peds32 Flashcards
clinical features of absence epilepsy of childhoo
absence seizures lasting 5-10 sec; occur hundreds of times per day; important: loss of posture, urinary incont, and postictal state do not occur
absence seizures on ee
generalized spike and wave discharge arising from both hemispheres
management of sbsence seizures
ethosuximide (first line) or valproic acid
prognosis for absence seizures
very good; seizures usually resolve by adolescence
benign rolandic epilepsy
aka benign centrotemporal epilepsy; nocturnal partial seizures with secondary generalization
most common partial epilepsy durign childhood
benign rolandic epilepsy
what age for benign rolandic seizures?
3-13 yo; boys are more likely to be affected
inheritance of benign rolandic seizures
aut dom, with variable penetrance
clinical features of benign rolandic epilepsy
early morning seizures with oral-buccal manifestations; seizures spread and become tonic-clonic
benign rolandic epilepsy on EEG
biphasic spike and sharp wave disturibance in the midtemporal and central regions
treatment fo rbenign rolandic seizures
valproic acid of carbamazepine
prognosis for benign rolandic seizures
excellent; seizures remit spontaneously during adolescence
throbbing or pounding headache
suggests migraine
aching feeling of pressure in the headache
suggests tension
unilateral headache that starts in the periorbital area and spreads to the forehead and occiput
migraine
generalized or bitemporal headaches
tension headaches
headaches in the morning
from incr ICP
headaches at night
tension headaches
most common cause of headaches in kids
migraines
inheritance of migaines
aut dom
what is the pathophys of migraines?
changes in cerebral blood flow secondary to release of serotonin, substance P, and vasoactive intestinal peptide from changes in neuronal activity
most common form of migraine in kids? (w or wo aura?)
without
migraine equivalent
no headache but transient vomitting, abdom pain, or vertigo
ophthalmoplegic migraine
unilateral ptosis or CN III palsy accompanies headache
basilar artery migraine
vertigo, tinnitus, ataxia, or dysarthria preceding the onset of headache
abortive treatment for migraines
sumatriptan (selective seratonin agonist)
prophylactic treatment for migraines
propranolol
prognosis for migraines
waxing and waning but often lifelong disorder
tension headaches age
extremely rare in kids less than 7; uncommon in childhood altogether
isometric contraction of the temporalis, masseter, or trapezius muscle often accompanies the headache
tension headache
treatment for tension headaches
reassurance and pain control, stress and anxiety reduction
cluster headaches
unilateral frontal or facial pain, accompanied by conjunctival erythema, lacrimation, and nasal congestion
cluster headaches in childhood?
rare
treatment for cluster headaches
abortive therapy with oxygen or sumatriptan. Prophylactic treatment includes CCBs and valproic acid
ataxia
inability to coordinate muscle activity during voluntary movement; causesd by cerebellar or proprioceptive dysfunction
acute cerebellar ataxia
unsteady gait 2/2 a presumed autoimmune or postinfectious cause
most common cause of ataxia in kids
acute cerebellar ataxia
age for acute cerebellar ataxia
18 month to 7 years; rarely after age 10
common preceding infections for acute cerebellar ataxia are?
varicella, influenza, EBV, and mycoplasma; ataxia usually follows 2-3 weeks later
cause of acute cerebellar ataxia
immune complex deposition in the cerebellum
clinical features of acute cerebellar ataxia
truncal ataxia, slurred speech, nystagmus, fever is absent
treatment of acute cerebellar ataxia
supportive; complete resolution in 2-3 months
guillain-barre syndrome
acute inflamm demyelinating polyneuropathy
most common associated infectiuous agent in guillain barre
campylobacter jejuni (prodromal gastroenteritis)
principle sites of demyelination in G-B
ventral spinal roots and peripheral myelinated nerves
pathophys of G-B
cell mediated immune response to an infectious agent that cross reacts to Schwann cell membrane
clinical features of G-B
asceniding symmetric paralysis; no sensory loss; CN involvement (facial weakness)
miller-fisher syndrome
variant of G-B; characterized by ophthalmoplegia, ataxia, and areflexia
dx of G-B
LP shows albuminocytologic dissociation, which is evident 1 week after sx onset
albuminocytologic dissoc
elevated CSF protein in the absence of elevated cell count
EMG for G-B
decr nerve conduction velocity or conduction block
dx G-B in kids less than 3
do spinal MRI, since their sensory exam is difficult to do
treatment of G-B
IVIG for 2-4 days; plasmapharesis over a 4-5 day period
prognosis for G_B
complete recovery is the rule in kids
sydenham chorea
St. Vitus’ dance; autoimmune disorder associated with rheumatic feverthat presents with chorea and emotional lability
is syndenham chorea common?
well it occurs in a quarter of people with rheumatic fever
onset age for syndenham chorea
5 and 13 yo
pathophys of syndenham chorea
antibodies cross react with membrane antigens on both group A strep and basal ganglia cells
clinical features of syndenham chorea
2-7 mos after strep pharyngitis; restless; speech affected; no sustained protrusion of the tongue; choreic hand; milkmaid’s grip; gait and cognition NOT affected
chameleion tongue
in syndenham chorea; unable to sustain protrusion of the tongue
choreic hand
hand flexed and hyperextended at metacarpal joints
milkmaid’s grip
on gripping the examiner’s hand, the patient cannot maintain the grip
diagnosis of sydnenham chorea
e;evated ASO or ADB titer; neuroimaging may show incr signal in caudat and puamen; CT shows incr perfusion to the thalamus and striatum
treatment of sydenham chorea
haloperidol, valproic acid, or phenobarbitol
prognosis of syndenham chorea
sx last for several months to 2 year; generally all patients recover
tourette syndrome
chronic, lifelong disorder with motor and phonic tics; presents before 18 yo
tics in tourettes
must be present for at least 1 year
coprolalia
uttering obscene words
associated findings in tourettes
learning disabilities; ADHD; ocd
management of tourettes
pimozide (drug of choice), clonidine (side effect is sedation), haloperidol (risk of tardive dyskinesia), hypnotherapy
prognosis of tourettes
tics decr in adulthood; drugs generally successful
duchenne and becker muscular dystrophies
both are x-linked myopathies characterized by motor degeneration
clonidine
alpha 2 ag; used to treat htn
which is more severe- duchenne or becker MD?
duchenne
onset of musc dystrophy sx?
between 2 and 5 yo
genetics of DMD and BMD
x linked; deletion in the dystrophin gene
pathophys if muscular dystrophy
dystrophin is a high MW protein that assoc with actin; absence of dystophin causes weakness and eventually rupture of the plasma membrane, leading to degen of musle fibers
pathology of DMD and BMD
degen and regen of muscle fibers; replacement of muscle with fibroblasts and lipid depositis; infiltration of lymphocytes
clinical features of DMD and BMD
slow progressive weakness affecting legs first; pseudohypertrophy of calves; gower’s sign; cardiac involvement
when do kids lose ability to walk in DMD? In bmd?
dmd by ten years; bmd by 20 yo or laer
gower’s sign
weakness of pelvic muscles, so when kids get up from the floor, they extend each leg and climb up each thigh
cognitive impairment in musc dystrophy?
mild in DMD but normal intelligence in BMD
diagnosis of muscular dystrophy
large calf muscles with weakness; CK levels are very high; muscle biopsy
management of muscular dystrophy
no cure but oral steroids can help improve strength a little
life expectancy for DMD? For BMD?
DMD- late teens; BMD- into their 50
myasthenia gravis
autoimmune that presents w progressive weakness
pathophys of myasthenia gravis
antibodies to Ach receptor at NMJ
neonatal vs juvenile MG
neonatal is transient weakness in the newborn pd 2/2 transplacental antibodies from mom with MG; juvenile MG present in childhood 2/2 AchR antibody formation
MG in girls vs boys
juvenile MG is 6x more common in girls than boys
most common presenting sign in juvenile MG
bilateral ptosis
clinical features of juvenile MG
increasing weakness occurs later in the day and w repetitive or sustained muscle activity; diplopia; DTRs preserved; other coexisting autoimm disorders
dx of MG
tensilon test (IV injection of edrophonium chloride, a cholinesterase inhib, produces transient improvement); decremental response to low frequency repetitive nerve stimulation; presence of AchR antibody titers
treatment for MG
cholinesterase inhib or IVIG in neonatal; in juvenile, cholinesterase inhib and immunotherapy
cholinesterase inhib used for MG
pyridostigmine bromide
immunotherapy for MG
corticosteroids used with cholinesterase inhib fail; plasmapheresis; IVIG; thymectomy
prognosis of MG
neonatal resolves in 1-3 weeks; juvenile- remission of sx can be as high as 60% after thymectomy
hgb and age
hgb is high at birth and normally declines, reaching nadir between 2 and 3 mos of age in the term infant and between 1 and 2 mos in the preterm infant
fetal hemoglobin disappears by when?
by 6-9 month
usual percentage of RBCs that are retics
1%
two most common types of microcytic hypochromic anemia durign childhood
iron def anemia and beta thal trait
nutritional iron def most common in what two age groups?
9-24 mos and adolescent girls
spoon shaped nails
sign of anemia
increased free erythrocyte protoporphyrin
sign of anemia
iron is given with what to enhance absorption?
vit C
severe anemia can lead to
CHF, cardiac dilaton, shortness of breath, hepatosplenomegaly
characteristics of the thalasemmias
hemolysis that leads to incr bone marrow activity (and incr size of bones in the face, skull, and elsewhere)
alpha thal in what ethnicity
southeast asians
4 types of alpha thal
silent carrier (one deletion- asymp); a-thal mino (2 del- mild anemia); HbH dz (3 del- severe anemia at birth, w elevated Hgb Bart); hydrops (4 del- death)
2 types of beta thal
beta thal minor (1 del- mild asymp anemia); beta thal major (profound hemolytic anemia in infancy)
race for beta thal major
mediterranean
cooley’s anemai
aka beta thal major
clinical features of beta thal mjor
hematosplenomegaly, bone marrow hyperplasia, thalassemia facies (frontal bossing, skull deformities), delayed growth
lab findings in beta thal major
elevated serum iron, LDH; electrophoresis shows low or absent Hgb A and elevated Hgb F
treatment of beta thal major
lifelong transfusions and often splenectomy; bone marrow transplant is a potential option
complications of beta thal major
hemochromatosis, which is iron accum in various organs due to incr iron absorption in the intestines and infused RBCs
beta thal minor- sx?
asympt; no treatment
sideroblastic anemia
ring sideroblasts in the bone marrow; result from accum of iron in mitochondria of RBC precursors
how do you get sideroblastic anemia?
may be inherited or acquired by drugs/toxins
other causes of microcytic hypochromic anemia
lead poisoning and chronic disease like malignancy or infection
two causes of macrocytic anemias
folic acid and vit b 12 def
exclusive feedings with goat milk can cause what?
folic acid def
how is vit B12 absorbed?
must combine with intrinsic factor secreted by the gastric parietal cells; absorption then occurs in the terminal ileum
clinical features of b12 def
signs of anemia, smooth red tongue, and neuro manifestations
treatment of b12 def
monthyl IM vit B12 injections
causes of normocytic normochromic anemias
hemolytic anemias, red cell aplasias, and sickle cell anemia
most common inherited abnormality of the RBC membrane
hereditary spherocytosis (northern european most common)
etiology for hereditary spherocytosis
aut dom; defect in spectrin that causes rbc to be spherical
clinical features of hereditary spheroctyosis
hemolytic anemia, so splenomegaly, pigmentary gallstones, and aplastic crises (esp associated with parvovirus)
lab finding in hereditary spherocytosis
abnormal RBC fragility with osmotic fragility studies
management of hereditary spherocytosis
blood transfusion; splenectomy delayed until 5 years of age
why is splenectomy delayed until 5 yo?
to decr infections with encapsulated bacteria
hereditary elliptocytosis
aut dom; defect in spectrin also; may or may not result in hemolysis; most patients are asympy
two examples of glycolytic enzymatic defects of RBCs
pyruvate kinase def and G6PD def
pyruvate kinase def
aut recessive; leads to ATP depletion and decr RBC survival
blood smear for pyruvate kinase def
polychromatic RBCs
management of PK def
transfusion and splenectomy
most common RBC enzymatic def
G6PD def;
G6PD def
may occur in acute hemolytic disease or induced by infection or meds;
pathophys of G6PD def
RBC is not protected from oxidative stress; so anything from infection to fava beans to drugs can cause hemolysis; sx occur 24-48 hrs after exposure;
lab findings in G6PD def
hemoglobinuria, incr retics, smear shows bite cells and hemighosts; heniz bodies
treatment for G6PD def
transfusions needed; splenectomy not beneficial
autoimmune hemolytic anemia
fulminant acute type can be preceded by a resp infection; prolonged type AHA is prolonged and prob underlying disease
prognosis for acute and prolonged AIHA?
acute is good prognosis and prolonged is high mortality
coomb’s test
detects coating of antibodies on the surface of RBCs or complement
direct coombs result for AIHA
pos
management of AIHA
corticoseroids, transfusion
alloimmune hemolytic anemia
newborn Rh and ABO hemolytic anemia
ABO alloimmune hemolytic anemia
can occur in the first pregnancy, unlike Rh
coombs for ABO and Rh alloimmune anemia
coombs strongly pos in Rh, weakly pos in ABO
microangiopathic hemolytic anemia
caused by passage through injured vessels; RBC fragments
causes of microgiopathic hemolytic anemia
severe hypertension, hemolytic uremic syndrome; artificial heart valves; DIC
lab findings for microangiopathic hemolytic anemia
RBC fragments (burr cells), target cells, irreg shaped cells, and thrombocytopenia
cause of sickle cell disease
glutamic acid changes to valine on beta globin chain of HgB; results in stacking of HgB when RBC is exposed to low ox
Sickle cell trait symptoms?
usually asymp without anemia, unless exposed to severe hypoxemia
leading cause of death from sickle cell disease
infection as a result of decr splenic function;
encapsulated bacteria
H. flu; Strep pneumonia; salmonella; neisseria meningitidis
osteomyelitis in sickle cell disease
painful bone crisis; infection caused by salmonella acquired through the GI traact, though staph aureus can also cause it
target cells
decr hemoglobin content means the volume is smaller, so there is a greater SA to volume ratio that causes the target cell shape
howell-jolly bodies
indicates a damaged spleen, since these inclusions (DNA) are normally removed by the spleen
preventative care for sickle cell disease
hydroxyurea increases Hgb F and decr vasooclusive crises; daily oral penicillin prophylaxis; daily folic acid; immunizations; serial transcranial or angiography to detect stroke
life expectancy for sickle cell patient
40s
sickle cell hemoglobin C disease
one hgb c and one hgb S; less severe than sickle cell disease
RBC aplasias
anemia, reticulocytopenia, and few RBC precursors in the bone marrow
three examples of RBC aplasias
Diamond-Blackfan anemia (congenital hypoplastic anemia); transient erythroblastopenia of childhood; and parvovirus B19- associateed red cell aplasia
pancytopenia
bone marrow failure with decreased RBCs, leukocytes, and platelets
fanconi anemia
congenital aplastic anemia
genetic of fanconi anemia
aut recessive
clinical features of fanconi anemia
onset of BM failure at mean age 7 yo; ecchymosis and petechiae; skeletal abnormalities; skin hyperpigmentation, renal abnormalities
skeletal abnormalities in pancytopenia
short stature, absence or hypoplasia of the thumb and radius
Lab findings in congenital aplastic anemia
pancytopenia, RBC macrocytosis, low retics, elevated Hgb F, and bone marrow hypocellularity
treatment of congenital aplastic anemia
transfusions and BM transplant
acquired aplastic anemia causes
drugs, infections, chemicals, radiation, idiopathic
clinical features of acquired aplastic anemia
bruising, petechiae, pallor, or serious infection as a result of neutropenia
polycythemia
hematocrit over 60%
cause of primary polycythemia
polycythemia vera- a malignancy
secondary polycythemia cause
increased EPO
causes of approp increase in EPO
hypoxemia as a result of congenital heart disease (this is the most common cause of polycythemia in kids!), pulm disease, or high altitude
inapprop causes of incr EPO
tumors of kidney, cerebellum, ovary, liver, and adrenal gland; excess hormone production (steroids, GH, androgens), and kidney abnormalities like hydronephrosis
clinical features of polycythemia
ruddy facial complexion with normal size liver and spleen
most common cause of relative polycythemia
dehydration
complicaitons of polycythemia
thromboiss and bleeding
difference between congenital hypoplastic anemia (diamond-blackfan) and transient erythroblastopenia of childhood
diamond-blackfan is aut recess and TEC is post-viral autoimmune; D-B needs transfusion/BMT and TEC has spontaneous recovery
anemia due to parvovirus b19
associated URI sx; anemia generally not symptomatic; spontaneous recovery in a few weeks
hemarthroses
bleeding into joint spaces
two factor VIII disorders
vWF and hemophilia A
hemophophilia
defect in factor VIII procoagulant activity; prolongs aPTT but not PT
vWD
factor VIII variable but platelet function is defective; prolonged aPTT, normal PT; prolonged bleeding time; platelet COUNT normal
von willebrands factor
substance necessary for platelet adhesion to blood vessel walls
hemophilia A inheritance
x-linked
clinical features of hemophilia A
hemarthroses, deep soft tissue bleeds;
treatment for hemophilia
replacement of factor VIII; DDAVP may cause the release of stored factor VIII from patient’s own cells
most common hereditary bleeding disorder
von willebrand’s disease
3 types of von willebrand disease
type 1 (classic)- mild quantitative deficiencies in factor VIII and vWF; type 2- qualitative abnormality in vWF; type 3- absence of vWF (most severe)
hemarthroses in vwf?
unusual
ristocetin cofactor assay
quanititative assay for vWF activity; diagnositc ofvWD
management of vwD
DDAVP induces vWF release from endothelial cells (can be used for prophylaxis too); cryoprecipitate, which contains intact vWF
hemophilia B
factor IX def; aka christmas disease; x-linked disorder
vit K def is essential for synthesis of what factors?
2, 7, 9, and 10, and proteins C and S
etiology of vit K def
pancreatic insuff, biliary obstruction, diarrhea; dietary def is rare; medications; hemorrhagic disease of the newborn
medications that interfere with vit K metabolism
cephalasporins, rifampin, isoniazid, and warfarin; these cause vit K def
