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
Bruton’s 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
Reye’s 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 one’s 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
7q11.23 Elfin facies (short, upturned nose, long philtrum, wide mouth), short, mental retardation, cheerful/friendly, cardiac defects (supravalvular stenosis)
Williams
Child abuse - which more suspicious GC or Chlam
GC, Chlam can be acquired at birth and persist for 3 years
Cyanotic heart defects
5 T
Truncus arteriosus- one atrerial vessel for both ventricles
Transposition of great vessels - Two arteries are switched
Tricuspid atresia
Tetralogy of Fallot
Total anaomlous pulm venous return
Noncyanotic heart defects
3d
VSD
ASD
PDA
Acyanotic vs cyanotic -which direction A
Acyanoti: Lto R
Cyanotic R to L
Associated disorder: ASD and endocardial cushion
Down
Associated disorder: PDA
Congenital rubella
Associated disorder: Coarctation of aorta
Turner, also may be bicuspid aortic valve
Associated disorder: Coronary a aneurysm
Kawasaki
Associated disorder: congenital heart block
Neonatal lupus
Associated disorder: supravalvular aortic stenosis
Williams
Associated disorder: Cotruncal abnormalities
Tetralogy of Fallot, truncus arteriosus, DiGeorge and velocardiofacial
Ebsteins
Lithium
Associated disorder: heart failure
neonatal thyrotoxicosis
Associated disorder: Asymmetric septal hypertrophy and transposition of great vessels
Maternal diabetes
Harsh holosystolic murmur at left sternal border
VSD
Eisenmenger
L to R shunt leads to pulm HTN and shunt reversal
Wide fixed split S2 systolic ejeection murmur left sternal border
ASD
Continuous machine like murmur, loud S2, wide PP, bounding peripheral pulses
Tx
PDA
Indomethacin to close
ASx HTN, SP of UE»LE, weak femoral pulses
CXR - 3 sign and rib notching
Coarctation of aorta
DiGeorge Syndrome S/S
CATCH 22 Cardiac - transposition Abnormal facies Thymic aplasia Cleft palate Hypocalcemia 22q11 deletion
Language development 12 mo 15 mo 18 mo 2 yrs 3 yrs
12: 1 word
15: 5 words
18: 8 words
2 yrs: 2 word phrase
3 yrs: 3 word phrases
Normal sexual development female
Thelarche–>Pubarche–>growth–>menarche
Normal sexual devo male
Gonadarche–>pubarche–>adrenarche–>growth
AR, normal at birth, few months later mental retardation, fair hair and skin, eczema, blond hair, blue eyes, musty urine odor; inc risk heart disease
What?
Enzyme defect
Tx
PKU
Dec phenylalanine hydroxylase or dec THB cofactor
Tx: dec phenylalainne - artificial sweetener
CF - mutation where, AR or AD
CFTR gene on Chr 7
AR
FTT, chronic sinopulm disease, recurrent pulm infection, digital clubbing, chronic cough, nasal polyposis, meconium ileus, greasy stools, rectal prolapse, male infertility, def fat soluble vitamins, DMII, salty skin,
Testing?
CF
Sweat chloride test, genetic testing
Hypochloremic alkalosis
Def alpha galactoside A - inc ceramide trihexoside
Severe neuropathic limb pain, angiokeratomas, telangiectasias, renal failure, inc thromboembolic events
Fabry’s
X linked rec
Fairy galactic
Absence galactosylceramide and galactoside - galactosylceramidase def = inc galacocerebreside in brain
Progressive CNS degeneration, death 3 yrs of life
Krabbe’s
AR
Krabbe-crab (GC)
Def glucocerbrosidase - inc glucocerbroside Gaucher cells - crinkled paper Anemia and thrombocytopenia Infantile form rapid neuro decline Adult- normal life span
Gaucher
AR
Def sphingomyelinase = inc sphingomyelin chol in RES and parenchymal cells
Cherry red spot and hepatosplenomegaly
Niemann Pick
AR
Pick sphinger
Absence of hexosaminadse- inc GM2 ganglioside
Normal until 3-6 mo - weakness and slowed development; death age 3
Cherry red spot and no hepatosplenomegaly
European
Tay Sachs
Sax- heXosaminidase
Def arylsulfatase A - inc sulfatide
Demyelination - progressive ataxia and dementia
Metachromatic leukodystrophy
AR
Def alpha Liduronidase
Corneal clouding, mental retardatin, gargoylism
Hurler’s
AR
Def iduronate sulfatase
Mild form Hurler without corneal clouding and mild mental retardation
Hunter
X link recessive (Hunters need to see)
Cause Meckels
Failure of omphalomesenteric/vitelline duct to obliterate
Dx Meckels
Technetium 99 scan
Failure to pass meconium in 48 hrs, explolive discharge of stool following rectal exam
Hirschsprung - lack of ganglion cells in distal colon
First month of life bilous emesis, distention, bloody or mucous in stool, AXR bird beak
Malrotation with volvulus - form bands that predispose to obstruction and constriction
Premature infant, first few days or weeks of lif, feeding intolerance, bloody stools, Sx may rapidly progress, dilated loops of bowel, air in bowel wall (pneumatosis intestinal is)
Necrotizing enterocolitis
AD recurrent episodes of angioedema lasting 2- 72 hrs, provoked by stress or trauma
C1 esterase def - hereditary angioedema
Kawasaki disease Sx
CRASH and BURN Conjuctivitis Rash Adenopathy- unilat Strawberry tongue Hands and feet- red, swollen, flaky = desquamate fingertips, polymorphous rash (truncal) BURN - fever >40 for >=5 d
Scarlet fever vs Kawasaki
Both: strawberry tongue, desquamation hands and feet, erythema of mucous membranes
Kawasaki: bilat nonexudate conjunctivits, dry, red chapped lips
AI disorder, morning stiffness, gradual loss motion at lest 6 wks <16 yrs old
Juvenile idiopathic arthritis
3 types JIA
- Pacuiarticular: 4 or less joints, ANA+ and RF-, uveitis common - slit lamp exam
- Polyarthritis: 5+ joints, symmetric RF + means severe disease
- Systemic onset/Stills disease: recurrent high fever, salmon colored macular rash, RF and ANA -
Common causes otitis media
Tx
S pneumo
nontypable H flu
Moraxella catarrhalis
Influenza A, RSV, parainfluenza
Tx: amoxicillin
Cause bronchiolitis
Age
S/S
RSV
<2 yrs
Tachypnea, wheezing, crackles
Acute onset fever, dysphagia, drooling, inspiratory retractions, hyperextended neck and chin protruding, tripod position, thumbprint sign
Major problem
Epiglottitis
Laryngospasm- do not exam throat without ENT or anesthesiologist
Steeple sign, barking cough,
Cause
Croup
Parainfluenza (RXV, influenza, adenovirus)
Cause epiglottitis
Before H flu
Now Strep, viral
Subglottic narrowing, cause generally S aureus, can follow viral URI, vaiable respiratory distress ,pseudomembrane
Tracheitis
HA, high fever, nuchal rigidity
Meningitis
Menigitis with petechial rash
N meningitidis
Tx meningitis neonates
Ampicillin + cefotaxime/gentamicin (no ceftriaxone due to risk of kernicterus)
Consider acyclovir
Tx meningitis older kids
Ceftriaxone + vanc
Common bacterial causes meningitis neonates
GBS
Listeria
E coli
Common bacterial causes meningitis children and infants
S pneumo
N meningitidis
H flu
age 6mo-6yrs, acute onset high fever, hot potato voice, drooling, unilat, likes to have neck extended
Common bug
Tx
Retropharyngeal abscess
GAS
I and D or aspirate, abx
> 10 yrs, hot potato voice, drooling, UVULA DISPLACED TO OPPOSITE SIDE
Common bug
Tx
Peritonsillar abscess
GAS
I and D, tonsillectomy, abx
Cause whooping cough
Bordetella pertussis Gram N
Gold stand Dx pertussis
Tx
Culture
Erythromycin
Prodrome: acute onset of high fever >60/104; no other Sx for 3-4 d
Rash: maculopapular rash that appears as fever breaks begins trunk and spreads to face and extremities, last
Roseola infantum/ exanthem subitum
HHV6 and 7
Prodrome: none
Rash: slapped cheek, pruritic, starts arms and spreads trunk and legs, worse with fever and sun
Complications: arthropathy, congenital infection = hydrops; aplastic crisis
Erythema infectiosum - 5th disease
Caused by Parvovirus B19
Prodrome: low grade fever, Cough, Coryza, Conjunctivitis, Kopliks spots (red with gray center)
Rash: maculopapular spreads from head to toe
Complications: otitis media, pneumo, laryngotracheitis, subacute sclerosing panecephalitis
Measles by Paramyxovirus
Prodrome: asymptomatic or tender LNopathy
Rash: erythematous, tender, maculopapular from head to toe
Fever is low grade, pt does not appear ill
Complications: encephalitis, thrombocytopenia, congenital infection - PDA, deaf, cataracts, mental retardation
Rubella by rubella virus
Prodrome: acute onset of high fever >60/104; no other Sx for 3-4 d
Rash: maculopapular rash that appears as fever breaks begins trunk and spreads to face and extremities, last
Roseola infantum
HHV6 and 7
Prodrome: mild fever, anorexia, malaise that precede rash by 24 hrs
Rash: pruritic teardrop vesicular; different stages of healing; face then spreads to reast of body but spares palms and soles
infectious from 24 hrs before eruption until crusts over
Complications: Meningoencephalitis, pneumo, hepatitis, bacterial infection, Reye’s syndrome
Varicella - VZV
Prodrome: fever, anorexia, oral pain
Rash: oral ulcers, maculopapular vesicular rash on hands feet and sometimes butt
Complications - non
Hand foot and mouth - Coxsackie A
Conj vs unconj hyperbilirubinemia in neonatal jaundice
Direct/conj pathologic (cholestatsis, Dubin Johnson, Rotors, TORCH)
Unconj: physiologic or pathologic (hemolysis, breast milkd, inc circulation, bili metabolism disorder, Crigler Najjar, Gilbert)
Kernicterus - bili deposits where
Levels must be what to deposit
Pins, basal ganglia, cerebellum
>25-30
Phys vs path jaundice of newborn Time? Inc bili? Peak? Direct % total? Resolves?
Phys Vs Path 72 hrs after birth vs first 24 hrs life < 5 mg/dL/d vs >0.5 mg/dL/hr Peak 15 10% total Resolves 1 -2 wks vs persists beyond 1-2 wks
L: S ratio of what indicates need for surfactant
<2:1
Retained amniotic fluid results in prominent perihilar streakin in interlobular fissures, Resolves with O2
Transient tachypnea of the newborn
Associated defects tracheoesophageal fistula
VACTERL Vertebral Anal Cardiac Tracehal Esophageal Renal Limb
Herniation of intestine only through abominal wall next to umbilicus with no sac - GI tract exposed
Gastroschisis
Tx: SURGICAL EMERGENCY
Herniation of abdominal viscera through abdominal wall into a sac covered by peritoneum and amniotic membrane
Assoc Beckwith Wiedmann and trisomies
Omphalocele
Surgery
L: S ratio of what indicates need for surfactant
<2:1
Cerebral palsy: spastic paresis of any or all limbs, mental retardation common
Pyramidal / spastic
Hemihypetrophy, macroglossia, visceromegaly
Beckwith Wiedemann
Ages febrile seizures
6 mo - 5 yrs
Bone tumor from neuroectoderm, assoc 11:22 translocation, Caucasion male, local pain and swelling with systemic Sx, found in midshaft of long bones
Dx: leukocytosis, inc ESR, lytic lesion with inion skinning
Ewing sarcoma
Excision w/ chemo and rads
Embryonal tumor of neural crest origin,
neuroblastoma
Children 2-5 yrs
Assoc: Beckwith Widemann, NF, WAGR
S/S: ASx nontender mass that does not cross midline
Wilms tumor
Intermittent abd pain, peripheral neuropathy w/ wrist or foot drop, acute encephalopathy
Microcytic hypochromic anemia with basophilic stippling
Tx
-=70
Pb poisoning
=70: EDTA + BAL
Hemihypetrophy, macroglossia, visceromegaly
Beckwith Wiedemann
Hx untreated strep infection, sandpaper-like rash on abd and trunk with circumoral pallor and strawberry tongue–>desquamate
SCarlet fever
Give penicillin to prevent rheumatic fever
Bone tumor from neuroectoderm, assoc 11:22 translocation, Caucasion male, local pain and swelling with systemic Sx, found in midshaft of long bones
Dx: leukocytosis, inc ESR, lytic lesion with inion skinning
Ewing sarcoma
Excision w/ chemo and rads
Strabismus normal until?
3 months
Leukocoria indicates
Rb
Congenital cataracts
Retinopathy of prematurity
Intermittent abd pain, peripheral neuropathy w/ wrist or foot drop, acute encephalopathy
Microcytic hypochromic anemia with basophilic stippling
Tx
-=70
Pb poisoning
=70: EDTA + BAL
Rick bite –> 1 wk later fever or chills, HA, prostration, severe malaise–>4 d later rash on palms and wrist an soles and ankles–>spreads to trunk and face
Tx
RMSF
Doxy or chloramphenical (2nd line)
Hx untreated strep infection, sandpaper-like rash on abd and trunk with circumoral pallor and strawberry tongue–>desquamate
SCarlet fever
Give penicillin to prevent rheumatic fever
Bilateral renal agenesis causes oligohydramnios (fetus swallows but cannot excrete), limb deformities, abnormal facies, hyoplasia of lungs
Potter syndrome
Pts die
AR degeneration of anterior horn cells (LMN)
Hyppotonic at birth, all affectd by age 6 months
Slowly progresive
Werdnig Hoffman disease
Sudden onset and hx honey ingestion,
Dx C botulinium tocin in feces
Infant botulism
X linked recessive, dystrophin
MM weaknes, elevated CK, pseudohypertrophy of calves, Gowers sign
Muscular dystrophy- Ducchenne
Expansile, lytic well demarcated lesion in proximal part of humerus
Benign
Unicameral bone cyst
Osteochondritis of tibial tubercle, boys 10-15 yrs, usu bilat,
osgood schlatter
Tx rest and NSAIDS
First born girl with breech delivery, + barlow and ortolani
CHD
Delayed bone age, knee thigh and groin pain with a limp; 4-10 yrs old
Legg Calve Perthe
9-13 yrs, obese, knee, thigh, groin pain with limp
SCFE
Grayish pseudomembranes on pharynx, tonsils or uvual w/ myocarditis
Diptheria - Corynebacterium diptheriae
Tx: antitoxin, Pen G / erythromycin
Tx pneumo neonates
Ampicillin and gentamicin
Tx pneumo neonates after 3-5 d of life
Vanc + gentamicin
1-4 mo tx pneumo
Macrolide
4 mo- 4yrs Tx pneumo
Amox if bacterial suspected
Viral is most common in this age group
> 5 Tx pneumo
Macrolide
benign vascular tumor present first days of life, increase in size, resolve within first 2-5 yrs in 50%
No Tx
Cavernous hemangiomas
Diffuse swellling or edema of scalp that CROSSES midline
Caput succedaneum (2 words - either side of midline)
Subperiosteal hemorrhages do not cross midline
Cephalohematomas
Abnormal type 1 collagen
osteogenesis imperfecta
Glomerulonephritis and hearing loss
Alports
Abnormal mm in abdomen causing wrinkled apperance, renal dysplasia, markedley tortuous and dilated ureters, enlarged bladder, cardiac and GI, cryptoorchidism, underdeveloped prostate, resp compromise, bulging abdomen, clubfoot
PRUNE BELLY SYNDROME
Chlamydial conjunctivitis also called
Inclusion