Pediatrics Flashcards
Infant born with closed fists, overlapping finger, micrognathia, prominent occiput, rocker bottom feet, IUGR
Edwards Syndrome (trisomy 18)
2-6 month old pt with loss of motor milestones, hypotonia, cherry red macula, feeding difficulties, hepatosplenomegaly, areflexia
Niemann-Pick disease (sphingomyelinase deficiency)
- supportive tx
2-6 month old with loss of motor milestones, hypotonia, feeding difficulties, cherry red macula, hyperreflexia
Tay-Sachs (beta-hexosaminidase A deficiency)
Comorbid conditions with tourettes
ADHD and OCD
Pt with high fever for 6 days, red lips and eyes, rash on trunk, red and edematous hands and feet
Kawasaki disease
- at risk for coronary artery aneurysm and MI
Newborn in respiratory distress with CXR showing hyperinflated lungs with fluid in the interlobar fissures
Transient tachypnea of the newborn
- delayed resorption and clearance of alveolar fluid
Anomalies in kids with tracheal and/or esophageal defects
VACTERL (vertebral, anal atresia, cardiac, tracheoesophageal fistula, renal, limb)
Child with periorbital edema, mass anterior to left flank, weight loss, rapid, jerking movements of both eyes
Neuroblastoma
Newborn with bilious vomiting, no bowel movements and triple bubble sign on abdominal x-ray
jejunal atresia
*double bubble - duodenal atresia
newborn with desquamating rash on feet and buttocks, jaundice and clear rhinorrhea
syphilis
Child with 2 seizures, regression of speech, wide based gait, rubbing hands together
Rett syndrome
baby with vomiting, jaundice, poor weight gain, bilateral cataracts, hepatomegaly
galactose-1-phosphate uridyl transferase deficiency
child with reccurent infections, blood in stool, thrombocytopenia, eczema
Wiskott-Aldrich syndrom - x linked (WASP gene)
- impaired cytoskeleton changes in leukocytes and platelets
18 month old with recurrent sinus infections, rales and rhonchi in both lunds, PMI displaced to the right side of chest. Brother had similar infections
Kartagener syndrome (subset of primary ciliary dyskinesia)
Tx of UTI in child
3rd gen cephalosporin
3 year old boy with hx of multiple ear infections, pneumonia, giardia diarrhea, and small tonsils
X-linked agammaglobuinemia - abnormal B lymohicyte maturation
- recurrent sinopulmonary and GI infections
- absence of lymphoid tissue (tonsils, LN)
Tx of otitis externa
Topical ciprofloxacin +/- topical glucocorticoid
Child with fever and diffuse maculopapular rash that began on face and spread to the body. Before rash patient had cough, eye tearing, runny nose/congestion. Pt from Zambia
Measles
-tx: vitamin A
6 year old girl with precocious puberty, 2 large hyperpigmented macules and 2 long bone fractures when she was 4 and 5
McCune Albright
- irregular cafe-au-lait spots
- precocious puberty
- fibrous dysplasia of bone
- mutation in GNAS gene -> overproduction of pituitary hormones
Child with biphasic stridor (improves with neck extension) and difficulty feeding
Vascular ring - great vessels encircle & compress trachea
Lethargic infant with “sticky” bloody stools. Inconsolablr crying and mild LLQ tenderness.
Intussusception
- do an US guided air contrast enema
Hirschsprung disease is associated with which disorder
Down syndrome
Benefits of breast milk compared to formula
70% whey and 30& casein protein - whey is more easily digested by infants
Breast milk also contains lactoferrin, lysozyme, and secretory IgA proteins
Child with first time seizure, erythematous macular lesion over left forehead and eye that’s been present since birth, right homonymous hemianopia, receptive and expressive language delay
Sturge-Weber Syndrome - GNAQ gene - port wine stain (trigeminal VI/VII dist.) - seizures/hemiparesis - visual field defecits - glaucoma - leptomeningeal capillary-venous malformation Dx: get MRI of brain
Child placed on penicillin for strep pharyngitis develops rash, polyarthralgia, and fever
Serum Sickness Syndrome
- type III hypersensitivity (IC formation)
- sx 1-2 weeks after starting B-lactam or SMX
- can also be due to Hep B
Flat blue-grey patches over infants sacrum and buttocks
Mongolian spots (congenital dermal melanocytosis) - fades spontaneously
Child with speech and motor delays. Genes show hypermethylation of FMR1 gene
Fragile X syndrome
- speech and motor delays
- long face, prominent forehead, protruding ears, marcoorchidism
4 month old presents after a seizure. Has hepatomegaly and “doll-like” facies. Lab work shows hypoglycemia and lactic acidosis. Triglycerides and uric acid are also elevated. Patient is <5th percentile for weight
G6PD deficiency - inability to convert glycogen to glucose
Child with single enlarged, warm, tender lymph node. Has a temp of 100. Most likely etiology
Staph aureus
- Abx: Clindamycin to cover for MRSA and strep
Child has intermittent abdominal pain relieved by drawing his knees up to his chest. Has bloody bowels.
Intussusception
- air enema to tx
Tx for baby if mother has chicken pox during labor
administer varicella Ig to infant if maternal infection developed 5 days before or 2 days after delivery
Child with recurrent ear infections has persistent draining fluid from the ear. Ear exam shows some scarring of the TM, with peripheral granulation and some skin debris
Cholesteatoma
Boy falls with toothbrush in mouth then develops hemiparesis on the right, right hemianesthesia and mild motor aphasia.
Carotid artery dissection
2 year old presents for well visit. At age 4 months he was hypotonic. 3 months ago pt started developing involuntary movements of hands and feet, spasticity and dystonia. He also pinches himself and bangs limbs against the wall
Lesch-Nyhan Syndrome
- x-linked R
- def of hypoxanthine-guanine phosphoribosyltransferase
- accumulation of hypoxanthine and uric acid
6 year old presents with fever and painful swelling in groin. Pt had 4 previous episodes of cutaneous abscesses and a lung abscess. Pt’s cultures from affected lymph node grow aspergillus niger.
Chronic granulomatous disease
- x-linked recessive
- impaired intracellular killing by phagocytes
- pulmonary & cutaneous infections
- catalase + pathogens (staph aureus, serratia, burkholderia, aspergillus)
- neutrophil function testing: dihydrorhodamine 123 test or nitroblue tetrazolium test
Pt who drowned but is resuscitated is at risk for developing
ARDS - water washed out surfactant
cerebral edema (>5 min)
arrhythmia
Tx for croup
mild (no stridor at rest): humidified air and corticosteroids
mod/severe (stridor at rest): steroids + nebulized epi
13 day old girl with runny nose, cough, fussiness and 100 fever develops wheezes and crackles
RSV/bronchiolitis
- at risk for apnea and respiratory failure
Gene defect in osteogenesis imperfecta
COL1A1 - type 1 collagen
- frequent fractures, blue sclera, conductive hearing loss
Mutation in duchenne and becker muscular dystrophy
dystrophin
Mutation in achondroplasia
fibroblast growth factor receptor 3 (FGFR3)
Mutation in fragile X
FMR1
Neonate with bilious vomiting and abdominal distension on day 15. NG tube placed for decompression. Abdominal xray shows a gasless abdomen. What to do next
Upper GI series - malrotation
- ligament of trietz will be on right side of abdomen
Newborn screening exams after birth
newborn screen hyperbilirubinemia hearing screen pre- and post-ductal pulse ox hypoglycemia
Child with new developed clumsiness. Has new bitemporal hemianopia and diabetes insipidous. Supracellar calcified mass seen on brain imaging
craniopharyngioma
Caput succedaneum
in the skin
CROSSES SUTURES
Cephalohematoma
under the skin
DOES NOT CROSS SUTURES
VACTERL
Vertebra (xray sacrum) Anus (xray) Cardiac (echo) TE fistula (xray with coiled tube) Esophageal atresia Renal (VCUG) Limb (xray wrist)
Long term complication of vesicoureteral reflux in children
renal scar formation
Recurrent respiratory and GI infections in a young adult. What’s the underlying etiology
common variable immunodeficiency
- really low IgG and low IgA and IgM
- no response to vaccination
- need Ig replacement therapy
16 year old presents with splenomegaly, hepatomegaly, anemia, thrombocytopenia, bone pain, delayed puberty
Gaucher disease
- glucocerebrosidase def – accumulates in macrophages of bone, liver, spleen
- lysosomal storage disease
2 year old with chronic oligoarthritis, fever and rash
systemic juvenile idiopathic arthritis
Unconjugated hyperbilirubinemia and dehydration in the first week of life
Breast feeding jaundice
- breast milk jaundice persists after the first week
CD 19+
CD 3+
B cells
T cells
Normal development until 6-18 months, then regression of speech, loss of purposeful hand movements, development of stereotypical movements (pill-rolling, twisting, kneading), gait abnormalities and breathing abnormalities
rett syndrome
Potter sequence
oligohydraminos –> pulmonary hypoplasia, flat facies, limb deformities
Newborn with no prenatal care has protruding tongue, decreased activity, hypotonia, umbilical hernia
congenital hypothyroidism
- untreated leads to intellectual disability
Salter Harris Classification
Type I fracture through the physeal plate (often not detected radiographically)
Type II fracture through the metaphysis and physis (most common; up to 75% of all physeal fractures)
Type III fracture through the epiphysis and physis
Type IV fracture through the metaphysis, physis and epiphysis
Type V crush injury involving part or all of the physis
congenital brain malformation with an absent or dysplastic cerebellar vermis and cystic dilation of the fourth ventricle
Dandy Walker malformation
WAGR syndrome
Wilms tumor
Aniridia
GU abnormalities
Retardation
bulging, blue dome-shaped, translucent membrane at the level of the vaginal introitus
imperforate hymen
- dx: pelvic US
Most appropriate initial tx for tetralogy of fallot
knee to chest
Cause of edema in turner syndrome baby
congenital lymphedema
- lymphatic network dysgenesis
5 year old girl with marfanoid habitus, fair skin and eyes, and CVA (sudden weakness, +babinski and brisk DTRs
Homocystinuria
- pts have elevated homocysteine and methionine
- tx with B6, folate, B12
newborn male with poor urine output, diminished lung volumes bilaterally
Posterior urethral valves
- oligohydraminos in utero leads to lung hypoplasia
- renal and bladder US
pilocytic astrocytoma
most common brain tumor in kids
- usually in cerebellar hemispheres
- causes fine motor and coordination deficits
- hydrocephalus
Adopted baby drinking donated breast milk with swollen wrists and skull bones are soft and flexible to pressure
Rickets
- need vitamin D supplementation with breast milk
Deep impression of the posterior esophagus at the level of T4 in a 2 year old.
Vascular ring (malformation of aortic arch)
