Peds Flashcards
NF 1 vs NF2
Type 1 (von Recklinghausen): chromosome 17 (17 letters in von Recklinghausen). • Café au lait spots, cutaneous neurofibromas (made up of Schwann cells- neural crest origin), pheochromocytomas, Lisch nodule (pigmented iris hamartomas) • Autosomal dominant with variable expressivity
Type 2: NF2 gene on chromosome 22.
• Bilateral acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas
Labs in iron deficiency anemia
Dec ferritin
Inc transferrin
Inc RDW
What type of sepsis is galactosemia associated with?
E. coli
McCune Albright Syndrome
Characterized by precocious puberty, café au lait spots that are large and have irregular borders, and multiple bone defects (polyostotic fibrous dysplasia)
What is the cause of Fanconi anemia?
Defective DNA repair that results in inc chromosomal breakage
What causes non bullous impetigo and what causes bullous impetigo?
Non bullous: GAS and staph
Bullous: staph
Role of vWF
Anchors platelets to endothelial wall- essential for platelet aggregation
What urine test can be done to diagnose celiac disease
Dec D-xylose in urine (due to dec absorption into the blood from the GI tract)
Triad of Alport syndrome
Classic triad: Can’t see, can’t pee, can’t hear a buzzing bee – eye problems, glomerulonephritis, and deafness
hereditary hyperbilirubinemia
Indirect
Direct
Indirect: Gilbert, Crigler Najjar
Direct: Dubin-Johnson, Rotor syndrome
3 pathognomonic facies of Fetal Alcohol Syndrome
- Small palpebral fissures
- Smooth philtrum
- Thin vermilion border
What causes sickle cell crises and how do you treat them?
Intermittent episodes of pain caused by acute vaso-occlusion in the bones
Treat symptomatic pain: NSAIDs and opioids
Female patient with leg pain has increased pain when you press just below the patella
Patellofemoral pain syndrome
- Seen in young athletes, F»M
- Anterior knee pain associated with activity – exacerbated by going up or down stairs
- Patellofemoral compression test: reproduction of pain when the patella is compressed into the trochlear groove
-Tx
• Activity modification
• NSAIDs
• Stretching/strengthening exercises (emphasis on quadriceps)
Patient has tenderness over the tibial tuberosity
• Osgood-Schlatter disease
o Most common in adolescent male athletes
o Tenderness and swelling over the tibial tuberosity
o Traction apophysitis of the tibial tubercle
o XR will show anterior soft tissue swelling, lifting of the tubercle from the shaft, and irregularity or fragmentation of the tubercle
Limp in a child that resolves after 1 month who had negative hip xrays
Transient tenosynovitis: typically follows a viral infection
Patient with fissures at the corner of his mouth, hyperemic tongue, anemia, and seborrheic dermatitis. what vitamin is deficient?
B2 (riboflavin)
Patient has AOM with concurrent conjunctivitis
this is likely caused by H influenza, which is a B lactamase producer and needs to be treated with Augmentin
What should the approach be to treatment of close contacts of confirmed pertussis?
Treatment with macrolide antibiotics regardless of age, immunization status, or symptoms
Neonate presents with drooling, choking, and vomiting with the first feed
Tracheoesophageal abnormality
Clinical test is failure to pass NG tube into stomach
Pinealoma
causes obstructive non-communicating hydrocephalus from aqueductal stenosis (papilledema, headache, and vomiting) and dorsal midbrain syndrome aka Parinaud syndrome (paralysis of vertical gaze, ptosis, and pupillary abnormalities) due to direct compression of the pretectal region of the midbrain (superior colliculi)
Jaundice in a baby of a diabetic mother, what do you suspect?
Polycythemia (due to inc O2 demand in utero)
Which metabolic disorder is a complete contraindication for breastfeeding?
Classic Galactosemia
Initiated soy formula feeds
Congenital GI issues in Down syndrome
Hirschsprung disease
Annular pancreas
Duodenal atresia
An infant with Down Syndrome has not passed meconium 48 hours after birth, what do you suspect?
Hirschsprung disease
congenital megacolon characterized by lack of ganglion cells in distal colon → due to failure of neural crest migration
What age do you typically see staph scalded skin syndrome?
Infancy, rarely beyond age 5
What is the most common type of ectopic mucosa in Meckel diverticulum?
Pancreatic and gastric
What happens if you give an EBV patient amoxicillin (mistakenly thinking they have strep pharyngitis)?
• They will develop a diffuse maculopapular rash
Pulmonary hypoplasia
Flat facies
Limb deformities
POTTER sequence o Pulmonary hypoplasia (cause of death) o Oligohydramnios (insufficient amniotic fluid = trigger) o Twisted face o Twisted skin o Extremity defects (club feet) o Renal failure in utero o Caused by: ARPKD, renal agenesis, obstructive uropathy
Gold standard for diagnosis of Duchenne muscular dystrophy
Genetic testing: deletion of the dystrophin gene
Hemihyperplesia
Beckwith-Wiedemann
Prematurity
<37 weeks EGA
S/S of myotonic dystrophy
Myotonia Muscle wasting Cataracts Testicular atrophy Frontal balding Arrhythmia
Immunodeficiency with periodontal disease
Leukocyte adhesion deficiency
Immunodeficiency that presents with partial albinism, peripheral neuropathy, pancytopenia and inc risk of pyogenic infections
Chediak Higashi syndrome:
defective lysosomal trafficking regulator gene – microtubule defect: phagosome cannot travel across the neutrophil to merge with the lysosome
Prader Willi Syndrome is caused by…
loss of paternal copy of 15q11-q13
Sandifer syndrome
Seen in GERD
a condition in which infants will arch and become tonic to protect their airway from the refluxing gastric contents
Mechanism of severe combined immunodeficiency
Failure of T cell development, which then causes B cell dysfunction
High risk for infections with viruses, fungi, and opportunistic infections
(PCP pneumonia)
Why do infants receive a shot of vitamin k?
To prevent bleeding – inc production of coagulation factors
Xray findings:
Bacterial
Viral
Atypical pneumonia
Bacterial: lobar consolidation
Viral: diffuse interstitial infiltrates
Atypical pneumonia: diffuse interstitial infiltrates
Age distribution of Legg-Calve- perthes vs SCFE
Legg-Calve: 4-8 years old
SCFE: mean age 12 (associated with obesity)
Bite cells with heinz bodies
G6PD deficiency: increased vulnerability of RBCs to oxidative stress
Infant of a T1 diabetic mother vs a gestational diabetic
o Gestational diabetes → macrosomia
Delivery can be difficult – shoulder dystocia, clavicle fx, brachial plexus injury
o T1DM → small for gestational age (IUGR)
Think of the placenta as an end organ – DM causes damage to the placenta and it becomes insufficient
Classic labs/test in hereditary spherocytosis
Elevated MCHC
Osmotic fragility test
CSF in guillain barre
o CSF is significant for albuminocytologic dissociation (increased protein with normal WBC cell count)
Anemia of prematurity
o Normocytic normochromic RBCs with a low retic count
• Decreased EPO causes decreased reticulocyte production in bone marrow
• Shorter RBC life span in prematurity as well as frequent phlebotomy in the NICU
What type of anemia presents in the first 3 months of life? What type of anemia is this?
Diamond-Blackfan anemia: pure RBC aplasia
Centor criteria, strep pharyngitis
Strep treatment?
- Fever
- No cough
- Tender lymphadenopathy
- Sore throat with tonsillar exudate/petechiae
Treat with PCN (really Amoxicillin)
Which is worse, Gilbert syndrome or Crigler-Najjar syndrome?
Crigler-Najjar (absent UDP-glucuronosyltransferase) and die within a few years
Gilbert has decreased enzyme– patients have symptoms during times of stress, fasting, physical exertion
What would you see on histo of a erythema toxicum lesion?
Eosinophilic infiltrate
What diagnosis should you consider when a child presents with hepatosplenomegaly and cervical lymphadenopathy?
Acute lymphoblastic leukemia
Xray finding in NEC
XR shows air in the bowel wall (double line or train track appearance) leading to the hallmark finding of pneumatosis intestinalis
Tinea capitis treatment
Oral terbinafine or griseofulvin
Desquamating rash differential
Scarlet fever
Kawasaki disease
Scalded skin syndrome
Toxic shock syndrome
Transferrin and ferritin in iron deficiency anemia
Low ferritin
High transferrin
Myotonic muscular dystrophy inheritance
AD inheritance
Trinucleotide repeat: CTG
Anticipation: onset of disease is earlier with each generation
Patient presents for WCC. He is noted to have weight, height, and OFC in the 99th percentile, his right upper and lower extremities are smaller than his left extremities, he has a history of macroglossia and umbilical hernia. what do you suspect and what is a common complication of this? How will you monitor him?
Beckwith-Wiedemann syndrome
An overgrowth disorder characterized by a predisposition to neoplasms (Wilms tumor, hepatoblastoma)
Abdominal US and AFP levels every 3 months from birht to age 4
What do labs look like in Fanconi anemia? What do the patients look like?
Labs: pancytopenia
PE: short stature, inc incidence of tumors/leukemia, café au lait spots and thumb/radial defects, renal abnormalities
What is most commonly associated with erythema multiforme?
HSV
less commonly, M pneuminia, sulfa, PCN, SLE, malignancy
Anemia with low retic count
Anemia of prematurity
PAS positive:
TdT positive:
Peroxidase positive:
PAS positive: ALL
TdT positive: ALL
Peroxidase positive: AML (Auer rods)
What diseases are associated with intussusception?
Rotavirus
HSP
Meckel diverticulum
Do not give rotavirus vaccine to a child with hx of intussusception
Mom brings in 3 year old child after finding an abdominal mass. The child is otherwise asymptomatic. What do you suspect?
Wilms Tumor
Leukocytosis with neutrophilia is seen in which immunodeficiency? Why?
Leukocyte adhesion deficiency
Neutrophils are unable to exit the blood due to defect in integrins
Risk factors for developmental dysplasia of the hips
Breech presentation Female sex Caucasian Family history **Most patients have no risk factors
Most common pathogen causing infection in kids with CF?
Staph aureus
Pseudomonas is the most common cause of pneumonia in adults, and contributes to life threatening decline of pulmonary function
What can hyperbilirubinemia lead to? What are the common initial signs?
Elevated unconjugated bilirubinemia can lead to neurotoxicity (kernicterus) – a neurologic syndrome resulting from unconjugated bilirubin deposition in brain cells, especially in the basal ganglia, hippocampus and cerebellum
S/S: poor feeding, lethargy, loss of Moro reflex
How do you treat staph scalded skin syndrome?
Anti-staph meds
Severe: treat as though they have a second degree burn with fluid management and IV oxacillin
What is thought to cause necrotizing enterocolitis? What can be done in premature infants to help prevent NEC?
Combo of gut immaturity and exposure to bacteria from enteral feeds leading to a cascade of inflammation and damage to the bowel wall
Premature infants should receive breast milk
What is metatarsus adductus and what is the treatment?
Medial deviation of the forefoot with a normal neutral position of the hindfoot
Commonly seen in first born infants due to crowded positioning in the small, primigravid uterus
Usually will spontaneously self-correct
Hyperinsulinemia in infant of a diabetic mother
After delivery and leaving the high sugar in utero environment, the infant’s hyperinsulinemia can lead to severe hypoglycemia → seizures, obtundation and respiratory distress
• If baby is asymptomatic, have mom feed him and then recheck glucose after 30 mins
• If baby is symptomatic, give IV glucose
3 year old presents with arm pain. Holding elbow in flexed position and forearm in pronated position. What do you suspect?
Radial head subluxation (nursemaid’s elbow)
Difference between Fanconi and Diamond-Blackfan
Fanconi: pancytopenia
DM: pure red blood cell aplasia
What is the treatment of intussusception?
Air enema
Diagnosis of von willebrand disease and treatment
Dx with ristocetin aggregation test: Ristocetin activates GP1b receptors on platelets and makes them available for vWF bindings → When the vWF level is decreased, there is poor platelet aggregation in the presence of ristocetin
Tx with desmopressin: inc release of vWF and F8 from endothelial wall
Recurrent sinopulmonary and GI infections (immunodefiency)
X linked agammaglobulinemia
Low B cells and immunoglobulin levels
Maintenance fluids for pediatrics
D5 1/4NS + 20KCL
How do people present with acute leukemia (AML and ALL)?
Increased blast production crowds out normal hematopoiesis in the bone marrow – resulting in an acute presentation with anemia (fatigue), thrombocytopenia (bleeding), or neutropenia (infection)
Diagnosis of leukemia
> 25% lymphoblasts
What labs can be done to help diagnose neuroblastoma?
Typically have increased levels of catecholamines: homovanillic acid and vanillylmandelic acid
Treatment of hemophilia
Desmopressin – inc release of F8 from endothelial cells
Treatment for a cat bite
Augmentin
Treatment of CAP
Outpatient: Amoxicillin or Augmenting
Inpatient: Ampicillin
Atypical: azithromycin
What past medical history is a contraindication to getting the rotavirus vaccine?
Past history of intusussception or uncorrected meckel diverticulum
Heart defect in Edwards syndrome
VSD
3 year old patient presents with petechiae and bruising.Only history is a URI 2 weeks ago. CBC shows thrombocytopenia but is otherwise normal. Diagnosis and treatment?
Immune thrombocytopenic purpura (ITP_• Autoimmune destruction of platelets by circulating antibodies (usually anti GP2b/3a)
Usually self limited but cases with severe bleeding may require IVIG or steroids, in severe cases can perform spelenectomy
Todd Paralysis
A self-limited, focal weakness that occurs after a focal or generalized seizure
o Presents in the postictal period with a partial or complete hemiplegia involving an ipsilateral upper and lower extremity, although one may be more affected than the other
Patient with primary amenorrhea has a normal US, and a high FSH. What is the next step?
Karyotype – likely a peripheral cause of primary amenorrhea, look for possible Turner’s syndrome
Histology of Reye Syndrome
Microvesicular steatosis
How to diagnose intestinal malrotation?
Upper GI series – illustrates abnormal position of the ligament of Treitz and the cecum
Lactic acidosis = bowel ischemia
Patient with delayed puberty and complaints of anosmia… What is the condition and what labs will you see?
Kallmann syndrome
Defective migration of GnRH cells and impaired formation olfactory bulb leads to dec GnRH synthesis (leading to dec LH, FSH, and testosterone)
Gastroschisis vs Omphalocele
Gastroschisis: extrustion of the abdominal contents through abdominal folds
- typically right of umbilical folds
- not covered by peritoneum
Omphalocele: persistence of herniation of the abdominal contents into the umbilical cord
- midline
- covered by peritoneum
Jones criteria for rheumatic fever
- J- migratory polyarthritis
- O-carditis **primary cause of morbidity
- N-subcutaneous nodules
- E- erythema marginatum
- S- Sydenham chorea (non rhythmic movements of the hands, feet, and face – due to antistreptococcal antibodies that cross react with basal ganglia).
What are bugs are patients with Chronic Granulomatous Disease susceptible to? How do you test for this?
Recurrent pulmonary and cutaneous infections with catalase positive organisms
Dihydrorhodamine flow cytometry test will show absence of green fluorescence that is characteristic of normal neutrophils
3 most common causes of bacterial meningitis in neonates:
GBS, E coli, listeria
Common pathogens of AOM
Strep pneumo
H. flu (nontypeable)
Moraxella
WAGR syndrome
Wilms Tumor, Aniridia, Genitourinary anomalies, mental Retardation
Type of immunodeficiency in DiGeorge
Lack of normal thymic development = T cell deficiency
Treatment of acute stroke in sickle cell disease
Transfusion therapy
Triad of Kartagener syndrome
Situs inversus
Chronic sinusitis
Bronchiectasis
Mongolian spot
What can this be confused with?
Dermal melanocytosis
Looks like a bruise, can be confused with abuse –> important to document presence of this in chart to prevent abuse accusation
What are risks in babies who are SGA?
Hypoglycemia
Hypothermia
Polycythemia
Erb palsy
C5/C6 nerve root damage
When should the umbilical cord fall off? What does delayed cord separation suggest?
Within 3-4 weeks
Delayed cord separation suggests neutrophil abnormalities: leukocyte adhesion deficiency
Where can you find a neuroblastoma?
Abdomen, thoracic cavity, head or neck (anywhere along the postganglionic sympathetic nervous system)
Xray findings in Ewing
Ewing: a lytic bone lesion with calcified periosteal elevation (onion skin)
CATCH 22 of DiGeorge syndrome
Maldevelopment of the 3rd and 4th pharyngeal pouches
CATCH 22
o Cardiac (tetralogy of fallot, truncus arteriosus)
o Abnormal facies
o Thymic abnormal development – T cell deficiency
o Cleft palate
o Hypocalcemia (secondary to parathyroid hypoplasia)
o Chromosome 22q11 microdeletion
Clenched hands with overlapping fingers
Edwards Syndrome (Trisomy 18)
Patient with primary amenorrhea has a normal US, and a low FSH. What is the next step?
MRI brain– likely central cause of primary amenorrhea, look for pituitary lesion
Patient with chronic back pain has a palpable vertebral step off is noted on physical exam, what do you suspect?
Spondylolithesis: a developmental disorder characterized y a forward slip of the vertebrae
What causes osteogenesis imperfecta?
Impaired synthesis of type 1 collagen – impaired bone matrix formation
What is an infant of a diabetic mother at risk for after delivery?
- After delivery and the high sugar in utero environment, the infant’s hyperinsulinemia can lead to severe hypoglycemia → seizures, obtundation and respiratory distress
- Birth defects like congenital heart disease and neural tube defects
- Increased fetal O2 requirement → polycythemia
- Hyperinsulinemia has an antagonistic effect on surfactant production – respiratory distress syndrome
How to close PDA? How to keep it open?
Close: indomethacin
Keep open: prostaglandin E1
Clinical features in vitamin D deficiency in peds
craniotabes (softening of the skull, ping pong ball skull), delayed fontanel closure, enlarged skull with frontal bossing, enlarged costochondral joints, and enlarged long bone joints.
Also have leg bowing (Genu varum).
First step in the evaluation of primary amenorrhea?
Pelvic ultrasound
Why are infants of a diabetic mother at risk for respiratory distress syndrome?
Hyperinsulinemia has an antagonistic effect on surfactant production – respiratory distress syndrome
Duchenne vs Becker muscular dystrophy
Duchenne: deletion in dystrophin, appears in young children
Becker: mutation in dystrophin, appears in adolescence or early adulthood
Child with signs of meningitis develops purpura and hypotension… what do you suspect?
N meningitidis causing waterhouse friedrichsen syndrome: acute primary adrenal insufficiency
Treatment for molluscum contagiosum
Will typically resolve over 1-2 years but families typically request treatment with cryotherapy
Treatment of lyme disease by age
<8 yo: oral amoxicillin or cefuroxine
>8 yo: doxycycline
Those with evidence of cardiac or neurological disease should get high dose penicillin G or ceftriaxone
Two most important consequences of sickling in sickle cell anemia
Hemolysis
Vaso-occlusion
Wiskott Aldrich syndrome
Combined B and T cell deficiency due to disruption of the cytoskeleton
WATER Wiskott Aldrich Thrombocytopenia Eczema Recurrent infections
Severe combine immunodeficiency
Failure of T cell development, which then causes B cell dysfunction
High risk for infections with viruses, fungi, and opportunistic infections
Treat with a stem cell transplant
What type of bilirubin can cause neurotoxicity?
Unconjugated bilirubin (indirect): When serum levels of unconjugated bilirubin exceed the binding capacity of albumin, excess free bilirubin can cross the BBB
Posterior cervical lymphadenopathy
EBV
What does rheumatic fever follow?
Strep pharyngitis but not impetigo!
What electrolyte abnormality is associated with pyloric stenosis?
Hypokalemic, hypochloremic metabolic alkalosis
Aplastic crisis in sickle cell anemia: characteristics and most common cause
An acute drop in hemoglobin accompanied by a low retic count without splenomegaly
Often caused by parvo infection
Howell jolly bodies
Sickle cell anemia
Painless rectal bleeding in a pediatric patient
Meckel’s diverticulum
Conjunctivitis in the newborn
Gonorrhea: profuse discharge
Chlamydia: milder, watery
- Early onset = gonorrhea
(tx with IV or IM ceftriaxone) - After several days = chlamydia
(tx with oral erythromycin)
Clinical tetrad of Henoch Schonlein Purpura
- Palpable purpura on legs and buttocks (most common presenting symptom)
- Arthritis/arthralgia (2nd most common)
- Abdominal pain: Colicky pain and GI bleeding
4: Renal disease
- Ranges from microscopic hematuria and proteinuria to ESRD
- IgA nephropathy
Results of congenital diaphragmatic hernia
Results in pulmonary hypoplasia and pulmonary HTN
Polyhydramnios can occur as a result of esophageal compression
Salmon patch aka stork bite aka angel kisses
Nevus simplex
Treatment of tylenol overdose
N-acetylcysteine
Location of bone lesion in Ewing vs Osteosarcoma
Ewing is in the diaphysis (mid shaft)
Osteosarcoma is in the metaphysis (near the growth plate)
What does a normal PaCO2 during an acute asthma exacerbation suggest?
A normal PaCO2 in the face of tachypnea and fatigue is an ominous sign because the PaCO2 should be well below 40 mmHg in the pateint with rapid respiratory rate
Most common cause of infection in kids with sickle cell disease
Osteomyelitis: salmonella
Other: staph aureus
Newborn with cyanosis and hypoxia that is aggravated by feeding and relieved by crying. What should you do to confirm the diagnosis?
Choanal atresia
Congenital nasal malformation caused by a failure of the posterior nasal passage to canalize completely, leaving either a bony or membranous obstruction
o Check by attempting to pass a catheter through the nose to the pharynx
Temperature in a neonate with sepsis
Hyper or hypothermia
AOM treatment by age
<2 years old = treat with antibiotics
>2 years old = observation, or antibiotics
Infant of a diabetic mother: early gestation complications vs late gestation complications
Early: neural tube defects and congenital heart disease (transposition of the great arteries)
Late: macrosomia –> shoulder dystocia, clavicle fx
Polycythemia due to inc fetal O2 requirement
Treatment of rocky mountain spotted fever
Since RMSF is so rapidly progressive, it is essential to start treatment based on clinical suspicion rather than waiting for confirmatory testing to come back
Asymptomatic abdominal mass that does not cross midline found incidentally in a 3 year old child
Wilms tumor
What does opsoclonus-myoclonus raise suspicion for?
Neuroblastoma
Neonate with painless bloody stools +/- eczema
Milk or soy protein induced colitis
o Non-IgE mediated immune response to proteins in formula or breast milk that causes rectal and colonic inflammation
What lab is characteristically elevated in muscular dystophy?
CK
Fixed split S2
ASD
Prader Willi presentation early vs late
Complications
- Early: Hypotonia and failure to thrive
- Late: Compulsive binge eating and obesity
- Short stature
- Hypogonadism
- Intellectual disability
- Dysmorphic facies
- Narrow forehead
- Almond shaped eyes
- Downturned mouth
Complications (related to obesity): Sleep apnea, T2DM, gastric distention
Patient with episodes of gross hematuria after URIs
Alport syndrome: Mutation in type IV collagen → thinning and splitting of GBM
X linked dominant
Transient erythroblastopenia of childhood (TEC)
- An acquired red cell aplasia which occurs in healthy children between 6 months and 4 years old
- Gradual onset of symptoms: pallor, dec activity
- The physical exam is typically unremarkable: mild pallor
- Normocytic normochromic anemia
- Complete spontaneous recovery within 1-2 months
Patient with primary amenorrhea has a normal US, what is the next step in management?
FSH level
High FSH indicates a peripheral cause
Low FSH indicates a central cause
What type of deficiency causes bleeding in patients with CF?
Vitamin K deficiency due to fat malabsorption
Dec factors 2, 7, 9, 10
Bilateral hemianopia
Craniopharyngioma
Treatment of croup vs treatment of bronchiolitis
Croup: Racemic epi and steroids
Bronchiolitis: supportive care
Hemophilia A
Factor 8 (A-ight)
Treat with desmopressin (DDAVP) to inc release of F8 from endothelial cells
Klumpke paralysis
C7/C8/T1 nerve root damage
What bone lesion is seen with retinoblastomas?
Osteosarcoma (RB mutations)
