Peds uworld review 3 Flashcards
What are the key clinical differentiating factors between Niemann-Pick’s disease and Tay-sach’s?
- HSM in NP, not in TS
- Areflexia in NP vs hyperreflexia in TS
What are the clinical manifestations of Niemann-Pick’s?
- Loss of motor milestones
- Hypotonia
- Feeding issues
- Cherry red macula
- HSM
- Areflexia
What are the clinical manifestations of Tay-Sach’s disease?
- Loss of motor milestones
- hypotonia
- Feeding issues
- Cherry red macula
- hyperreflexia
Galactocerebrosidase deficiency results in what disease? S/sx?
- Krabbe
- MR
- hypotonia
- Areflexia
Glucocerebrosidase deficiency results in what disease? S/sx?
- Gaucher’s disease
- Anemia
- Thrombocytopenia
- HSM
- NO loss of milestones
How do the cafe au lait spots between NF1 and McCune albright syndrome compare?
McCune albright are larger, and not associated with inguinal/axillary freckling
What is the classic triad of symptoms for McCune Albright syndrome?
- Precocious puberty
- Cafe-au-lait spots
- Polyostotic fibrous dysplasia (bone fractures)
Pts with Turner syndrome are at increased risk of what disease once elderly? Why?
Osteoporosis d/t failure of streaked ovaries to produce estrogen
Coffee bean sign on AXR = ?
Sigmoid volvulus
What enzyme is deficient in the severe form of galactosemia?
Galactose-1-phosphate uridyl transferase
What are the classic s/sx of the severe form of galactosemia?
- Jaundice
- Hypoglycemia
- Cataracts
- FTT
What are the s/sx of galactosemia if galactokinase enzyme is deficient?
Cataracts only
What are the classic s/sx of Von Gierke’s disease? What causes this disease?
- Fasting hypoglycemia
- hepatomegaly
- Doll like face
- Hyperuricemia
-Glucose-6-phosphatase deficiency
What are the lab findings of medium-chain CoA deficiency?
Hypoketotic hypoglycemia with fasting
What heart sounds are commonly heard with complete AV septal defect? (3)
- Loud S2 2/2 pHTN
- Systolic ejection murmur from increased flow across pulmonary valve
- Holosystolic VSD
What are the heart sounds of tetralogy of fallot?
What are the heart sounds heard with Ebstein anomaly?
Widely split S1 and S2 sounds, plus a loud S3 or S4. (“triple gallop”)
What are the heart sounds of truncus arteriosus?
Loud ejection click at the left sternal border.
What is the underlying defect in Fanconi anemia? s/sx?
- AR or XLR loss of DNA chromosomal repair mechanisms
- Aplastic anemia with progressive bone marrow failure.
- Short stature, microcephaly, abnormal thumbs, and hypogonadism
What type of colonic polyps (size, shape, number) confer a high risk of malignant potential?
- More than 1 cm
- Villous
- 3 or more
What is the presentation of 5-alpha-reductase deficiency?
46 XY with male internal genitalia, but ambiguous external genitalia until after puberty
What differentiates androgen insensitivity vs Mullerian agenesis, besides karyotype?
-Androgen insensitivity have male internal genitalia, since mullerian inhibitory factor still present
What is the treatment for localized impetigo?
Topical abx like mupirocin
Serum triglyceride levels must be over what level to be considered a cause of pancreatitis?
1000 mg/dL
What is the most common congenital heart abnormality in pts with trisomy 18?
VSD
What two heart conditions are associated with DiGeorge syndrome?
Transposition
Truncus
When should the treatment of clubfoot take place?
Immediately
What is the inheritance pattern and defect with myotonic muscular dystrophy (steinert disease)? S/sx?
- AD trinucleotide repeat on the dystrophia myotonica protein kinase gene.
- Myotonia
- Dysphagia
- Conduction abnormalities
- Testicular atrophy
What is the treatment for osteomyelitis when staph/strep is suspected? Salmonella (e.g. SCD pts)?
- Nafcillin/oxacillin
- Add 3rd gen cephalosporin if salmonella
- Use vanco if MRSA
What is the treatment for mobitz type I hear block?
Benign–no treatment needed
Where anatomically does the block occur with Mobitz type I and II respectively?
I = AV node II = Below the AV node
What happens to the block in mobitz type I and II with exercise/atropine? Vagal maneuvers?
- I = improves with exercise, worsens with vagal
- II worsens with exercise, improves with vagal maneuvers
What is the sail sign on CXR of an infant?
The shape the thymus makes is like a sail in the right upper chest, just lateral to the sternum
What is the difference of benign vs pathological GERD in infants?
- Benign = “happy spitter”
- Path = FTT, significant irritability
What action can pts with retropharyngeal abscesses not perform?
Extension of the neck
How is a retropharyngeal abscess assessed for on a lateral neck x-ray?
If prevertebral space is large than the vertebral bodies
What is endophthalmitis? S/sx?
Inflammation of the interior of the eye-most often caused by surgery
- Severe pain
- vision loss
- conjunctival injection
What is hypopyon?
Inflammatory cells in the anterior chamber of the eye
True or false: pupillary light reflex is intact in brain dead pts
False
True or false: heart rate acceleration with atropine injection still occurs when brain dead
False–total loss of vagal activity, so heart rate does not change
True or false: DTRs are still present in brain dead pts
True
When and how does chlamydial vs gonococcal conjunctivitis present? What is the treatment for each?
- Gonococcal = 2-5 days after birth, with purulent d/c. IM cephalosporin
- Chlamydia = 5-14 days after birth, mucopurulent/watery d/c . Oral erythromycin (topical only effective for prevention, not treatment).
Where on the skin does dermatitis herpetiformis usually occur?
Extensor surfaces
What is the major difference between non-classical CAH vs leydig cell tumors?
leydig cell tumors will have all the s/sx of precocious puberty like nonclassic CAH, but will have a testicular mass associated with it.
How can hypothyroidism lead to HTN?
Increased metanephrine and aldosterone levels
What are the antibodies that are found in Diffuse cutaneous systemic sclerosis?
Ant-Scl 70
-Anti RNA pol III
What are the antibodies found in limited scleroderma?
Anti Centromere abs
What is the treatment for prolonged QT syndrome?
beta blocker and a pacer
What is Jervell and Lange-Nielsen syndrome?
-AR long QT syndrome with associated sensorineural deafness
What class of antiarrhythmics are contraindicated with congenital long QT syndromes?
Class III, since they inhibit K channels and prolong the QT
What is the difference between euthyroid sick syndrome, and subclinical hypothyroidism?
- Euthyroid sick = low free T3 d/t low conversion of T4. All other labs normal.
- Subclinical = elevated TSH, with normal T4
Which carry a risk of malignancy: hyper or hypofunctioning thyroid nodules?
Hypo
How can hyperthyroidism lead to osteoporosis?
Stimulates osteoclasts
An innocent murmur in a child should increase or decrease with laying down?
Maneuvers that decrease venous blood return to the heart should decrease intensity of murmur
What is bullous myringitis?
Blister on TM. Supportive care indicated.
Which test has the higher sensitivity: RPR/VDRL or the treponemal FTA-ABs test?
FTA-ABs
Both syphilis and klebsiella granulomatis infection present with progressive, painless ulcer(s). How can you differentiate between them?
Syphilis has LAD, whereas klebsiella does not
What is a pathergy test?
- Used for diagnosing Behcet’s syndrome
- 2- gauge needle is inserted into the skin, and the site is checked 24-48 hours later for the development of a 2+mm papule
Which diuretics are associated with pancreatitis? (2)
furosemide
thiazides
Which drugs used to treat IBD are associated with pancreatitis? (2)
5-ASA
Sulfasalazine
Which immunosuppressive drug is associated with pancreatitis?
Azathioprine
Which abx are associated with pancreatitis? (2)
Metronidazole
Tetracycline
Which antiepileptic drug causes pancreatitis?
Valproic acid
What is the best test to diagnose duchene’s muscular dystrophy?
Genetic testing
When does primary amenorrhea require workup (wwo secondary sex characteristics)?
With secondary = 16 years
Without secondary = 14 years
What happens to MCV with hydroxyurea?
Macrocytosis
True or false: a bimanual exam in female children is never indicated, unless a large FB is present
True
