hx of strep inf + 1major /2minor )

Major: carditis , polyarthritis, polyarthalgia, Sydnem chorea, erythema marginatum, subcutaneous nodules

Minor: Fever , crp >30 esr >30 , prolonget p r interval

ARF criteria (other groups )

(Hx of strep inf + 1major /2minor )

Major: carditis , polyarthritis, Sydnem chorea, erythema marginatum, subcutaneous nodules

Minor: Fever , crp >30 esr >30 , prolonget p r interval, polyarthalgia