Case Files 1-4 Flashcards
What’s constiutional delay
history of slow growth
How much calories does a healthy infant need in 1st yr? After 1st year?
120 kcal/kg/day in 1st yr
100 kcal/kg/day after
How much extra calories does a FFT kid need for catch-up growth?
50-100% more
What are the 4 main categories for causes of inadequate weight gain?
- inadequate caloric intake
- altered growth potential
- caloric wasting
- increased caloric requirements
What are some of the causes of inadequate weight gain due to inadequate caloric intake?
- lack of appetite due to depression or chronic dx
- Ingestation probs: feeding syndromes, neuro disorders (cerebral palsy), craniofacisal anomalies, genetic dx, tracheoesophageal fistula
- unavailability of food: negletc, inapprop food for age, insufficient amount
What are some of the causes of inadequate weight gain due to altered growth potential?
prenantal insult, chromosomal anomalies, endocrine dx
What are some of the causes of inadequate weight gain due to caloric wasting?
- emesis: GI dx, drugs, toxins, CNS pathology
- malaborption: GI dx (billiary atresia, celiac), IBD, infections, toxins
- Renal losses: DM, renal tubular acidosis
What are some of the causes of inadequate weight gain due to increased caloric requirements?
- increased metabolism: congenital heart dx, chronic respiratory dx, neoplasms, chronic infection, hyperthyroidism
- defective use of calories: metabolic dx, renal tubular acidosis
What are some common clinical features of congenital cytomegalovirus & toxoplasmosis?
Developmental delay, IUGR, microcephaly, cataracts, seizures, hepatosplenomegaly, prolonged neonatal jaudnce, purpura at birth,
What’s the feature that distinguishes btwn congenital CMV and toxoplasmosis?
CMV: calcified brain densities in periventricular pattern
Toxoplasmosis: clacified brain densities scattered thru out the cortex
At what age are kids often picky eaters?
18-30 months (1.5 - 2.5 yrs)
their growth can plateau
What labs might be seen w/ a pt with renal tubular acidosis?
elevated chloride
low bicarbonate and potassium
How might you be able to treat a pt w/ renal tubular acidosis?
oral supplementation w/ bicarbonate
what’s renal tubular acidosis a common cause of?
organic failure to thrive
what are the 3 types of renal tubular acidosis and what causes them?
Type 1: distal tube defects, caused by impaired H+ secretion
Type 2: proximal tubule defects caused by impaired tubular bicarbonate reabsorption
Type 4: distal tubule defect assoc w/ impaired ammoniagenesis
adolescent’s new-onset truant behavior, depression or euphoria or declining grades is MC assoc w/ what?
substance abuse or undiagnosed psychiatric hx (mania or bipolar)
What are s/s of alcohol intoxication?
euphoria, groggy, impaired short-term memory, talkativeness, vasodilation. At high levels - respiratory depression
How long can alcohol be detected in your blood or urine?
7-10 hr in blood
10-13 hr in urine
What are s/s of marijuana use?
elation and euphoria, impaired short-term memory, distortion of time perception, poor performance of tasks requiring concentration, loss of judgement
how long can marijuana be detected in your urine?
3-10 day for occasional user or up to 2 mo for chronic users
What are s/s of cocaine use?
dilated pupils, tachycardia, HTN, hyperthermia, paranoid ideation
euphoria, increased motor activity, decreased fatigability, changes in nasal mucosa
how long can cocaine be detected in urine?
2-4 days
what are s/s of methamphetamine and methylenedioxymethamphentamine (ecstasy)?
increased sensual awareness, increased psychic and emotional energy, teeth grinding, jaw clenching, tachycardia, blurred vision, anxiety, panic attacks, psychosis, euphoria
how long can methamphetamine/ecstasy be detected in urine?
2 days
what are s/s of opiate use (heroin, morphine, codeine)
Pinpoint pupils, hypothermia, vasodilation,
euphoria, decreased pain sensation, respiratory depression
How long can opiates (heroin, morphine, codeine) be detected in urine?
2 days
what are s/s of phencyclidine (PCP)?
nystagmus, ataxia, emotional lability, hallucinations, panic rxn, disorientation, hypersalivation, abusive language, euphoria
how long can phenycyclidine (PCP) be detected in urine?
8 days
what are s/s of barbiturates?
pinpoint pupils, sedation, hypotension, bradycardia, hypothermia, hyporeflexia, CNS and respiratory depression
how long can barbiturates be detected in urine?
1 day for short-acting, 2-3 weeks for long-acting
what’s brachydactyly?
excessive shortening of hand and foot tubular bones resulting in a box-like appearance
what’s clinodactyly?
incurving of one of the digits
what’s a syndrome?
constellation of features from a common cause
what’s an association?
2 or more features of unknown cause occurring together more commonly than expected
what’s VATER?
an association
Vertebral problems, Anal anomales, Trachea problems, Esophageal abnormalities and Radius or Renal anomalies
what’s a sequence?
a single defect that leads to subsequent abnormalities
what’s an example of a sequence?
Potter dx’s lack of normal infant kidney fxn causes decreased UOP, oligohydramnios and constraint deformities
what are common facial features of potter dx?
wide-set eyes, falttened palpebral fissures, prominent epicanthus, falttened nasal bridge, mandibular micrognathia, large, low-set, cartilage-deficient ears
what’s the serum trisomy screening and when’s it performed?
AFP, hCG, inhibin A and estriol
performed 15-20 weeks gestation
what are some dysmorphic features assoc w/ down syndrome?
upslanting palpebral fissures, brushfield spots (white/grey in peripheral iris), flat face, small rounded ears, excess nuchal skin, widespread nipples, pelvic dysplasia, joint hyperflexibility, 5th finger clinodactyly, single tansverse palmar (simian) crease, hypotonia, poor moro reflex, brachycephaly (shortness of the head), epicanthal folds, brachydactyly, wide space btwn 1st and 2nd toe, short stature, hypotonia
in a pt w/ down syndrome, what’s the 2 potentially life-threatening conditions to look for?
cardiac defect - MC endocardial cushion defect, VSD or tetralogy of Fallot
GI atresia - MC duodenal
down syndrome baby w/ persistent vomotting after feeds, esp if bilious, what’s the concern? Tests?
Duodenal atresia
upper GI study shows double-bubble sign
what are newborn conditions assoc w/ down syndrome?
endocardial cushion defects, GI atresia, hearing loss, strabismus, cataracts, nystagmus, congenital hypothyroidism
what are long tern consequences of down syndrome?
obesity, increased leukemia risk, acquired hypothyroidism, atlantoaxial (cervical spine) instability, premature aging w/ increased risk of Alzheimer
What are s/s of trisomy 18?
Edwards syndrome
weak cry, single umbilical A, low-set, malformed ears, clenched hands w/ overlapping digits, microcephaly, rocker-bottom feet, inguinal hernias, cleft lip/palate, micrognathia w/ small mouth and high arched palate,, small palebral fissures, prominent occiput, short sternum, cardiac defects (VSD, ASD, PDA, coarctation)
what are s/s of trisomy 13?
Patau syndrome
scalp cutis aplasia (missing part of skin and hair), single umbilical A, hypersensitivity to agents w/ atropine & pilocarpine, polydactyly, microphthamia, omphalocele, sloping forehead, deafness, microcephaly, holoprosencephaly (failure of forebrain growth), cleft lip/palate, postaxial polydactyly, flexed & overlapping fingers, coloboma (malformation of the eyes), cardiac defects (VSD, ASD, PDA, dextrocardia)
How does HIV PCR work in testing for kids?
primary assay to diagnose HIV in kids < 18 mo
detects HIV DNA in WBCs w/ high sensitivity and specificity
How do you definitively exclude HIV in a kid < 18 mo?
2 negative HIV DNA PCR assays after 1 mo of age, assuming other immunologic studies are negativeq
How does HIV Antibody ELISA (Enzyme-linked immunosorbent assay) work? When is it most sensitive?
screens for HIV IgG
detectable 2 wks - 6 mo after exposure
When might false positives in HIV Ab ELISA occur?
after immunization or hepatic dx, autoimmune dx or advanced AIDS
How does western blot work?
direct visualization of Ab to virion proteins, used to confirm screening ab ELISA assay
what’s the fxn of the CD4 T helper cell?
Essential for humoral (B-cell) and cellular (T-cell) immunity
binds to Ag presented by B cells, prompting Ab production and to antigens presented by phagocytes, promoting lymphokine release
what are 2 major things that suggest immunosuppression?
FTT
atypical or difficult-to-eradicate infections
What are signs consistent w/ immunosupression?
wasting, generalized LAD, organomegaly
what’s primary (syndromic) immunodeficiency due to?
a genetic defect either inherited or gene mutation, most are humoral in origin
what’s secondary immunodeficiency?
norm immune fx at birth but subsequently develop an illness or metabolic abnormality that disrupts immune cell production or fxn
what drug can help reduce HIV transmission? when should it be given?
Zidovudine
give to mom in 2nd trimester and baby thru 6 wks old
what’s the difference in diagnosing HIV in kids < and > 18 mo old?
< 18 mo: HIV DNA PCR testing - 2 assays
> 18 mo: HIV Ab ELISA and Western blot
what labs do you want for a HIV pt?
HIV RNA activity and CD4 cell count
How are neonates born to HIV+ mom treated?
6 weeks of Zidovudine, pneumocystis jiroveci (carinii)pneumonia (PCP) prophyalxis by trimethoprime (TMP)-sulfamethoxazole (SMX) starting at 6 wks old
what are the 3 major classes or anti-retrovirals?
- nucleoside reverse transcriptase inhibitors (NRTIs) (Didanosine, Stavudine, Zidovudine)
- Nonnucleoside reverse transcriptase inhibitors (NNRTIs) (Efavirenz, Nevirapine)
- Protease inhibitors (Indinavir, Nelfinavir)
What are common SE of all antiretrovirals?
HA, emesis, abd pain, diarrhea, osteopenia, drug rash, anemia, neutropenia, elevated LFTs, hyperglycemia, hyperlipidemia
Whats the current pediatric antiretrovial tx recommendation for HIV?
3 drugs - 2 NRTIs and 1 protease inhibitor
what immunizations should be excluded in peds w/ HIV?
live vaccines like MMR and varicella if symptomatic w/ CD4 < 15%
In DM, what can hyperglycemia promote?
neutrophil dysfxn and circulatory insufficiency contributes to ineffective neutrophil chemotaxis during infection (so higher risk of secondary immunosuppression)
What’s LAD?
leukocyte adhesion deficiency, inheritable dx of leukocyte chemotaxis & adherence. Recurring sinopulm, oral and cutaneous infections w/ delayed wound healing
Neutrophilia > 50,000
Severe infections w/ Staph, Enterobacteriaceae & Candida
What’s SCID?
severe combined immunodeficiency
AR or X-linked dx of both humoral and cellular immunity w/ markedly diminished or absent serum Igs and T cells. Can see thymic dysgenesis, recurreing skin, GI or pulm infections w/ opportunistics like CMV and PCP (pneumocystis pneumonia)
need BM transplant or death by 1-2 yr
What’s DiGeorge syndrome? What are s/s?
22q11 microdeletion
syndromic immunodeficiency w/ decreased T-cell production and recurrent infections
s/s: wide-set eyes, prominent nose, small mandible, cleft palate, velocardiofacial defects like VSD and tetralogy of fallot. Thymic or parathyroid dysgenesis w/ hypocalcemia and seizures
