Pediatrics Flashcards
kid with macrocytic anemia, low retic count and congenital anomalies, suspect what dX?
Diamond-Blackfan syndrome aka congenital hypoplastic anemia
see elevated fetal hemoglobin levels
tx: corticosteroids or transfusion therapy
adolescent with nasal obstruction, visible nasal mass and frequent nosebleeds
juvenile angiofibroma
4 yo with hypoglycemia, hyperuricemia, hyperlipidemia and lactic acidosis, doll-like face
Von Gierke’s
Type 1 glycogen storage disorder caused by deficient glucose-6-phosphatase
patients with precocious puberty and high LH, next step?
brain MRI
what immune deficiency predisposes to Giardia infections
IgA deficiency
kid is peeing protein, best first test?
repeat test in 2 weeks, then quantify with 24 hour urine
Tx for erythema toxicum?
reassurance
> 25% lymphoblasts is diagnostic for what illness
ALL
chorioretinitis, hydrocephalus and intracranial calcs
toxo
mgmt of kid with epiglottitis
endotrach intubation in the OR
mgmt of kid with bilious vomiting and decreased stool output
gastrograffin enema
newborn with cyanosis that is aggravated by feeding and resolves with crying
choanal atresia
MC complication of sickle cell trait
painless hematuria
mgmt newborn with scaphoid abdomen and respiratory distress
congenital diaphragmatic hernia
endotrach intubation
mgmt aplastic crisis in sickle cell
transfusion
when consider formula supplementation in a neonate
if loses >7% of birth weight
15yo with progressive muscle weakness, atrophy of thenar and hypothenar eminences, testicular atrophy? Dx? inheritance?
Myotonic dystrophy
AD
when intervene in a kid with cryptorchidism?
if testes haven’t dropped within 6 months of birth
newborn with irritability, high pitched cry, diaphoresis, sneezing: what drug did mom abuse?
heroin
kid with white eye reflex, next best step?
refer to optho
retinoblastoma until proven otherwise
pt with croup with respiratory failure, next step?
Rac Epi before intubate, decreases need for intubation
child with acute rheumatic fever with valvular dz
all pts wtih rheumatic fever should be treated with PCN. duration depends, but at least til 21 or in some cases 40 yo
girl with precocious puberty, pigmentation adn polostotic fibrous dysplasia, dx?
McCune Albright
Hep B is associated with what kind of nephropathy?
membranous!
see low C3
mgmt of pubertal gynecomastia
no workup or tx usually self resolves within 2 years
when begin visual acuity testing?
3 years old
in premature babies, what increases the risk of iron deficiency anemia as infants?
introduction of cows milk before age 12 months
soft tissue swelling in feet and hands of baby with sickle cell
dactylitis
Cri du chat gene is on what chromosome?
5p
tympanic membrane with peripheral granulation and some skin debris–dx?
Choelsteatoma
2/2 chronic middle ear dz
retraction pocket in the tympanic membrane
kid presents with toxicity with anticholinergic sx
what med? what tx?
TCAs
Tx: sodium bicarb if wide QRS >100
RF for intussuception in older kids
Meckel’s diverticulum
kid exposed to chicken pox, nml immunity, no h/o vaccination, next step
vaccinate!
only give IVIG if immunocompromised
triple bubble sign and gasless colon: dx? Rf?
jejunal atresia
RF: mom who used cocaine or other vasoconstrictive drugs
what congenital cardiac defect is common in Edward’s syndrome?
VSD
mgmt ITP
observation regardless of the platelet count
if severe bleeding, give IVIG or steorids
what illness get a rash after giving ampicillin or amox?
Mono
tx gonococcal infxn in newborn
IM CTX
tx chlamydia infection in newborn
oral erythromycin
what skin lesion in newborns should be removed
nevus sebaceous because of concern for cancer
high direct bili in a 7 day old newborn dx?
biliary atresia
dark urine, pale stool, needs surgery
baby with respiratory distress with excess drooling
TEF
dx: place feeding tube and do xray
umbilical hernia associated with what?
hypothyroidism
big tongue
2 week old infant with bilious vomiting, pregnancy complicated by polyhydramnios
intestinal atresia or annular pancreas
assoc with downs syndrome
3 day old newborn hasn’t passed meconium? dx?
meconium ileus: dx/tx is gastrograffin enema
Hirschsprung’s: DRE –? explosion of poop, bx shows no ganglia
what don’t you do to a newborn with hypospadias
circumsize
lead poisoning tx
Mild 5-44: no tx, repeat in 1 month
Mod 45-69: give dimercaptosuccinic acid
>69: Dimercaprol + EDTA
neonatal fever tx
amp and gent until 48hr cultures negative, add cefotax if suspect meningitis
Café au lait spots, seizures, large head, AD
NF
Mandibular hypoplasia, glossoptosis, cleft soft palate with FAS or Edwards
Pierre Robin sequence
Broad, square face, short status, self injurious behavior. Deletion on Chr17
Smith Magenis
Seizures, strabismus, sociable with episodic laughter. Deletion on maternal Chr15
Angelman
Elfin appearance, friendly, increased empathy and verbal reasoning ability. Deletion on Chr 17
Williams
2 yo with multiple ear infections, diarrheal episodes and pneumonias. No tonsils on exam
o X-linked agammaglobulinemia
o Infections start a 6-9 months when maternal antibodies are no longer present
o Labs: absence of B cells on flow cytometry, low levels of all Igs
17yo F with ↓ levels of IgG, IgM, IgE and IgA but normal numbers of B cells
o CVID (acquired) o Complication: increased lymph tissue→ increased risk for lymphoma
MC B cell defect: recurrent UTIs, diarrhea
o Selective IgA deficiency
o Complication: anaphylaxis reaction if given blood containing IgA
3 week old male with seizures, truncus arteriosus and micrognathia
o DiGeorge syndrome
o Genetic defect: microdeletion on Chr22
o Candida, viruses and PCP pneumonia infections as a kid
Infant with severe infections, no thymus or tonsils, severe lymphopenia
SCID
Bacterial, viral and opportunistic bugs
MC is XLR. AR is Adenosine Deaminase deficiency
Tx: peds EMERGENCY, need BMT by age 1 or death
3yo M child with recurrent swollen, infected lymph nodes in groin and staph aureus skin abscesses
treatment?
Chronic Granulomatous disease XLR
PMNs can ingest but not kill catalase + bugs (NADPH oxidase deficiency)
Dx: Nitrotetrazolium blue (yellow means they have the disease) and new test is flow cytometry with DHR-123
Tx: daily bactrim and gamma interferon 3x/wk, BMT is curative but $$$
o 18mo M baby with severe eczema, petechiae and recurrent ear infections
o Wiskott-Aldrich Syndrome
o Often present with prolonged bleeding after circumcision
o ↓IgM, ↑IgA ↑IgE, slightly low IgG
decreased platelets 2/2 decreased platelet production
infections with encapsulated organisms
o Delayed separation of umbilical cord, recurrent bacterial infections, necrotic skin lesions, gingivitis
o Lekocyte adhesion defect
o Neutrophilia without polymorphs in the infected tissue or pus
o ↓CD18
: harsh systolic ejection murmur at L upper sternal border, single S2 – Dx?
tetralogy
surgery before 6 months is tx
14yo boy, starts out in 50% for height, in past 2 years is now between 5-10%
- Pathologic Short Stature
* Consider: craniopharyngioma (vision problems), hypothyroidism (TSH), Hypopit (check IGF-1), Turners (check karyotype)
MMR contraindication
neomycin or streptomycin allergy
when are live vaccines given
12 months
MMR
VZV
HepA
are febrile seizures a contraindication to tDAP?
no!
Newborn cyanotic, O2 doesn’t improve
o Transposition of great arteries
• MC: infants of diabetic mom
• No assoc murmur
2yo who gets cyanotic and hyperpnea while playing, squats down
o Tetraology of Fallot
• VSD and RA hypertrophy, overriding aorta, pulm stenosis
• Murmur: harshe SEM + single S2
• Tx: O2 and knee-chest position, surgical correction
Bipolar woman gives birth to a child with holosystolic murmur worse on inspiration?
Assoc arrhythmia?
o Ebstein anomaly
o Tricuspid insufficiency 2/2 TV displacement into RV
o Associated arrhythmia: WPW
Heart defect associated with DiGeorge syndrome. CXR shows ↑ pulm blood flow and bi-ventricular hypertrophy
o Truncus arteriosis
o Eisenmenger develops early
o Do surgery in 1st few weeks of life
Tx PDA
if not close by 1 week, tx with indomethacin or surgically close
Tx HOCM
BBs
CCBs
does PFO have an associated murmur?
NO
kid with failure to thrive in early childhood, what dx should you suspect
CF
o Precocious puberty, café au lait spots and multiple bone defects
o
McCune Albright
5% of precocious puberty
o assoc with hyperthyroidism, prolactin or GH secreting pituitary adenomas
tx Ca oxalate kidney stones
HCTZ
FH of kidney stones, what are they made up of
cystieine, can’t resorb certain AA
MCD tx?
prednisone for 4-6 weeks
make sure immunized against pneumococcus and varicella sine infection is the most common complication
dx in a nephrotic patient who suddenly develops flank pain?
renal vein thrombosis
2/2 peeing out ATII, protein C and S
Do a CT or stat US
MCC of sepsis in sickle cell kids
strep pneumo
tx acute chest syndrome
o2, abx and transfusion
tx sickle cell pt with stroke
transfusion NOT tPA
o 4mo pale baby, normal platelets, WBCs but hemoglobin is 4. Increased RBC ADA and low retics, triphalangeal thumbs
- Diamond Balckfan anemia
* Tx: corticosteroids, transfusions, stem cell transplant
o 18 mo baby with ↓ plt, ↓WBCs and profound anemia. Has café-au-lait spots, microcephaly and absent thumbs
- Fanconi Anemia
- Dx: bone marrow shows hypoplasia, cytogenetic studies for chromosome breaks
- Tx: corticosteroids, androgens, BMT
2 yr old baby with hyperactivity, impaired growth, abdominal pain and constipation
- Lead poisoning
- Dx: venous blood sample, check lead level
- Tx
- > 45 with succimer
- > 70 admit and tx with EDTA and dimercaprol
- Screening: test blood levels between 12-24 mo if low SES, live in old house (
15 yo F with recurrent epistaxis, heavy menses and petechiae. ↓plt only
ITP
tx: IVIG for 2 days then pred then splenectomy
NO PLT TRANSFUSION
15yo F with recurrent epistaxis, heavy menses, petechiae, normal plts, ↑bleeding time and PTT
vWd
DDAVP for bleeding or pre-op
place factor VIII contains vWF if bleeding continues
7 yo M recurrent bruising, hematuria, and hemarthroses, ↑PTT that corrected with mixing studies
- Hemophilia
* If mild, tx DDAVP, otherwise replace factors
1 week old newborn, born at home comes in with bleeding form the umbilical stump and bleeding diathesis
- Vit K def
- ↓ II, VII, IX and X
- same in a CF kid with malabsorption
- Tx: FFP acutely and vit K shot
HUS tx
NO PLATELETS
TPN
EARLY PERIOTNEAL DIALYSIS
DO NOT HAVE ANX FOR BLOODY DIARRHEA
2 yr old with HTN, asymptomatic abdominal mass that doesn’t ross the midline
Wilm’s tumor
best test: abomdinal CT, CXR for lung involvemnt
tx: surgery, cehmo, rads
4 yo with jerking mvmts of the eyes and legs, bluish skin nodules and tender abdominal mass that crosses the midline
Neuroblastoma
Dx: increased urine homovanillic or vanillymandelic acid
tx for otitis externia
topical cipro
tx Croup
rac epi neb
steroids
bronchiolitis tx
albuterol nebs
no steroids
CXR hyperinflation with patchy atelectasis, dx?
bronchiolitis
tx pertussis
erythromycin for 14 days + same for kids in daycare and family members
who needs at VCUG
all males
females 5 with 2nd UTI
any pyelo
5 yo male initially with a cold 1 week ago, now presents with a limp and effusion in the hip, x rays are normal, ESR is 35, T 99.8, WBCs 10k
Dx?
transient synovitis
next best step: bed rest for 1 week + NSAIDs
Tx SCFE
surgical pinning
good and bad prognostic factors for juvenile rheumatoid arthritis
good: +ANA
bad: +RF
Tx in order
NSAIDs
MTX
steroids
Tx KD
IVIG
ASA
tx febrile seizure
acetaminophen
no increased risk for epilepsy
6 month old brought in for multiple symmetric contraction episodes of the neck, trunk, extremities that occur in spells
dx? tx?
infantile spasms
common EEG finding: hypsarrhythmia: asynchronous, chaotic, bilateral
Tx: ACTH (pred is 2nd line)
newborn with extended wrist, decreased grip, claw hand
Klumpke’s palsy
C8 and T1
should resolve on own
also have ipsilateral horners
newborn with waiter’s tip hand?
Erb-Duchenne palsy
C5-6
grip intact, decreased moro
kids with CF who are less than 20 yo should get what ABx?
vanc bc staph is MCC of infections in CF pts who are under 20 years old
tx for acute bacterial sinusitis
augmentin
distress, dysphagia and drooling: dx and tx?
epiglotitis
tx = endotrach intubation in the OR
boy with 2d history of decreased appetite, neck swelling and irritability, keeps his head slightly rotated to the side: best step in mgmt?
x ray
likely has acquired torticollis
MC due to URIs, minor trauma, cervical lymphadenitis and retropharyngeal abscess
need C spine films to rule out a fracture or abscess
kid less than 2 with wheezing, crackles, tachypnea, retractions and nasal flaring, dx and tx
bronchiolitis
supportive tx
watch out for apnea, esp in kids less than 2 months
angioedema due to what deficiency
C1INH–> elevated levels of edema producing factors C2b and bradykinin
dx inspiratory stridor that’s worse when supine, crying or feeding and improves in the prone position?
laryngomalacia
dx: flex laryngoscopy, shows omega shaped epiglottis
- most will resolve on their own
what intervention for a breech presentation before week 37?
nothing, usually self correct before 37th week
workup for apnic spells? what associated with
CBC
associated with iron deficiency anemia
how prevent intraventricular hemorrhage?
avoid preterm birth
corticosteroids
what does APGAR tell you?
how newborn tolerated labor
newborn’s response to resuscitation
mental retardation, vomiting, athetosis, seizures and developmental delay over first few months? Dx?
PKU
tx: low Phe diet
Mental retardation,
direct hyperbili & jaundice
↓glc, cataracts, seizures
Dx?
Galactosemia
tx: no lactose for life
when worry about neonatal jaundice?
workup?
Bili >12
direct bili >2
increases > 5 per day
Coombs: (+) = ABO incompat or Rh
(-) –> twin/twin or mom/fetus transfusion or G6PD, etc.
tx for pathologic neonatal jaundice
phototherapy, exchange transfusion if that doesn’t work
what do we have to rule out with direct hyperbilirubinemia?
sepsis! galactosemia hypothyroid choledochal cyst CF
how dx and treat choanal atresia?
dx: can’t pass a catheter, CT scan
tx: oral airway, gavage feeding, surgical repair
tx respiratory distress syndrome
O2 therapy with nasal CPAP to keep alveoli open
due to Surfactant def, can’t keep alveoli open.
38 wkLGA infant born by C/Sto an A2GDM has dyspnea/grunting, CXR is clear: dx? tx?
transient tachypnea of the newborn
Lung fluid not squeezed out, retained
Usually minimal O2 needed. Self-resolves in hours to days.
41 wkAGA infant was born after ROM yielded greenish- brown fluid. *Next best step? *Complications?
Meconium aspiration syndrome
Intubate & suction before stimulation
Pulmonary artery HTN, pneumonitis
Newborn child with ambiguous genitalia. One month later has vomiting & ↓Na ↑K and acidosis.
–MC Cause?
–Definitive test?
–Tx?
Congenital Adrenal Hyperplasia
21 Hydroxylase deficiency. (autosomal recessive)
17-OH progesterone before and after ACTH bolus
Hydrocortisone and fludrocortisone (↑ doses in times of stress)
Complications of newborn hypoglycemia due to GDM?
Tx?
Neonatal seizure (always check glc!)
Feed frequently if
Complications of newborn hypocalcemia?
Neonatal seizure (always check Ca!)
newborn with
Hydrocephalus, intracranial calcifications and chorioretinitis
dx/tx?
Toxoplasmosis. Tx w/ sulfadiazine + leucovorin.
Newborn with:
Cataracts, deafness and heart defects (esp PDA, VSD), extramedullary hematopoeisis.
dx? tx?
Rubella. No tx.
Newborn with Microcephaly, periventricular calcifications, deafness, thrombo-cytopenia and petechiae.
dx? tx?
CMV. Tx w/ ganciclovir, but won’t prevent MR
newborn with:
Limb hypoplasia, cutaneous scars, cataracts, chorioretinits, cortical atrophy
dx? tx?
Congenital Varicella if mom infected 1st or 2nd trimester. If mom is exposed 5 days before –2 days after delivery, baby gets VZIG.
DOL 3-5, bilateral purulent conjunctivitis can cause corneal ulceration.
Gonococcal conjunctivitis tx w/ topical erythromycin and IV 3rd gen ceph.
DOL 7-14, red conjunctiva w/ mucoid discharge & lid swelling
Dx? tx?
Chlamydia conjunctivitis tx w/ oral erythromycin. Complication is chlamydial pneumonia cough, nasal drainage, scattered crackles+ bilat infiltrates on CXR
Tx Turner’s
estrogen replacement for secondary sex characteristics and to avoid osteoporosis
14 y/o boy, always been below 5% in height.
Parents are tall & were “late bloomers”.
Dx?
Constitutional Growth Delay
Bone age
short kid with short parents, bone age = real age, dx?
Familial Short Stature
Bone age = Real age.
what age does stranger anxiety begin
6 months
tx enuresis
behavioral tx
DDAVP
Imipramine (2nd line because of side effects)
immunizations at birth
Hep B
Loud S1 w/ fixed and split S2. Older child w/ exercise intolerance.
dx?
ASD
Continuous machine-like murmur w/ bounding pulses and wide pulse pressure.
dx?
tx?
PDA
Prematurity, congenital rubella syndrome
If not closed by 1wk, give indomethacin or surgically close
MC complication of acute rheumatic fever?
Mitral stenosis
Asthma: pt has sxs twice a week and PFTs are normal?
Albuterol only
Asthma: If pt has sxs 4x a week, night cough 2x a month and PFTs are normal?
Albuterol + inhaled CS
Asthma: If pt has sxs daily, night cough 2x a week and FEV1 is 60-80%?
Albuterol + inhaled CS + long-acting beta-ag (salmeterol)
Asthma: If pt has sxs daily, night cough 4x a week and FEV1 is
Albuterol + inhaled CS + salmeterol + montelukast and oral steroids
Diagnostic criteria for diabetes?
Fasting glc >125 (twice)2hr OGTT (75g) > 200Any glc > 200 + symptoms
MC nephropathy?
IGA nephropathy, Berger’s
best first test PSGN?
ASO titer
How tx Ca-oxalate stones
HCTZ
Treatment for kidney stones
–Stones 2cm
–Stones 5mm-2cm
Will pass spontaneously. Just hydrate
Open or endoscopic surgical removal
Extracorporal shock wave lithotropsy
Sickle cell kid with Proteinuria and increased creatinine+ recurrent UTIs?
Kidney infarcts due to sickled RBCs
Tx Thalassemia in kids?
Tx w/ transfusion & deferoxamine.
Can see expanded medullary space
target cells on smear
9 y/o F with Wilson’s disease developed fulminant liver disease.
–1stfactor depleted?
–2 factors not depleted?
VII, so PT increases 1st
VIII and vWF b/c they are made by endothelial cells.
TX HSP
Symptomatic treatment.
Can use steroids for GI or renal dz.
3 year old girl w/ a limp & left leg pain, T = 99.9, HSM, petechiae, & pallor. Cells are shown. Cells are CALLA and TdT +
Dx?
best test?
tx?
poor prog factors?
ALL
Bone marrow biopsy >30% lymphoblasts
VDP + CNS tx w/ intrathecal methotrexate
10, >100K WBC
14 y/o boy w/ enlarged, painless, rubbery nodes, drenching fevers, and 10% weight loss.
–Best test?
–And then?
–Treatment?
Hodgkin Lymphoma
Excisional biopsy.
Staging CT or laparoscopy. (determines tx)
Chemo + Rads. 90% cure if stage I or II
7 year old girl with non-productive cough and large anterior mediastinal mass on CXR.
–Best test?
–Treatment?
Non-Hodgkin Lymphoma
Biopsy of mass, bone marrow bx for staging
Surgical excision if abdominal tumor. Can use anti-CD20 if B-cell tumor. Rads for some.
2y/o w/ a fever to 105, 3 days later gets a pink, mac-pap rash on trunk arms and legs.
Roseola HHV6
2y/o w/ a low grade fever, lacy reticular rash on cheeks and upper body (spares the palms/soles)
–Who is this bad for?
5th Disease/Erythema Infectiosum-Parvovirus B19
Preggos, sickle cell, thalessemia
Fine, mac-pap desquamating rash begins on chest and spreads to neck, trunk, & extremities+ strawberry tongue. Sore throat 1-2wks prior.
–Treatment
Scarlett Fever, Group A strep
PCN prevents rheumatic fever. (won’t help reduce changes of APSGN)
Cough, runny nose, fever macular rash begins behind ears & spreads down. Gray spots on the buccal mucosa.
•Tx?
Measles
Vit a + supportive care
Sore throat, joint pain fever pinpoint rash on the face and spreads down. Rose spots on the palate.
•Complications?
Rubella
congenital rubella syndrome
Baby with poor feeding. Vesicles in the mouth on palms and soles + rash on buttocks.
Coxsackie virus
Hand-foot and mouth
16 year old M with swollen parotid glands, fever & HA.
•Complications?
Mumps(paramyxovirus)
Orchitis and sterility
6y/o kid from coastal NC, went camping. Had fever, myalgias, abdpain.
–Complications?
–Treatment?
Rocky Mountain Spotted fever. Rickettsia rickettsii
Vasculitis and gangrene
Doxy no matter what age
Inflamed conjunctiva and multiple blisters. Nikolsky’s+/
–Treatment?
Staph Scalded Skin Syndrome
From exfoliative toxin
Tx w/ IV ox or nafcillin
2 y/o w/ fever to 102, tugging on his right ear. Patient’s tympanic membrane is red and bulging. –Most sensitive dx test? –RF? –Treatment? –Complications?
Otitis Media
Limited mobility on insufflation or air-fluid level
↓SES, Native Americans, formula fed, tobacco smoke, around kids
Amox or azithromycin for 10days. If no improvement in 2-3 days, switch to amox-clav
Effusion-place tubes if bilat effusion >4mo or if bilateral hearing loss.
A child presents w/ “muffled voice”, stridor and refuses to turn her head to the left.
Retropharyngeal abscess
I&D for C&S. GAS + anaerobes. 3rdgen ceph + amp or clinda
Indications for tonsilectomy?
> 5 episodes of strep/year for 2 years or>3 episodes/year for 3 years
1 y/o w/ fever to 100.5 & “barking” cough and loud noises on inspiration.
–Most common bug?
–X-ray buzzword?
–Treatment?
Croup
Parainfluenza virus
“steeple sign”
Mist, epinephrine neb, steroids
2 y/o w/ fever to 104 & drooling w/ intercostal retractions and tripod position. –Most common bug? –X-ray buzzword? –Next best step? –Treatment?
Epiglottitis
H. Flu B only in unimmunized Strep pyo, strep pneumo, staph
“thumbprint sign”
Go to OR and intubate
Anti-staph abx + 3rdgeneration cephalosporin
Specific findings for chlamydia pneumonia?
Staccato cough, eosinophilia
9mo infant w/ runny nose, wheezy cough, T = 101.5, and RR = 60. Retractions are visible and pulse ox is 91%. –Most common bug? –CXR findings? –Treatment? –Who needs vaccine?
Bronchiolitis RSV. Confirm w/ swab Hyperinflation w/ patchy atelectasis Hospitalize if respiratory distress. Albuterol nebs. NO steroids
Palivizumab for premies, CHD, lung dz, immune dz
Tx pertussis
erythromycin for 14 days
UTI follow up in kids?
Test of cure to confirm sterility
2y/o F w/ a 2 wk history of daily fevers to 102 and a desquamating rash on the perineum. She has swollen hands and feet, conjunctivitis and unilateral swollen cervical lymph node. –Other lab findings? –Best 1st test? –Treatment? –Most serious sequelae?
Kawasaki
↑plts (wk2-3), ↑ urine WBC, ↑LFTs, ↑CSF protein
2D echo and EKG.
Repeat the Echo after 2-3wks of tx
Acute = IVIG + high dose aspirin.
Then aspirin + warfarin
Coronary artery aneurysm or MI
More diffuse bone pain in a patient w/ petechiae, pallor and increased infections
Don’t forget bone pain can be presenting sx for leukemia
Anytime you see a meningocele or myelomeningocele…
Do a head CT looking for hydro-cephalus. (Arnold Chiari II)
Anytime you see an infant with a head circumference >95th%…
Consider hydrocephalus. Also bulging fontanelle, ↑DTRs, HA, vomiting.
Noncommunicating hydrocephalus
Stenosis of CA, tumor/malformation near 4th ventr
Communicating hydrocephalus
SAH, pneumoncoccal/TB meningitis, leukemia
Infant with increasing head size, prominent occiput, cerebellar ataxia and delayed motor development.
–Dx?
–What will you see on CT or MRI?
Dandy-Walker malformation
Cystic expansion of 4th ventricle. Can see Agenesis of cerebellar vermis.
8y/o w/ difficulty w/ balance while walking, no DTRs, bilateral Babinski and “explosive, dysarthricspeech”.
–Most common cause of death?
Friedrich Ataxia
AR, trinuc repeat
HOCM –> CHF.
2y/o w/ gait disturbance, loss of intellectual fxn, nystagmusand optic atrophy. Cresylviolet metachromatic staining.
–Pathophys?
Metachromatic leukodystrophy
AR Deficiency of arylsulfatase A accum cerebroside sulfate
12y/o w/ decreased school performance, behavior changes, ataxia, spasticity, hyperpigmentation, ↑K, ↓Na, acidosis.
–Prognosis?
Adrenoleukodystrophy XLR
Death w/in 10 years
9mo who had previously been reaching milestones starts to lag. Seizures, hypotonia, cherry red macula
Pathophys?
Tay-Sachs
XLR
Def of hexosaminidase A accum GM2
3mo infant lays in the “frog-leg” position,
SMA 1-Werdnig Hoffman Disease
Most die before age 2
6y/o is brought in 2/2 “clumsiness” and frequent falls. The lower leg has decreased muscle bulk and appears “stork-like”. There are multiple small injuries on the hands and feet. You notice pes cavus and claw hand.
–Dx?
–Tests?
–Treatment?
Marie-Charcot-Tooth Disease
Decreased motor/sensory nerve vel, sural nerve bx. *CPK is normal Stablize ankles w/ surgical fusion. Usually normal lifespan and most remain ambulatory.
tx meningitis 0-4 weeks?
Amp + cefotax
tx meningitis 1 year to 50 years?
Vanc + CTX
pt presents with recent URI and neovascularization of cornea: dx?
trachoma
2/2 Chlamydia
dx: giemsa
tx: topical azithro or tetracycline
