Disease presentations and explanations Flashcards
Cause of blood in the stool in HSP
These occur in approx 50% of patients, about 1 week after dx.
Edema of the GI tract can cause damage to the vasculature and result in colicky abdominal pain and bleeding. Ultimate cause: vasculitis causing enlarged mesenteric lymph nodes, bowel edema and hemorrhage
causes of secondary immunodeficiency
HIV infection, DM, malnutrition, hepatic disease, autoimmune disease, aging, stress
primary immunodeficiencies
- severe combined immunodeficiency
- chronic granulomatous disease (phagocytic cell def)
- complement deficiency
reduces vertical transmission of HIV
Zidovudine (antiretroviral) given in 2nd trimester then given to infant through 6 weeks reduces transmission to < 10%
preferred testing for HIV in neonate
HIV DNA PCR -> must be done this way due to maternal antibodies
** use ELISA followed by Western blot in 18 mos or older
Disease status eval: HIV RNA activity, CD4 count, clinical findings
“severe”: CD4 < 200
“normal”: CD4 >500
used to prevent PCP infection in HIV+ infants
TMP-SMX prophylaxis started at 6 weeks
Pediatric antiretroviral regimen for HIV+
2 nucleoside reverse transcriptase inhibitors and 1 protease inhibitor
Nucleoside reverse transcriptase inhibitors:
1. didanosine
2. stavudine
3. zidovudine
Nonnucleoside reverse transcriptase inhibitors:
1. efavirenz
2. nevirapine
Protease inhibitors:
1. indinavir
2. nelfinavir
erythematous macular rash with satellite lesions
cutaneous candidiasis
recurrent oropharyngeal and cutaneous infections with delayed wound healing
recurrent sinopulmonary infections
leukocyte adhesion deficiency (LAD)
be suspicious if have birth wounds that aren’t healing and attached umbilical cord at 6 weeks
diminished/absent T cells
diminished/absent serum immunoglobulins
thymic dysgenesis
recurrent cutaneous, GI or pulm infections (CMV, PCP)
SCID
AR or X-linked
Thymic aplasia
Boot-shaped heart on XR
atypical facies (wide-set eyes, prominent nose, small mandible)
cleft palate
DiGeorge Syndrome
hypogonadism gynecomastia long limbs learning difficulties (spelling, reading, math) often not dx until puberty
Klinefelter syndrome
(extra X in males) -> the more X’s the more MR -> check IQ
**Note increased breast cancer risk which approaches that for females
males display explosive temper and aggressive or defiant behavior
long asymmetrical ears
XYY
Child is exclusively fed goat’s milk. What are the complications?
megaloblastic anemia (from folate or B12 def); also is iron-poor brucellosis (if not pasteurized)
congenital condition which the liver’s bile ducts are blocked and fibrotic, resulting in reduced bile flow into the bowel (since less bile salts have fat-soluble vitamin deficiency, ex: vit D)
biliary atresia
Surgical correction: Kasai procedure
Note: patient’s with liver failure are often treated with diuretics for ascites and this results in calcium loss in the urine -> higher risk for rickets)
Dental differences between rickets and familial hypophosphatemia
Rickets: enamel defects
Familial hypophosphatemia: intraglobular dentin deformities
lab value seen in all rickets cases
elevated serum alkaline phosphatase level
labs typical of low Vit D
decreased serum calcium and phosphorus
increased serum alkaline phosphatase and urine amino acids
caused by dystrophin gene deletion, resulting in proximal lower extremity weakness
Duchenne muscular dystrophy
-calf muscles show fat and fibrosis with absent dystrophin on immunochemistry staining
urinary tract anomaly anuria/oliguria in utero oligohydramnios pulmonary hypoplasia flat facies limb deformities
Potter sequence
decreased amniotic fluid can cause physical anomalies
most common cause of urinary tract obstruction in newborn boys
posterior urethral valves
Kawasaki disease vs Scarlet fever
Both have history of strep pharyngitis, but in scarlet fever it is “untreated strep pharyngitis”
Kawasaki has a blanching rash that includes the palms and soles. Swelling and erythema of the palms/soles.
Kawasaki has cervical lymphadenopathy of at least one lymph node.
Scarlet fever has a sandpaper rash that spares the palms and soles. It also has tonsillar exudates.
How much weight loss equals 1 L fluid loss?
1 kg
cool, clammy skin capillary refill > 3s cracked lips dry mucous membranes sunken eyes sunken fontanelle tachycardia lethargy
severe dehydration (10-15% volume loss)
decreased skin turgor dry mucous membranes tachycardia irritability capillary refill 2-3 s
moderate dehydration (6-9%)
sign on dehydration in diaper
brick-red urate crystals
Blanching rash vs nonblanching rash
Blanching rashes: blanching suggests that the erythema is due to vasodilation and is seen with viral illnesses, drug eruptions, Kawasaki disease, roseola and scarlet fever.
Nonblanching rashes are from dermal hemorrhage: meningococcal disease and late in Rocky Mountain spotted fever
starts with “pins and needles” then ascending weakness
flaccid paralysis with absent DTRs and nerve conduction abnormalities
Guillain-Barre
edema, fatigue, abdominal pain and proteinuria
minimal change disease
doll-like face, thin extremities, protuberant abdomen from enlarged liver and kidneys, short stature
seizures from hypoglycemia
glucose-6-phosphatase deficiency
50,000 colony-forming units/mL in catheter-obtained urine specimen
bacteriuria
greater than or equal to 5 WBCs in urine
pyuria
stridor that improves with neck extension
associated with cardiac abnormalities
vascular ring
metabolic acidosis with AG hyperketonemia hyponatremia Elevated BUN & creatinine may see elevated WBCs from infection causing exacerbation
DKA
hemoglobin A1c goals for diabetics
6-9%
> 12% suggests poor control
Other than DKA, what might cause glycosuria?
stress response to infection
Special management of sickle cell disease (SCD)
- daily PCN by 2 months age
- daily folate by 6 months age
- pneumococcal and meningococcal vaccines by age 2
- watch for evidence of stroke -> treat with exchange transfusion to reduce the number of circulating sickle cells.
- routine CBC with retic count starting at diagnosis or 2 months
complication of splenic sequestration
cardiovascular collapse
coughing spells with quiet intervals, often heard with pertussis and chlamydial pnemonia
staccato cough
causes of pleural effusion
- CHF
- mycobacterial pneumonia
- malignancy (lymphoma)
most frequent cause of pediatric bacterial pneumonia
pneumococcus
cause of “belly pain” in a child with pneumonia
irritation of the diaphragm by pulm infection
diarrhea/defecation urination miosis bradycardia bronchorrhea emesis/excitation of muscles lacrimation salivation
cholinergic excess (organophosphate poisoning) Tx: atropine and pralidoxime
symptoms of arsenic ingestion
nausea, vomiting, abdominal pain, diarrhea
red or maroon-colored stools
hematochezia
black tarry stools produced by oxidation of heme by intestinal flora
melena
causes 50% of lower GI bleeds in children less than 2 yr
Meckel diverticulum
most common cause of hematochezia in infants, children and adolescents
anal fissure
treatment of AOM
amoxicillin 80-90 mg/kg/d for 7-10 days
if clinical failure after 3d, change to augmentin, cefuroxime axetil (Ceftin), azithromycin, cefixime, ceftriaxone, or tympanocentesis
Wheezing vs stridor
wheezing is polyphonic, and stridor is monophonic
drooling, preference to sit in a tripod position, muffled vocalizations, inspiratory stridor, absence of cough
epiglottitis
vaccine associated with thrombocytopenia
MMR
give with caution to those with ITP
most common infectious cause of congenital sensorineural hearing loss (SNHL)
prenatal CMV
Other infectious causes: toxoplasmosis, rubella, syphilis
Postnatal causes: GBS sepsis and S. pneumoniae meningitis
partial albinism (white forelock), SNHL, lateral inner canthi displacement, eyebrow confluence, broad nasal bridge and mandible
Waardenburg syndrome
absence of the lens
aphakia
reflux with intermittent torticollis
Sandifer syndrome
These have abnormal head posturing associated with reflux
Drugs that caused dystonia that may present like torticollis
phenothiazine, metaclopramide, haloperidol
most common cause of severe urinary tract obstruction in boys
posterior urethral valves
Risk: end stage renal disease
Conditions associated with undescended testis
Hernia, testicular torsion, testicular cancer, infertility
elevated urinary vanillylmandelic acid and homovanillic acid levels
elevated enolase, ferritin, lactate dehydrogenase
Neuroblastoma
Presentation: abdominal mass, pallor, proptosis, “raccoon eyes”
Tumor is typically found in the adrenal gland
Poor prognosis: older children with bony mets, N-myc oncogene amplification
Structures at risk with retropharyngeal abscess
Mediastinal
