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Pediatrics > BRS #2 > Flashcards

BRS #2 Flashcards

1
Q

apgar score variables (5)- 0, 1, 2

A

HR: absent, < 100, > 100
respirations: absent, slow/irregular, good/crying
muscle tone: limp, some flexion, active motion
reflex: no response, grimace, cough/sneeze/cry
color: blue/pale, body pink/blue extremities, completely pink

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2
Q

assess apgar score at _____ and _____ minutes

if low, resuscitate and continue assessing every 5 minutes until score of 7 or more is reach

A

1 and 5 minutes

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3
Q

vernix caseosa

A

thick white creamy material found in term infants

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4
Q

acrocyanosis

A

cyanosis of hands and feet- common in first 48-72 hours and in some infants the first month of life

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5
Q

cutis marmorata

A

mottling of the skin with venous prominence

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6
Q

jaundice is ALWAYS abnormal if detected within the first 24 hours of birth (T/F)

A

T

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7
Q

milia

A

very small cysts formed around pilosebaceous follicles
appear as tiny whitish papules that are seen on nose, cheeks, forehead, and chin
-disappear within a few weeks
-no tx

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8
Q

mongolian spots

A

dark blue hyper pigmented macules over lumbosacral area

-no pathologic significance

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9
Q

pustular melanosis

A

benign transient rash

small dry superficial vesicles over a dark macular base

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10
Q

erythema toxic neonatorum

A

benign rash seen in first 72 hours
erythematous macules, papules, and pustules
flea bites on funk and extremities but not on palms and soles
eosinophils

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11
Q

nevus simplex (salmon patch)

A

most common vascular lesion of infantry

“stork bite”

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12
Q

nevus flammeus (port wine stain)

A

congenital vascular malformation
-if in V1 distribution, could be assoc with intracranial or spinal vascular malformations seizures, intracranial calcifications (Sturge Weber)

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13
Q

strawberry hemangioma

A

benign proliferative vascular tumor

increase in size after birth and resolve within 18-24 months

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14
Q

neonatal acne

A

not present at birth, appears after 1-2 weeks, no tx needed

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15
Q

microcaphly is head circumference below _____ percentile

A

10th

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16
Q

diffuse swelling of soft tissues of scalp that crosses cranial sutures and the midline

A

caput succedaneum

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17
Q

subperiosteal hemorrhages confined and limited by cranial sutures- usually parietal or occipital bones

A

cephalohematomas

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18
Q

soft areas of skull with a ping pong ball feel

A

craniotabes

-no intervention needed

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19
Q

4 causes of abnormal red reflex in neonate

A

cataracts
glaucoma
retinoblastoma
severe chorioretinitis

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20
Q

in neonates, look for this nose abnormality

A

choanal atresia

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21
Q

micrognathia
cleft palate
glossoptosis
obstruction of upper airway

A

pierre robin syndrome

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22
Q

macroglossia, hemi-hypertrophy, visceromegaly

A

beckwith-wiedemann syndrome

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23
Q

macroglossia can also be assoc with ___ and ______

A

hypothyroidism

mucopolysaccharidosis

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24
Q

epstein pearls

A

small white epidermoid mucoid cysts found on hard palate that will disappear within a few weeks

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25
Q

lateral neck masses

A

branchial cleft cycsts

cystic hygromas

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26
Q

midline neck mass

A

thyroglossal duct cyst

goiter

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27
Q

2 causes of neonatal torticollis

A

being in fixed position in utero

postnatal hematoma from birth injury

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28
Q

edema and webbing of neck suggest ______

A

turner syndrome

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29
Q

chest asymmetry due to absence of formation of ribs or a genesis of pec muscle

A

poland syndrome

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30
Q

prominent vs. depressed sternum

A

pectus carinatum vs. excavatum

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31
Q

tachypnea in a neonate is RR > _____

A

60

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32
Q

preterm infants can breathe irregularly, known as _______

A

periodic breathing

  • short apenic bursts that last less than 5-10 sec
  • no clinical significance
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33
Q

normal HR in neonate

A

95-180

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34
Q

diminished femoral pulses

increased femoral pulses

A

diminished- coarctation of aorta

increased- PDA

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35
Q

check the umbilical cord for ___________

A

2 arteries and 1 vein

-abnormalities may indicate congenital renal anomalies

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36
Q

diastasis recti

A

separation of left and right side of rectus abdominis

-don’t worry about it, it’ll grow fine

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37
Q

how to manage umbilical hernias

A

most close spontaneously

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38
Q

pressing on the bladder makes urine come out of the umbilicus

A

persistent urachus

-fistula between bladder and umbilicus

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39
Q

meconium plug

A

obstruction of left colon and rectum

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40
Q

meconium ileus

what can it indicate?

A

occlusion of distal ileum

it may indicate cystic fibrosis

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41
Q

most normal meconium is passed in the first ____ hours

A

24 hours

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42
Q

MC abdominal mass in a newborn

A

hydronephrosis

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43
Q

hypertrophied clitoris may be due to _____ excess associated with _________

A

androgen excess

virilizing adrenal hyperplasia

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44
Q

hydrometrocolpos

A

imperforate hymen with retention of vaginal secretions

-small cyst between labia at birth or lower abdominal mass later on

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45
Q

hypospadias

does it indicate something else?

A

urethral meatus is on the ventral surface of the penis

-not assoc with increased incidence of associated urinary malformations

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46
Q

epispadias

A

urethral meatus on the dorsal surface of penis

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47
Q

what is epispadias often assoc with?

A

bladder extrophy (bladder protrusion from the abdominal wall)

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48
Q

prognosis of cryptorchidism

A

most descend by age 12 months

if not, higher risk for malignancy

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49
Q

hypoplasia or absence of the radius may be assoc with these 3 things

A
  1. TAR syndrome (thrombocytopenia absent radii)
  2. Fanconi anemia
  3. Holt-Oram syndrome
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50
Q

edema of the feet with hypo plastic nails indicate ______ and ______

A

Turner

Noonan

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51
Q

rocker bottom feet

A

trisomy 18

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52
Q

hernia protrusion of cord and its meninges

A

myelomeningocele

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53
Q

definition of preterm

A

less than 37 completed weeks

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54
Q

definition of post term

A

more than 42 weeks

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55
Q

small for gestational age

A

infants born weighing below 5th percentile for corresponding gestational age due to intrauterine growth retardation

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56
Q

large for gestational age

A

infants born weighing over 90th percentile for their gestational age at birth
*different from high birth weight which is > 4000grams

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57
Q

causes of LGA (large for gestational age)

A

maternal diabetes
beckwith-wiedemann syndrome
prader-willi syndrome
nesidioblastosis (diffuse prolix of pancreatic islet cells)

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58
Q

LGA infants are at high risk for _____ and ______

A

hypoglycemia and polycythemia

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59
Q

how many types of IUGR?

A

3

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60
Q

type I IUGR

A

early interference with fetal growth from conception to 24 weeks

  • chromosomal anomalies
  • TORCH infections
  • maternal drugs (alcohol, heroin)
  • maternal chronic illness (HTN, severe DM)
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61
Q

type II IUGR

A

intrauterine malnutrition from 24-32 weeks

  • inadequate intrauterine space (multiple pregnancies, uterine tumors)
  • placental insufficiency from maternal vascular dz (renal failure, chronic essential HTN, collagen vascular dz, pregnancy-induced HTN)
  • small placenta with abnormal cellularity
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62
Q

type III IUGR

A

late intrauterine malnutrition after 32 weeks

  • placental infarct or fibrosis
  • maternal malnutrition
  • pregnancy induced HTN
  • maternal hypoxemia (lung dz, smoking)
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63
Q

cyanosis can be normal in neonates (T/F)

A

F

cyanosis is always an emergency in neonates!!!!

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64
Q

5 Ts of cyanotic congenital heart disease

A 
tetralogy of fallot
TGA
truncus arteriosus
tricuspid atresia
total anomalous pulmonary venous connection
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65
Q

100% oxygen test in neonates with heart disease

A

-if disease has reduced pulmonary blood flow (ex. TOF) –> then oxygen increases PaO2 slightly ( then oxygen increases PaO2 by more than 15-20mmHg but will usually not go above 150mmHg

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66
Q

100% oxygen test in neonates with lung disease

A

PaO2 increases considerably, often above 150mmHg
-exception: severe lung disease or persistent pulmonary HTN may have large right to left shunts through foramen oval or ductus arteriosus… these kids might not increased by more than 10-15mmHg

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67
Q

respiratory distress syndrome (RDS) is caused by lack of ______

A

surfactant

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68
Q

sufficient quantity of surfactant is produced only after ______ gestation

A

30-32 weeks

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69
Q

how to assess fetal lung maturity

A

amniocentesis

if mature, L:S ratio will be greater than 2:1 and phosphatidylglycerol will be present

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70
Q

RDS is the MCC respiratory distress in preterm infants (T/F)

A

T

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71
Q

highest demographic risk for RDS

A

white males

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72
Q

how to dx RDS

A

CXR: diffuse atelectasis with increased density in both lungs and fine, granular, ground-glass appearance, and air bronchograms

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73
Q

how to tx RDS

A

supplemental O2
CPAP +/- ventilation
exogenous surfactant

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74
Q

acute complications of RDS

A

air leaks
intraventricular hemorrhage
sepsis
right to left shunt across PDA

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75
Q

pathologic changes in immature lung affecting both parenchyma and airways… altering normal lung growth

A

bronchopulmonary dysplasia

  • ventilation during first 2 weeks of life
  • clinical signs of respiratory compromise beyond 28 days
  • need for supplemental O2 beyond 28 days
  • characteristic CXR
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76
Q

any condition that causes low blood flow to the lungs (except congenital heart diseases)
-increased right to left shunting through foramen ovale or PDA

A

persistent pulmonary HTN of the newborn

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77
Q

two MCC of persistent pulmonary HTN of newborn

A

perinatal asphyxia

meconium aspiration syndrome

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78
Q

how to work up PPHN (persistent pulmonary HTN of newborn)

A

CXR is variable

do an echo to r/o heart issues and to assess shunting

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79
Q

how to manage PPHN

A

oxygen
+/- mechanical ventilation
+/- ECMO
inhaled nitric oxide may be a good pulmonary vasodilator

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80
Q

______ is often passed as a consequence of distress (ex. hypoxemia) in the fetus at term and becomes more frequent after 42 weeks gestation

A

meconium

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81
Q

how to evaluate for meconium aspiration syndrome (MAS)

A
  • history of seeing meconium at or before delivery
  • CXR: increased lung volume with diffuse patchy areas of atelectasis and parenchymal infiltrates alternating with hyperinflation
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82
Q

how to manage MAS

A
  • prevention is key via suctioning

- O2 +/- mechanical ventilation and ECMO

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83
Q

respiratory pause without airflow lasting more than 15-20 seconds or of any duration if accompanied by bradycardia and cyanosis or oxygen desaturation

A

apnea of prematurity

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84
Q

most common type of apnea of prematurity

A

mixed apnea (central and apnea secondary to airway obstruction)

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85
Q

idiopathic apnea of prematurity is a dx of exclusion and usually resolves by post conceptional age of 38-44 weeks

A

yep

-can tx with respiratory stimulant medications such as caffeine or theophylline

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86
Q

most common type of jaundice in the neonate

A

indirect hyperbilirubinemia that is physiologic

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87
Q

visible juandice in the neonate occurs when bill is > _____

A

5 mg/dL

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88
Q

physiologic jaundice is _____ hyperbili

2 causes of this

A

indirect/unconjugated

causes: increased bilirubin load, delayed activity of hepatic enzyme glucuronyl transferase

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89
Q

max indirect bili level in physiologic jaundice

A

5-16 by day 3-4 in term infants

peak is at 5-7 days in preterm infants

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90
Q

indirect vs. direct hyperbilirubinemia definitions

A

indirect: direct is < 15% of total
direct: direct is > 15% of total** this one is always pathologic in neonates

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91
Q

breastfeeding jaundice occurs _______

pathophys?

A

during first week of life

poor intake –> weight loss and dehydration –> decreased passage of stool –> decreased excretion of bili in the stool

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92
Q

breast milk jaundice occurs ______

pathophys?

A

after first week of life… highest at week 2-3, may persist to week 10
breast milk has lots of beta-glucuronidase and lipase

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93
Q

when does jaundice need to be evaluated

A
  • appears in the first 24 hours
  • bilirubin rises > 5-8 mg/dL in 24 hour period
  • bilirubin rises at a rate of 0.5 mg/dL per hour or higher (suggests hemolysis)
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94
Q

how to evaluate indirect hyperbilirubinemia

A

CBC
retics
smear
sepsis

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95
Q

how to evaluate direct hyperbilirubinemia

A

hepatic US to look for choledochal cyst
serologies for viral hepatitis
radioisotope scans of the hepatobiliary tree
sepsis

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96
Q

two inherited causes of indirect hyperbilirubinemia

A

crigler-najjar syndrome

gilbert’s disease

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97
Q

how to manage physiologic jaundice

A

serial bili assessments
observation
reassurance

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98
Q

how to manage more pathologic jaundice

A
  • phototherapy- makes water-soluble photo isomers of indirect bili that are more readily excreted
  • exchange transfusion esp for rapidly rising bili levels secondary to hemolysis
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99
Q

complications of hyperbili include kernicterus
there is damage in these 3 parts of the brain:
clinical features include:

A
  • basal ganglia, hippocampus, brainstem nuclei

- choreoathetoid cerebral palsy, hearing loss, opisthotonus, seizures, oculomotor paralysis

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100
Q

neonate is jittiriness, hyperreflexia, irritability, tremulousness, feeding intolerance, excessive wakefulness

A

signs of neonate in withdrawal

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101
Q

esophageal atresia is often assoc with ________

A

polyhydramnios

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102
Q

most common type of esophageal atresia

A

esophageal atresia with a distal tracheoesophageal fistula

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103
Q

clinical features of esophageal atresia

how to tx

A

copious oropharyngeal secretions
VACTERL association (congenital heart disease, anorectal, skeletal, or renal malformations)
tx with surgical repair

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104
Q

congenital diaphragmatic hernia most often occurs on the ____ side

A

left

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105
Q

how to dx congenital diaphragmatic hernia

A

fetal ultrasound

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106
Q

clinical features of congenital diaphragmatic hernia

A 
scaphoid abdomen (abdominal contents in the thorax)
respiratory insufficiency from pulmonary hypoplasia 
CXR can have characteristic findings
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107
Q

how to manage congenital diaphragmatic hernia

A

DO NOT bag and mask ventilate
intubate and mechanical ventilation
surgical repair once infant is stable

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108
Q

central abdominal wall defect in newborn

  • true hernia sac (abdominal organs are covered with a peritoneal sac)
  • frequently associated with other congenital anomalies (TOF, ASD, beckwith-wiedemann syndrome, trisomy 13 and 18)
A

omphalocele

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109
Q

right paraumbilical congenital fissure of the anterior abdominal wall

  • no true hernia sac
  • bowel is usually the only viscera that herniates
  • no increased association with other congenital anomalies
A

gastroschisis

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110
Q

MCC obstruction in the neonatal period

A

intestinal atresia

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111
Q

soap bubble appearance

minimal air fluid levels

A

meconium ileus

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112
Q

meconium ileus is a manifestation of ________

A

cystic fibrosis

-abnormal accumulation of intestinal secretions of deficiency of pancreatic enzymes –> more viscous

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113
Q

clinical signs of meconium ileus

A

abdominal distension
lack of meconium passage
vomiting

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114
Q

how to tx meconium ileus

A

enemas to relieve the obstruction

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115
Q

intestinal malrotation may be caused by ______

A

volvulus

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116
Q

lack of caudal migration of ganglion cells from the neural crest

A

hirschsprung disease

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117
Q

most hirschsprung pts are _____ (male/female) and most have family history

A

male

118
Q

how to dx hirschsprung

A

rectal biopsy shows lack of ganglion cells

119
Q

how to tx hirschsprung

A

resection of affected segment or colostomy

120
Q

abdominal distention, air fluid levels, thickened bowel walls, pneumastosis intestinalis (air in the bowel wall), venous portal gas

A

necrotizing enterocolitis (NEC)

121
Q

how to manage NEC both medically and surgically

A

medical: bowel rest, gastric decompression, abx, IV fluids and nutrition
surgical: ex lap for pneumoperitoneum, presence of a fixed loop on serial radiographs, or a positive paracentesis –> resect necrotic bowel

122
Q

hypoglycemia is glucose < _____

A

40

123
Q

conditions that result in insulin excess and therefore hypoglycemia in neonates

A

infants of diabetic mothers

nesidioblastosis (insulin producing tumors or islet cell hyperplasia)

124
Q

how to tx hypoglycemia in neonate

A

increase oral feeding

if needed, IV glucose

125
Q

infants of diabetic mothers (IDMs) are large because of ____ and ______

A

increased body fat

visceromegaly (liver, adrenals, heart)

126
Q

in IDMs, skeletal length is increased in proportion to weight but head and face appear disproportionately small

A

yep

127
Q

IDMs are typically LGA but can be SGA as well

A

yep

due to severe diabetes induced vascular complications

128
Q

IDMs can get this exclusive GI problem

A

small left colon syndrome

-meconium fails to pass through

129
Q

polycythemia is central venous hematocrit > ______

A

65%

130
Q

causes of polycythemia in neonates

A
  • placental insufficiency
  • hypoxemia
  • delayed cord clamping
131
Q

polycythemia can increase risk of NEC

A

yep

132
Q

how to tx polycythemia

A

partial exchange transfusion

-take out blood and replace with normal saline

133
Q

bilirubin encephalopathy is only caused by _____ bilirubin

A

indirect

134
Q

there is no known association between Down syndrome and NEC or duodenal atresia

A

F

  • no assoc between Down syndrome and NEC
  • there is an assoc between Down syndrome and duodenal atresia
135
Q

gene defect is expressed solely based on the sex of the parent passing on the defective gene.. what is this called and what’s an example?

A

gene imprinting

  • 11q region of chromosome 15
  • if it’s from father, it’s prader-willi syndrome
  • if it’s from mother, it’s angel man syndrome
136
Q

intrinsically abnormal process forms abnormal tissue (ex. bladder extrophy)

A

malformation

137
Q

mechanical forces exerted on normal tissue result in abnormal tissue

A

deformation

138
Q

normal tissue becomes abnormal after being subjected to destructive forces

A

disruption

139
Q

elevated AFP can indicate

A 
neural tube defects
multiple gestation pregnancies
underestimated gestational age 
ventral abd wall defects
fetal demise
edema or skin defects
140
Q

low AFP can indicate

A

overestimated gestational age
trisomies 21 and 18
IUGR

141
Q

low AFP, low unconjugated estriol, high beta-HCG

A

Down syndrome

142
Q

low AFP, low unconjugated estriol, low beta-HCG

A

trisomy 18

143
Q

chorionic villus sampling occurs during weeks _____

A

10-13 wks

144
Q

amniocentesis occurs during weeks _______

A

16-18

145
Q

marfan is an autosomal _______ connective tissue disease that mainly involves these 3 organ systems

A

dominant

ocular, cardiovascular, skeletal

146
Q

gene and chromosome in Marfan

A

fibrillin gene on chromosome 15

147
Q 
tall stature with elongated extremities and long fingers
joint laxity
chest wall deformities
scoliosis or kyphosis 
decreased upper-to-tower segment ratio
A

marfan

148
Q

ocular findings in marfan

A

upward lens subluxation and retinal detachment

149
Q

cardiovascular findings in marfan

A

aortic root dilatation, MVP, aortic regurg

150
Q

how to decrease risk of sudden death in marfan

A

beta blockers and avoidance of contact sports b/c sudden death is mostly due to aortic dissection

151
Q

marfan prophylactic stuff

A

endocarditis ppx

regular ophtho exams

152
Q

almond shaped eyes, fishlike mouth, short stature with small hands and feet

A

prader willi

153
Q

growth issues in prader willi

A

FTT due to feeding problems in year 1

obesity later in childhood and adulthood due to hyperphagia

154
Q

neuro and sexual effects of prader willi

A

hypotonia as newborn
mental retardation, learning disabilities, behavioral issues
hypogonadism or cryptorchidism

155
Q

“happy puppet” syndrome
jerky arm movements, ataxia, paroxysms of inappropriate laughter, severe mental retardation with significant speech delay
-small wide head, large mouth, tongue protrusion, blond hair and pale blue deep-set eyes

A

Angelman syndrome

156
Q
  • short stature and shield chest
  • short webbed neck and low hairline, hypertelorism, epicentral skin folds
  • downslanting palpebral fissures, low set ears
A

noonan syndrome- “male version of Turner syndrome” but females can be affected
-cases are usually sporadic

157
Q

what chromosome is noonan syndrome on?

A

chromosome 12

158
Q

cardiac defect with noonan

A

right sided heart lesions like pulmonary valve stenosis

*compare to Turner syndrome which has left sided heart lesions

159
Q

noonan intelligence

A

25% have mental retardation

160
Q

-short palpebral fissures, small chin, ear anomalies
-aortic arch anomalies, VSDs, TOF
-thymus and parathyroid hypoplasia –> defect in cell mediated immunity and severe hypocalcemia –> infections and seizures
what is this and what chromosome?

A

DiGeorge syndrome
deletion at chromosome 22q11
issue with 3rd and 4th pharyngeal pouches

161
Q

-cleft palate, wide prominent nose with squared nasal root, short chin, fish shaped mouth
-VSD, right side aortic arch
-neonatal hypotonia, learning disabilities, perseverative behaviors
what is this and what chromosome

A

velocardiofacial syndrome

deletion of 22q11

162
Q

autosomal production of defective type V collagen

  • hyperextensible joints, fragile vessels, loose skin, tissue paper-thin scars from minimal trauma
  • complications include aortic dissection and GI bleeding
A

Ehlers-Danlos syndrome

163
Q
  • blue sclera
  • yellow or gray-blue teeth
  • fragile bones resulting in frequent fractures
A

osteogenesis imperfecta (OI)

164
Q

complications of osteogenesis imperfecta

A

early conductive hearing loss

skeletal deformities as a result of fractures

165
Q

what is abnormal in osteogensis imperfecta

A

abnormal type I collagen

166
Q

VACTERL

A 
vertebral defects
anal atresia
cardiac anomalies mainly VSD
tracheoesophageal fistula
renal and genital defects
limb defects
167
Q

CHARGE association

A

colobomas (absence or defect of ocular tissue)
heart defects, likely TOF
atresia of the nasal choanae
retardation of growth and cognition
genital anomalies
ear anomalies (cup shaped ears and hearing loss)

168
Q 
"cocktail party personality"
-elfin facies: short palpebral fissures, flat nasal bridge, round cheeks
-MR and loquacious personality
-supravalvular aortic stenosis
-idiopathic hyperCa
-connective tissue abnormalities 
what is this and what chromosome/gene
A

williams syndrome

chromosome 7 deletion including the gene for elastin

169
Q
  • SGA, FTT
  • single eyebrow (synophrys), long curly eyelashes, microcephaly
  • infantile hypertonia
  • MR and behavioral findings (autistic features, no facial expression, self destructive tendencies)
  • small hands and feet
  • cardiac defects
A

cornelia de lange (brachmann de lange) syndrome

inheritance is mostly sporadic

170
Q
  • SGA
  • short stature and skeletal asymmetry with normal head circumference
  • small triangular face
  • cafe au lair spots
  • excessive sweating
A

Russell Silver syndrome

171
Q
  • micrognathia, cleft lip and palate
  • recurrent otitis media and upper airway obstruction perhaps requiring teach
  • feeding can be difficult 2/2 palate problems
A

Pierre Robin syndrome

172
Q

cri du chat syndrome

  • characteristic cat like cry
  • which chromosome?
A

partial deletion of the short arm of chromosome 5

173
Q

most common trisomy syndrome

A

trisomy 21 (Down syndrome)

174
Q
  • brachycephaly, epicanthal skin folds, upslanting palpebral fissures, brush field spots, protruding tongue
  • hypotonia
  • MR
  • clinodactyly, single palmar crease, wide space between first and second toes
  • duodenal atresia, hirschsprung, omphalocele, pyloric stenosis
  • endocardial cushion defects
A

down syndrome

175
Q

complications of down syndrome

A 
antlantoaxial cervical spine instability
leukemia
celiac disease 
early AD
OSA
conductive hearing loss
hypothyroidism
cataracts, glaucoma, refractive errors
176
Q

______ is the second most common trisomy syndrome and is more common in ________ (males/females)

A

trisomy 18

females

177
Q

scissoring of lower extremities
delicate small facial features
clenched hands with overlapping digits
rocker bottom feet

A

trisomy 18

178
Q

most trisomy 18 patients live until their teenage years (T/F)

A

F

most die within first year

179
Q
  • midline defects of face and forebrain
  • holoprosencephaly
  • microphthalmia, rarely a single eye
  • cleft lip and palate
A

trisomy 13

180
Q

prognosis for trisomy 13

A

poor

most die in first month

181
Q
  • short stature
  • webbed neck
  • shield chest
  • swelling of dorsum of hands and feet
  • delayed puberty 2/2 ovarian dysgenesis
A

turner syndrome (XO)

182
Q

consider _______ in any case of delayed puberty

A

turner syndrome

183
Q

common cardiac issues in turner

A

left sided heart lesions, esp coarctation of aorta

-bicuspid aortic valve and hypoplastic left heart as well

184
Q

MR, large ears, large testes, behavioral problems

A

fragile X

185
Q

which repeat is in fragile X

A

CGG repeats

186
Q

most common inherited cause of mental retardation

A

fragile X

187
Q

most common cause of male hypogonadism and infertility

  • tall stature with long extremities
  • hypogonadism and delayed puberty
  • gynecomastia
  • behavioral findings: antisocial, shy, aggressive
A

klinefelters syndrome

XXY

188
Q

skeletal dysplasia

A

short stature caused by bone growth abnormalities

189
Q

rhizomelia

A

proximal long bone abnormalities (ex. humerus and femur)

190
Q

mesomelia

A

medial long bone abnormalities (ex. ulna and tibia)

191
Q

acromelia

A

distal bone abnormalities (ex. small hands and feet)

192
Q

abnormalities of the spine

A

spondylodysplasias

193
Q

rhizomelia disorder… most common skeletal dysplasia

A

achondroplasia

194
Q

achondroplasia risk increases with advancing ______ age

  • it’s caused by mutation in gene for _______
  • inheritance is _______ but most cases are sporadic
A

paternal
FGF3 receptor
autosomal dominant

195
Q

findings in achondroplasia:
craniofacial
skeletal
ear

A
  • megalencephaly (large brain), foramen magnum stenosis –> hydrocephalus, cord compression, OSA –> sudden infant death
  • lumbar kyphosis –> lumbar lordosis, rhizomelic limb shortening, trident shaped hands
  • recurrent otitis media with conductive hearing loss
196
Q 
severe oligohydramnios (decreased amniotic fluid) can cause \_\_\_\_\_\_\_\_\_
describe it
A

potter syndrome

-lung hypoplasia and fetal compression

197
Q

severe oligohydramnios can be caused by _______ or _______

A

chronic amniotic fluid leak

intrauterine renal failure

198
Q

rupture of amniotic sac –> fluid leak –> intrauterine constraint and small strands from the amnion may wrap around the fetus –> _________

A

amniotic band syndrome (amnion rupture sequence)

199
Q

most common congenital anomalies of the CNS

A

neural tube defects

200
Q

teratogen: microcephaly, short palpebral fissures, long smooth philtrum, variable MR

A

alcohol

201
Q

teratogen: SGA, polycythemia

A

cigarettes

202
Q

teratogen: IUGR, microcephaly, GU tract issues

A

cocaine

203
Q

teratogen: increased risk of cervical carcinoma, GU anomalies

A

DES

204
Q

teratogen: CNS malformations, microtia, cardiac defects, thymic hypoplasia

A

isotretinoin

205
Q

teratogen: wide anterior fontanelle, thick hair with low hairline, small nails, cardiac defects

A

phenytoin

206
Q

teratogen: hypothyroidism, goiter

A

PTU

207
Q

teratogen: phocomelia (malformed extremities resulting in flipperlike appendanges)

A

thalidomide

208
Q

teratogen: narrow head, high forehead, mid face hypoplasia, spin bifid a, cardiac defects, convex nails

A

valproic acid

209
Q

teratogen: hypoplastic nose with a deep groove between nasal ale and the nasal tip, stippling of the pipyses, hypo plastic nails

A

warfarin

210
Q

in terms of IEMs, chronic and progressive sxs are typical of __________

A

mitochondrial diseases

211
Q

when you suspect an IEM, always check for ____ first

A

sepsis!

212
Q

initial labs to check when you suspect IEM

A

metabolic acidosis

elevated serum ammonia

213
Q

how to manage IEM

A
  1. source of energy… usually IV glucose
  2. avoid offending substance
  3. correct acidosis (Na bicarb) or hyperammonemia (Na benzoate and Na phenyl acetate increase excretion; oral neosporin and lactulose prevent bacterial production of ammonia in the gut)
214
Q

IEM: mousey/musty smell

A

PKU

215
Q

IEM: sweet maple syrup smell

A

maple syrup urine disease

216
Q

IEM: sweaty feet smell

A

isovaleric or glutaric acidemia

217
Q

IEM: rotten cabbage smell

A

hereditary tyrosinemia

218
Q

hypoglycemia with ketosis is suggestive of ___ and _____

A

organic acidemias and carbohydrate disease

219
Q

serum NH3 > 200 is suggestive of ________

A

urea cycle defects

220
Q

elevated NH3 and metabolic acidosis are suggestive of _______

A

organic acidemias

221
Q

urinary ketones are normal in a neonate (T/F)

A

F

they’re always abnormal

222
Q

in older children, absence of ketones with hypoglycemia is suspicious for ________

A

fatty acid oxidation defect

223
Q

in the urine, nonglucose-reducing substance is suggestive of _______

A

galactosemia

224
Q

if metabolic acidosis is present, get these labs

A

serum lactate and pyruvate

plasma amino acids

225
Q

if increased ammonia is present, get these labs

A

plasma amino acids –> aminoacidemias

urine organic acids –> elevated orotic acid leads to OTC deficiency

226
Q

IEM with marfanoid body habits w/o arachnodactyly

A

homocystinuria

227
Q

homocystinuria is caused by _________ deficiency

it is autosomal ______

A

cystathionine synthase

recessive

228
Q

homocystinuria:
_______ lens subluxation (diff from marfan)
CV issues include ________
in terms of heme stuff, these pts are _______

A

downward
mitral or aortic regurg but no aortic dilatation
hypercoagulable –> stroke, MI, DVT
-these ppl also have scoliosis and developmental delay

229
Q

how to dx homocystinuria

A
  • increased methionine in urine and plasma

- positive urinary cyanide nitroprusside test

230
Q

how to manage homocytinuria

A

methionine restricted diet
ASA
folic acid
bitamin B6

231
Q

this can occur in premature infants who receive high protein diets

A

transient tyrosinemia of the newborn

232
Q

transient tyrosinemia of the newborn

  • clinical features
  • dx
  • management
  • prognosis
A
  • poor feeding or lethargy, can be asymptomatic
  • elevated serum tyrosine and phenylalanine
  • tx by decreasing protein intake during the episode and giving vitamin C
  • prognosis is good… it’s self limited
233
Q

IEM that causes renal stones

which molecules are affected?

A

cystinuria- autosomal recessive

defect in renal reabsorption of cystine, lysine, arginine, ornithine (CLAO)

234
Q

maybe asymptomatic but also maybe intermittent ataxia, photosensitive rash, MR, and emotional lability

A

Hartnup disease- autosomal recessive

defect in transport of neutral amino acids

235
Q

premature infant has respiratory distress, alkalosis, vomiting, lethargy rapidly progressing to coma…what could it be and how do you tx it?

A

transient hyperammonemia of the newborn- this is self limited but you must tx the hyperammonemia to prevent neuro sequelae

236
Q

vomiting, ataxia, and lethargy with the onset of protein ingestion
what is it and how is it inherited?

A

ornithine transcarbamylase deficiency (most common urea cycle defect)
X linked recessive

237
Q

how to dx OTC deficiency

A

elevated urine orotic acid
decreased serum citrulline
increased ornithine
liver bx

238
Q

how to manage OTC deficiency

A

low protein diet
manage the hyperammonemia
-prognosis depends on episodes of hyperammonemia and neurologic sequelae

239
Q

PKU inheritance

A

AR

240
Q 
developmental delay
infantile hypotonia
mousy or musty odor
progressive MR
eczema
light eyes and hair
A

PKU

241
Q

how to dx PKU

A

increased phenylalanine:tyrosine ratio in serum

242
Q

how to manage PKU

A

phenylalanine restricted diet

*if you do this before 1 month, IQ will be near normal

243
Q 
progressive vomiting and poor feeding
lethargy, hypotonia, coma
developmental delay
hypoglycemia and severe acidosis during episodes
urine smells sweet
A

maple syrup urine disease

244
Q

inherence of maple syrup urine disease

A

AR

245
Q

how to dx maple syrup urine disease

A

increased serum and urine branched chain amino acids

246
Q

how to tx maple syrup urine disease

A

dietary protein restriction

*if restrict in first 2 weeks of life, may avert neuro damage

247
Q

episodes of peripheral neuropathy
chronic liver dz
odor of rotten fish or cabbage
renal tubular dysfunction

A

tyrosinemia type I

248
Q

inheritance of tyrosinemia type I

A

AR

249
Q

how to dx tyrosinemia type I

A

succinylacetone in urine

250
Q

how to tx tyrosinemia type I

A

dietary restriction of phenylalanine, tyrosine, NTBC

liver transplant

251
Q

tyrosinemia type I prognosis

A

death by year 1 if disease begins in infancy

increased risk of HCC and cirrhosis

252
Q

newborn with hypoglycemia and hepatomegaly… suspect this

A

galactosemia

AR disorder caused by galactose-1-phosphate uridyltransferase deficiency

253
Q

features of galactosemia

A

after cow’s milk formula or breast milk feed…

  • vomiting, diarrhea, FTT
  • hepatic dysfunction with hepatomegaly
  • cataracts with oil droplet appearance
  • renal tubular acidosis
254
Q

how to dx galactosemia

A

nonglucose-reducing substance in urine via clinitest

confirmation of enzyme deficiency in RBCs

255
Q

management and prognosis of galactosemia

A

galactose-free diet (soy or elemental formula)

  • prognosis is good with normal IQ if detected early
  • ovarian failure in females
  • E coli sepsis in early infancy if not treated
256
Q

hypoglycemia, vomiting, diarrhea, FTT, seizures after fruit/fruit juice

A

herediatry fructose intolerance

–> avoid fructose, sucrose, and sorbitol

257
Q

IEM with organomegaly and metabolic acidosis

A

glycogen storage diseases

258
Q

glucose-6-phosphatase deficiency

-persistent hypoglycemia, hepatomegaly, metabolic acidosis, hypertriglyceridemia, enlarged kidneys

A

glycogen storage disease type 1 (von gierke’s disease)- AR

259
Q

how to tx GSD type 1

A

frequency feeding with complex carbs

260
Q

GSD type 1 pts at high risk for _______

A

HCC

261
Q

alpha-glucosidase deficiency

-flaccid weakness, progressive cardiomegaly, poor feeding, hepatomegaly, and acidosis in first 2 weeks

A

glycogen storage disease type 2 (pomp’s disease)

262
Q

nonketotic hypoglycemia, hyperammonemia, myopathy, cardiomyopathy

A

FAO defects

263
Q

which is the most common FAO defect

A

medium chain acyl coA dehydrogenase deficiency

264
Q

how to manage FAO defects

A

frequent feedings with high carb, low fat diet

can give carnitine supplementation during acute episodes

265
Q

ophthalmoplegia, pigmentary degeneration of the retina, hearing loss, heart block, neurologic degeneration

A

Kearns-Sayre syndrome (mitochondrial disease)

266
Q

mitochondrial encephalopathy, lactic acidosis, strokelike episodes

A

MELAS (mitochondrial disease)

267
Q

how to dx mitochondrial dz

A

tissue biopsy

268
Q

decreasing eye contact, hypotonia, mild motor weakness, increased startle due to hyperacusis

  • macrocephaly
  • cherry red macula
  • severe developmental delay
A

infantile onset Tay Sachs

269
Q

ataxia, dysarthria, choreoathetosis, no cherry red macula after 2 years of age

A

juvenile or adult-onset Tay Sachs

270
Q

which enzyme is deficient in Tay Sachs

A

hexosaminidase A

AR inheritance

271
Q

prognosis of Tay Sachs

A

infantile- no tx… death by age 4

juvenile/adult- poor prognosis, continued degeneration

272
Q

HSM, thrombocytopneia, Erlenmeyer flask shape to the distal femur
what is it and what enzyme is affected
how is it inherited

A

Gaucher’s disease (most common gangliosidosis)
glucocerebrosidase deficiency
AR inheritance

273
Q

tx and prognosis of gaucher’s

A

if sxs start in infancy, mortality by age 4

can tx with enzyme replacement therapy

274
Q 
by 6 months:
progressive neurodegeneration
ataxia
seizures
HSM
cherry red macula
-what is this and what enzyme?
-what's the prog?
A

niemann pick disease

  • sphingomyelinase deficiency
  • death by age 4
275
Q

ataxia, seizures, progressive MR

death by age 10-20 years

A

metachromatic leukodystrophy

-arylsulfatase A deficiency

276
Q

thickened cranium, J shaped sella, malformed ovoid or beaklike vertebrae, short and thickened clavicles, oar-shaped ribs
-what is this called and what is it found in?

A

dysostosis multiplex, found in mucopolysaccharidoses (lysosomal storage disease)
-along with organomegaly, short stature, MR

277
Q

progressively coarsened facial features, frontal bossing, thickened nasopharyngeal tissues, corneal clouding, hydrocephalus
what is it, what is it caused by

A

hurler syndrome- AR
alpha-L-iduronidase deficiency
most severe mucopolysaccharidosis

278
Q

how to dx hurler syndrome

A

dermatan and heparan sulfates in urine

decreased alpha-L-iduronidase enzyme activity in leukocytes or fibroblasts

279
Q

how to manage hurler and what’s the prognosis

A

tx with early BMT

death by age 10-15 years

280
Q

HSM, hearing loss, small papules over shoulder/scapula,lower back, dysostosis multiplex, NO corneal clouding
what is it
how is it inherited
tx and prog

A

Hunter syndrome
X linked recessive
dx same as for Hurler (derma tan and heparin sulfates in urine, decreased alpha-L-iduronidase activity)
no tx and death by 20 years

281
Q

rapid and severe mental and motor retardation- a mucopolysaccharidosis

A

sanfilippo syndrome

282
Q

mucopolysaccharidosis that does not have mental retardation

-instead, severe scoliosis leading to cor pulmonale results in death by age 40

A

morquio syndrome

283
Q

episodes of personality changes/emotional lability/paresthesias/weakness, colicky abdominal pain, tachycardia/HTN/sweating/fever, and dark burgundy-colored urine

A

porphyrias- elevated serum porphyrins

284
Q

what can precipitate AIP episodes

A

drugs- alcohol, sulfa drugs, OCPs
hormonal surges- pregnancy, menses
poor nutrition

285
Q

how to dx porphyria

A

increased serum and urine porphobilinogen

286
Q

how to manage porphyria

A

IV glucose
correct electrolytes
avoid fasting and precipitating drugs

287
Q

defect in copper excretion

  • kayser fleischer rings
  • behavior changes, dystonia, dysarthria, tremors, ataxia, seizures
  • hepatic dysfunction
A

Wilson’s disease (hepatolenticular degeneration)

AR disorder

288
Q

how to dx wilson’s disease

A

low serum ceruloplasmin- screening test

elevated serum and urine copper

289
Q

how to tx wilson’s disease

A

avoid copper-containing foods (ex. nuts, liver, shellfish, chocolate)
chelation with oral penicillamine and zinc salts
+/- liver transplant

290
Q

abnormal copper transport causes low serum copper

-myoclonic seizures, pale kinky friable hair, optic nerve atrophy, severe, MR, early death

A

menkes kinky-hair disease

291
Q

joints in marfan vs homocystinuria

A

joint laxity in marfan

large stiff joints in homocystinuria

Pediatrics (14 decks)

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