UW - Pediatrics Flashcards
What are the main clinical features of DiGeorge syndrome, and which tests need to be ordered immediately?
- conotruncal cardiac defects, abnormal facies (micrognathia), absent thymus, hypocalcemia (from PT gland maldevelopment), cleft palate
- get echo and labs right away (hemodynamic decomp, and risk of seizures from low Ca), give vaccines
What dysfunction is seen in cerebral palsy, what puts infants at greatest risk for developing this?
- Nonprogressive motor dysfunction (spastic, dyskinetic, ataxic) often associated with intellectual disability and vision/hearing/speech impairments
- Prematurity carries greatest risk, usually resulting in spastic diplegia
What positive effects may IV Mg sulfate have on the fetus in utero?
decreased risk of motor dysfunction and cerebral palsy
What are indications for head imaging in a child presenting with headache?
- Hx of coordination problems, numbness, tingling or other focal neuro signs
- Hx of increasing HA frequency and frequent awakenings from HA severity
What are classic presentation features in children/adolescents with migraine?
-Mod-severe HAs of gradual onset, associated with N/V and photophobia, visual aura preceding
What clinical features are pathognomonic for homocystinuria in a child who has marfanoid habitus?
-Fair hair/eyes, developmental delay, signs of thrombosis (e.g. cerebrovascular accident)
What is the management and treatment of a child presenting with cerebrovascular accident, fair eyes and skin, developmental delay, and marfanoid habitus?
- child with homocystinuria
- give Vit. B6, B12, and folate to lower homocysteine levels
- anti platelet or anti coagulation to prevent thromboembolic accident
What are the common clinical features of Mumps infection? What organs are most likely affected?
- Fever, malaise, parotitis
- testes -> orchitis
- Brain -> meningitis and encephalitis
What is the indication for checking ASO antibodies in patients with signs of possible S. pyogenes infection?
-If signs of PSGN or rheumatic fever develop
What is the first stage of management for isolated impetigo?
Topical Antibiotics like mupirocin
What is the pathology present in Guillan Barre syndrome?
Demyelination of peripheral nerves
What are the components to pediatric beriberi? When does it usually appear?
Between 2-3 months
Fulminant cardiac syndrome - cardiomegaly, tachycardia, cyanosis, dyspnea, vomiting
What is the best management strategy for close contacts of children with pertussis?
Prophylaxis for all household members and close contacts with macrolide antibiotics
What are the usual maternal serum alpha fetoprotein levels?
Elevated
What are the usual maternal serum alpha fetoprotein levels?
Elevated
What are the clinical features of Beckwith-Wiedemann Syndrome? What must patients with this be monitored for?
Overgrowth disorder, characterized by predeliction for neoplasms
- Feral macrosomia and rapid growth, omphalocele or umbilical hernia, macroglossia, and hemihyperplasia
- Abdominal ultrasound for Wilm’s tumor and alpha feta protein levels for hepatoblastoma
How can you differentiate Herpangina from HSV gingivastomatitis?
Herpangina is caused by Coxsackie virus causing gray 1mm vesicles on tonsillar pillars and posterior oropharynx. Can be accompanied by hand and foot lesions
Seasonal spread late summer early fall
What laboratory values are seen with pertussis infection?
Elevated WBC with lymphocytic predominance
What is the immunization schedule for pertussis? What is unique about this vaccine?
Five doses of DTaP given between 2 months and 6 years, TdaP boosters given during adolescence (age 11- 18) and during pregnancy
It does not provide lifelong immunity
What is the mechanism of injury in shaken baby syndrome and what can result?
Repetitive acceleration/deceleration forces cause shearing of dural veins and coup-contrecoup injury –> leads to subdural bleeding manifesting as seizures, increased head circumference, bulging fontanelles, AMS, retinal hemorrhages (which is pathognomonic for abusive head trauma!!)
What is the most common cause of bowel obstruction in peds age 6-36 months and how do they usually present?
Intussusception - periodic pain (from intermittent telescoping) causing pt to draw up legs, emesis (nb to bilious later), occult bleeding -> gross blood
What is the location intussusception usually presents in? What is seen on the main mode of imaging?
RUQ from telescoping at leadpoint of ileocecal valve
Target sign on abdominal US
Which areas have the highest incidence of infant botulism and why?
California, Pennsylvania and Utah, because of high concentrations of spores in environmental dust (e.g. from construction sites)
What exam finding gives strong evidence for intentional scald injury?
Sparing of flexor surfaces, uniform depth of burns in well demarcated regions
What is the purpose of the GnRH stimulation test?
Evaluation of precocious pubert
What condition leads to excess LH secretion?
PCOS
What is the most likely cause of irregular menses in young females?
Immature pituitary hypothalamic axis leading to insufficient gonadotropin secretion. High estrogen builds up endometrium, low progesterone doesn’t allow regular menstruation, build up and breakthrough bleeding occurs
What are the laboratory features associated with idiopathic precocious puberty?
Premature activation of hypothalamic-pituitary-gonadal axis (almost exclusively in females)
Basal LH elevated, and continued increase with GnRH stimulation
How can you differentiate ADHD from ODD?
ODD involves more angry/irritable behavior, argumentative/defiant behavior toward authority, temperamental hostile and defiant rule breaker
What is the likely cause of recurrent cystitis in toddlers?
Constipation, leading to stool retention which compresses on the bladder leading to urinary stasis
What is the most common cause of anal fissures in children?
Recurrent constipation
What is the pathophysiology of osgood schlatter disease?
Quadriceps tendon puts traction on apophysis of tibial tubercle (traction apophysitis)
Worsened by sports and heavy physical activity
What is the pathophysiology of slipped capital femoral epiphysis? What is the clinical presentation?
The junction between femoral head and neck (epiphysis) weakens during rapid growth of puberty, when exposed to excessive sheer stress (worsened by obesity) it can fracture and slip posteriomedially
Insidious onset hip or knee pain, limping, loss of abduction and internal rotation, loss of external rotation of thigh when hip is flexed
What skin abnormalities are associated with Celiacs disease? what endocrine and other systemic abnormalities may be found?
Dermatitis herpetiformis, red vesicular rash along extensor surfaces of the body
associated with TIDM, and may also see iron deficient anemia from malabsorption
What are the main clinical features of Wiskott-Aldrich Syndrome?
Thrombocytopenia from decreased production, associated with skin lesions, history of eczema and recurrent infections (strep pneumo, n mening, Hib)
What should be done for isolated proteinuria found on urine dipstick in a pediatric patient?
get at least two more dipstick measurements on two subsequent occasion to confirm transient proteinuria
if subsequent tests are positive refer to nephrologist for workup
What are the physical exam findings of hypertrophic cardiomyopathy?
Carotid pulse with dual upstroke, systolic ejection murmur along LLSB with strong apical impulse
What would increase the murmur intensity in hypertrophic cardiomyopathy? decrease?
increase - maneuvers that decrease preload, like valsalva strain, abrupt standing, nitrate
decrease - maneuvers that increase preload and afterload, thereby increasing LV cavity size, like squatting, leg raise, sustained handgrip
What is the likely cause of acute unilateral lymphadenitis in children?
bacterial, usually staph aureus then group A stress
What is a likely complication of chronic middle ear infections and what clinical features may be present?
Cholesteatoma - ear drainage despite Abx, retraction pocket in membrane fills with granulation tissue and debris,
What is the Hb differential for patients with sickle cell trait, and what is the most common complication experienced by these patients?
Hb A = 50-60%
Hb S = 35-45%
Painless microscopic or gross hematuria
What is the most important intervention for a patient with septic arthritis of a joint?
Emergent surgical drainage, debridement and irrigation of joint space
What is the pathology involved in Niemann-Pick disease?
Sphingomyelinase deficiency
What is the deficiency in Tay Sachs disease and how can you differentiate from Niemann Pick?
Hexosaminidase A
Hyperreflexia, vs areflexia and hepatosplenomegaly in Niemann
What leads to galactocerebrosidase deficiency?
Krabbe disease
What is the presentation for meconium ileus and what diseases are likely associated with this condition?
Signs of SBO, abdomen tense, distended, vomiting, not passing meconium, free air above diaphragm if perffed
almost always CF associated, which means patient at high risk of chronic rhinosinusitis and PNA
Which demographic should always get testing for chlamydia and ghonorrhea?
all sex active women below age 24, anyone with new partner in last two months, multiple partners, history of STIs and illicit drug use, incarceration, and contact with sex workers
Which patients are at risk for giardia and recurrent sinopulmonary infections and why?
Defect in B-Cell maturation, appearing after 6 months when mom antibodies run out
Occurs because no B cells to fight S pneumo and H flu with humoral response, and deficiency of IgA in GI tract
What is the impairment in chronic granulomatous disease and what infections are patients predisposed to?
Defect in NADPH Oxidase system impeding intracellular destruction of bacteria
patients prone to infection and abscess 2/2 catalase + organisms (staph and aspergillus)
What are the clinical features of Kawasaki disease?
Fever x 5 days, bilateral conjuctivae injected with iris sparing, cervical lymph node >1.5 cm, mucositis, coronary aneurysm, swelling and or erythema of hands and soles
What is heterotaxy ?
Intestines begin rotation from an already abnormal position resulting in variable position for final fixation. This variable location and intestinal twisting can lead to volvulus
What are the in utero effects of duodenal atresia? How may neonate’s present?
Failure of intestinal lumen to canalize results in inability to swallow sufficient levels of amniotic fluid leading to polyhydramnios
Postnatally will lead to vomiting, epigastric distention, absence of intestinal bowel gas leading to scaphoid abdomen
What are the main causes of acute pancreatitis in children?
Blunt abdominal trauma followed by idiopathic cause
What is the initial study done for suspected intussusception?
Go right to contrast enema
What is the likelihood of presence of jaundice in children with hepatitis A?
Rare, usually no jaundice
What is the likelihood of presence of jaundice in children with hepatitis A?
Rare, usually no jaundice
What is stranger anxiety?
normal finding before age 3 where toddler/infant shows anxiety towards new people
What is selective mutism?
fear of situations that call for them to speak (school, social gathering)
What is concerning for a patient with a history of GA strep infection who presents with a new heart murmur? What is the management?
Rheumatic fever, must give continuous penicillin prophylaxis for many years to prevent recurrent GAS infections which will complicate rheumatic fever and worsen valvular disease
How should you manage a 46XY adolescent with external female genitalia and testes present?
likely has androgen insensitivity syndrome. testes present are at increased risk of getting disgerminoma and other tumors
wait for puberty so normal development occurs then resect gonads
What is the main complication of cystic fibrosis in young males?
infertility in >95% because of absence of bilateral vas deferens
What is the management for children with clear nephrotic syndrome?
Likely minimal change disease, so treat with corticosteroids
If nephritis, age >10, or not responding to corticosteroids, consider renal biopsy
What is the clinical presentation of rubeola (measles)?
Prodrome: Fever, maliase, anorexia; conjuctivitis, coyza, cough, koplik spots
Exanthem: Blanching red/brown maculopapular rash, with cephalocaudal spread, sparing palms/soles
What are the indications for renal and bladder ultrasound?
-Infants and children
What is refeeding syndrome and what complications may develop?
When a body resumes feeding after prolonged starvation there is a surge in INSULIN, resulting derangements as multiple electrolytes are transported intracellularly:
- Cardiac arrhythmias from K+ and Mg+ deficiency and atrophic heart –> Cardiopulmonary failure (REPLETE ELECTROLYTES APPROPRIATELY)
- Seizures and Wernicke’s encephalopathy can also develop
What are the clinical features of growing pains?
- Mostly at night, resolves by morning
- Lower extremity (thighs, calves) and bilateral
- Normal physical exam and acitivity
What are the clinical features of Friedreich ataxia and what is the most common cause of mortality?
- Neuro manifestations: gait ataxia, falls, dysarthria
- Concentric hypertrophic cardiomyopathy, diabetes, skeletal deformities
- -> Cardiac failure and respiratory complications are usual cause of death
What are the laboratory findings in henoch schonlein purpura?
- Normal platelets and coags
- Normal to Increased Cr
- Hematuria +/- RBC casts +/- proteinuria
What vaccination in patients with sickle cell disease can be a major factor in preventing death?
Conjugate capsular polysaccharide vaccine to protect from encapsulated organisms (S. pneumo, H flu, N mening)
After what age is it appropriate to employ tools such as enuresis alarms and/or desmopressin for nocturia?
May use in children >= to 5 yo (before this age continence, especially night time continence, may take some time to develop)
Asside from cardiac and reproductive abnormalities, what other problems are patient’s with Turner’s syndrome at risk of developing and why?
Osteoporosis, due to low levels of estrogen from gonadal dysgenesis
What are mongolian spots and which patients get them?
Congenital dermal melanocytosis, benign flat, blue-grey patches on lower back and buttocks
Common in African, Asian, Hispanic and Native American infants
What are the most common causes of aplastic anemia in children?
Congenital, of which Fanconi anemia is the most common (caused by chromosomal breaks)
What are the clinical features of Fanconi anemia?
Bone marrow: aplastic anemia, progressive BM failure
Appearance: short, microceph, abnormal thumbs, hypogonadism
Skin: Hypo/Hyperpigmented areas, cafe au lait spots, large freckles
Eyes/Ears: Strabismus, low set ears, middle ear abnormalities (deafness, infection, hemorrhage)
What are Heinz bodies and when are they usually found?
Aggregates of denatured hemoglobin
Seen in G6PD deficiency and Thalassemias (may form bite cells)
What is Legg-Calvé Perthes disease?
Idiopathic avascular necrosis of femoral capital epiphysis
McCune-Albright syndrome?
Precocious puberty, pigmentation- cafe au lait spots, multiple bone defects (polyostotic fibrous dysplasia)
Can be associated with ACTH secreting pituitary tumors causing Cushing’s syndrome
What are the characteristic features of neurofibromatosis 2?
Bilateral acoustic neuromas and cataracts
What are the features of niacin deficiency?
Pellagra - diarrhea, dermatitis, dementia (and death if severe)
What features are indicative of an osteoid osteoma?
Occurs in adolescence, proximal femur, pain that is relieved with NSAID, small round lucency with sclerotic margins on XRay
What are the features of osteosarcoma on XRay?
Destruction of normal bone pattern, indistinct margins, mixture of radiodense and radiolucent areas
What is the treatment and management of neonatal clavicular fracture?
Reassurance and gentle handling, they heal quickly and spontaneously
What is the most likely cause of intussusception in older children (especially if recurrent)?
Meckel’s diverticulum
What are the clinical features of Riboflavin deficiency? What may lead to this?
Lack of dairy, egg, meat, and green vegetables:
- Angular cheliosis, stomatitis, glossitis
- Normocytic anemia
- Seborrheic dermatitis
What are the most common causes of neonatal conjunctivitis in the US?
Chemical, gonococcal, chlamydial
How can you differentiate gonococcal vs. chlamydial neonatal conjuctivitis? How do you treat?
- Chlam onset at 5-14 days, Gon at 2-5 days
- Corneal edema and ulceration in Gon, chemosis in chlam
- Oral erythromycin in chlam, IV/IM Ceftriaxone in Gon
What is the utility of topical erythromycin applied to the eyes?
Ppx of neonatal conjuctivitis from N. gonorrhea
What does bone age show in patients with constitutional growth delay?
Late bloomers, bone age is younger than pt age
What may be good indication for checking thyroid labs in a pediatric patient presenting with growth delay?
Sudden rapid drop from growth curve, other hypothyroid symptoms like fatigue, constipation, cold intolerance, and dry hair and skin
What is the difference between Becker and Duchenne muscular dystrophy?
- BMD is milder form, reduced but not absent dystrophin
- BMD muscle weakness is later in childhood (onset at 2-3 in DMD)
- Death by age 40-50 from heart failure in BMD (20-30 in DMD)
What are the clinical features of laryngomalacia?
Noticeable at 4-8 months, caused by increased laxity of supraglottic structures –> collapse during inspiratory phase
-Stridor loudest in supine position, and improves when held upright or prone
What clinical sign is highly suggestive of vascular rings?
young infant with persistent stridor that improves with neck extension
-may have wheezing, cough, dysphagia or difficulty feeding (esophageal symptoms present)
What determines further workup if suspecting developmental dysplasia of the hip in infants?
- Check for Barlow and Ortolani sign, if positive refer to ortho, if negative:
- Xray if age > 4 - 6 months
- ultrasound if age 2 weeks to 6 months
What signs are suggestive of acquired torticollis? How should this be managed?
- Decreased appetite, neck swelling, and irritability; head rotated slightly to one side, resists passive flexion of neck
- Must get XRay of neck to ensure no C-spine fracture or dislocation
What may lead to acquired torticolllis?
Relatively common condition caused by, URTI, minor trauma, cervical lymphadenitis, and retropharyngeal abscess
What may decrease the risk of respiratory distress syndrome?
Intrauterine stress which stimulates early fetal lung development
-e.g. intrauterine growth restriction, maternal HTN, chronic stress from prolonged rupture of membranes
What increases the risk for respiratory distress syndrome?
1 is prematurity, followed by male sex, perinatal asphyxia, maternal diabetes, C-section w/o labor
What sings and symptoms are consistent with congenital hypothyroidism?
- Presents some weeks after birth once maternal hormone levels wear off
- Apathy, weakness, hypotonia, large tongue, sluggish movements, abdominal bloating, umbilical hernia
- pathological jaundice, difficulty breathing, noisy respiration, hypothermia, and refractory macrocytic anemia
What may be the cause for intact RBCs and hematuria in patient with sickle cell disease?
Renal papillary necrosis
What are recurrent sinopulmonary infections, chronic cough, nasal polyps, and digital clubbing in setting of parental cosanguinity suggestive of? What is the gold standard for diagnosing this disease?
Cystic fibrosis
Sweat testing with quantitative pilocarpine iontophoresis
What do pink stains or “brick dust” on newborn diapers suggest?
Uric acid crystals, commonly seen in first week as mother’s milk is coming in
What are the clinical features of cystic fibrosis?
- Chronic sinopulmonary disease (PNA, bronchiectasis, nasal polyps)
- GI and nutrition abnormalities (pancr insufficiency, meconium ileus, FTT)
- Salt loss syndromes (acute salt depletion, chronic metabolic alkalosis)
- Male urogenital abnormalities (obstructive azoospermia)
What are the typical findings on peripheral smear in a patient with sickle cell disease?
sickled red cells, polychromasia, Howell-jolly bodies, increased reticulocytes
What may elevated blast cells on peripheral smear suggest?
Acute leukemia
what is the most prevalent rabid animal in the US?
raccoon
What lab findings are seen in adenosine deaminase deficiency?
lymphopenia
what are patients with agammaglobulinemia?
infection with encapsulated organisms
What are the features of laryngomalacia?
insoiratory stridor, worsens when supine, cries when sleeping, improves in prone position, peaks at 4-8 months
What type of children will be at risk of precocious puberty irrespective of race or congenital defects?
obese kids, because of excess hormone production from adrenals
what are the clinical features of alport syndrome?
neohritic syndrome, sensorineural hearing loss, history of renal disease in family
When is doxycycline contraindicated? what can be used instead?
children
How can you differentiate pineal tumors from medulloblastoma?
visual disturbances with pineoma, ataxia + visual and hydro sx in medulloblastoma
What is the treatment for inherited long QT syndromes?
refrain from physical activity, propranalol and pacemaker, maintain stable K, Ca, Mg levels, avoid meds that may prolong qt
What are the features of Pompe’s disease?
Acid maltase deficiency (Type 2, glycogen storage do) - present w/in first few weeks of life, as floppy baby, w/ macroglossia, hepatomegaly, feeding difficulties and heart failure
How can you differentiate type 1 glycogen storage deficiency from type 3?
- Similar clinical features of hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation
- Type 3 (debranching enzyme) have elevated LFTs, fasting ketosis,
- Type 1 (G6phosphatase) has elevated lactate, uric acid, cholesterol and triglycerides
What may be the presentation of juvenile angiofibromas?
-Recurrent nosebleed, localized mass at back of nose with bony erosion
What is the treatment for OCD? How does it change if caused by PANDAS?
CBT and/or high dose SSRI, same for pandas
What is the treatment for unilateral cervical adenitis in children? (if acute onset with associated cellulitis)
Cause is staph aureus use Clindamycin
What murmur feature is worrisome for pathologic murmur?
Harsh, holosystolic or diastolic
Grade III intensity or higher
INcreases with standing and valsalva
What is the most important next step in management after diagnosing guillain barre syndrome?
Assess pulmonary function with serial spirometry, as neuromuscular respiratory failure is most life threatening complication
What should be evaluated in infants and toddlers with cyanotic breath holding spells?
Check CBC and serum ferritin because often this is associated with iron-deficiency anemia
