Pediatrics - Exam 2

Fanconi Anemia

constitutional aplastic anemia

autosomal recessive X linked

Fanconi Anemia S&S

change in pigmentation - hyperpigmentation and cafe au lait

skeletal abnormalities - short stature, missing radius, rudimentary thumbs

renal anomalies - aplasia, horseshoe kidney

microcephaly, microphthalmia, strabismus, ear anomalies, hypogenitalism

Fanconi anemia diagnostics

demonstration of increased chromosome breakage and rearrangement of peripheral blood lymphs

pancytopenia --> bone marrow failure

thrombocytopenia and leukopenia

purpura and petechiae

macrocytosis

Fanconi anemia treatment

supportive care

broad spectrum abx for fever

androgens

hematopoietic stem cell transplant

Diamond-Blackfan Anemia

congenital hypoplastic anemia

presents with pallor, CHF, jaundice, splenomegaly, short stature, and congenital anomalies (craniofacial and triphalangeal thumbs)

Diamond-Blackfan Anemia diagnostics

neutrophil count normal to slightly low

platelet count normal to low

bone marrow with decreased erythroid precursors and lack of RBC

macrocytic anemia with reticulocytopenia

Diamond-Blackfan Anemia treatment

transfusions

corticosteroids

allogenic bone marrow transplant

Transient erythroblastopenia

acute self limiting anemia affecting kids 1 mo to 6 yrs old

post viral

normocytic normochromic anemia

no signs of hemolysis

reticulocytopenia

temporary erythroid hypoplasia with decreased RBC production

no hepatosplenomegaly or LA

resolves in 4-8 weeks

Hereditary spherocytosis

MC membrane disorder and hereditary hemolytic anemia in North Americans

autosomal dominant

micro spherocytes in peripheral blood

Hereditary spherocytosis S&S

jaundice

splenomegaly

bilirubin gallstones

pallor, fatigue, malaise

Hereditary spherocytosis diagnostics

hemolytic anemia --> unconjugated hyperbilirubinemia

normocytic and hyperchromic (elevated MCHC and RDW)

Hereditary spherocytosis treatment

phototherapy, transfusion, EPO, splenectomy

Hereditary elliptocytosis

asymptomatic to severe transfusion dependent hemolytic anemia

more common in African, Mediterranean, and SE Asia

autosomal dominant

improved survival rate of malaria!

Thalassemia

disorders of hemoglobin synthesis

due to absent or defective alpha and beta chains of adult Hgb

microcytic hypochromic anemia

Hgb chains at birth

2 alpha and 2 gamma

Hgb chains at 2-4 months

gamma chains become beta chains

Alpha thalassemia

alpha chains defective or absent

symptoms start at birth

1 deleted - asymptomatic

2 deleted - trait, microcytosis, hypochromia with low MCV

3 deleted - Hgb H, chronic moderate hemolytic anemia and splenomegaly

4 deleted - hydrops fetalis

Beta thalassemia

presents later when gamma turns to beta

presence of 1 normal gene --> normal

homozygous --> severe anemia

increased hematopoiesis --> bone marrow expansion --> bony and growth abnormalities

Beta thalassemia minor

normal neonatal screening

microcytic hypochromic anemia

non-transfusion dependent

Beta thalassemia major

transfusion dependent

significant anemia within 1st year

microcytic hyperchromic anemia

target cells, basophilic stippling, poikilocytosis

hepatosplenomegaly

bony changes

cardiac failure

Sickle cell disease

found on neonatal screening

change in beta chain

elevated reticulocyte count

recurrent painful episodes

hepatosplenomegaly

Patients with sickle cell have increased risk of

bacterial sepsis (pneumococci and parvovirus B19)

aplastic crisis

vaso-occlusive events

delayed growth

Sickle cell anemia treatment

penicillin prophylaxis from 2 mo to 5 y/o

pneumonia vaccine

hydroxyurea starting at 9 mo

hematopoietic stem cell transplant - cure

crisis: hydration, correction of acidosis, O2 therapy, and pain meds

G6PD deficiency

episodic hemolytic anemia

oxidative stress triggers cause hemolysis of RBCs in spleen 2-3 days after trigger

G6PD triggers

fava beans, antimalarials, sulfonamides

infections

G6PD lab findings

bite cells, blister cells

confirmed with decreased levels of G6PD

Autoimmune hemolytic anemia

production of antibodies that bind to antigens on erythrocyte surface

IgG warm antibodies

IgM colds antibodies

extravascular hemolysis (destruction in liver and spleen)

most often after a viral infection

Autoimmune hemolytic anemia S&S

pallor

jaundice

lethargy

abdominal pain

low-grade fever

dark urine

hepatosplenomegaly

Autoimmune hemolytic anemia diagnostics

positive Coombs test

normochromic

normocytic

increased reticulocyte count

spherocytes or nucleated RBC

Autoimmune hemolytic anemia treatment

spontaneous remission

transfusion

plasmapheresis

steroids

IVIG

splenectomy

warming

rituximab

Henoch-Scholnein Purpura

immunoglobulin A vasculitis

purpuric cutaneous rash

migratory polyarthritis or polyarthralgia

intermittent abd pain

nephritis

common in boys 2-7

preceding URI - often caused by group A beta hemolytic strep

Henoch-Scholnein Purpura diagnostics

UA with hematuria +/- proteinuria

platelet count normal to elevated

ASO titer elevated with positive throat culture

serum IgA elevated

Henoch-Scholnein Purpura treatment

supportive care

NSAIDs

corticosteroids if extreme joint pain and GI sx

treat strep

Neuroblastoma

tumor arising from neural crest tissue of sympathetic ganglia or adrenal medulla

MC solid neoplasm outside CNS

increased incidence with neurofibromatosis type 1 and Hirschsprung disease

Neuroblastoma S&S

fever, weight loss, irritability, anemia, fatigue, HTN, limp

bone pain if metastatic

blueberry muffin rash as newborn

firm fixed irregular shaped midline abdominal mass - MC starting in adrenal gland

Neuroblastoma diagnostics

anemia

thrombocytosis

urinary catecholamines

XR with stippled calcifications

CT with kidney inferolateral

Wilms Tumor

aka nephroblastoma

MC primary malignant renal tumor

rapidly growing

rarely crosses midline

Wilms Tumor S&S

nontender firm flank mass

asymptomatic - incidental finding

abdominal pain

vomiting

microscopic hematuria

anemia

HTN

Wilms Tumor/Nephroblastoma associated finding

aniridia

hemihypertrophy

cryptorchidism

hypospadias

gonadal dysgenesis

pseudohermaphrodites

horseshoe kidney

WAGR (Wilms tumor, aniridia, ambigious genitalia, mental retardation

Wilms Tumor/Nephroblastoma diagnostics

US or CT abdomen

look for mets at lungs, lymph nodes, liver, brain, contralateral kidney, bone

Wilms Tumor/Nephroblastoma treatment

surgery +/- chemoradiation

Retinoblastoma

MC intraocular tumor in peds

if b/l --> inherited

Retinoblastoma S&S

leukocoria or absent red reflex

esotropia/strabismus

inflamed painful eye rarely

Retinoblastoma diagnostics

eye exam

white creamy pink pass protruding into vitreous matter

intraocular calcification and vitreous seeding

Retinoblastoma treatment

laser/cryotherapy

enucleation

chemoradiation

Langerhans Cell Histiocytosis

myeloproliferative neoplasm

abnormal histiocytes with nuclei deeply indented and elongated like coffee bean with pale cytoplasm and birbeck granules

Langerhans Cell Histiocytosis categories

eosinophil granuloma

Hand Schuller-Christian disease

Letterer-Siwe disease

Hashimoto-Pritzker disease

Langerhans Cell Histiocytosis - sites of disease

bone

skin

pituitary

Langerhans Cell Histiocytosis treatment

if localized - no treatment needed or topical corticosteroids or intralesional

if multiple organs - chemo +/- steroids

Rhabdomyosarcoma

MC soft tissue sarcoma of childhood

Rhabdomyosarcoma S&S

proptosis, ocular paralysis, chemosis, eyelid/conjunctival masses

chronic serous otitis

nasal voice, epistaxis, airway/sinus obstruction, dysphagia, facial palsies, pain

bladder, vagina, testicular sx

deformities, tenderness, redness

Rhabdomyosarcoma met sites

lung

bone

brain

lymph nodes

liver

heart

breast

Glomerulonephritis S&S

hematuria and urinary RBC casts

coffee or tea colored urine

HTN

facial edema

Acute postinfectious glomerulonephritis

post group B strep with recent illness in last 7-14 days

elevated ASO antibodies

depressed serum C3 complement and normal serum C3

asymptomatic or microcytic/gross hematuria with proteinuria and AKI

Acute postinfectious glomerulonephritis treatment

antibiotics to treat preceding illness causing problem

for HTN - reduce salt intake, diuretics, or HTN meds (CCB)

if severe - hemodialysis or corticosteroids

Acute postinfectious glomerulonephritis - post treatment

complement levels return to normal in 6-8 weeks

microscopic hematuria present up to 1 year

IgA nephropathy

asymptomatic gross hematuria resolves within a few days

MCC of glomerulonephritis

serum complement normal

flank pain or dysuria

biopsy for diagnosis

IgA nephropathy treatment

treat if proteinuria, HTN, or renal insufficiency - corticosteroids

Henoch-Schonlein Purpura (IgA vasculitis)

maculopapular and purpuric rash + 1 of the following:

-arthritis, arthralgias, abd pain, renal involvement (hematuria or proteinuria)

self limiting

treated with corticosteroids for joint pain

Renal vein thrombosis

common in infants of diabetic mothers

associated with umbilical vein catheterization

results from any hypercoagulable condition

Renal vein thrombosis S&S

sudden development of abdominal mass

oliguria if mass is bilateral

no single lab test is diagnostic

+/- hematuria

dx by US and doppler flow

Renal vein thrombosis treatment

anticoagulation with heparin

Reflux nephropathy

retrograde flow of urine from bladder into ureter (VUR)

renal scarring if high grade

recurrent UTIs

hydronephrosis on renal US

dx with VCUG

Reflux nephropathy treatment

will resolve spontaneously overtime

prophylactic abx

Proximal renal tubular acidosis - type 2

failure to resorb bicarb --> low serum bicarb

urine pH less than 5.5

hypokalemia

normal calcium

normal anion gap hyperchloremic metabolic acidosis

can be hereditary

Proximal renal tubular acidosis management

US to r/o urinary tract obstruction

citrate or bicarb supplementation

Distal renal tubular acidosis - type 1

defect in distal nephron in tubular transport of hydrogen ion

MC is hereditary

permanent condition

Distal renal tubular acidosis S&S

FTT, anorexia, vomiting, dehydration

hyperchloremia metabolic acidosis

hypokalemia

urinary pH above 5.5 and blood below 7.35

nephrocalcinosis, nephrolithiasis, and renal failure

urinary citrate level low

associated with hearing loss

Distal renal tubular acidosis treatment

correction of acidosis with citrate

Bartter syndrome

inability of body to resorb salt and electrolytes

serum hypokalemia, hypochloremia, metabolic alkalosis

very high serum renin and aldosterone

no HTN

renal biopsy --> juxtaglomerular hyperplasia

hx of polyhydramnios

Bartter syndrome S&S

post birth life threatening episodes of fever and dehydration

infants with polyuria and growth problems

Altered mental status

failure to respond in a manner appropriate to the developmental level

Spectrum of AMS

lethargy - decreased awareness

stupor - decreased eye contact, motor activity, can be aroused by noxious stimuli

comatose - unresponsive, cannot be aroused

AMS differential

Alcohol

Electrolytes, encephalopathy

Infection

Overdose

Uremia

Trauma

Insulin, intussusception, inborn errors of metabolism

Psychogenic

Seizures, shock, shunt

AMS imaging indications

all with acute AMS of unknown etiology

questionable elevated ICP - cant bring gaze up, full fontanels

trauma

focal findings

shunt malfunction

AMS LP indications

suspected meningitis/encephalitis

Hypoglycemia management

D10W in neonates

D25W in children

Trauma and hemorrhage management

neurosurgery consult

protect airway and intubate if GCS under 8

elevate HOB with head midline

don't hyperventilate unless herniation is imminent

Seizure management

if focal deficits - get HCT

drug levels

benzo

Infection management

broad spectrum abx ASAP

HCT

LP with CSF

Tumor management

consult neurosurgery

Vascular disease management

hemorrhagic - treat seizures, investigate coagulopathy

ischemic - supportive care, PICU, neuro, heparin if indicated

Hydrocephalus management

neurosurgery consult

Intoxications management

Narcan if needed for narcotic or clonidine

EKG

AMS management if unknown origin

stabilize patient ABCs, IV access, and rapid glucose

HCT

LP if labs ordered are not telling

Syncope classification in children

vasovagal, neurocardiogenic - orthostatic, athleticism, pallid and cyanotic breath holding, situational

cardiac - obstructive, arrhythmia, prolonged QTc, hypercyanotic

nonsyncope mimicker - migraine with confusion/stupor, seizure, hypoglycemia, hysteria, hyperventilation, vertigo

Syncope diagnostics

Hgb

EKG + cardio referral

tilt testing

EEG

neuro consult

Syncope treatment

education and reassurance

treat underlying cause (seizure, myopathy)

beta blocker

When to discontinue seizure meds

AEDs should be continued until patient is seizure free for at least 1-2 years, then have a conversation!

all must be weaned over 6-8 weeks

Sudden unexpected death in epilepsy (SUDEP)

person with epilepsy found dead with negative autopsy

very uncommon

Headaches red flags

HA in child under 5

new and worsening in healthy child

worst of life

unexplained fever

night time or early morning awakenings

worse with straining

neuro deficit

postural HA

neurocutaneous stigmata

When are headaches chronic?

greater than 15 headaches per month for 3 or more months

Headache treatment

lifestyle modifications

keep log to note triggers

abortive - triptans

preventative - antiepileptic (topamax), BB, amitriptyline, cyproheptadine

TBI H&P considerations

beware of distracting injury

detailed neuro exam

GCS for every head trauma

Concussion management

no school for 1 week on "brain rest"

no physical activity until symptom free

return to play protocol

Complications of concussion

epilepsy

cumulative effects

post concussion syndrome

post traumatic headache

post traumatic vertigo

second impact syndrome

Meningitis S&S

nuchal rigidity

bulging fontanel

fever/chills/headache

poor feeding or anorexia

seizures

photophobia

petechial/purpura rash

positive kernig sign (pain behind knee during leg extension)

positive brudzinski (flexion of hip and knee with passive flexion of nexk)

Meningitis lab studies

CBC, CMP, blood culture

LP with PCR for herpes - CT or MRI first ideally

Causes of bacterial meningitis

strep

neisseiria

H flu

Hypo/hypertonia

hypotonia - problem with muscular or neuro

hypertonia - injury to CNS