peds32 Flashcards
(200 cards)
1
Q
clinical features of absence epilepsy of childhoo
A
absence seizures lasting 5-10 sec; occur hundreds of times per day; important: loss of posture, urinary incont, and postictal state do not occur
2
Q
absence seizures on ee
A
generalized spike and wave discharge arising from both hemispheres
3
Q
management of sbsence seizures
A
ethosuximide (first line) or valproic acid
4
Q
prognosis for absence seizures
A
very good; seizures usually resolve by adolescence
5
Q
benign rolandic epilepsy
A
aka benign centrotemporal epilepsy; nocturnal partial seizures with secondary generalization
6
Q
most common partial epilepsy durign childhood
A
benign rolandic epilepsy
7
Q
what age for benign rolandic seizures?
A
3-13 yo; boys are more likely to be affected
8
Q
inheritance of benign rolandic seizures
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aut dom, with variable penetrance
9
Q
clinical features of benign rolandic epilepsy
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early morning seizures with oral-buccal manifestations; seizures spread and become tonic-clonic
10
Q
benign rolandic epilepsy on EEG
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biphasic spike and sharp wave disturibance in the midtemporal and central regions
11
Q
treatment fo rbenign rolandic seizures
A
valproic acid of carbamazepine
12
Q
prognosis for benign rolandic seizures
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excellent; seizures remit spontaneously during adolescence
13
Q
throbbing or pounding headache
A
suggests migraine
14
Q
aching feeling of pressure in the headache
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suggests tension
15
Q
unilateral headache that starts in the periorbital area and spreads to the forehead and occiput
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migraine
16
Q
generalized or bitemporal headaches
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tension headaches
17
Q
headaches in the morning
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from incr ICP
18
Q
headaches at night
A
tension headaches
19
Q
most common cause of headaches in kids
A
migraines
20
Q
inheritance of migaines
A
aut dom
21
Q
what is the pathophys of migraines?
A
changes in cerebral blood flow secondary to release of serotonin, substance P, and vasoactive intestinal peptide from changes in neuronal activity
22
Q
most common form of migraine in kids? (w or wo aura?)
A
without
23
Q
migraine equivalent
A
no headache but transient vomitting, abdom pain, or vertigo
24
Q
ophthalmoplegic migraine
A
unilateral ptosis or CN III palsy accompanies headache
25
basilar artery migraine
vertigo, tinnitus, ataxia, or dysarthria preceding the onset of headache
26
abortive treatment for migraines
sumatriptan (selective seratonin agonist)
27
prophylactic treatment for migraines
propranolol
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prognosis for migraines
waxing and waning but often lifelong disorder
29
tension headaches age
extremely rare in kids less than 7; uncommon in childhood altogether
30
isometric contraction of the temporalis, masseter, or trapezius muscle often accompanies the headache
tension headache
31
treatment for tension headaches
reassurance and pain control, stress and anxiety reduction
32
cluster headaches
unilateral frontal or facial pain, accompanied by conjunctival erythema, lacrimation, and nasal congestion
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cluster headaches in childhood?
rare
34
treatment for cluster headaches
abortive therapy with oxygen or sumatriptan. Prophylactic treatment includes CCBs and valproic acid
35
ataxia
inability to coordinate muscle activity during voluntary movement; causesd by cerebellar or proprioceptive dysfunction
36
acute cerebellar ataxia
unsteady gait 2/2 a presumed autoimmune or postinfectious cause
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most common cause of ataxia in kids
acute cerebellar ataxia
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age for acute cerebellar ataxia
18 month to 7 years; rarely after age 10
39
common preceding infections for acute cerebellar ataxia are?
varicella, influenza, EBV, and mycoplasma; ataxia usually follows 2-3 weeks later
40
cause of acute cerebellar ataxia
immune complex deposition in the cerebellum
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clinical features of acute cerebellar ataxia
truncal ataxia, slurred speech, nystagmus, fever is absent
42
treatment of acute cerebellar ataxia
supportive; complete resolution in 2-3 months
43
guillain-barre syndrome
acute inflamm demyelinating polyneuropathy
44
most common associated infectiuous agent in guillain barre
campylobacter jejuni (prodromal gastroenteritis)
45
principle sites of demyelination in G-B
ventral spinal roots and peripheral myelinated nerves
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pathophys of G-B
cell mediated immune response to an infectious agent that cross reacts to Schwann cell membrane
47
clinical features of G-B
asceniding symmetric paralysis; no sensory loss; CN involvement (facial weakness)
48
miller-fisher syndrome
variant of G-B; characterized by ophthalmoplegia, ataxia, and areflexia
49
dx of G-B
LP shows albuminocytologic dissociation, which is evident 1 week after sx onset
50
albuminocytologic dissoc
elevated CSF protein in the absence of elevated cell count
51
EMG for G-B
decr nerve conduction velocity or conduction block
52
dx G-B in kids less than 3
do spinal MRI, since their sensory exam is difficult to do
53
treatment of G-B
IVIG for 2-4 days; plasmapharesis over a 4-5 day period
54
prognosis for G_B
complete recovery is the rule in kids
55
sydenham chorea
St. Vitus' dance; autoimmune disorder associated with rheumatic feverthat presents with chorea and emotional lability
56
is syndenham chorea common?
well it occurs in a quarter of people with rheumatic fever
57
onset age for syndenham chorea
5 and 13 yo
58
pathophys of syndenham chorea
antibodies cross react with membrane antigens on both group A strep and basal ganglia cells
59
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
60
chameleion tongue
in syndenham chorea; unable to sustain protrusion of the tongue
61
choreic hand
hand flexed and hyperextended at metacarpal joints
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milkmaid's grip
on gripping the examiner's hand, the patient cannot maintain the grip
63
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
64
treatment of sydenham chorea
haloperidol, valproic acid, or phenobarbitol
65
prognosis of syndenham chorea
sx last for several months to 2 year; generally all patients recover
66
tourette syndrome
chronic, lifelong disorder with motor and phonic tics; presents before 18 yo
67
tics in tourettes
must be present for at least 1 year
68
coprolalia
uttering obscene words
69
associated findings in tourettes
learning disabilities; ADHD; ocd
70
management of tourettes
pimozide (drug of choice), clonidine (side effect is sedation), haloperidol (risk of tardive dyskinesia), hypnotherapy
71
prognosis of tourettes
tics decr in adulthood; drugs generally successful
72
duchenne and becker muscular dystrophies
both are x-linked myopathies characterized by motor degeneration
73
clonidine
alpha 2 ag; used to treat htn
74
which is more severe- duchenne or becker MD?
duchenne
75
onset of musc dystrophy sx?
between 2 and 5 yo
76
genetics of DMD and BMD
x linked; deletion in the dystrophin gene
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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
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pathology of DMD and BMD
degen and regen of muscle fibers; replacement of muscle with fibroblasts and lipid depositis; infiltration of lymphocytes
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clinical features of DMD and BMD
slow progressive weakness affecting legs first; pseudohypertrophy of calves; gower's sign; cardiac involvement
80
when do kids lose ability to walk in DMD? In bmd?
dmd by ten years; bmd by 20 yo or laer
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gower's sign
weakness of pelvic muscles, so when kids get up from the floor, they extend each leg and climb up each thigh
82
cognitive impairment in musc dystrophy?
mild in DMD but normal intelligence in BMD
83
diagnosis of muscular dystrophy
large calf muscles with weakness; CK levels are very high; muscle biopsy
84
management of muscular dystrophy
no cure but oral steroids can help improve strength a little
85
life expectancy for DMD? For BMD?
DMD- late teens; BMD- into their 50
86
myasthenia gravis
autoimmune that presents w progressive weakness
87
pathophys of myasthenia gravis
antibodies to Ach receptor at NMJ
88
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
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MG in girls vs boys
juvenile MG is 6x more common in girls than boys
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most common presenting sign in juvenile MG
bilateral ptosis
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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
92
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
93
treatment for MG
cholinesterase inhib or IVIG in neonatal; in juvenile, cholinesterase inhib and immunotherapy
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cholinesterase inhib used for MG
pyridostigmine bromide
95
immunotherapy for MG
corticosteroids used with cholinesterase inhib fail; plasmapheresis; IVIG; thymectomy
96
prognosis of MG
neonatal resolves in 1-3 weeks; juvenile- remission of sx can be as high as 60% after thymectomy
97
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
98
fetal hemoglobin disappears by when?
by 6-9 month
99
usual percentage of RBCs that are retics
1%
100
two most common types of microcytic hypochromic anemia durign childhood
iron def anemia and beta thal trait
101
nutritional iron def most common in what two age groups?
9-24 mos and adolescent girls
102
spoon shaped nails
sign of anemia
103
increased free erythrocyte protoporphyrin
sign of anemia
104
iron is given with what to enhance absorption?
vit C
105
severe anemia can lead to
CHF, cardiac dilaton, shortness of breath, hepatosplenomegaly
106
characteristics of the thalasemmias
hemolysis that leads to incr bone marrow activity (and incr size of bones in the face, skull, and elsewhere)
107
alpha thal in what ethnicity
southeast asians
108
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)
109
2 types of beta thal
beta thal minor (1 del- mild asymp anemia); beta thal major (profound hemolytic anemia in infancy)
110
race for beta thal major
mediterranean
111
cooley's anemai
aka beta thal major
112
clinical features of beta thal mjor
hematosplenomegaly, bone marrow hyperplasia, thalassemia facies (frontal bossing, skull deformities), delayed growth
113
lab findings in beta thal major
elevated serum iron, LDH; electrophoresis shows low or absent Hgb A and elevated Hgb F
114
treatment of beta thal major
lifelong transfusions and often splenectomy; bone marrow transplant is a potential option
115
complications of beta thal major
hemochromatosis, which is iron accum in various organs due to incr iron absorption in the intestines and infused RBCs
116
beta thal minor- sx?
asympt; no treatment
117
sideroblastic anemia
ring sideroblasts in the bone marrow; result from accum of iron in mitochondria of RBC precursors
118
how do you get sideroblastic anemia?
may be inherited or acquired by drugs/toxins
119
other causes of microcytic hypochromic anemia
lead poisoning and chronic disease like malignancy or infection
120
two causes of macrocytic anemias
folic acid and vit b 12 def
121
exclusive feedings with goat milk can cause what?
folic acid def
122
how is vit B12 absorbed?
must combine with intrinsic factor secreted by the gastric parietal cells; absorption then occurs in the terminal ileum
123
clinical features of b12 def
signs of anemia, smooth red tongue, and neuro manifestations
124
treatment of b12 def
monthyl IM vit B12 injections
125
causes of normocytic normochromic anemias
hemolytic anemias, red cell aplasias, and sickle cell anemia
126
most common inherited abnormality of the RBC membrane
hereditary spherocytosis (northern european most common)
127
etiology for hereditary spherocytosis
aut dom; defect in spectrin that causes rbc to be spherical
128
clinical features of hereditary spheroctyosis
hemolytic anemia, so splenomegaly, pigmentary gallstones, and aplastic crises (esp associated with parvovirus)
129
lab finding in hereditary spherocytosis
abnormal RBC fragility with osmotic fragility studies
130
management of hereditary spherocytosis
blood transfusion; splenectomy delayed until 5 years of age
131
why is splenectomy delayed until 5 yo?
to decr infections with encapsulated bacteria
132
hereditary elliptocytosis
aut dom; defect in spectrin also; may or may not result in hemolysis; most patients are asympy
133
two examples of glycolytic enzymatic defects of RBCs
pyruvate kinase def and G6PD def
134
pyruvate kinase def
aut recessive; leads to ATP depletion and decr RBC survival
135
blood smear for pyruvate kinase def
polychromatic RBCs
136
management of PK def
transfusion and splenectomy
137
most common RBC enzymatic def
G6PD def;
138
G6PD def
may occur in acute hemolytic disease or induced by infection or meds;
139
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;
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lab findings in G6PD def
hemoglobinuria, incr retics, smear shows bite cells and hemighosts; heniz bodies
141
treatment for G6PD def
transfusions needed; splenectomy not beneficial
142
autoimmune hemolytic anemia
fulminant acute type can be preceded by a resp infection; prolonged type AHA is prolonged and prob underlying disease
143
prognosis for acute and prolonged AIHA?
acute is good prognosis and prolonged is high mortality
144
coomb's test
detects coating of antibodies on the surface of RBCs or complement
145
direct coombs result for AIHA
pos
146
management of AIHA
corticoseroids, transfusion
147
alloimmune hemolytic anemia
newborn Rh and ABO hemolytic anemia
148
ABO alloimmune hemolytic anemia
can occur in the first pregnancy, unlike Rh
149
coombs for ABO and Rh alloimmune anemia
coombs strongly pos in Rh, weakly pos in ABO
150
microangiopathic hemolytic anemia
caused by passage through injured vessels; RBC fragments
151
causes of microgiopathic hemolytic anemia
severe hypertension, hemolytic uremic syndrome; artificial heart valves; DIC
152
lab findings for microangiopathic hemolytic anemia
RBC fragments (burr cells), target cells, irreg shaped cells, and thrombocytopenia
153
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
154
Sickle cell trait symptoms?
usually asymp without anemia, unless exposed to severe hypoxemia
155
leading cause of death from sickle cell disease
infection as a result of decr splenic function;
156
encapsulated bacteria
H. flu; Strep pneumonia; salmonella; neisseria meningitidis
157
osteomyelitis in sickle cell disease
painful bone crisis; infection caused by salmonella acquired through the GI traact, though staph aureus can also cause it
158
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
159
howell-jolly bodies
indicates a damaged spleen, since these inclusions (DNA) are normally removed by the spleen
160
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
161
life expectancy for sickle cell patient
40s
162
sickle cell hemoglobin C disease
one hgb c and one hgb S; less severe than sickle cell disease
163
RBC aplasias
anemia, reticulocytopenia, and few RBC precursors in the bone marrow
164
three examples of RBC aplasias
Diamond-Blackfan anemia (congenital hypoplastic anemia); transient erythroblastopenia of childhood; and parvovirus B19- associateed red cell aplasia
165
pancytopenia
bone marrow failure with decreased RBCs, leukocytes, and platelets
166
fanconi anemia
congenital aplastic anemia
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genetic of fanconi anemia
aut recessive
168
clinical features of fanconi anemia
onset of BM failure at mean age 7 yo; ecchymosis and petechiae; skeletal abnormalities; skin hyperpigmentation, renal abnormalities
169
skeletal abnormalities in pancytopenia
short stature, absence or hypoplasia of the thumb and radius
170
Lab findings in congenital aplastic anemia
pancytopenia, RBC macrocytosis, low retics, elevated Hgb F, and bone marrow hypocellularity
171
treatment of congenital aplastic anemia
transfusions and BM transplant
172
acquired aplastic anemia causes
drugs, infections, chemicals, radiation, idiopathic
173
clinical features of acquired aplastic anemia
bruising, petechiae, pallor, or serious infection as a result of neutropenia
174
polycythemia
hematocrit over 60%
175
cause of primary polycythemia
polycythemia vera- a malignancy
176
secondary polycythemia cause
increased EPO
177
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
178
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
179
clinical features of polycythemia
ruddy facial complexion with normal size liver and spleen
180
most common cause of relative polycythemia
dehydration
181
complicaitons of polycythemia
thromboiss and bleeding
182
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
183
anemia due to parvovirus b19
associated URI sx; anemia generally not symptomatic; spontaneous recovery in a few weeks
184
hemarthroses
bleeding into joint spaces
185
two factor VIII disorders
vWF and hemophilia A
186
hemophophilia
defect in factor VIII procoagulant activity; prolongs aPTT but not PT
187
vWD
factor VIII variable but platelet function is defective; prolonged aPTT, normal PT; prolonged bleeding time; platelet COUNT normal
188
von willebrands factor
substance necessary for platelet adhesion to blood vessel walls
189
hemophilia A inheritance
x-linked
190
clinical features of hemophilia A
hemarthroses, deep soft tissue bleeds;
191
treatment for hemophilia
replacement of factor VIII; DDAVP may cause the release of stored factor VIII from patient's own cells
192
most common hereditary bleeding disorder
von willebrand's disease
193
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)
194
hemarthroses in vwf?
unusual
195
ristocetin cofactor assay
quanititative assay for vWF activity; diagnositc ofvWD
196
management of vwD
DDAVP induces vWF release from endothelial cells (can be used for prophylaxis too); cryoprecipitate, which contains intact vWF
197
hemophilia B
factor IX def; aka christmas disease; x-linked disorder
198
vit K def is essential for synthesis of what factors?
2, 7, 9, and 10, and proteins C and S
199
etiology of vit K def
pancreatic insuff, biliary obstruction, diarrhea; dietary def is rare; medications; hemorrhagic disease of the newborn
200
medications that interfere with vit K metabolism
cephalasporins, rifampin, isoniazid, and warfarin; these cause vit K def
