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Peds Flashcards

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1
Q

Newborn respiratory distress ddx w/ path, presentation, dx, tx

A

Transient tachypnea:
Mild edema
Tachypnea through first 2 days
XR: bilateral perihilar streaking

Respiratory distress syndrome:
Surfactant insufficiency 2/2 premature birth & maternal diabetes*
Severe cyanosis, grunting, flaring
XR: diffuse opacities
Antenatal glucocorticoids

Pulmonary HTN:
Resulting in R-L shunting
Severe cyanosis
XR: clear

Meconium aspiration:
Non-clear amniotic fluid, usually term or post-term

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2
Q

Torticollis path, presentation, dx

A

Twisting neck to L or R
2/2: respiratory infection, retropharyngeal abscess, or neck trauma

Neck XR: to rule out C-spine fx or dislocation

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3
Q

Hirschprung’s disease path, association, presentation, dx, tx

A

Failure of neural crest migration ==> aganglionic colon ==> failure to relax

Down’s syndrome

Failure to pass stool for 24+ hours post birth

XR: obstruction
Squirt sign: rectal exam produces stool EXPLOSION
Barium enema: narrow distal colon with proximal dilation
Biopsy: REQUIRED ==> showing no ganglion

Surgical

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4
Q

Meconium ileum path, association, presentation, dx, tx

A

Thickened meconium (usually 2/2 CF) causes impaction in ileum

Failure to pass stool for 24+ hours post birth

No squirt sign
More proximal (ileum) transition point
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5
Q

Pyoric stenosis path, presentation, dx, tx

A

Pyloric stenosis

Non-bilous vomiting
3-5 weeks post birth
Palpable “olive” mass in RUQ
Visible peristaltic wave

Hypochloremic, hypokalemic metabolic alkalosis 2/2 vomit
Ultrasound: long, thick pylorus

CORRECT METABOLIC DERANGEMENTS*==> surgical repair

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6
Q

Foreign body aspiration anatomy, presentation, dx, tx*

A

Airway anterior to esophagus ==> usually lands in R mainstem bronchus

Airway: stridor, wheeze, cough, hyperinflation ==> rigid bronchoscopy (*XR may not show foreign body if radiolucent)

Esophagus: vomiting, cough, dysphagia, feeding refusal ==> flexible endoscopy*

Distal to esophagus: observe patient until it passes spontaneously*

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7
Q

Child abuse presentation, management

A

History: vague, implausible, sibling implicated, mental handicapped children
PE: injury to genitals, hands, back, buttocks; late-healing wounds; spiral fractures of humerus and femur; epiphyseal-metaphyseal “bucket” fractures; posterior rib fractures; retinal hemorrhage 2/2 “shaken baby syndrome” (non-con head CT too); Mongolian spots are NOT abuse
Caregiver: argumentative, late-presenting

  1. Full body examination
  2. CBC and X-rays
  3. CPS if concerned
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8
Q

Parent refusing vaccines approach*

A

Provide recommendation
*Document risk vs benefits discussion in chart
No further workup needed because HERD IMMUNITY still exists

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9
Q

Selective mutism dx*, ddx

A

Total refusal to engage others in specific setting despite normal behavior at home

Stranger anxiety: stops at age 3
Separation anxiety: 3+ signs of extreme distress when separated from loved one

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10
Q

When to get a court order*

A

Parents refusing treatment for non-emergent but potentially fatal condition (e.g. ALL)

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11
Q

Congenital heart disease ddx, associated risk factors/diseases

A

Cyanotic R-L shunts
Acyanotic L-R shunts

PDA:  rubella
Coarctation:  Turner's
Coronary aneurysm:  Kawasaki's
Heart block:  lupus
Supravalvular aortic stenosis:  william's
Ebstein's RV malformation:  lithium
Heart failure:  neonatal thyrotoxicosis
Septal hypertrophy:  maternal DM
Transposition:  maternal DM
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12
Q

Cyanotic heart defects path, ddx, presentations, dx, tx

A 
5T's
Truncus arteriosus
Transposition:  severe cyanosis @ birth (only one)
Tricuspid atresia
Tetralogy of fallot
Total anomalous pulmonary venous return
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13
Q

Noncyanotic heart defects ddx, path, presentations, dx, tx

A

3D’s ==> L-R shunt

  1. VSD:
    Down’s/fetal alcohol/TORCH etc.
    Small: harsh holosystolic @ LLSB
    Large: respiratory infection, CHF; softer holosystolic
    Dx: echo
    Tx: small ones close; surgery for severe or non-resolving
  2. ASD
    Fetal alcohol, Down’s
    Usually asymptomatic; sometimes respiratory infections
    Ostium primum: presents early in childhood
    WIDE, FIXED, SPLIT S2
    Dx: echo
    Tx: small ones close; surgery for severe
  3. PDA
    L-R shunt from aorta to pulmonary artery 2/2 rubella, prematurity
    Machine murmur @ 2nd L intercostal; wide/bounding pulses
    Dx: echo
    Tx: Indomethacin ==> surgery if >6 months
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14
Q

Eisenmanger’s path, presentation, dx, tx

A

Reversal of L-R shunt 2/2 pulmonary HTN

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15
Q

Coarctation of aorta path, presentation, dx, tx

A

Constriction of aorta, usually proximal to PDA in infants
2/2 Turner’s
Often w/ bicuspid aorta

UE systolic > LE
Murmur over scapulae

3 sign: CXR showing pre & post dilation (looks like a 3)
Rib notching 2/2 collateral circulation
Dx: echo

Infants: MAINTAIN PDA!!! ==> prostaglandin E1

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16
Q

Transposition of great vessels path, association, presentation, dx, tx

A

Aorta:RV & PA:LV ==> incompatible with life without ASD, VSD, or PDA
Often 2/2 diabetic mothers

Severe cyanosis (@ birth! earliest presenter)

CXR: egg shaped silhouette
Dx: echo

Prostaglandin E1
Balloon atrial septostomy and/or sugery

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17
Q

DiGeorge syndrome path, presentation, dx, tx

A

Congenital…

"CATCH-22"
Cardiac:  transposition of great vessels
Abnormal facies
Thymic aplasia
==>virus, fungi, PCP infection
==>XR absent thymic shadow
==>bone marrow transplant + IVIG
Cleft palate
Hypocalcemia
==> tetany at birth
22q11 deletion
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18
Q

Tetralogy of fallot path, associations, presentation, dx, tx

A

4 things: pulmonary stenosis, VSD, RVH, “overriding aorta” (receives RV and LV blood) ==> cyanotic R-L shunt
Often 2/2 DiGeorge, maternal PKU

Cyanosis within 2 years of life
“Tet spells”: squatting for relief to increase SVR

CXR: boot-shaped heart
Dx: echo

PGE-1 ==> surgery

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19
Q

Milestones: motor, language, social

A

2 months: social smile
4 months: rolls front-back; laughs
6 months: sits; babbles; stranger anxiety
12 months: walks; 1 word; separation anxiety
2 years: walks stairs; 2 word phrases
3 years: tricycle; 3 word sentences

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20
Q

Infant weight patterns through 2 years; failure to thrive (FTT) ddx

A

May lose 10% at birth
Should return to birthweight by 2 weeks
Double birthweight by 6 months
Quadruple birthweight by 2 years

Organic: underlying medical condition
Inorganic: maternal depression, neglect abuse

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21
Q

Precocious / delayed puberty ages; gender growth phases

A

Girls: 13
Boys: 14

Girls: thelarche (boobs) ==> pubarche ==> growth spurt ==> menarche
Boys: gonadarche (nuts) ==> pubarche ==> adrenarche (hair) ==> growth spurt

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22
Q

Down’s path, associated diseases*, presentation

A

Nondisjunction (95%), Robertsonian (4%)

GI: duodenal atresia, Hirschprung’s
Cardiac: AV canal; ASD, VSD, PDA
ALL & Alzheimers
MSK: atlantoaxial instability ==> cord compression causing upper motor neuron dysfunction*

Upslanted eyes; simian crease; hypotonia

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23
Q

Edward’s syndrome path, presentation, prognosis

A

Trisomy 18

Severe retardation
Micrognathia (small jaw) 
Rocker-bottom feet*
Clenched hands w/ overlapping 4/5 digits*
Heart disease (VSD*) 
Horseshoe kidney

Death by 12 months

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24
Q

Patau’s syndrome path, presentation

A

Trisomy 13

Micropthalmia (small eyes)
Microcephaly
Holosprocencephaly (single undivided brain lobe)
Polydactyly

Death by 12 months

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25
Kleinfelter's path, presentation, tx
47 XXY (Barr body X) Testicular atrophy Tall, lanky Gynecomastia (gay Jay Murphy) Testosterone
26
Turner's syndrome path, presentation
45 XO Ovarian dysgenesis (primary amenorrhea) Coarctation / bicuspid aortic valve Hand/foot lymphedema
27
47 XYY
Tall acne prisonmates
28
Phenylketonuria path, presentation, tx
Autosomal recessive enzyme deficiency ==> phenylalanine buildup ==> tyrosine becomes essential to diet Retard with blond hair and blue eyes Increase tyrosine and decrease phenylalanine in diet
29
Fragile X syndrome path, presentation
X-linked dominant Mental retardation Large jaw, testes, ears Autistic
30
Fabry's disease path, presentation
X-linked recessive alpha-galactosidase A deficiency ==> ceramide trihexoside accumulation in heart, brain, kidneys Severe limb pain Telangiectasias Renal failure Thromboembolic risk
31
Krabbe's disease path, presentation
Autosomal recessive enzyme defiency ==> galactocerebroside accumulation in brain CNS degeneration ==> death by 3
32
Gaucher's disease path, presentation, dx
Autosomal recessive glucocerebrosidase defiency ==> glucocerebroside accumulation in brain, liver, spleen, bone Anemia Thrombocytopenia "Crinkled paper cells"
33
Niemann-Pick path, presentation
Autosomal recessive sphingomyelinase deficiency ==> sphingomyelin accumulation Cherry-red spot Hepatosplenomegaly
34
Tay-Sach's path, presentation
Absent hexosaminidase ==> GM2 ganglioside accumulation Jews Cherry red spot without hepatosplenomegaly Regression beginning at 3 months ==> weakness and death by age 3
35
Metachromatic leukodystrophy path, presentation
Autosomal recessive aryl-sulfataste A deficiency ==> sulfatide accumulation in brain ==> demyelination Ataxia and dementia
36
Hurler's syndrome path, presentation
Autosomal recessive alpha-iduronidase deficiency Corneal clouding Gargoylism Mental retardation
37
Hunter's syndrome
X-linked recessive iduronate sulfatase deficiency Milder than Hurler's No corneal clouding
38
Cystic fibrosis path, presentation, dx, tx
Autosomal recessive chromosome 7 CFTR chloride channel dysfunction ==> widespread exocrine dysfunction Failure to thrive Pulmonary: Psuedomonas & S. aureas pneunomia, nasal polyps GI: Greasy stools, *meconium ileus (bilious vomiting), fat-soluble vitamin deficiency (ADEK) Endocrine: type 2 DM, male infertility Chloride sweat test > 60 ==> genetic test to confirm PT, bronchodilators, corticosteroids, antibiotics covering Pseudomonas Pancreatic enzymes Fat soluble vitamins (ADEK) High-calorie diets
39
Intussusception path, presentation, dx, tx
Telescoping bowel, often proximal to ileocecal valve ``` Bowel obstruction TRIAD: Abdominal pain Vomiting Bloody "currant jelly" stool SAUSAGE-SHAPED RUQ mass ``` XR: not sensitive Ultrasound: Target sign Air-contrast barium enema (diagnostic and therapeutic) ==> surgery if failed
40
Pyloric stenosis associations, presentation, dx, tx
Firstborn males Tracheoesophageal fistula Erythryomycin Nonbilious vomit Olive-shaped epigastric mass Hypochloremic, hypokalemic, metabolic alkalosis (2/2 vomiting) Abdominal ultrasound Surgery
41
Meckel's diverticulum path, presentation, dx, tx
Vestigial remnant containing gastric and pancreatic tissue ==> causing ulcer and bleeding Sudden, painless rectal bleeding Progressing to obstruction, intussusception RULE OF 2'S s technetium scintigraphy scan Surgical excision
42
Malrotation with volvulus*
Midgut malrotation ==> cecum misalignment and Ladd's bands causing obstruction and ischemia Bilious emesis Bloody stool XR: "bird-beak" +/- air fluid levels Upper GI: diagnostic Surgery
43
Necrotizing enterocolitis path, presentation*, dx, tx
Necrotizing bowel Usually pre-term infants Presenting in days-weeks post-birth Bloody stools & vomiting Rapid progression to sepsis and peritonitis XR: pneumatosis intestinalis (bacterial gas bubbles in bowel wall) Surgery and broad spectrum abx
44
Bruton's agammaglobulinemia path, presentation, dx, tx
X-linked recessive (boy's only) B-cell deficiency Boys only after 6 months (when mother's IgG wanes) Life-threatening encapsulated infections (Pseudomonas, Strep, Haemophilus) Absent tonsils Quantitative IG levels High T-cell levels IVIG Prophylactic antibiotics
45
Common variable immunodeficiency path, presentation, dx, tx
Combined B & T cell defect Presenting 15-35 y/o Pyogenic upper and lower respiratory infections Risk of lymphoma and autoimmune disease Quantitative IG levels IVIG
46
IgA deficiency path, presentation, dx, tx
IgA deficiency Mild sx Mild recurrent respiratory of GI infection *Anaphylaxis to transfusion rxn 2/2 IgA antigbodies Quantitative IgA levels NO IVIG ==> anaphylaxis Treat infections
47
SCID severe combined immunodeficiency path, presentation, dx, tx
Low adenosine deaminase ==> severe T & B cell lack Severe infections w/ PCP, candida, herpes Lymphopenia Bone marrow transplant IVIG Sterile confinement
48
Wiskott-Aldrich syndrome path, presentation*, dx*, tx
X-linked recessive (males only) ==> low IgM and high IgE / IgA ``` "WIPE" Wiskott INFECTION: otitis media, encapsulated (S pneumonia, S aureus, H Influenza B) PUPURA: thrombocytopenia ==> bleeding ECZEMA ```
49
Chronic granulomatous disease path, presentation*, dx*, tx
CONGENITAL deficiency of NADPH superoxide dismutase ==> catalase + (S aureus, E. coli, Klebsiella, Aspergillus) Chronic skin, LN, pulm, GI, UTI, osteo, hepatitis Gram stain: bacteria-filled neutrophils Nitroblue tetrazolium test Low ANC Daily TMP-SMX
50
Leukocyte adhesion deficiency path, presentation, dx, tx
Chemotaxis defect Recurrent skin, mucosal, pulmonary infection Newborn: omphalitis and delayed cord separation Wounds: showing minimal pus and inflammation High WBC Bone marrow transplant
51
Chediak-Higashi path, presentation, dx, tx
Autosomal recessive neutrophil chemotaxis Recurrent pyogenic infection Oculocutaneous albinism Peripheral neuropathy Neutropenia Giant granules in neutrophil Bone marrow transplant
52
Job's syndrome path, presentation, dx, tx
Neutrophil chemotaxis defect ``` FATED Facies: coarse Abscess: S aureus Teeth: retained primaries IgE: elevated Dermatologic: eczema ``` Abx IVIG
53
C1 esterase deficiency path, presentation, dx, tx
Autosomal dominant angioedema Provoked by stress or trauma Life-threatening
54
Terminal complement deficiency path, presentation, dx, tx
Inability to form MAC Recurrent Neisseria, meningococcal, gonococcal
55
Kawasaki path, presentation, dx, tx
Multisystemic vasculitis Asians <5 ACUTE: CRASH & BURN ``` Conjunctivitis (unlike Scarlet fever) Rash (truncal) Adenopathy (unilateral) Strawberry tongue / chapped lips (unlike Scarlet fever) Hands/feet (erythema, desquamation) BURN: 104 fever 5+ days ``` SUBACUTE: Finger desquamation Coronary aneurysm CHRONIC: Coronary aneurysm MI Clinical Echo for aneurysm ASA (high tapering to low) IVIG to prevent aneurysm
56
Juvenile idiopathic arthritis path, presentation, dx, tx
Autoimmune 6+ weeks morning stiffness 5 joints ANA+ Systemic (Still's) Fever Salmon rash ANA - NSAIDs
57
Otitis media path, presentation, dx, tx
Middle ear cavity; S pneumonia, H influenza, Moraxella Ear pain Tugging ears Fever Otoscope: erythema, bulging, stiffness, loss of light reflex EMPIRIC amoxicillin high dose Tympanostomy if recording
58
Bronchiolitis path, presentation, dx, tx
RSV can progress to respiratory failure Clinical Supportive nebs
59
Croup laryngotracheal bronchitis path, presentation, dx, tx
Parainfluenza larynx / epiglottis inflammation Inspiratory stridor Barking cough Clinical XR: steeple sublottic narrowing Mist ==> IM steroids ==> IM epi
60
Epiglottitis path, presentation, dx, tx
Epiglottis infection ==> H. Influenza B (unvaccinated), Strep etc High fever Drooling Neck/chin forward Tripod inspiratory distress XR: thumbprint @ epiglottis Dx: direct visualization SECURE AIRWAY before XR
61
Bacterial meningitis path, presentation, dx, tx
Neonates: GBS, Listeria, E Coli Infants: S pneumonia, N meningitidis, H influenzae ``` Headache Fever Nuchal rigidity Kernig: pain w/ knee extension Brudzinki: passive flexion pain Neonates / children ==> rarely symptomatic! ``` LP: Neonates: amp & gent (or cefotaxime) [ceftriaxone causes kernicterus] Kids: vanc & ceftriaxone
62
Pertussis (whooping cough) path, presentation, dx, tx
Gram - bacillus Bordatella pertussis Catarrhal: mild URI x2 weeks Paroxysmal: cough, inspiratory whoop, post-cough emesis x2 months Infants: apnea Lymphocytes >70% Dx: Culture Erythromycin FOR ALL CONTACTS
63
Erythema infectiousum / 5th disease path, presentation, dx, tx
Parvo B19 Slapped cheek rash Rash spreading from arms ==> trunk Aplastic crisis (in pts with preexisting heme disease)
64
Measles path, presentation, dx, tx
Paramyxovirus ``` COUGH CORYZA CONJUNCTIVITIS Koplik spots (grey on lips) Rash head ==> toe Low fever ```
65
Rubella path, presentation, dx, tx
Rubella virus Lymphadenopathy (post-auricular) Rash head ==> toe Less severe than measles
66
Roseola infantum path, presentation, dx, tx
HHV6/7 High fever >104 Rash trunk ==> face Possibly seizure
67
Varicella path, presentation, dx, tx
Varicella VZV Fever Rash: pruritic, teardrop face ==> body (not palms/sole) Not infectious once crusting
68
APGAR scoring
0-2 for each ``` Appearance Pulse Grimace Activity Respiratory ``` ``` 8-10 = good 4-7 = may need resuscitation 0-3 = immediate ```
69
Neonatal hyperbilirubinemia path
Pathologic: conjugated, within 24hrs post-birth, kernicterus (unconjugated >25 ==> irreversible cerebellum) DONT phototherapy conjugated/direct
70
Respiratory distress syndrome path, presentation, dx, tx
2/2 pre-term surfactant deficiency 48-72hrs post-birth Cyanosis
71
Cerebral palsy path, presentation, dx, tx
Non-hereditary 2/2 perinatal neuro insult Hyperreflexia Spasticity Mental retardation No tx
72
Febrile seizure path, presentation, dx, tx
2/2 rapid temperature increase Simple 15 min or focal or multiple within 24 ==> increased risk for epilepsy Tylenol No aspirin ==> Reye's
73
Tracheoesophageal fistula path, presentation, dx, tx
Tract b/w trachea and esophagus Polyhydramnios Aspiration pneumonia Air in GI tract Surgical
74
Congenital diaphragmatic hernia path, presentation, dx, tx
GI protrudes through L diaphragm Bowel sounds in hemithorax XR or ultrasound Surgery
75
Gastroschisus path*, presentation, dx, tx*
Herniation of intestine WITHOUT sac around umbilicus Polyhydramnios Clinical Vaginal delivery unless C-section routinely indicated Sterile wrap ==> surgery and abx
76
Omphalocele path*, presentation, dx, tx*
Intestines protrude WITH sac through umbilicus Polyhydramnios Clinical Vaginal delivery unless C-section routinely indicated Sterile wrap ==> surgery
77
Duodenal atresia path, presentation, dx, tx
Failure of duodenal canalization Polyhydramnios Bilious emesis hours post-birth XR: DOUBLE-BUBBLE in duodenum and stomach Surgical repair
78
Neuroblastoma path, presentation, dx, tx
Embryonal neural crest tumor ==> abdominal, thoracic, cervical s HTN Myoclonus Elevated VMA & HVA FNA: small round blue cells
79
Wilm's tumor path, presentation, dx, tx
Renal tumor Beckwith Wiedeman, neurofibromatosis association Nontender abdominal mass Resection + nephrectomy + chemo
80
Ewing sarcoma path, presentation, dx, tx
Neuroectoderm tumor of midshaft Systemic symptoms Local pain and swelling Lytic lesions w/ onion skin Local excision + chemo + radiation
81
Osteosarcoma path, presentation, dx, tx
Osteoblasts tumor of metaphysis Local pain and swelling RARELY systemic (unlike Wilm's) Often lung mets Alk-p elevation (unlike Wilm's) Sunburst lesion CHEST CT Local excision + chemo
82
Baby care guidelines
Water 20lbs | No solids <12 months
83
Strabismus path, presentation, dx, tx
Normal until 3 months Surgery
84
Lead poisoning path, presentation, dx, tx
Lead ``` Usually asymptomatic Headache Abdominal pain Peripheral neuropathy (foot drop) Confusion, seizure, coma ``` Fingerstick screening ==> if greater than 5 ==> venous level Microcytic, hypochromic, basophilic stipling If 45-70 ==> DMSA If >70 ==> British anti-lewisite + EDTA
85
Preterm infant vaccine dating
Chronological age, not gestational
86
Bedwetting workup*
Normal 5 ==> urinalysis for diabetes, infection ==> alarm and/or desmopressin therapy
87
Galactosemia path*, presentation*, dx, tx
Galactose-1-phosphate uridyl transferase deficiency ==> elevated blood galactose ``` Newborn with: Failure to thrive Bilateral cataracts Hypoglycemia Jaundice ``` Clinical Eliminate galactose from diet
88
Pinworm path, presentation, dx, tx*
Enterobius adults in cecum/appendix ==> females lay eggs on anus at night Nocturnal butt-itching N/V/abdominal pain +Scotch tape test Albendazole or mebendazole
89
Glycogen storage disease names, path*, presentation*, dx, tx
Type 1: von-gierke's G6P deficiency Doll-like fat cheeks, thin extremities, hypoglycemic seizures, enlarged liver and kidneys Hyperuricemia, lactic acidosis, hyperlipidemia Type 2: Pompe's Acid maltase deficiency Floppy baby with heart failure, macroglossia Type 3: Glycogen debranching enzyme Hypoglycemia, enlarged liver, enlarged spleen, normal kidneys Elevated transaminases, normal uric acid Type 4: amylopectinosis Branching enzyme deficiency Hepatosplenomegaly Cirrhosis
90
Friedrich ataxia path*, presentation*, dx, tx*
Autosomal recessive trinucleotide overexpression Wide gait Decreased reflexes Heart failure (myocarditis, fibrosis) EKG: T-wave inversions 2/2 myocarditis MRI: Atrophy of cervical cord and cerebellum Progresses to death
91
Neonatal tetanus presentation*
2/2 unimmunized mothers Often 2/2 poor obstetric care, such as umbilical stump infections Poor suckling, lethargy, rigidity, spasms
92
SIDS sudden infant death syndrome tx*
Unclear etiology Lie babies on back (supine)

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