QBank knowledge Flashcards
Polycythemia for infants is what crit
> 65%
What causes polycythemia
increase erythropoiesis (diabetes, HTN, smoking, IUGR) or Erythrocyte transfusion (delayed clamping time, twin -twin transfusion)
What are kids disposed to after heart surgery?
pericardial effusion leading to tamponade
What is beck’s triad for tamponade?
distant heart sounds, distended jugular veins, hypotension
What are breathholding spells associated with
Iron deficiency anemia
What 2 types of breathholding are there?
cyanotic - normal with crying and pallid - triggered by minor trauma.
How does a VSD present?
harsh, holosystolic murmur at the lower left sternal border. The louder the better, because big VSD’s have less murmur activity. 75% close by age 2
Ewings’s sarcoma?
x-ray shows onion-skinning, usually at the metaphysis or diaphysis of long-bones. pain and swelling for weeks. often confused with osteomyelitis.
Osteosarcoma
asdf
What is the most common congenital adrenal hyperplasia and what level will be raised. Presentation?
21-hydroxylase deficiency. presents with virilization of females, salt-wasting, and INCREASED 17-hydroxyprogresterone levels.
If complete deficiency, then you see it as a baby with tons of salt-wasting
If partial deficiency, presents in adolescents as hyperandrogenism (hirsutism, virilization), elevated 17-hydroxyprogesterone, and some salt wasting.
How does acquired aplastic anemia present
History of drug or toxin exposure/ingestion or infection. Pallor, weakness, fatigue, loss of appetite. labs show normocytic anemia and ALL things are down (retics, leukocytes, thrombocytes). Bone marrow biopsy shows total decrease
What are other types of anemia
fanconi’s - pancytopenia + CONGENITAL ANOMALIES (cafe au lait macules, hyperpigmentation of the trunk/neck/intertrig, upper limb abnormalities, renal abnormalities, hypogonadism, ). Presents between 4-12 years. IT IS AUTOSOMAL RECESSIVE and caused by chromosomal breaks.
Diamond-blackfan - congenital PURE RED CELL APLASIA in first 3 months of life. pallor and poor feeding. congenital abnormalties in 50% including short stature, webbed neck, cleft lip, shield chest, and triphalangeal thumbs.
Transient erythroblastemia of childhood - present 6 months to 5 years. pallor and tachycardia.
Leukemia - fever, lethargy, bruising and bleeding. CBC can show mixed results. bone marrow shows crazy cells.
What is only infant factor contraindication to breastfeeding?
galactosemia
What is tx and dx for esophageal coin ingestion?
flexible endoscopy
Eczema - where does it present in infants
face, chest, and extensor surfaces of extremities. flexural involvement in older kids and adults.
What kidney condition does Hep B put at risk of?
membranous nephropathy - presents with edema, hypoalbuminemia, and elevated urine protein consistent with nephrotic syndrome.
How does epiglottitis present and what is major cause?
abrupt fever, sore throat, dysphagia, drooling. HIB is major pathogen
when does pyloric stenosis present and how? dx? risk factors?
4-8 weeks after birth, non-bilious projectile vomiting, can show hypochloremiac metabolic acidosis. “olive shaped” mass
dx: Ultrasound
risk factors: first born boy, erythromycin tx, formula feeding
when and how and dx of hirchsprung and meconium ileus?
failure to pass meconium within 48 hours and dilated bowel loops on x-ray. dx by contrast enema
malrotation with midgut volvulus presentation, dx and when?
neonates <1 month. bilious vomiting. dx: upper GI study
CF presentation, dx
autosomal dominant recessive, chronic sinpulmonary infections + nasal polyps, sweat testing
How do you treat staph pneumonia?
Iv vanc
Describe presentation and tx of tinea corporis
superficial fungal infection with erythematous, scaly, pruritic rash with central clearing. treated with topical antifungals such as terbinafine.
What is the triad of Wiskott-aldrich? inheritance
X-linked disorder. Triad is thrombocytopenia, eczema, recurrent bacterial infections (strep pneumo, N meningitidis, H influenzae). thrombocytopenia is due to decreased production.
After when is bedwetting (enuresis) abnormal? How common?
tx?
> 2x per week after age 5. boys train later than girls. 15% of boys 2% of girls
tx: 1st line, enuresis alarm - 3-4 months before it works
Pharmacotherapy: 1st line, desmopression
2nd line, TCA’s
What is todd’s paralysis
a postictal condition that rapidly improves over 24 hours. Sudden loss of consciousness (seizure) followed by hemiparesis and slow restoration (todd’s).
What is hemophilia A and B? Who affects? what are side effects?
deficiencies of factor VIII and IX. only males, females are carriers. It can cause hemarthrosis leading to hemosiderin deposition and fibrosis.
What is classic presentation of Henoch-schonlein purpura and what are kidney findings? What is it?
IgA mediated vasculitis of small vessels.
- palpable purpura in lower extremities
- NORMAL PLATELETS (if thrombocytopenia, think more down the HUS road)
- arthralgias
- abdominal pain leading to intussusception and GI bleeding
- Renal disease (mesangial deposition of IgA leading to hematuria, RBC casts, and mild proteinuria)
- SCROTAL SWELLING
Rash comes first (symmetric and over legs, butt, arms). Arthralgias/arthritis. Majority also have abdo pain. renal comes in up to 50% and then occurs 4-6 weeks later.
When to operate on umbilical hernia?
most disappear by 1 year. If persist more than 3-4 years, exceeds 2 cm, causes sx or strangulates, or enlarges, then operate.
What are the clinical manifestations of osteogenesis imperfecta?
blue sclerae, hearing loss, recurrent fractures, and “opalescent teeth”.
Describe presentation of scarlet fever? cause? tx?
cause by strains of group A strep that produces erythrogenic toxins. starts with strep pharyngitis (or cellulitis) after 1-7 days of incubation. rash starts on neck, axillae, groin and then generalizes withint 48 hours. rash is punctuate, or finely papular texture that is “sandpaper-like” . pharynx has grey-white exudate. mouth has “circumoral pallor”. By end of 1st week, there is desquamation
tx: Penicillin V. THEN erythromycin, clinda, and 1st generation cephalosporins for those with pen allergy
What is erb-duchenne and what is prognosis?
C5,6,7 branchial plexus injury due to vaginal delivery. due to macrosomia (male sex, african american, and post-term pregnancy also a problem). 80% have recovery within 3 months. consider surgery if not better within 3-6 months.
How does atlantoaxial instability present and who does it affect?
downs children 10-15%. usually laxity in C1 to C2. presents with upper motor sx (spasticity, +babinski, hyperreflexivity, clonus) + other sx (behavioral changes, urinary incont, torticollis, vertebrobasilar sx, vertigo, diplopia). Down’s are normally hypotonic.
presentation of cephalohematoma?
subperiosteal hemorrhage. several hours after birth and limited to one cranial bone. resorb within 2 weeks to 3 months.
Fragile X buzzwords? gene?
appearance is large head, long face, prominent forehead and chin, protruding ears, joint laxity, macroorchidism. behavior - autism, hyperactivity, short attention span. Gene is FMR1 - CGG repeats
Kawasaki disease presentation and dx criteria? Complications?
FEVER LONGER THAN 5 DAYS. 4 of the following
- cervical lymphadenopathy with at least one node >1.5 cm
- erythematous polymorphous rash
- extremity changes (edema/erythema)
- Bilateral nonexudative conjunctivitis
- Mucositis (strawberry tongue, injected pharynx, injected or fissured lips)
Complications: coronary artery aneurysm, myocardial infection + ischemia
Tx: high dose aspirin +IVIG
Vit A def presentation?
bad adaptation to the dark, photophobia, scaly skin, xerosis conjunctiva, xerosis cornea, keratomalacia. follicular hyperkeratosis +Bitot spots of shoulder buttocks and extensor surfaces.
What to think of with severe coughing + subq ephmysema
pneumothorax
Presentation of craniopharyngioma
increased intracranial presure (headaches, vomiting), bitemporal hemianopsia, and a CYSTIC CALCIFIED PARASELLAR LESION practically makes this dx. from remnants of rathke’s pouch.
What happens when you swing kids by arms/
subluxation of the radial head. go for forearm hyperpronation and full recovery should occur.
How does one dx an iron deficient anemia and how to distinguish from thalassemias?
microcytic anemia. RDW is > 20%. In thalassemias (alpha trait and beta minor), it is normal at 12-14%.
How does sickle cell present in babies?
vaso-occlusive disease leading to dactylitis. dactylitis is symmetric swelling of hands and feet. present 6 months to 2 years with acute onset of pain. may show osteolytic lesions on x-ray.
What are the catalase positive organisms and who gets infected? what is test? tx?
staph aureas, aspergillus, serratius marascens, burkholderia cepacia. Chronic granulomatous disease (recurrent or unusual lymphadenitis, hepatic abscesses, osteomyelotis). dx by nitroblue tetrazolium, cytochrome c reduction, or flow. tx: daily tmp-sx and gamma-interferon 3x per week.
What enzyme and what is typical presentation of Von-gierkes disease
G6 phosphatase deficiency. presentation generally is “DOLL-LIKE FACE” (fat cheeks), PROTUBERANT ABDOMEN (due to enlarged liver and kidneys), thin extremities, short stature. Labs show hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia. hypoglycemic seizures are common.
What to do with croup as it worsens?
give racemic epi as it decreases need for intubation.
What is the choana and how does choanal atresia present? What syndrome associated with it? dx?
choana - back of nasal passage. atresia presents as cyanosis with feeding, relieved by crying. due to bony (90%) or membranous (10%) obstruction. Syndrome is CHARGE:
C - coloboma (hole in the eye) H - heart defects A - atresia of choana R - renal anomalies G - growth impairment E - ear abnormalities/deafness
dx? failure to pass a catheter through the nose. Can also CT the thing.
What is an intraventricular hemorrhage and what are risk factors?
IVH is seen in premature and LBW babies. Patients present with pallor, cyanosis, hypotension, seizures, focal neurological signs, bulging or tense fontanels and is seen mostly in PREMATURE BABIES.
What is anemia of prematurity? labs?
common anemia in LBW and preemies. labs show normocytic, normochromic RBC’s, retics low and precursors in bone marrow are decreased, Normal bili, WBC, and platelets
How do kids get a carotid dissection?
ONLY WAY is trauma to the soft palate compressing the ICA (thrombosis and stroke) or dissection. onset is 24 hours after trauma. Image with MRI.
What is the presentation retinoblastoma? pathophys?
retinoblastoma is the most common intraocular tumor in children due to inactivation of the RB tumor suppressor gene - highly malignant. presents with leukocoria.
What labs are abnormal in muscular dystrophy AND what is gold standard
gold standard = genetic testing. labs elevated are creatine phosphokinase and aldolase levels. muscle biopsy shows fatty infiltration and fibrosis. gower sign and bilateral calf pseudohypertrophy
Risk for clavicular fracture and management?
all risk factors for shoulder dystocia (maternal diabetes, fetal macrosomia). fractures heal spontaneously in 7-10 days without sequelae. pain decrease by pinning the sleeve to shirt.
what is beckwith-wiedemann and what are clinical features? what do you get eventually? monitoring
overgrowth disorder alteration of chromosome 11p15 (sporadic or inherited) that predispose to neoplasms. Mnemonic for presentation - HOMO
H - hypoglycemia and HEMI-hyperplasia
O - Omphalocele
M - Macroglossia
O - Organomegaly
eventually you get wilm’s tumor and hepatoblastoma.
Monitor with this with abdo US.
Where does medulloblastoma present and affect?
2nd most common posterior fossa tumor. 90% affect the cerebellar VERMIS.
What is the 1st most common: benign astrocytoma.
What is the triad of kartagener’s
recurrent sinusitis, bronchiectasis, dextrocardia (heart points towards right)
What is immediate management of gastroschisis and ompahalocele?
immediately wrap the exposed bowel in sterile saline dressing and plastic wrap to minimize heat loss and fluid losses.
Where can pinworms present?
anal nighttime itching AND in prepubescent girls, vulvovaginitis.
What is a good apgar score
> 7 means leave them alone. <60 bpm, intubate, chest compressions, and if not correction, IV epi.
What are clinical manifestations of Coarctation of Aorta? What genetic defect associated?
upper body HTN + lower body hypoperfusion, mild continuous murmur all over the chest due to development of collaterals between hypertensive and hypoperfused vessels. CXR shows rib notching.
7% of Turner’s kids have it.
What are clinical sx of congenital hypothyroidism and major cause?
typically appear normal at birth, but gradually develop
Jaundice, LARGE TONGUE, NEW UMBILICAL HERNIA, abdominal bloating, apathy, weakness, hoarse cry, and sluggishness. Most common cause: thyroid dysgenesis is 85% (aplasia, hypoplasia, ectopic gland). Is a genetic thing..
One of 3 things always checked in babies: hypothyroidism, phenylketonuria, galactosemia.
What are the confirmatory tests for lupus? what other things are elevated?
anti-smith and anti-double stranded DNA are confirmatory. Clinical features include malar rash, joint pains. Labs show anemia, leukopenia, normal platelets. ANA and RPR are positive.
What is probably normal jaundice and what are jaundice to workup?
NORMAL, physiologic jaundice is unconjugated 12-14 between 1 days and 10 days after life. more common in preemies, diabetic moms, and asian babies
Always workup conjugated hyperbili.
Workup for the following:
- Jaundice before 36 hours of life
- serum bili rising > 5 mg/dl/day
- serum bili >12 in term and >10 in preemies
- Jaundice after 10 days
- signs and sx of jaundice
triad of congenital toxo?
- chorioretinitis
- hydrocephalus
- intracranial calcifications
ChoHy InCa
Triad +M’s of congenital rubella?
- deafness
- cataracts
- cardiac defects
M’s = microcephaly, micropthalmia, meningoencephalitis
What are contraindications to breastfeeding?
Maternal
- active, untreated TB
- HIV
- illicit drug and alcohol abuse
- chemo
- varicella infection OR herpetic breast lesions
Baby
1. galactosemia
What are some common benign skin and diaper findings within 1 week of birth
- dry, flaky peeling skin of hands and feet
- pink stains or “brick dust” in diaper is normal uric acid crystals. uric acid crystal excretion is high at birth and seen in 1st week as mom’s milk comes in.
Normal loss of birthweight?
Lose up to 10% and regain by 10-14 days
Name 3 systems involved in Freidrich ataxia? age of onset? inheritance? cause of death?
- neurologic (ataxia, dysarthria)
- skeletal (scoliosis, feet deformities)
- cardiac (concentric hypertrophic cardiomyopathy)
Age of onset: before 22. Death by 35
Autosomal recessive
death: cardiomyopathy and respiratory problems
Growing pains. age of presentation? presentation? epi?
Occur in 10-30% of children ages 2-12.
bilateral, lower extremity pain (thigh, calf)
occurs at night and resolves by morning
normal physical exam
Tx: massage, stretching, analgesia, reassurance
What are the clinical features of cystic fibrosis?
respiratory (bronchiectasis, recurrent pneumonia, chronic rhinosinusitis)
GI (obstruction as a baby of meconium ileus, pancreatic disease)
repro (infertility in 95% of men and 20% of women)
MSK (osteopenia, clubbing)
actually, having oily stools rarely have pancreatitis because stuff is getting out.
What is myotonic muscular dystrophy?
and AUTOSOMAL DOMINANT type of muscular dystrophy that presents from age 12 to 30 and causes myotonia. Classic finding: patient is unable to release a hand shake (grip myotonia). Dysphagia leading to aspiration pneumonia. Cardiac conduction problems. Cataracts, and TESTICULAR ATROPHY, frontal baldness, and insulin resistance. Skeletal muscle weakness of FACE, forearms, hands, ankle dorsiflexors (foot drop).
Why do we give erythromycin drops at birth
for gonococcal eye infection and NOT for chlamydia.
When does intrapartum chlamydia present and how? How does one treat?
chlamydia trachoma conjunctivitis 5-14 days after birth.
pneumonia - 4-12 weeks after birth.
tx: ORAL erythromycin for 14 days.
How long duration must there be antalgia for legg-calve-perthe disease? What are other features? prognosis?
LCP is osteonecrosis of the femoral head that affects kids 4-10 years. Must have > 1 MONTH of antalgia. pain is insidious onset and has mild chronic pain. self-limited in 18 months
What are the 3 P’s of McCune-Albright?
- precocious puberty
- pigmentation (cafe au lait)
- polyostic fibrous dysplasia (results = bone fractures)
How does Klumpke palsy present? What is the main manifestation?
really only due to shoulder dystocia (risk factors: maternal diabetes and obesity + baby >4 kg). Damage to C8 and T1.
CLAW HAND + no grasp reflex (ERB-DUCHENNE HAS INTACT GRASP REFLEX - involved 5th and 6th cervical nerves).
Horner syndrome
Tx: can be permanent, but physical therapy to prevent contractures.
What marks B-cell deficiencies?
start at 6 months after mom’s antibodies are gone. lack of IgA leads to giardia. Lack of other stuff leaves encapsulated organisms like sinopulmonary infections like H influenzae and Strep pneumo
What is the mnemonic for DiGeorge
C - conotruncal cardiac defects A - abnormal facies T - thymic aplasia/hypoplasia C - cleft palate H - hypocalcemia
22.11.2 deletion leading to defective development of pharyngeal pouches.
What are hallmarks of leukocyte adhesion deficiency?
- delayed separation of the umbilical cord
- recurrent bacterial infections of skin and mucosa
- necrotic periodontal infection
Prader Willi. What is the genetic defect? What is presentation? What are complications?
It is due to maternal uniparental disomy (i.e. LOSS of paternal 15q11-q13). ALMOND SHAPED EYES + downturned mouth. hypotonia, weak sucking, short stature, hypogonadism, intellectual disability,
complications? sleep apnea T2D gastric distension/rupture death by choking these kids are SUPER obese
clubfoot description and tx
presents with equinus and varus of calcaneum and talus, varus of midfoot, and adduction of the forefoot.
Stretching, manipulation, serial casting IMMEDIATELY
What is clinical manifestation of reye syndrome? What brings it on.
Pathology in the liver?
Lab findings?
kids <15 years old treated with aspirin during a varicella or flu infection
Clinical features: acute liver failure and encephalopathy (presentation of vomiting, agitation, irrational behavior progressing to lethargy, stupor, and restlessness)
Pathology: bx of liver, kidney, brains shows microvesicular steatosis.
Labs:
- increased transaminases
- increased PT, INR, PTT
- increased ammonia
treatment: supportive