Paeds Flashcards
Features of Down syndrome:
- epicanthic folds - up slanting palpebral fissures - low set small ears - flat facial profile - short neck with excess skin - furrowed tongue - sandal toe deformity - Hypoplastic incurved 5th finger - single transverse palmar crease - brushfield spots
Features of Edward’s syndrome:
- micrognathia - heart defects - prominent occiput - low set ears - clenched hands with overlapping fingers - renal defects - limited hip abduction - rocker bottom feet
Features of fragile x syndrome:
- neurobehavioral problems - prominent forehead - large ears - long narrow face - prominent chin - macroorchidism Note: in addition to physical characteristics, complications include: seizures, scoliosis, mitral valve prolapse
What is the most common cause of inherited intellectual disability?
Fragile X syndrome
What is Turner syndrome?
It is one of the most common chromosomal abnormalities affecting 1 in 2000 live born infants. It is pan ethnic and has no known risk factors. It is due to absence of a set of genes normally present on the short arm of X chromosome. The most common cause is complete absence of one of the X chromosomes (Karyoptype 45x) with the paternal one being the missing one in 2/3 of the cases.
Most serious complication of Turner syndrome?
defects of the heart and coarctation of the aorta.. Note: that’s why HTN is more common in pts with Turner syndrome
What endocrine abnormality has been shown to occur in up to 30% of pts with Turner syndrome?
Hypothyroidism
Friedreich ataxia
differential diagnosis of Marfanoid body habitus
Marfanoid habitus
McCune-Albright syndrome
Neuroblastoma
Celerbral palsy
mgm of pts with cerebral palsy?
it must be individualised based on the childs clinical presentation and requires a multidisciplinary approach.
Botulinum toxin is effective in reducing spasticity for 3-6 months.
it should be given every 3-4 months to reduce formation of antibodies
T/F: Tubocurarine is used to treat cerebral palsy
False. it is used as muscle relaxant in anesthesia for surgical operations.
15 months old child has spastic cerebral palsy. what is the most suggestive of perinatal asphyxia as cause for this condition?
Cerebral palsy
Phenylketonuria
classic congenital adrenal hyperplasia
neurofibromatosis type 1
7 y/o girl with:
multiple hyperpigmented skin lesions over trunk & elbows, freckling in axilla & scoliosis of spine. sister has similiar presentation.
Dx?
Neurofibromatosis type 1
What is neurofibromatosis?
an autosomal dominant disorder producing tumors along the course of nerves and occasionally resulting in marked soft tissue or bony deformity.
what is Ataxia telangiectasia?
inherited autosomal recessive, multisystem disorder that presents with ocular & cutaneous telangiectasia, neurologic Sx & choreoathetosis.
Note: Ataxia is the earliest clinical Sx that may be apparent even when a child starts to walk
T/F: Sturge weber syndrome is heritable
False.
What is Von Hippel Lindau disease?
inherited autosomal dominant disorder characterised by a variety of benign & malignant tumours. Hemangioblastomas are the most typical lesions associated with it.
main clinical signs of Neurofibromatosis type 1?
1- multiple cafe au lait macules
2- axillary or inguinal freckles
3- neurofibromas
Prader willi syndrome
Kallmann syndrome
What is Kallmann syndrome?
isolated gonadotropin releasing hormone deficiency, also referred to as IHH with anosmia. It is a congenital genetic disorder where the primary Sx is a failure to start puberty or a failure to fully complete puberty. it occurs in both females & males
differential diagnosis of neuromuscular weakness
clinical features of absence features and inattentive staring spells
Mascular dystrophies
Note:
Age of onset difference. DMD is earlier (2-3 yrs of age) and is more severe (wheelchair bound by adolescence, death by 20-30 yrs due to Resp/heart failure)
By contrast, BMD has later onset (5-15 yrs of age) and less severe (milder Weakness, death by 40-50 due to heart failure).
..
pt with muscular dystrophy who has a maternal uncle with dystrophy who is ambulatory beyond age of 15. Dx?
Becker muscular dystrophy NOT duchenne muscular dystrophy
developmental milestones during toddlerhood
Primary amenorrhea evaluation
differentiating features of Hirschsprung disease and meconium ileus
Necrotizing enterocolitis
common causes of neonatal resp distress
evaluation of billious emesis in the neonate
3 y/o baby has nonbilious vomiting after feeds. palpable mass at margin of right rectus abdominus muscle.
Tx?
Hypochloremic metabolic alkalosis; pylorotomy
Tracheoesophageal fistula Tx
Surgical repair
Intestinal malrotation Tx
surgical emergency
Duodenal atresia Tx
Surgery
Intraventricular hemorrhage
acute bacterial rhinosinusitis
Acute cervical adenitis in children
Lyme disease clinical features
Infectious mononucleosis
Bacterial meningitis in children
MOST COMMON CAUSE OF MENINGITIS IN
NEONATES?
GBS (STREP AGALACTIAE) IS MOST COMMON CAUSE OF MENINGITIS IN NEONATES (<1 MONTH). AFTER 3 MONTHS, S. PNEUMO IS MOST COMMON CAUSE.
clinicial findings of congential infections
neonatal herpes simplex virus infection
infant botulism
how do you confirm Dx of infant botulism?
Stool culture
Most common Sx of infant botulism:
- Hypotonia
- poor ability to suck and pooled secretions
- poor head control
Perinatal hep B virus infection
Congenital toxoplasmosis
Tinea corporis (ringworm)
what microorganism causes travellers’ diarrhea?
Giardia Lambilia
initial Tx of Roseola ?
Supportive.
at emergency department, fluids should be given.
if pt has febrile seizures then you give Ibpurofen or Acetaminophen.
Rubella
T/F: Rubella infection can be confirmed by virus culture only
False.
virus culture or specifc serology
Mumps
Measles
A serious complication of measles?
A serious complication of measles is Subacute Sclerosing Pancencephalitis (SSPE)
Which presents 6-15 years after initial infection and affects mainly people in regions Without regular immunizations. Clinical features include:
- Regression in personality and intellect
- Myoclonic jerks
- Extreme neurologic dysfunction and death
Neonatal conjunctivitis
Conjunctivitis
Gonococcal conjunctivitis
Otitis externa
acute otitis media
Most common cause of AOM (acute otitis media)
S. PNEUMO
croup
in children with diabetes mellitus, loss of cals in urine due to glycosuria triggers what?
compensatory hyperphagia
DKA classfied as:
common complication in pts with craniopharyngioma before and after tumour resection
central diabetes insipidus. it is characterised by hypernatremia, dilute urine, normal extracellular fluid vollume, decreased arginine vasopressin
how to confirm Dx of septic Arthirtis
culture of knee aspirate
child meets criteria for septic arthirtis, what scan would you order for further evaluation?
ultrasonography
transient synovitis vs. septic arthiritis
Differnetial diagnosis of nontraumatic joint swelling
Ewing Sarcoma
legg-calve-perthes disease
pediatric septic arthirtis
Define:
Strabismus, Amblyopia, Esotropia, Exotropia
Strabismus: ocular misalignment. Light reflex is deviated from its normal Position.
Amblyopia: visual defect due to strabismus
Esotropia: Form of strabismus in which eye deviates medially. Light reflex. Can be seen lateral to normal position.
Exotropia: Form of strabismus in which eye deviates laterally. Light reflex. Can be seen medial to normal position.
3.5 y/o girl swallowed an unknown number of aspirin. She is flushed, hypotensive, tachypneic
what would be the acid base disturbances?
PH low, HCO3 high, pCO2 low
how to improve airway clearance in pts with cystic fibrosis
inhaled drugs that loosen and liquify the inspissated mucus and enhance mucociliary clearance (dornase alfa and/or hypertonic saline)
most common isolate found in mucus secretions in Cystic fibrosis pts
P. Aeruginosa
Note: in pts with new Dx of PNA, strep pneumo and H.influenza are the most common isolates
Bronchiolitis
pt is Dx with asthma exacerbation. What would suggest impending resp failure?
PaCO2 of 46 mmHg
tetralogy of fallot
Cyanotic heart disease in newborns
5 y/o has rash. 3/6 systolic murmur is hear on auscultation.
what would prompt you to order an echocardiogram or refer to cardiologist?
Concomitant diastolic murmur in cardiac area
Tx of coarctation of aorta
Alprostadil
BP discrepancy in the upper and lower limbs is highly suggestive of ?
Coarctation of aorta. CoA is usually associated with PDA and this is evidenced by Presence of continuous machine like murmur. Patient may be asymptomatic because The PDA allows bypassing of the coarctation. However, if the CoA is closed - i.e. with
Indomethacin which is an anti-prostaglandin - then the patient will have cyanosis.
Therefore, in CoA it is important to keep the PDA open and this is done with Prostaglandin E1
tetralogy of fallot causes central cyanosis. what is its characteristics?
bluish lips and tongue on exercise or activity. Boot shaped heart is a radiological sign seen most commonly in pts with tetra of fallot
Tx for contact dermatitis?
topical triamcinolone
Tx for extensive contact dermatitis
Oral prednisone