Peds Flashcards
Nontender abdominal mass associated with elevated VMA and HVA
Neuroblastoma
Most common type of tracheoesophageal fistula
Esophageal atresia with distal TEF - 85%
Unable to pass NG tub
Not CI to vaccination
Mild illness and/or low grade fever, current abx, prematurity
Tests to RO shaken baby syndrome
Opthalmologic exam, CT, MRI
Neonate has meconium ileus
CF
Hirschsprung disease is associated with failure to pass meconium for 48 hrs
Bilious emesis within hours of first feeding
Double bubble on AXR
Duodenal atresia
2 month baby presents with nonbilious project emesis, olive shaped mass
Dx
Managment
Pyloric stenosis
Correct metabolic abnormalities (hypochloremic hypokalemic metabolic alkalosis) then pyloromyotomy
Most common primary immunodeficiency
Selective IgA def
Infant has high fever and onset of rash as fever breaks- what at risk for
Febrile seizure due to roseola infantum
Immunodef: boy has chronic resp infection. Nitroblue tetrazolium test neg
Chronic granulomatous disease
Immunodef: child has eczema, thrombocytopenia, high IgA
Wiskot Aldrich
Immunodef: 6 month old boy life threatening Pseudomonas infection (or S pneumo or Haemophilus)
No tonsils or other lymph tissue
Brutonβs X linked agammaglobulinemia
B cell def
Acute phase Tx Kawasaki
High dose ASA for infl and fever
IVIG to prevent coronary a aneurysms
Tx mild and severe unconjugated hyperbili
Mild: phototherapy
Severe: exchanges transfusion
DO NOT PHOTOTX IF CONG
Sudden onset mental status changes, emesis, liver dysfcn after ASA
Reyeβs syndrome
Child loss of red light reflex. Dx Inc risk of what cancer?
Suspect retinoblastoma
Osteosarcoma inc risk
Vaccination at 6 months
HBV DTaP Hib IPV PCV Rotavirus
Tanner stage 3 in 6 yo female
PRecocious puberty
Infection of small airways with epidemics in winter and spring
RSV bronchiolitis
Current jelly stools, colicky and pain, bilious vomiting, sausage shaped mass in RUQ, target sign on US
Tx
Intussusception
Air barium enema
Congenital heart disease causes secondary HTN
Find on PE?
Coarctation of aorta
Dec femoral pulses on exam
1st line Tx otitis media
Amoxicillin x 10 D
Most common pathogen causing croup
Parainfluenze type 1
Homeless child small for age, peeling skin, swollen belly
Kwashiorkor- protein malnutrition
Defect in X linked syndrome with mental retardation, gout, self mutilitaion, choreoathetosis
Lesch Nyhan - pruine salvage problem with HGPRTase def
Newborn girl with continuous machine like murmur
Rx
PDA
INdomethocain to close
Newborn with posterior neck mass and swelling of hands
Turner
Age reflexes disappear
6 months
Developmental milestones: 2 months
Social smile
Lift head 45 degrees
Eyes follow to midline
Coos
Developmental milestones: 4 months
Laughs, aware of caregiver, localizes sound
Lift head 90 degrees
eyes follow past midline
Rolls front to back, grasps rattle
Developmental milestones: 6 months
Differentiate parents from others; STRANGER ANXIETY
Rolls over, holds self up with hands, sits without support
Grasps, attempts to feed self, transfers from hand to hand
Babbles
Developmental milestones: 9 months
Interactive games, separation anxiety (9-15 months) Crawls, pulls to stand Grasps with thumb (3 finger grasp) First words Waves, pat a cake
Developmental milestones: 12 months
Separation anxiety (9-15 mo)
Walks with help/alone, throws object
Pincer grasp, makes tower of 2 blocks
5-10 word vocabulary, follows 1 step commands
Developmental milestones: 18 months
Parellel play
Walks well, walks backward
Makes tower of four blocks, uses cup or sppob
10-50 word vocabulary with 2 word sentences
Developmental milestones: 2 yrs
Dresses self with help
Runs and climbs stairs
Makes tower of 6 blocks
50-75 word vocabulary with 3 word sentences
Developmental milestones: 3 yrs
Magical thinking Climbs and descends stairs Makes tower of nine blocks, draw circle Rides tricycle 3 word sentences
Developmental milestones: 4 yrs
Plays with others
Hops 1 foot
Able to draw line image then can draw closed image
250 word vocab with 4 word sentences - knows colors and numbers
Developmental milestones: 6 yrs
Distinguish fantasy vs reality Skips Draws person Fluent speech >5 word sentences
What is moro reflex
When disappear
CNS area
Extension head causes extension and flexion of limbs - startle reflex
3 months gone
Medulla and vestibular nuclei
What is grasp reflex
When disappear
CNS area
Placing finger in palm causes grasping
3 months
Medulla and vestibular nuclei
What is rooting reflex
When disappear
CNS area
Rubbing cheek causes turning of mouth to stimuli
3 months
Medulla and trigeminal
What is tonic neck reflex
When disappear
CNS area
HEad turned, arm on faced side extendeds and opposite arm flexes
3 months
Medulla and vestibular nuclei
What is Placing reflex
When disappear
CNS area
Rubbing foot dorsum causes foot to step up
2 months
Cortx
Vaccines asplenic kid
Hib (do not give to normal kids >5 yrs)
Pneumo
Tanner 1-5 male
1: small genitals and no hair
2: testicular and scrotal enlargement with skin coarsening, fine hair
3: penile enlargement and further testicular growth, more hair
4: enlargement and darkening of skin, hair coarser and spreads over larger region
5: adult genitalia with coarse hair
Psychosocial issues 10-13 yrs
Concerte thinking and early independent behavior
Psychosocial issues 14-16 yrs
emergence of sexuality, increased desire for independence, abstract thought
Psychosocial issues 17-21 yrs
increased self awareness, increased confidence in oneβs own abilities, more open relationship with parents, cognitive maturity`
Chr deletion 22q11 - thymic and parathryoid hypoplasia, congential heart disease, tetany (2/2 hypocalcemia)
Recurrent viral and fungal infections b/c insufficient T cells, PCP
DiGeorge
Persistent infection of skin, mucous membranes, naisl by Candida from T cel def
Frequently adrenal pathology
Possible dec IgG, poor reaction to cutaneous Candida anergy test
Chornic mucocutaneous candidiasis
Abnormal B cell differentiation resulting in low B cells, X linked, boys recurrent bacterial infections >6 mo
No B cells in peripheral smear
X linked agammaglobulinemia
Abnromal Ig production by B cells, increased resp and GI infection; Dec IgA, all other Ig normal
Anaphylactic transfusion reaction
IgA def
DO NOT GIVE IVIG
Defect T cell CD40 resulting in poor interaction with B cells, Low IgG, excessive IgM
ENCAPSULATED BACTERIA INFECTIONS
Dec IgG and IgG with inc IgM
Hyper IgM disease
Autosomal disorder of B cell differentiation resulting in low Ig levels but normal B cell levels and DEC PLASMA CELLS; inc resp and GI infections in 2nd decade lif; inc risk malignant noeoplasms and AI
Low Ig, poor response to vaccines, dec CD4: CD8; both men and women affected
Common variable immunodeficiency
Absent T cells and abnormal Ab fcn - severe immunocompromise 2/2 defect in stem cell maturation and dec adenosine deaminase
Recurrent infections of ALL TYPES
Frequently fatal at early age
Dec WBC and Ig
SCID
NEED PCP PROPHY
X linked, significant susceptibility to ENCAPSULATED bacteria and opportunistic pathogens, ECZEMA AND THROMBOCYTOPENIA, easy bleeding, recurrent otitis media, dec IgM, inc IgA or IgE, abnormal WASP gene
Wiskott Aldrich
WIPE Wiskot Infections Purpura Eczema
AR - CEREBELLAR DYSF, CUTANEOUS TELANGIECTASIA, inc risk cancer, impaired WBC and IgA development, cerebellar ataxia after 3 yrs of age, recurrent pulm infection
Cause?
Ataxia telangiectasia
DNA repair defect
Defect in which neutrophils cannot digest engulfed bacteria (not able to make superoxide), recurrent bacterial and fungal infections - usu catalase + = S aureus, E coli, Candida, Klebsiella, Pseudomonas, Aspergillus
Cut, pulmonary, perirectal abscess formation; chronic LNopathy
DX: Nitroblue tetrazolium test
Chronic granulomatous disease
Daily TMP SMX
Defect in neutrophil chemotaxis, T cell signaling, overproduction of IgE - chronic dermatitis, recurrent skin abscesses, pulm infections; coarse facial features, retained primary teeth
Inc eosinophils
Hyper IgE/Job
FATED Coarse Facies Abscess - S auresus retained primary Teeth hyper igE - eosinophilia Derm- eczema
AR dysfcn of neutrophils chemotaxis and MT polymerization - inc Staph aureus, strep, Gram N, fungal infections
Abnormal plts, neutropenia albinism, neuro dysfcn
Large granules in granulocytes on peripheral smear
Chediak Higashi
Inability of neutrophils to leave circulation bc abnormal leukocyte integrins (type 1) or E selectin (type 2)
Recurrent bacterial infection of resp and skin
Delayed separation of umbilical cord
Short stature, weird face
Leukocyte adhesion def - type 1 and 2
Multiple inherited deficiencies of one or more complement components; cannot form MAC = recurrent Neisseria, meningococcal or GC
Recurrent bacterial infection and predisposition for AI disorders like SLE
Hemolytic complement test abnormal
Complement deficiencies
Female with short stature, infertile, abnormal genitls, inc renal and cardiac defects (coarctation of aorta), craniofacial (protruding ears, neck webbing, low occipital hairline), possible horseshoe kidney
Turner 45 XO
Male with testicular atrophy, tall thin body, gynecomastia, infertile, mild mental retardation, psychosocial, female hair distribution
Klinefelter 47 XXY
Tx: testosterone
Male tall body (>6 ft), ace, mild mental retardation
XYY
Female with increased incidence mental retardation, menstrual abnormalities
XXX
Mental retardation, craniofacial (protruding tongue, flat nose, small ears), vision and hearing loss, broad hands SIMIAN CREASE, cervical spine instability, increased space between 1st and 2nd toes, inc risk duodenal atresia, AD, ALL, cardiac defects
Trisomy 21 -Down (increase with maternal age)
Severe mental retardation, small mouth, limb abnormalities (rocker bottom feet, overlaping fingers on grasp), cardiac and GI, fatal in first year
Trisomy 18 - Edwards
Cleft lift and palate, cardiac defects, CNS defects, severe mental retardation, rounded nose, polydactyly, frequently fatal within first year
Trisomy 13- Patau
X linked, lots CGG codon repeats, large face with prominent jaw and large ears, mild hand and foot abnormalities, large testicles, mental retardation, hyperactivity, possible seizures
Females only carriers
Gene?
Fragile X
FMR1 gene
Entire 5 p chromosome arm
High pitched catlike cry, small head, low birth weight, mental retardation, early mortality 2/2 FTT
Cri di chat
4p16 to end of arm
Mental retardation, multiple cranial abnormalities, seizures
Wolf Hirschhorn
15q11-15q13 deletion of paternal allele
Overeating, obesity, decreased mm tone, mental retardation, small hands and feet
Prader Willi
15q11-15q13 deletion of maternal allele
Puppetlike movement, happy mood, unprovoked laughter, mental retardation, seizure
Angelman
22q11, cleft palate, cardiac, mild mental retardation, significant overbite, speech disorder, T cell def, hypoCa, assoc with DiGeorge
Velocardiofacial