UWorld Tidbits Flashcards
6 yo, not previously varicella vaccinated, boy: visited cousin w/ chicken pox 1 week ago
Next best step?
Tell parents to look out for rash w/in next 2 weeks
- varicella vaccine only beneficial if administered w/in 3-5 days post-exposure
- VZIG (prophylactic immunoglobulin) only helps w/in 72 (max 96 hrs) (3-4 days)
9 yo w/ sudden onset writing and jerky movements
- mild sore and fever last week
- pericardial friction rub and subcutaneous nodules over the hands
(a) Diagnosis
(b) Etiology
(c) Tx
(a) Acute rheumatic fever five major criteria
1. polyarthritis
2. carditis
3. chorea
4. subcutaneous nodules
5. erythema marginatum
then often have: fever and arthralgia
(b) Strep A pharyngitis
(c) Tx = PenG
Scrotal swelling, hematuria, abdominal pain
-what to watch out for next
HSP: palpable purpura + scrotal swelling + hematuria + abdominal pain
-Children w/ HSP are susceptible to intussusception
12 yo M w/ back pain for several months, bed wetting, and decreased sensation to perianal area
-palpable ‘step-off’ at the lumbosacral area
Spondylolisthesis = forward slip of a vertebrae (most commonly L5 on S1) that causes chronic back pain and when severe neurologic deficits and palpable step off
16 yo Sick cell pt presents w/ DOE, fatigue, generalized weakness
Folic acid deficiency
-such high turnover => need more folate
Symptoms of niacin deficiency
Niacin (vit B3) deficiency => pellagra
-diarrhea, dermatitis, dementia, glossitis
-dermatitis in sun exposed areas (resembles sunburn) is bilateral and symmetric
Newborn that sounds like a cat when he cries
- moon facies
- microcephaly
- high arched palate
Cri-du-Chat syndrome = deletion of 5p
What vitamin shot do babies receive at birth and why?
Vitamin K
B/c human’s only get vit K from food (not a lot of vit K in breast milk) and gut flora (not yet developed in children)
Workup for leukocoria
Leukocoria (white pupillary reflex) is retinoblastoma until proven otherwise!!!!
=> refer to opthalmologist
Presentation of IgA deficiency
(a) Risk of transfusion in ppl w/ IgA deficiency
IgA deficiency is most often asymptomatic, but may present w/ recurrent sinopulmonary (strep and hemophilus) and GI (giardia) infxns as a consequence of IgA’s role in mucosal barrier protection
(a) Pts may form antibodies to IgA- predisposing them to anaphylactic transfusion rxns
How does midgut volvulus present?
Midgut volvulus associated w/ malrotation of the gut, can be complicated by perforation and peritonitis
-usually presents in child
Describe anemia of prematurity
Most common anemia in premature and low birth weight infants
- diminished RBC production, shortened RBC lifespan, blood loss
- see normocytic normochromic anemia, low retic count
- normal WBC, platelets, and bilirubin
Differentiate traction apophysitis and patellar tendonitis
Traction apophysitis- more common in peds population (since can be due to growth patterns)
-pain reproduced by knee extending against resistance
Paterllar tendonitis- common as you get older b/c it’s from overuse
-pts have point tenderness at inferior pole of the patella
7 day old neonate w/ 2 days of jaundice and poor feeding
Next step
Blood cultures and LP = work up for meningitis
-jaundice in first 3-7 days can indicate bacterial sepsis or UTI in neonates
14 yo AA boy w/ limp and r. hip pain
-HCT 22%
Osteonecrosis = avascular necrosis
-present in up to 50% of pts homozygous for sickle cell gene
Risk factor for hip subluxation
LGA
13 yo w/ progressive muscle weakness for 2 mo
- temporal wasting, thin cheeks, emaciated extremities, thenar and hypothenar atrophy, upper lip in shape of inverted V
- delayed relaxation
(a) Diagnosis
(b) Delayed relaxation?
(c) Mode of inheritance
(a) Myotonic muscular dystrophy
(b) Myotonia = delayed relaxation
- classic example = can’t release hand after handshake
(c) Autosomal dominant
Describe cyclic vomiting
(a) Associated finding
Cyclic vomiting = recurrent episodes of self-limited nausea and vomiting w/ no other factors indicating something else
(a) Often associated w/ history of migraines
Gait disturbance, pes cavus, ataxia, absent ankle jerks
Friederich’s ataxia
Most common type of strabismus
(a) First step of tx
50% of cross eye cases are esodeviation = medial deviation of the eye
(a) Cover the normal eye to force the affected eye to correct itself => allows proper visual maturation
9 mo old AA boy w/ swelling of hands and feet for 2 days
Mechanism?
Hand-food syndrome = dactylitis = earliest manifestation of vaso-occlusion in SC
Why are sickle cell pts often on prophylactic abx?
Due to splenic infarction they’re essentially asplenic by 2-3 yoa => very susceptible to infection by capsulated organisms (strep pneumo and H. influenza) => prophylactic abx
Tongue fibrilliations w/ hypotonia and normal social/language skills
Infantile SMA (spinal muscular atrophy) = Werdnig-Hoffman’s
1 yo boy w/ bruising and blood in stool
- multiple otitis medias + 2 pneumonias
- dry, scaly patches on cheeks and lower extremities
Wiskott-Aldrich Syndrome: X linked hereditary d/o
Presents in boys during early childhood w/ a tendency to bleed due to thrombocytopenia; recurrent bacterial viral and fungal infections due to immune deficiency, and eczema
9 yo overdosed on gmas meds, presents w/ seizures, hypotension, prolonged QRS complexes
(a) Tx
Hypotension, seizures, and prolonged QRSs indicative of tricyclic antidepressant intoxication
(a) Sodium bicarbonate to reverse acidosis
1 week old w/ noisy breathing but otherwise normal respiratory exam
Advice for parents?
Most common cause of chronic inspiratory noise in infants = laryngomalacia = congenital flaccid larynx
- bronco finding = epiglottis rolling from side to side
- advice for parents: it’ll get better w/ age, never feed child while lying down and keep child upright for 30 mins after feeding
Cystic calcified parasellar lesion
Calcified lesion above the sella = Craniopharyngioma = cancer from pituitary gland tissue
2 day old infant who is irritable, feeding poorly, sneezing, w/ high-pitched cry
NAS = neonatal abstinence syndrome
-newborn in withdrawal from mother’s opiates
Splenic sequestration crisis
(a) Physiology
(b) Retic count
(c) Presentation
Splenic sequestration crisis
(a) Due to vaso-occlusion and pooling of RBC in the spleen
(b) High retic count- bone marrow compensating
(c) Presents w/ rapid enlarging spleen, possibly in hypotensive shock
Conjugated hyperbilirubinemia, light colored stool, hepatomegaly
Biliary atresia
-light colored stool + hepatomegaly indicates impaired hepatic excretion of bile
Severe pain
- poikilothermia
- paresthesias
(a) What is it?
(b) What symptoms come next?
Poikilothermia = inability to maintain temp independent of ambient temperature
(a) Compartment syndrome
(b) Late findings: pulselessless and paralysis
Use of topical steroids for conjunctivitis
Topical steroids can be used in allergic or viral (typically adenovirus) conjunctivitis
-no use for bacterial conjunctivitis
Treatment for ITP
Depends on symptoms
If only have skin manifestations (just purpura, no bleeding)- watch and wait: will usually self resolve within 6 mo
If bleeding: give IVIG or glucocorticoids
Differentiate lab findings of Common variable immunodeficiency and Hyper IgM Syndrome
Common variable immunodeficiency: all Ig lines are low, normal T and B cell numbers
Hyper IgM: IgM high, IgG and IgA are low, T and B cells diminished
Infant w/ left calf atrophy, left calcaneum and talus in equinus and varus positions
(a) Treatment
No idea what any of this means but common foot deformity in newborns = Clubfoot
(a) Stretching, manipulation, and serial casting
- only resort to surgical if those fail (which usually they don’t)
- tx should be started immediately
Advantage of human breast milk over formula in addition to antibodies
Human milk’s major source of protein is whey, more easily digested than casein (cow’s milk) => helps to improve gastric emptying
Compare and contrast ITP and Wiskott-Aldrich syndrome
Both can present w/ thrombocytopenia- easy bruising and petechiae
But then in addition Wiskott-Aldrich has associated skin findings (eczema) and recurrent infxns (due to immune deficiency)
Bluish-white spots on buccal mucosa
Bluish-white spots on buccal mucosa = Koplik spots of Rubeola (Measles)
Most common fracture in the pediatric population
(a) Complication
(b) Physical exam finding
Most common fracture of the pediatric population = supracondylar fracture
ex: fall on outstretched arm
(a) Entrapement of the brachial artery =>
(b) Loss of the radial pulse
After fracture is reduced, need to reassess and see if radial pulse is intact
Locate the lesion:
12 yo unable to walk
- couldn’t move legs in the morning
- thigh pain in the afternoon
- absent DTRs
- episode of febrile diarrhea 10 days ago
Peripheral nerves
Guillain Barre Syndrome: symmetrical ascending paralysis, decreased DTRs- following viral infection
Hypsarrhythmia on EEG
Pathognomonic finding for Tuberous sclerosis
Positive osmotic fragility test
Hereditary spherocytosis
-jaundice at birth
Give the components of the Apgar scoring
A for appearance
0- cyanotic
1- body pink, acrocyanosis
2- body and extremities pink
P for pulse
0- no HR activity
1- HR under 100
2- HR over 100
G for grimace
0- no response to stimulation
1- grimace
2- cough or cry
Activity/tone
0-limp
1- some flexion of extremities
2- active flexion of extremities
Respirations
0- completely absence
1- slow and irregular
2- good respiratory effort
Differentiate the lymphadenopathy seen in EBV vs. Staph aureus infection
EBV lymphadenopathy- subacute, bilateral, and w/ systemic symptoms
Staph aureus = most common bacteria cause of lymphoadenopathy- acute unilateral
Differentiate atonic seizures from absence seizures
Atonic seizures- sudden loss of postural muscle tone lasting 1-2 seconds
Absence seizure = generalized seizure of sudden and brief lapses of consciousness w/o loss of postural control
Which congenital abnormalities are the following heart defects associated with?
(a) ASD
(b) VSD
(c) Supravalvular aortic stenosis
(d) Conotruncal abnormality
(e) Congenital heart block
Congenital abnormalities and associated heart defects
(a) ASD- trisomy 21 (Down’s)
- along w/ endocardial cushion defect
(b) VSD- Trisomy 18 (Edward’s)
(c) Supravalvular aortic stenosis- William’s (microdeletion chr7)
(d) Conotruncal abnormality- DiGeorge syndrome (microdeletion chr22)
(e) Congenital heart block- Neonatal lupus
Iron deficiency anemia
(a) RDW
(b) MCV
(c) TIBC
(d) retic count
Iron deficiency anemia
a) RDW high ( > normal 17
(b) MCV- low erythropoiesis
(c) TIBC high
(d) Retic count low
Location of medulloblastoma
Cerebellar vermis
2 yo w/ recurrent sinusitis and CXR revealing heart on the right side
Kartagener’s syndrome = auto recessive d/o due to dysmotile cilia
Triad
- situs inversus
- recurrent sinusitis
- bronchiectasis
What to do when the next DTaP is up:
first DTaP caused 2 minute seizure
Administer diptheria and tetanus toxoids, avoid pertussis component
-adverse rxns to DTaP are usually due to the pertussis component
Indication for mechanical ventilation in an asthmatic
Severe exacerbation- refractory severe wheezing
- no response to nebulizers, IV steroids, or supplemental O2
- no airway entry bilaterally = ‘silent chest’
Sickle cell pt w/ fatigue and pallor, what is the most likely type of anemia?
Hemolytic anemia
-SCD pts are chronically hemolyzing the sickled RBCs
3 yo M w/ gout
Defect in purine metabolism, Lesch Nyan syndrome = X linked recessive
-deficiency in HPRT enzyme
Traction apophysitis
Traction apophysitis = Osgood-Schlatters
- adolescent males
- pain reproduced by knee extending against resistance
Features of Lesch-Nyan syndrome
Lesch-Nyan = X-linked recessive HPRT (purine metabolism) deficiency => build up of purine/uric acid
-presents at 6 mo w/ hypotonia and vomiting, then worsens w/ neurological findings (MR), self-mutilation, and gouty arthritis/tophi
Drug of choice for
(a) Infantile spasms
(b) GTCs
(c) Absence seizures
(d) Status epilepticus
Drug of choice for
(a) Infantile spasms = intramuscular ACTH
(b) GTCs: carbamazepine, phenobarbitol
(c) Absence seizures: ethosuximide
(d) Status epilepticus = phenytoin
What is osteogenesis imperfecta?
Autosomal dominant d/o caused by defect in type I collagen
Cyclic fevers, chills, headache every 2-3 days
Cyclic/paroxysmal flu-like symtpoms/fever = Malaria!!
Febrile paroxysms parallel the waves of RBC invasion when parasites are released by the liver into the bloodstream
Pt w/ malar rash and arthralgia
-(+) ANA and (+) RPR
(a) Next step
(+) ANA + malar rash and arthralgia = SLE
-lupus is associated w/ false positive results for RPR and VDRL tests (both syphilis tests)
(a) Next step = do anti-Smith antibody test to confirm SLE
Newborn w/ HSM, jaundice, anemia, rhinorrhea, and cutaneous lesions on palms and soles
Congenital syphilis
Name 2 things that can increased risk for RDS
- prematurity
2. maternal diabetes- delays maturation of surfactant production
Rule of 2s for Meckel’s diverticulum
- M:F 2:1
- occurs in 2% of the population
- about 2% have lifetime complications
- happens 2 ft from the ileocecal valve
- 2 in long
List the 4 main features of Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome = X linked hereditary d/o
- immune deficiency => presents w/ recurrent bacterial viral and fungal infxns
- tendency to bleed due to thrombocytopenia (due to impaired platelet production) => bruising, blood in stool
- eczema
- increased risk of autoimmune d/o and malignancy
What is a vascular ring?
Congenital defect in which the aortic arch and/or its branches completely encircles the trachea and esophagus => present w/ breathing and/or swallowing difficulties
Pt w/ pharyngitis, moderate fever, dysphagia, neck stiffness, muffled voice, posterior pharyngeal bulge
Retropharygneal abscess
2 day old cyanotic M
- holosystolic murmur at LLSB, single S2
- CXR: decreased pulmonary vascular markings and normal-sized heart
- EKG: left axis deviation
Tricuspid atresia
Left axis deviation indicating LVH b/c LV is dealing w/ both systemic and pulmonary returns
Differentiate the presentation of the following etiologies of back pain in children
(a) ankylosing spondylitis
(b) spondylolisthesis
Back pain in children- always is concerning!
(a) ankylosing spondylitis = type of arthritis affecting the spine and surrounding tissues => gradual onset
(b) spondylolisthesis- lumbosacral backpain w/ neurologic symptoms: tingling and numbness, can present more acutely
Differentiate CSF white cell count values for viral vs. bacterial meningitis
Viral meningitis- lymphocyte predominance
Bacterial- neutrophil predominance
18 yo w/ SCD presents w/ sudden onset of dyspnea, weakness, fatigue, and pallor.
- denies fever or CP
- clear lungs, normal CXR
Aplastic crisis = transient onset of erythropoeisis, most commonly associated w/ infection (most commonly parvovirus B19)
Buzzword: infected umbilical stump
Infected umbilical stump- buzzword for tetany
10 yo boy w/ abdominal pain and bloody diarrhea
- jaundice and pale
- abdominal tenderness and 2+ pedal edema
(a) Etiology
HUS = hemolytic uremic syndrome
- bloody diarrhea
- red cell hemolysis => jaundice
- thrombocytopenia
(a) E. coli
3 P’s of McCune Albright syndrome
- precocious puberty- accounts for 5% of precocious puberty in females
- Pigmentation: cafe au lait spots or coast of Maine hyperpigmentation
- polyostotic fibrous dysplasia
- bone abnormality => common fractures
Symptoms caused by mutation in
(a) Fibrilin-1 gene
(b) Defect in collagen structure
(c) Hexosaminidase A
(d) glucocerebrosidase
(e) sphingomyelinase
(f) frataxin
(a) Mutation in fibrillin-1 gene =Marfan’s
(b) Defect in collagen structure = Ehler-Danlos syndrome
(c) Deficiency in hexosaminidase = Tay-Sachs
(d) Mutated glucocerebrosidase = Gaucher’s disease
(e) Mutated sphingomyelinase = Niemann-Pick’s disease
(f) Frataxin = Friedreich’s ataxia
Symptoms of cyanocobalmin deficiency
Cyanocobalamin (vit B12) causes macrocytic anemia and peripheral anemia
Pneumatosis intestinalis
= gas in the bowel wall, ominous finding for ischemia
Abdominal Xray demonstrating pneumatosis intestinalis = NEC (necrotizing enterocolitis) in neonates, especially if preterm
CNS tumor associated w/ premature puberty in boys
Pinealoma- causes interruption of hypothalamic inhibiting pathways => endocrine syndrome
Features of Beckwith-Wiedemann syndrome
(a) Complications
Beckwith-Widemann = overgrowth d/o present at birth
Macrosomia (LGA), macroglossia, visceromegaly (liver and kidneys), omphalocele, hypoglycemia, and hyperinsulinemia
(a) Increased risk of childhood cancer- Wilm’s (nephroblastoma), pancreatoblastoma, and hepatoblastoma
What is dactylitis?
Painful swelling of hands and feet
-complication of SCD
Differentiate number of heart sounds in children vs. adults
In children and young adults S3 is a normal finding on auscultation
Hypersegmented neutrophils are seen in what diseases?
Hypersegmented neutrophils are seen in folate and vitamin B12 deficiency
7 yo w/ sudden growth acceleration, severe cystic acne, coarse pubic and axillary hair
CAH = congenital adrenal hyperplasia
-signs of severe androgen excess
-important to differentiate precious puberty causes: early HPA axis activation (less dramatic) and CAH
Impaired adaptation to darkness, photophobia, dry scaly skin, dry conjunctiva
Vitamin A deficiency
Most common cause of acute gastroenteritis in children
Rotavirus
After what age do you surgically repair umbilical hernias
Surgically repair umbilical hernias if not gone by 3-4
- most will disappear spontaneously by 1 yoa
- also remove if enlarges after 1-2 yoa, causes symptoms, becomes strangulated, or exceeds 2 cm diameter
Tx for ITP
Immune thrombocytopenia tx depends on symptoms of bleeding and platelet count (if get CBC)
Pts w/ platelets over 30k usually are asymptomatic (not bleeding, just petechiae) => observe and wait
Pts w/ platelets under 30k or actively bleeding/symptomatic- tx w/ corticosteroids
3 mo old constipated w/ poor feeding
-then ptosis, dilated pupils, diminished DTRs and decreased muscle tone
Infantile botulism
- presents initially w/ constipation and poor feeding
- then later comes cranial nerve abnormalities, diminished DTRs, hypotonia
Features of congenital HIV
Congenital HIV => persistent oral thrush, lymphadenopathy, hepatosplenomaegaly
-later: intractible diarrhea, failure to thrive
Elevated 17-alpha-hydroxyprogesterone in serum
Indicates CAH = congenital adrenal hyperplasia
Tip off for orbital vs. preseptal cellulitis
Tip offs for orbital cellulitis: decreased eye movements, decreased visual acuity, proptosis, double vision
Preseptal cellulitis: eyelid, swelling, discoloration, tenderness, erythema
Hypotonia, macroglossia, umbilical hernia, macrosomia
Congenital hypothyroidism
- large head and tongue
- umbilical hernia (not omphalocele as seen in Beckwith-Wiedemann syndrome)
Which type of prematurity is concerning in a female and why?
Differentiate thelarche, adrenarche, pubarche
Adrenarche = onset of androgen-dependent body changes such as axillary hair, body odor, and acne
Thelarche = onset of breast development
Pubarche = onset of groin hair growth
Premature adrenarche and thelarche are unconcerning, premature pubarche is concerning b/c 50% of cases may be due to CNS disorder
Cardiac abnormality seen in Marfan syndrome
Aortic root dilation
Most common causes of viral meningitis
Non-polio enteroviruses: echoviruses and coxsackieviruses
Until what age is bedwetting medically normal?
Anytime before age 5 bedwetting doesn’t indicate any medical workup
=> reassure parents
Why do SGA infants have an increased risk of polycythemia
Polycythemia (high Hgb) b/c hypoxia stimulates EPO secretion => increased RBC production
Most common cause of neonatal sepsis
GBS
Common bony complication of sickle cell
Osteonecrosis (avascular necrosis of the bone) due to vaso-occlusion of the bone
- significant joint pain
- most frequently humerus and femur
Most common congenital anomaly of the GI tract
(a) Presentation
Meckel’s diverticulum
(a) Often asymptomatic, then sometimes presents in children w/ painless rectal bleeding
CXR findings of
(a) Truncus arteriosus
(b) Ebstein’s anomaly
(c) Tricuspid atresia
CXR findings
(a) Truncus arteriosus- cardiomegaly
(b) Ebstein’s anomaly- hugeeeee heart w/ enlarged RA
(c) Tricuspid atresia- normal sized heart
Organism:
Meningitis + petechiae
Meningococcus
-75% of pts w/ meningococcal meningitis present w/ petechial rash
A history of intussusception contraindicates which vaccine?
Rotavirus- b/c rotavirus slight increases the risk of intussuception => if you have a history you can’t take the vaccine
2 yo w/ drug cough, fever, runny nose w/ wheezing and tachycardia
+ for respiratory syncytial virus
Slight risk of developing what?
Bronchiolitis = 1st episode of wheezing episode associated w/ URI (RSV)
-increased risk after RSV infection of asthma
FSH/LH levels in
(a) Central precocious puberty
(b) Peripheral precocious puberty
-Give an example of each
FSH/LH levels
(a) Central precocious puberty = early activation of the HPA axis
- have high FSH and LH
(b) Peripheral precocious puberty = CAH
- have low FSH and LH
- high testosterone gets peripherally converted into estrogen, estrogen has negative feedback to decrease FSH/LH secretion
Presentation of Diamond-Blackfan anemia
Pallor w/in first few months of life
-often congenital abnormalities (ex: webbed neck, cleft lip, shielded chest): triphalangeal thumbs
Diamond-Blackfan anemia = congenital red cell aplasia
Findings of compartment syndrome
(a) early
(b) late
Compartment syndrome: extreme pain, poikilothermia (inability to maintain internal temperature independent of ambient temp), paresthesias
(b) Late findings: pulselessness and paralysis
Prophylaxis of the following in SCD pts
(a) Aplastic crisis
(b) Pain crisis
Prophylaxis in SCD
(a) Aplastic crisis- folic acid supplementation
(b) Pain crisis- hydroxyurea to stimulate HbF production
What does axis deviation indicate on EKG?
Axis deviation indicates ventricular hypertrophy
Ex: Left-axis deviation indicates LVH (such as seen in tricupsid atresia)
2 yo boy in acute respiratory distress
- afebrile, Sa02 84%
- CXR: hyperinflation of right lung, mediastinal left shift, severely hypoinflated left lung
Tx
Foreign body aspiration
Direct laryngoscopy (for visualization) and rigid bronchoscopy (foreign object retrieval)
1 yo presents w/ nuchal rigidity and positive Brudzinsky
- petechiae and purpura
- dies
(a) Cause
(b) Mechanism
Meningitis + petechiae = meningococcal meningitis
(a) In fulminant meningococcemia look out for Waterhouse-Friederichsen syndrome
(b) Adrenel gland hemorrhage causing sudden vasomotor collapse and skin rash
Marfan’s syndrome + thromboembolic events (ex: stroke)
Homocystinuria- cystathione synthase deficiency
Differentiate the growth chart of hypothyroidism and constitutional growth delay
Hypothyroidism- normal childhood growth w/ abrupt falling off the growth curve when the condition develops
Constitutional growth delay- around 3 years of age child remains a normal growth velocity and follows the growth curve at the 5th-10th percentile (so never on normal growth curve) Puberty and adolescent growth spurt are delayed but do eventually occur and child reaches adult height
Differentiate chlamydial and gonococcal conjuncitivities
(a) Age
(b) Presentation
(c) Treatment
Conjunctivitis
Chlamydial
(a) 5-14 dol
(b) Presents w/ mucopurulent (m in chlamydia) discharge
(c) Tx- ORAL erythromycin (not drops) to reduce risk of chlamydial pneumonia
Gonococcal
(a) 2-5 dol
(b) Purulent discharge
(c) Tx for Ceftriaxone + azithromycin
Communicating vs. noncommunicating hydrocephalus signs on CT
CT findings:
Communicating hydrocephalus = blocked absorption of CSF thru arachnoid villi => see dilation of the entire ventricular system and enlargement of the subarachnoid space
Noncommunicating/obstructive hydrocephalus = blockage that prevents flow to the subarachnoid space
- would see only a specific part of the ventricular system dilated
- wouldn’t have dilated subarachnoid space
First step in management when see male infant w/ scaphoid abdomen
Scaphoid abdomen = buzzword for diaphragmatic hernia
1st step = place orogastric tube to
- determine position of the stomach
- provide continuous suction to prevent bowel distention and lung compression
Most common cause of hemorrhage
(a) subdural
(b) subarachnoid
Types of hemorrhage
(a) Trauma = most common cause of subdural hemorrhage in kids
(b) AVM (arteriovenous malformation) = most common cause of subarachnoid hemorrhage in kids
Chronic middle ear infections w/ drainage after multiple abx courses
Cholesteatoma = not a tumor, but destructive and expansive growth of epithelium in the middle ear that presents w/ either drainage and/or hearing loss
-often comes after chronic ear infections despite appropriate abx tx
Classic triad of CRS (congenital rubella syndrome)
- sensorineural deafness
- cardiac malformations
- ex: PDA (machine-like murmur), VSD - cataracts
- white eye reflex
14 day old w/ poor suckling and fatigue
-rigidity, spasms, opithotonus
Opisthotonus = severe hyperextension and spasticity: bridge/arch position
Neonatal tetany!!
Mortality very high due to apnea (in first week of life) and septicemia (in second week of life) due to umbilical stump infection
How does prematurity affect vaccination schedule?
Doesn’t- vaccines given by chronological, not gestational age
Prematurity doesn’t markedly change responses to vaccines
Cause of edema in Turner’s pts
Lymphedema due to abnormal developmental of the lymphatic system
Differentiate diarrhea from shigella vs. rotavirus
Shigella => blood diarrhea, food born pathogen
Rotavirus- not blood diarrhea
Cell of origin for
(a) Wilm’s tumor
(b) Neuroblastoma
(c) Lymphocytic leukemia
Cell of origin
(a) Wilm’s tumor = metanephros
(b) Neuroblastoma = neural crest cells
(c) Lymphocytic leukemia = lymphoid stem cell
Most common cause of CP
Cerebral anoxia at birth
Management of breastfeeding jaundice
Increase feedings to 15-20 minutes every 2 hours
-basically want to increased the amount of breast milk baby is getting to quicken transit time and decrease dehydration
CGG trinucleotide repeats
(a) Disorder
(b) Physical features
(c) Mental features
CGG trinucleotide repeats causing mutation in FMR1 gene
(a) Fragile X syndrome
(b) Features: large low set ears, large testicles (macroorchidism), prominent jaw
(c) MR, poor attention span, autism common
Most common cause of nephrotic syndrome in kids
(a) Kidney biopsy results
Minimal change disease accounts for 80% of nephrotic syndrome in pts under 16
(a) In MCD the kidney biopsy is normal, don’t see anything unless do electron microscopy (foot process effacement)
Classic presentation of Friederich’s ataxia
Mid-teens (ex: 15) w/ ataxia and dysarthria (neurologic symptoms) due to degeneration of the spinal tracts
-skeletal abnormalities such as hammer toe/scoliosis
Age of child:
200 words,
says “me do it” when helped onto table
200 words, correct use of prepositions, combining words into short sentences = 24 mo
Age of onset and clinical presentation of severe Celiac disease
Typically around 12-15 mo when wheat/barley (gluten containing foods) are introduced into the diet
Presents w/ non-bloody diarrhea, FTT, erythamtous vesicles (dermatitis herpetiforms)
Post-strep GN
(a) Presentation
(b) Abnormalities detected on labs
Post-strep GN
(a) Presents w/ hypertension and edema
(b) Lab abnormalities
- high ASO titers
- low C3 and C50 w/ high C4: indicating activation of alternate complement pathway
- urinalysis: hematuria, proteinuria
Tx for
(a) Clavicular fracture
(b) Klumpke’s paralysis
Tx for
(a) Clavicular fracture = reassurance, self-resolves
(b) Klumpke’s paralysis = nerve grafting
Kartagener’s sydnrome
(a) Mode of inheritance
(b) Physiology
(c) Triad of findings
Kartagener’s syndrome
(a) Autosomal recessive
(b) Dysmotile cilia
(c) Triad
1. situs inversus
2. bronchiectasis
3. recurrent sinusitis
Differentiate presentation of stranger anxiety vs. separation anxiety of a kid crying at school
Age
-stranger anxiety comes earlier
Nephrotic vs. nephritic syndrome UA
Nephrotic- proteinuria
Nephritic syndrome- hematuria
Healthy 3 yo boy for help w/ potty training. boy refuses to use the toilet.
Next best step
2-4 yo = range for potty training, and girls before boys
- he may just not have the ability to feel the need to urinate/defecate => need to wait until certain milestones are reached
- for reluctant children: best step is to stop training attempts for several months (not to start positive reward system)
Which fluids should be given as a bolus to a 9 mo in hypernatremic dehydration?
Bolus ALAWYS isotonic (NS or LR) = 0.9% saline
- wouldn’t give .45% saline (despite hypernatremia) b/c dont want to quickly push water into cells too quickly
- hypernatremia always has to be corrected very slowly/gradually
Describe the features of syndrome caused by TORCH infections
TORCH infection => syndrome characterized by
- microcephaly
- hepatosplenomegaly
- deafness
- chorioretinitis
- thrombocytopenia
Which cell types are
a) CD 19 (+
(b) CD 3 (+)
B cells are CD 19 (+)
T cells are Cd3 (+)
Distinguish presentation of osteomyelitis and avascular necrosis in SCD
Osteomyelitis- presents acutely and w/ fever
Avascular necrosis (osteonecrosis) presents gradually and pts are afebrile -most commonly presents as gradual hip pain
Symptoms/presentation of iron poisoning
Iron corrodes the GI mucosa => abdominal pain, bloody vom/dio, metabolic acidosis
In what conditions will female babies be noticed at birth, but male babies go unnoticed until 2-4 weeks of age
CAH = congenital adrenal hyperplasia
- females have ambiguous genitalia at birth => noticed earlier
- males noticed at 2-4 weeks when they present w/ salt wasting features: hyponatremia, hypokalemia, severe dehydration
Opalescent teeth + blue sclera
Opalescent teeth (variety of colors) + blue sclera = Osteogenesis imperfecta
Torticollis vs. Nucchal rigidity
(a) Signs/symptoms
(b) Workup
Torticollis
(a) resists passive flexion and rotation to one side, keeps head rotated to the side
- most common cause- URI, minor trama, cervical lymphadenitis
(b) Xray of the neck- rule out cervical spine fracture or dislocation
Nucchal rigidity
(a) Inability to bend neck forward due to rigidity of neck muscles
- not necessarily pain when moving forward but actually loss in FROM (full range of motion)
(b) LP for meningitis workup
Vaccination schedule
(a) H. influenza B
(b) Pneumococcus
(c) IPV
(d) MMR
(e) HepB
(f) Varicella
Vaccination schedule
(a) HIB- 4 doses by 18 mo
(b) PCV (pneumococcal virus)- 4 doses by 15 mo
(c) IPV- 3 doses by 18 mo + booster at 4-6 yoa
(d) MMR- first at 12-15, booster at 4-6
(e) Hep B- 3 doses before 18 mo (first at birth)
(f) Varicella = same as MMR: first at 12-15, booster at 4-6
Think of what kind of jaundice at the following times
(a) First 24 hrs of life
(b) 2-3 dol
(c) 5-7 dol
(d) few weeks of life
Jaundice
(a) First 24 hrs of life = erythroblastosis fetalis
(b) 2-3 days of life, gone by 5th day = physiologic jaundice
(c) 5-7 dol- suggests neonatal sepsis
(d) first few weeks of life- suggests breast milk jaundice
Describe the pathophysiology/signs of nephrotic syndrome
Increase in glomerular membrane permeability causes protein excretion in urine (proteinuria). Loss of protein in urine => low protein in blood (hypoalbuminemia). Low protein in blood allows water to be drawn into soft tissues (edema)
3 features of nephrotic syndrome
- large (4+) proteinuria
- hypoalbuminemia
- edema
Distinguish the type of tachycardia that comes from hyperthyroidism vs. Wolf Parkinson White syndrome
Tachycardia
(a) Hyperthyroidism => sinus tachy (SA node)
(b) WPW = accessory pathway btwn atria and ventricle that causes early ventricular contraction = supraventricular tachy
What is erythroblastosis fetalis?
Erythroblastosis fetalis = hemolytic disease of the newborn
-maternal IgG cross the placenta and attack fetal RBC
Aplastic crisis
(a) Most common etiology
(b) Lab findings
(c) Tx
Aplastic crisis = transient arrest of erythropoiesis, most commonly associated w/ infection
(a) Parvovirus B19
(b) Lab findings: sudden drop in Hgb, absence of reticulotyes (b/c so aacute)
(c) Tx: blood transfusion
16 yo w/ h/o UC w/ diarrhea, rash, and beefy red tongue- most likely to be deficiency in which vitamin
Niacin (vitamin B3) => pellagra = diarrhea, dermatitis, glossitis, dementia
-mental status changes: poor concentration, irritability
WAGR syndrome
Wilms’ tumor
Aniridia = absence of the iris
Genitourinary anomaly
Retardation
Symptoms of thiamine deficiency
Thiamine (Vitamin B1) deficiency = beriberi or Wernicke-Korsakoff
-neurologic + psychiatric symptoms
Symptoms of riboflavin deficiency
Riboflavin (vit B2) deficiency = cheilosis (fissures/cracks on lips), glossitis, seborrheic dermatitis, pharyngitis, edema
Quick distinguishing feature btwn undetected hearing impairment and autism
Hearing impairment doesn’t come w/ the repetitive behaviors seen in autism
-although both can have language/communication difficulties and decreased social skills
6 mo old w/ FTT and regurgitation after feedings
- during vomiting child tilts head left and arches back
- afebrile, abdomen non-tender to palpation
(a) Dx
(b) Management
(a) GERD = regurgitation after feeding + FTT
- position (left tilt and arched back) used to protect airway and react to the pain of the acid reflux
(b) Gold standard diagnostic tool of GERD = 24 hr esophageal pH monitoring
Indication for maternal Zidovudine tx
HIV- prevent transmission to fetus
Tx besides ethosuxamide for absence seizures
Valproate/valproic acid
2 yo w/ intractable diarrhea, FTT
- oral thrush
- lymphadenopathy
- HSN
Congenital HIV
2 week old w/ blood-stained odorless vaginal discharge
Next step in management?
Reassurance- F less than 3 mo can develop vaginal spotting/bleeding due to maternal estrogens that crossed the placenta
Risk factors for IVH in a newborn
Intraventricular (ex: germinal matrix) hemorrhage most commonly seen in premature and LBW infants
Workup for pubertal gynecomastia in adolescent boy
Reassurance- it is a benign finding present in about 50% of adolescent boys
- usually asymmetric, frequently tender
- prepubertal male testes normally 2 cm in length and 3 mL in volume
From what cells of origin do Wilm’s tumors come from?
Wilm’s tumor (unilateral flank mass) comes from the metanephros
Acute onset of HA + hemiparesis and dilated left pupil after an episode of acute otitis media or sinusitis
(a) Fundoscopic exam?
(b) Febrile?
Brain abscess
-acute onset of headache and focal neurologic findings (hemiparesis and dilated left pupil)
(a) Fundoscopic exam normal- papilledema is a later sign
(b) Nope
Presentation of pheochromocytoma
Pheochromocytoma = hormone-secreting tumor of the adrenals
Presents w/ flank pain, elevated BP/HR, palpitations, anxiety, weight loss
Meniere’s disease
Inner ear d/o (accumulation of fluid in inner ear) w/ vertigo
14 yo F w/ Turner’s presenting w/ leg muscle fatigability
- HTN
- mild, continuous murmur all over the chest
Most probably finding on CXR?
Rib notching = specific for coarctation of the aorta (7% Turner’s pts), due to dilation of the collateral chest wall vessels
- Mild continuous murmur all over the chest due to flow of collaterals
- HTN in arms/upperbody due to coarctation
Aplastic crisis vs. hemolytic crisis
Retic count
Hemolysis would have high retic count
Aplastic crisis is sudden and retics don’t have time to compensate => high Hgb w/ zero retics
Technetium-99m pertechnetate scan
Diagnostic test for Meckel’s diverticulum
How to kids w/ CAH present?
Congenital adrenal hyperplasia = deficiency in an enzyme needed for steroid synthesis (most common is 21-hydroxylase)
- hirsutism or virilism (low voice or other male secondary sex characteristics)
- decreased mineralocorticoid production => hyponatremia and hyperkalemia
- ambiguous genitalia, salt wasting, and dehydration
11 mo old w/ rachitic rosary, large anterior fontanelle, thickening of lower end of long bones (wrists)
Vitamin D deficiency Rickets
Bilious emesis 4 hrs after birth
- no BM
- afebrile
- distended abdomen
- decreased bowel sounds
Intestinal atresia
What is Wolff-Parkinson White syndrome?
(a) 3 characteristic EKG findings
Accessory pathway btwn the atrium and ventricle which leads to ventricular preexcitation (part of the ventrile depolarizes early) since the accessory pathway conducts faster than thru the AV node
(a) EKG findings: slurred delta wave, shortened PR interval, widened QRS
Early ventricular depolarization = the delta wave which both broadens the ventricular complex (QRS) and shortens the PR interval
Most common causes of the following in children
(a) Communicating hydrocephalus
(b) Obstructive hydrocephalus
(a) Communicating hydrocephalus- most commonly caused by subarachnoid hemorrhage, which can be due to intraventricular hemorrhage
(b) Obstructive hydrocephalus- Chiari malformation, Dandy Walker anomaly
Lab value to distinguish iron deficiency anemia and thalassemia
RDW
- high RDW in iron deficiency anemia (and low retic count)
- normal RDW in thalassemia (w/ high retic count)
Differentiate presentation of rubella virus and herpes virus 6
Rubella- presents w/ lymphadenopathy and rash that starts on face
Herpes virus 6- no lymphadenopathy, rash starts on the trunk, pt is no longer febrile when the rash appears
Most common bacterial cause of the following in SCD pts
(a) Osteomyelitis
(b) Sepsis
Sickle cell pts
(a) Osteomyelitis caused by salmonella
(b) Sepsis caused by capsulated organisms: strep pneumo, nontypable H. influenza
7 yo w/ multiple prior fractures
- hypotonia
- blue sclera
Osteogenesis Imperfecta = congenital bone d/o
- brittle bones that are prone to fracture
- blue sclerae, hearing loss, seizures
- opalescent teeth
Next step for pt who swallowed a battery and has it stuck in his/her
(a) Esophagus
(b) Stomach
(a) When swallowing a foreign object- need to prevent esophageal ulceration of mucosal damage => if in the esophagus immediately remove endoscopically
(b) If distal to the esophagus, you can watch and wait- 90% of cases will pass into stool w/o intervention
Workup: previously healthy 15 mo old after LOC of crying when frsutrated or upset
- no cyanosis or incontinence
- no post-LOC state
- normal physical exam
Reassurance to parents
-breath holding spells: apnea and LOC associated w/ anger/frustration
Minimal change disease
(a) most common cause in children
(b) Tx
Minimal change disease- most common cause of nephrotic syndrome (proteinuria) in children
(a) Idiopathic injury to glomerular basement membrane
(b) Steroids
Age at which you come when called
12 mo
What is an appropriate screening test for 4 yo M
Vision test
Describe how the following may present at birth
(a) Erb-Duchenne palsy
(b) Klumpke paralysis
Presentation at birth
(a) Erb-Duchenne: abscent Moro yet intact grasp reflex on affected side
(b) Klumpke: unilateral hand paralysis w/ ipsilateral Horners (ptosis and miosis)
Why is it important to treat VUR?
Vesicoureteral reflux can cause renal scaring => hypertension
Expected finding in 10 yo SCD pt’s peripheral smar
Howell-Jolly bodies indicating functional asplenia
-HJB are remnants of RBCs that would normally be removed by a functional spleen
Resolution of post-strep GN timeline
Order: proteinuria, hematuria, kidney function, complement levels
Kidney function resolves in 1-2 weeks as inflammation decreases as infection is cleared
- then complement levels normalize in 8-12 weeks
- hematuria can last for 6 months
- proteinuria can really persist for a few years
Mechanism of joint injury seen in hemophilia
Hemosiderin (iron) deposition and fibrosis (cytokine release)
6 mo old w/ sudden jerky mov’ts of neck, arms, and legs in clustered episodes
- small 1-2 cm oval irregular hypopigmented macules
- cortical tubers in cerebral cortex on head CT
Tuberous sclerosis = genetic d/o
- often presents w/ infantile spasms
- ash leaf macules
- unique EEG findings: hypsarrhythmia
- cortical tubers = classic finding on EEG
Macrosomia, macroglossia, visceromegaly, omphalocele, hypoglycemia, hyperinsulinemia
Beckwith-Wiedemann syndrome- exactly cause unknown
Which types of infections are pts w/ sickle cell disease at an increased risk for?
Pts w/ SCD become functionally hyposplenic due to splenic autoinfarction => susceptible to infxn w/ encapsulated organisms such as S. pneumoniae, H. influenzae, N. menigitides
What other findings would you expect in a kid w/ blood in the subarachnoid space?
Most common cause of subarachnoid hemorrhage in children = AVM (arteriovenous malformation) w/ rupture into the subarachnoid space
AVM’s local effects = seizures, migraine-like HA
=> expect a history of seizures or migraine-like HA in kid w/ SAH
Differentiate the jaundice seen in galactosemia vs. breastfeeding jaundice
Galactosemia = conjungated hyperbili
Breast feeding jaundice = unconjungated hyperbili
HA worse in morning, vom, visual disturbance, unbalanced gait, trunk dystaxia, horizontal nystagmus
Medulloblastoma, posterior vermis syndrome
2 mechanisms by which breastfeeding jaundice causes hyperbilirubinemia
Usually seen in exclusively breastfed infants who aren’t getting enough milk
- inadequate enteral intake prolongs intestinal transit time => increased enterohepatic circulation => increased bile reabsorption
- also relative dehydration
=> jaundice
Pyloric stenosis and hypokalemia
Next step in management?
1st- give hydration and K+ replacement b/c must ensure surgical stabilization
2nd- then once electrolytes are stable, do the surgery
Cherry red macula
(a) Disease
(b) Cause
Cherry red macula- buzzword for Niemann-Pick disease
(b) Caused by sphingolipidosis due to deficiency in sphingomyelinase
2 yo M who hasn’t started walking yet
- prolonged labor
- 3 and 5 APGAR scores at 1 and 5 minutes
- learning disabilities, hyperactive DTRs
Cerebral palsy
- nonprogressive
- most likely cause is cerebral anoxia
What mom/baby blood types is the worst set up for ABO incompatibility
ABO incompatibility (causing jaundice) most commonly seen in mom w/ BT O and baby w/ A, B, or AB
-presents w/in first 24 hrs
Tx for hemophilia
(a) Option for mild hemophilia
Tx for hemophilia = factor VIII replacement (contains vWF)
(a) Mild hemophilia can be treated w/ desmopressin (DDAVP) which causes factor VIII release from endothelial cells
Use of oral tetracycline for conjuncitivitis
Depends on age!!!
Tetracycline is contraindicated in kids under 8 yoa b/c of bone and teeth effects (enamel hypoplasia)
Bileous vomiting + abdominal distention
Xray: Triple bubble w/ gasless lower abdomen
Jejunal atresia
-double bubble = duodenal atresia
Signs of heroin/methadone exposure in neonate
IUGR, macrocephaly, SIDS, neonatal abstinence syndrome
-opiates not associated w/ dysmorphic features or congenital anomalies
Presentation of acute chest syndrome
Acute chest syndrome- not uncommon in SCD pts
-chest pain, fever, new infiltrate on CXR
16 yo M w/ LROM of left knee
- history of multiple episodes of l. knee and r. ankle swelling
- early bruising since childhood
- same thing in his uncle
Hemophilia
Bleeding into joint = hemarthrosis
-recurrent hemarthoses may lead to joint injury called hemophilic arthropathy = iron deposition and fibrosis of the joint
Marfans
(a) 3 body systems affected
(b) Gene mutated
Marfans = due to mutation in fibrillin 1 gene
Effects 3 systems: MSK, eyes, heart
3 absolute contraindications to breast feeding
Absolute contraindications for breast feeding
- maternal HIV
- maternal HSV active on breast
- maternal active tuberculosis
Not absolute contraindications: alcohol, tobacco use, hep C, mastitis
-substance abuse: encouraged to stop using drugs but not to stop breast feeding
15 yo F presents w/ amenorrhea and tanner 2 breast development w/ scant pubic hair
-decreased femoral pulses
Karyotype for Turner’s (XO)
-decreased fem pulses indicate aortic coarctation (seen in about 10% of Turner’s pts)
Name some factors that ironically decrease risk of RDS
- maternal hypertension
- chronic intrauterine stress from prolonged rupture of membranes
- IUGR = intrauterine growth retardation
Proposed mechanism: intrauterine stress stimulates early fetal lung maturity
2 GI findings associated w/ Down’s syndrome
- Duodenal Atresia
2. Hirschsprung = neural crest cells don’t migrate => part of colon has no enteric nervous system
Pneumonic for DiGeorge syndrome- what should be monitored during surgery?
DiGeorge = microdeletion of chr22 = Catch 22
“ca” for calcium levels
-monitor during surgery due to hypoparathyroidism
“t” for thymic aplasia
“h” for heart/cardiac abnormalities
15 yo w/ gait and speech difficulty x6 mo
-scoliosis, feet deformity, dysarthria, dysmetria, nystagmus, absent DRTs on LEs
(a) Diagnosis
(b) Most common complication
(c) Most common cause of death
(a) Friederich’s ataxia = autosomal recessive, most common type of spinocerebellar ataxia
- presents w/ neurologic symptoms and skeletal abnormalities
(b) 90% of pts deelop cardiomegaly
(c) Most common cause of death = cardiomegaly
1 mo old w/ w/ harsh, loud holosystolic murmur over LLSB
- thrill over precordial region
- no cyanosis or rales
- CXR: normal sized heart w/ increase in pulmonary vascularity
- normal EKG
Next step?
Reassurance- indicative of VSD (most common type of congenital heart disease)
-most small (aka loud harsh murmur) close spontaneously w/o treatment as long as there is no sign of pulmonary vascular disease
Lethal complication of menigococcal meningitis
Waterhouse-Friederichsen syndrome- about 100% mortality = sudden vasomotor collapse and skin rash (petechiae) due to adrenal hemorrhage
Ashkanazi Jewish population
Differentiate disease of deficiency in:
(a) acid beta-glucosidase
(b) hexosaminidase
Ashkanazi Jewish populaiton
(a) Deficiency in acid beta-glucosidase = Gaucher disease of lysosomal storage, appears in adolescents (ex: 15) w/ bone pain, easy bruising, anemia
(b) Deficiency in hexosaminidase = Tay-Sachs lysosomal stroage disease, present early in life w/ neurologic finding and cherry-red retinal finding
12 yo boy presents w/ 2 weeks of edema
-proteinuria 3+
(a) Dx
(b) Tx
Edema and proteinuria
(a) Minimal change disease = most common cause of nephrotic syndrome in children
Drug used to
(a) Keep PDA open
(b) Close a PDA
Drug to keep
(a) PDA open = prostaglandin E1 = vasodilator to prevent PDA closure in infants to increased or maintain pulmonary blood flow and improve oxygenation until definitive surgery can be performed
ex: pulmonary atresia, tricuspid atresia, tetralogy of Fallot
(b) Close a PDA: indomethacin = potent prostaglandin inhibitor
Which animal is the main reservoir for rabies?
Bats
Most common presentation of Tuberous Sclerosis
Tuberous sclerosis = multisystem genetic disease
- often presents w/ infantile spasms
- then also developemental delay, ID, skin findings (ex: ash leaf macules), lung and kidney disease
6 yo w/ abdominal pain, hematuria, macpap rash, knee TPA
(a) Diagnosis
(b) Biopsy finding
(a) HSP = Henoch Schloein Purpura
- purpura
- abdominal pain
- AKI
- arthralgia
(b) Mesangial deposition of IgA
- HSP is a IgA mediated vasculitis
Distinguish the following immunodeficiencies
(a) DiGeorge syndrome
(b) X linked agammaglobulinemia
(c) Wiskott-Aldrich syndrome
(d) Hyper IgM
Immunodeficiencies
(a) DiGeorge: thymic aplasia and T cell deficiency => susceptible to fungal infxns
(b) X linked agammaglobulinemia- no B cells => lacks all immunoglobulins
- lack of humoral response => no anaphylaxis ‘
(c) Wiskott-Aldrich = X linked combined B and C cell disorder
(d) Hyper IgM = elevated IgM and depressed IgG and IgA
Height- compared to birth
(a) First year
(b) when does it double by?
(c) when does it triple by?
Height
(a) Height increases 50% in the first year
(b) Height doubles by 4 yao
(c) Height triples by 13 yoa
Delayed separation of umbilical cord, what to expect next?
Delayed separation of the umbilical cord is associated w/ a congenital leukocyte adhesion defect
- recurrent bacterial and endodontal infections
- normal lymphocyte and gamma globulin level
Dicloxacillin
= Nafcillin = Oxacillin
-great coverage for strep and staph
Duchenne’s muscular dystrophy
(a) Mode of inheritance
(b) characteristic features
(c) diagnostic study
DMD
(a) X-linked recessive
- as opposed to autosomal dom of 2nd most common: myotonic muscular dystrophy
(b) Calf pseudohypertrophy and positive Gower’s sign
(c) Diagnostic study = muscle biopsy
First line abx regimen for CF pt w/ pneumonia
Most likely organism = pseudomonas
IV regimen = Cetazipime (3rd gen that covers pseudomonas) + Gentamicin (aminoglycoside- covers pseudomonas)
-necessary to have double coverage of pseudomonas due to high resistance of it to most abx
4 day old premie w/ increased gastric residues
Increased gastric residues in premie- think NEC (necrotizing enterocolitis)
Painless melena in 2 yo
Painless bloody stool in a 2 yr old = Meckel’s diverticulum
rule of 2s
Neonate w/ blood diarrhea, eosinophils in stool, FHX of atopy
Milk protein intolerance
30 minute old ex-28 weeker w/ central cyanosis
- tachypnea, grunting, retractions, nasal flaring
- CXR: fine reticular granularity of lung parenchyma
(a) Diagnosis
(b) Tx
(a) Hyaline membrane disease
- occurs in 60-80% of infants born less than 28 weeks gestational age
(b) Dx = mechanical ventilation and surfactant administration
Differentiate hyaline membrane disease and persistent pulmonary HTN of the newborn
Both present very similarly- cyanotic newborn w/ tachypnea, grunting, retractions
- HMD more in premies, PPHN in full term
- Different CXR findings: normal in PPHN vs. reticular granulations in HMD
9 yo w/ unsteady gait and lower limb weakness
- wide based gait
- decreased vibratory and position sense in lower extremities
- absent ankle jerks
- high plantar arches
(a) Diagnosis
(b) Mode of inheritance
(a) Freiderich’s ataxia
(b) Autosomal recessive
Friedreich’s ataxia
(a) Physiology of disease
(b) Features
(b) Prognosis
Friedreich’s ataxia
(a) Aut recessive mutation in frataxin => progressive degernation of spinal cord tissue that connects cerebellum to motor neurons
(b) Features
- weakness
- loss of coordination
- pes cavus = high arch foot abnormality
- heart defects such as hypertrophic cardiomyopathy (most common cause of death in these pts)
- scolisosis
- vision/hearing impairment
- diabetes
(c) Prognosis is poor: most are wheelchair bound by 25 and live until 30-35 yoa
Which of the following are contraindications to breast feeding?
(a) Maternal HIV
(b) maternal breast cancer
(c) maternal rubella
(d) hemolytic disease of the newborn
(e) acquired immune deficiency syndrome
Contraindiations: maternal HIV and aids (acquired immune deficiency syndrom), maternal breast cancer
-transmission of HIV by breastfeeding is very well documented
Not contraindications:
- hemolytic disease of the newborn
- maternal rubella
Describe in what way the following impair respiratory fxn in a newborn
(a) Fetal lung fluid
(b) Poor alveolar compliance
(c) Meconium
- key feature
(d) Paralysis of the diaphragm
- finding on CXR
Respiratory fxn impairment in newborn
(a) Fetal lung fluid => TTN (transient tachpnea of the newborn)
(b) Poor alveolar compliance => RDS in premies
(c) Meconium aspiration- often in SGA and post-mature infants, coarse streaking and patchy opacities on CXR, greenish amniotic fluid
(d) Paralysis of the diaphragm
- elevated hemidiaphragm on CXR
Infantile colic
(a) Age of presentation
(b) Most common time for crying
(c) Timeline of resolution
Infantile colic
(a) Usually presents w/in the first 1-3 weeks of life
(b) Often the same time everyday, early evening
(c) Usually spontaneously resolves by 4 mo
Kid who starts developing recurrent sinopulmonary infxns after 6 mo of age
Think B-cell deficiency b/c starts around 6 mo when mother’s antibodies are gone
-lack of IgA predisposes to GIardia
Describe features of congenital chlamydial infection
- purulent conjunctivitis
- pneumonia
- few days to several weeks after birth
What is the most likely cause of congenital hypothyroidism:
(a) in the US
(b) Worldwide
Congenital hypothyroidism
(a) In the US: 85% of cases due to thyroid dysgenesis: asplasia, hypoplasia, or ectopic gland
(b) Worldwide- iodine deficiency endemic goiter
Differentiate acquired aplastic anemia and Fanconi’s anemia
(a) Causes
(b) Age of presentation
(c) Diagnostic feature
Acquired aplastic anemia
(a) Meds, chemo, radiation exposure, usually idiopathic
(b) Can present younger
(c) Diagnostic feature = hypocellular bone marrow biopsy w/ decrease in all 3 line’s stem cells
Fanconi’s anemia
(a) Autosomal recessive
(b) Blood counts start to decreased by 4-12 yoa
(c) Diagnostic feature = congenital abnormalities at birth
- cafe au lait spots
Complication of Fanconi’s anemia
Due to autosomal recessive mutation in DNA repair enzyme => very high risk for AML
Todd’s paralysis
Postictal paralysis (ex: hemiparesis)
ex: kid suddenly looses consciousness and is paralyzed on his right side, spontaneously resolves in 24 hrs
- rapidly improves w/ restoration of motor fxn w/in 24 hrs
