EH - Pediatrics Flashcards
Baby presents with HR = 130, acrocyanotic, moves all extremities, grimaces to stimulation, crying – APGAR score?
Pulse = 2, Appearance = 1, Grimace = 1, Activity = 2, Respiration = 2 … Score = 8
APGAR stands for …
Appearance, Pulse, Grimace, Activity, Respiration
Full Grimace in APGAR score is …
Withdrawing from stimulation
What does APGAR tell you?
1 minute = how baby tolerated labor, 5 minutes = how baby is tolerating stimulation + resuscitation
What does APGAR not tell you?
Not predictive of baby’s outcome (brain damage, mental development); Should not direct treatment
Baby’s R arm appears extended and IR – diagnosis?
Erb’s palsy
Best treatment for Erb’s palsy?
Neurosurgery if doesn’t resolve after 3 months
Best treatment for neonatal clavicle fracture?
No treatment needed – fracture will resolve because bones in children are malleable
Infant presents with abnormally-shaped head; Edema appears to cross suture lines – diagnosis?
Caput
Quality of edema in caput?
Pitting; Crosses suture lines
Infant presents with abnormally-shaped head; Palpation shows fluctuant edema that does not cross suture lines – diagnosis?
Cephale hematoma
Quality of edema in Cephale hematoma ?
Does not cross suture lines
Infant presents with rash that appears blue, slate-gray; Located on lower back, thigh – diagnosis?
Mongolian spots
Composition of Mongolian spots?
Melanocytes
Infant presents with rash that appears pale, pink, vascular; Located on face, nuchal region – diagnosis?
Nevus simplex
Alternate name for nevus simplex?
Salmon patch
Infant presents with rash that appears as firm white papules; Present on Day of Life #1 – diagnosis?
Milia
Composition of Milia?
Filled with keratin
What can milia be confused for?
Neonatal acne
What distinguishes neonatal acne from milia?
Time of onset … Milia = Day of Life #1; Neonatal acne = Weeks of Life #1-2
Infant presents with rash that appears as firm yellow-white pustules/papules with erythematous base; Present on Day of Life #2 – diagnosis?
Erythema toxicum
Composition of Erythema toxicum?
Filled with eosinophils
Infant presents with rash that appears sharply-demarcated, bright red, raised – diagnosis?
Hemangioma
Different in PE findings between hemangioma and nevus simplex?
Hemangioma = palpable; Nevus simplex = non-palpable
Infant presents with rash that is hairless, nodular, orange – diagnosis?
Nevus sebaceous
Prognosis for nevus sebaceous?
Removal due to malignant transformation risk
Alternate name for seborrheic dermatitis that presents on infant’s scalp?
Cradle cap
Best treatment for cradle cap in infants?
Antifungal
Which 2 conditions are always included in neonatal screen?
Galactosemia, PKU
Etiology of PKU?
Deficiency in phenylalanine hydroxylase
Clinical presentation of PKU?
Silvery hair, Musty odor
Etiology of Galactosemia?
Deficiency in G1P-uridyl transferase
Clinical presentation of Galactosemia?
Jaundice, hepatomegaly, cataracts
3 do male presents with jaundice; Labs show T. Bili = 10, D. Bili = 0.3 – diagnosis?
Physiologic jaundice
Physiologic jaundice resolves by Day ___
5
Etiology of physiologic jaundice?
Infant’s liver is not mature enough to conjugate all bilirubin
7 do male presents with jaundice; Labs shows T. Bili = 12, D. Bili = 0.5; PE shows failure to thrive, dry MM – diagnosis?
Breastfeeding jaundice
Distinguishing clinical feature of Breastfeeding jaundice?
Infant appears dehydrated
… No breastfeeding enough
When is jaundice a cause for concern?
Present on Day of Life #1; T. Bili > 12; D. Bili > 2
Next best test for infant who presents on Day of Life #1 with elevated total + indirect bilirubin?
Coomb’s Test
7 do male presents with jaundice; Urine is dark, stools are pale; Labs show T. Bili = 12, D. Bili = 8, elevated LFTs – diagnosis?
Biliary atresia
Biliary atresia represents a ___ bilirubinemia
Direct
Best treatment for biliary atresia?
Surgical emergency
Why is biliary atresia considered a surgical emergency?
Will cause liver failure if left untreated
Infant presents with direct hyperbilirubinemia, NML LFTs – diagnosis?
Sepsis, Hypothyroidism, Cystic Fibrosis
2 hereditary causes of indirect hyperbilirubinemia?
Crigler-Najjar, Gilbert
Etiology of Gilbert Syndrome?
Decreased in glucuronyl transferase
Etiology of Crigler-Najjar?
Total deficiency in glucuronyl transferase
2 hereditary causes of direct hyperbilirubinemia?
Rotor, Dubin-Johnson
Why is indirect hyperbilirubinemia concerning in infants?
Indirect bilirubin can cross the BBB … causing kernicterus
Where does indirect bilirubin preferentially deposit in the brain?
Basal ganglia, CN nuclei
Best treatment for extreme hyperbilirubinemia (20+)?
Plasma exchange
Best treatment for moderate hyperbilirubinemia?
Phototherapy
Role of phototherapy in moderate hyperbilirubinemia?
Isomerizes indirect hyperbilirubinemia … more easily excreted
Best treatment for diaphragmatic hernia causing respiratory distress?
Surgical repair 3-5 dyas after delivery
What other conditions should we look for in an infant with transesophageal fistula?
VACTERL … Vertebral, Cardiac, Limbs, Renal
Additional conditions associated with choanal atresia?
CHARGE … Coloboma, Heart defects, growth Retardation, GU anomalies, Ear anomalies
Infant born at 32 weeks presents with dyspnea, nasal flaring; CXR shows ground glass opacities with air bronchograms and atelectasis – diagnosis?
RDS
Best test for prenatal diagnosis of RDS?
L:S ratio
L:S ratio of ___ is associated with higher likelihood of developing RDS
< 2
Pathophysiology of RDS?
Lack of surfactant
Best treatment for RDS?
Surfactant
Indication for theophylline in NICU?
Difficulty with respiratory drive
Infant born at 38 weeks presents as large for gestational age; Born via C-section to diabetic mother; Patient was dyspneic and grunting after delivery – diagnosis?
TTN
Buzzwords associated with CXR in setting of TTN?
Perihilar streaking; Air-trapping
What accounts for perihilar streaking in setting of TTN?
Retained fluid in fissures
Etiology of TTN?
Retained fluid
Risk factor for TTN?
C-section
Infant born at 41 weeks; Born after rupture of membranes that yielded green-brown fluid – diagnosis?
Meconium aspiration syndrome
Next best step for baby with suspected Meconium aspiration syndrome?
Suction before stimulation
Complications of Meconium aspiration syndrome?
Pneumonia pneumonitis; Pulmonary artery HTN
2 characteristics of gastroschisis?
Lateral to midline; No soft tissue sac
Best test for prenatal diagnosis of gastroschisis?
Elevated maternal AFP
2 characteristics of omphalocele?
Midline; Soft tissue sac
Which additional conditions are associated with omphalocele?
Down Syndrome, Beckwith-Weidman Syndrome
3 aspects of clinical presentation of infants with Beckwith-Weidman Syndrome?
Large baby, Macroglossia, Ear pits
Which additional conditions are associated with umbilical hernia?
Hypothyroidism
Infant who presents with macroglossia + umbilical hernia – diagnosis?
Hypothyroidism
Best treatment for umbilical hernia children?
Monitor for self-resolution by 2-3 yo, then consider surgery
4 wo infant presents with non-bilious vomiting; PE shows palpable olive – diagnosis?
Congenital Pyloric Stenosis
Best treatment for Congenital Pyloric Stenosis?
Myotomy
Metabolic abnormality associated with Congenital Pyloric Stenosis?
Hypochloric, hypokalemic metabolic alkalosis
2 wo infant presents with bilious vomiting; Pregnancy complicated by polyhydramnios – diagnosis?
Duodenal atresia
Classic appearance of Duodenal atresia on abdominal XR?
Double bubble
Condition associated with Duodenal atresia?
Down Syndrome
1 wo infant presents with bilious vomiting, abdominal distention; Draws up legs to chest during PE – diagnosis?
Malrotation
3 do infant has still not passed meconium – which 2 conditions are on differential?
Cystic fibrosis, Hirschsprung disease
5 do male born at 33 weeks develops bloody diarrhea – diagnosis?
Necrotizing enterocolitis
Classic appearance of Necrotizing enterocolitis on abdominal XR?
Pneumatosis intestinalis
Best treatment for Necrotizing enterocolitis?
Bowel rest, IV ABX, Parental nutrition
Risk factor for necrotizing enterocolitis?
Prematurity
2 mo infant presents with red current jelly stool, abdominal pain; PE shows sausage-shaped mass in RUQ – diagnosis?
Intussusception
Diagnostic and therapeutic test for Intussusception?
Barium enema
Next best test for male infant whose testes are not located in scrotum or inguinal canal?
US
Condition associated with cryptorchidism?
Prune Belly Syndrome
When do infants with cryptorchidism typically require surgery?
12 months
Newborn male presents with urethral opening located on ventral surface of penis?
Hypospadias
What is contraindicated in male infants with hypospadias?
Circumcision
Newborn child presents with ambiguous genitalia; 1 month later develops hyponatremia, vomiting, hyperkalemia, acidosis – diagnosis?
21alpha hydroxylase deficiency
Definitive test for 21 hydroxylase deficiency?
17-OH progesterone
Best treatment for 21 hydroxylase deficiency?
Replacement of Aldosterone + Cortisol
Newborn with midline mass; Lack of urination for first several days of life – diagnosis?
Posterior urethral valves
Best treatment for Posterior urethral valves?
Catheterization + Surgical correction
2 infant complications associated with mothers who have pre-existent DM?
Small L colon, caudal regression
Best treatment for neonatal hypoglycemia < 40 mg/dL?
Breastfeed
Best treatment for neonatal hypoglycemia < 20 mg/dL?
IV glucose
Infants of DM mothers have increased risk of … (even if not premature)
RDS
What accounts for increased risk of RDS in infants born to mothers with DM?
Insulin inhibits release of surfactant … (normally stimulated by a surge of cortisol)
Anytime an infant age ___ develops fever, it is cause for concern
< 1 mo
Important test to order for infant > 1 mo who develops a fever?
LP … to rule out meningitis
Most common pathogens responsible for neonatal sepsis?
GBS, E. coli, Listeria
Best empiric treatment for neonatal sepsis?
Ampicillin + Gentamycin
When should empiric treatment for neonatal sepsis be discontinued?
Blood cultures are (-) for 48 hours
TORCH infection that presents as maculopapular rash on palms + soles?
Syphilis
TORCH infection that presents as hydrocephalus, intracranial calcifications, chorioretinitis?
Toxoplasmosis
TORCH infection that presents as deafness, heart defect, cataracts, extramedullary hematopoiesis?
Rubella
TORCH infection that presents as microcephaly, periventricular calcifications, deafness, thrombocytopenia, petechia?
CMV
TORCH infection that presents as limb hypoplasia, cutaneous scars, cataracts, cortical atrophy, chorioretinitis?
Varicella
When should infants receive IgG for varicella … based on maternal infection timing?
5 days before delivery … 2 days after delivery
Infants who present with red + tearing conjunctiva during days of life 1-3 – which type of conjunctivitis?
Chemical … (silver nitrate)
Infants who present with purulent conjunctiva during days of life 3-5 – which type of conjunctivitis?
Gonorrhea
Infants who present with mucoid conjunctiva – which type of conjunctivitis?
Chlamydia
Complication of chlamydia conjunctivitis?
Chlamydia PNA
Typical IQ of patients with Down Syndrome?
Moderate mental retardation
Infant presents with rocker-bottom feet, microcephaly – diagnosis?
Edward Syndrome
Infant presents with holoprosencephaly, cleft lip/palate – diagnosis?
Patau Syndrome
14 yo female presents with lack of secondary sex characteristics, high FSH – diagnosis?
Turner Syndrome
Anomalies associated with Turner Syndrome?
Coarctation of aorta, horseshoe kidney
Best treatment for Turner Syndrome?
Estrogen replacement
16 yo male presents with hypogonadism, gynecomastia, mild mental retardation – diagnosis?
Klinefelter Syndrome
Klinefelter Syndrome is associated with increased risk of …
Gonadal malignancy
Patient presents with bird-like facies, hypomandibulosis, glossoproptosis, cleft palate – diagnosis?
Pierre-Robin sequence
Patient presents with broad + square face, self-mutation – diagnosis?
Smith McGuinness
Most common overall cause of MR?
Fetal ETOH Syndrome
Most common cause of MR in males?
Fragile X
AD condition, associated with advanced paternal age; PE shows deafness, white forelock – diagnosis?
Wardenberg Syndrome
Patient presents with multiple infections; PE shows absent tonsils – diagnosis?
X-linked agammaglobulinemia (Bruton)
Lab values seen in setting of X-linked agammaglobulinemia (Bruton)?
No B cells; Low levels of all Ig
Low levels of all Ig that presents in adolescents and young adults – diagnosis?
Combined Immunodeficiency
Labs seen in setting of Combined Immunodeficiency?
Low levels of all Ig, NML B cells
Combined Immunodeficiency is associated with increased risk of …
Lymphoma
What is the most common B cell deficit?
IgA deficiency
Infant presents with seizures, truncus arteriosus, micrognathia – diagnosis?
DiGeorge Syndrome
Which type of infections are children with DiGeorge Syndrome susceptible to?
Fungal, Viral … things that T cells take care of
Patient presents with absent tonsils, absent thymus; Labs show severe lymphopenia – diagnosis?
SCID … Severe Combined Immunodeficiency
Inheritance pattern of SCID?
X-linked; AR
Best treatment for SCID?
Bone marrow transplant
Child presents with inguinal lymphadenopathy; PE shows multiple MRSA skin abscesses – diagnosis?
Chronic granulomatous disease
Diagnostic test for Chronic granulomatous disease?
Nitrotetrazolium blue
18 mo female presents with recurrent ear infections, eczema, petechiae – diagnosis?
Wiskott-Aldrich Syndrome
Lab results seen in setting of Wiskott-Aldrich Syndrome?
High IgE + IgA; Low IgG + IgM
wAtEr
Which event typically leads to diagnosis of Wiskott-Aldrich Syndrome?
Prolonged bleeding after circumcision … due to severe thrombocytopenia
Why do infants typically lose up to 7% of their birth weight during Week 1 of life?
Excess urination
When should infants regain their birth weight?
2 wo
When should infants double their birth weight?
6 mo
When should infants triple their birth weight?
12 mo
When should infants increase their birth height by 50%?
1 yo
When should infants double their birth height?
4 yo
2 fetal contraindications to breastfeeding?
Galactosemia, PKU
5 maternal contraindications to breastfeeding?
HIV, TB, Chemotherapy, Radioactive iodine, Maternal ETOH use
Is Hepatitis C considered a contraindication to breastfeeding?
No
Dominant protein in breastmilk?
Whey
Dominant fatty acid in breastmilk?
Long-chain FA
Does breastmilk or formula contain more lactose?
Breastmilk
Does breastmilk or formula contain more iron?
Formula contains more Fe … BUT breastmilk has greater bioavailability
14 yo male presents in < 5% for height + weight; Parents are above-average height – diagnosis?
Constitutional growth delay