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
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
3
Q
vernix caseosa
A
thick white creamy material found in term infants
4
Q
acrocyanosis
A
cyanosis of hands and feet- common in first 48-72 hours and in some infants the first month of life
5
Q
cutis marmorata
A
mottling of the skin with venous prominence
6
Q
jaundice is ALWAYS abnormal if detected within the first 24 hours of birth (T/F)
A
T
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
8
Q
mongolian spots
A
dark blue hyper pigmented macules over lumbosacral area
-no pathologic significance
9
Q
pustular melanosis
A
benign transient rash
small dry superficial vesicles over a dark macular base
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
11
Q
nevus simplex (salmon patch)
A
most common vascular lesion of infantry
“stork bite”
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)
13
Q
strawberry hemangioma
A
benign proliferative vascular tumor
increase in size after birth and resolve within 18-24 months
14
Q
neonatal acne
A
not present at birth, appears after 1-2 weeks, no tx needed
15
Q
microcaphly is head circumference below _____ percentile
A
10th
16
Q
diffuse swelling of soft tissues of scalp that crosses cranial sutures and the midline
A
caput succedaneum
17
Q
subperiosteal hemorrhages confined and limited by cranial sutures- usually parietal or occipital bones
A
cephalohematomas
18
Q
soft areas of skull with a ping pong ball feel
A
craniotabes
-no intervention needed
19
Q
4 causes of abnormal red reflex in neonate
A
cataracts
glaucoma
retinoblastoma
severe chorioretinitis
20
Q
in neonates, look for this nose abnormality
A
choanal atresia
21
Q
micrognathia
cleft palate
glossoptosis
obstruction of upper airway
A
pierre robin syndrome
22
Q
macroglossia, hemi-hypertrophy, visceromegaly
A
beckwith-wiedemann syndrome
23
Q
macroglossia can also be assoc with ___ and ______
A
hypothyroidism
mucopolysaccharidosis
24
Q
epstein pearls
A
small white epidermoid mucoid cysts found on hard palate that will disappear within a few weeks
25
lateral neck masses
branchial cleft cycsts
| cystic hygromas
26
midline neck mass
thyroglossal duct cyst
| goiter
27
2 causes of neonatal torticollis
being in fixed position in utero
| postnatal hematoma from birth injury
28
edema and webbing of neck suggest ______
turner syndrome
29
chest asymmetry due to absence of formation of ribs or a genesis of pec muscle
poland syndrome
30
prominent vs. depressed sternum
pectus carinatum vs. excavatum
31
tachypnea in a neonate is RR > _____
60
32
preterm infants can breathe irregularly, known as _______
periodic breathing
- short apenic bursts that last less than 5-10 sec
- no clinical significance
33
normal HR in neonate
95-180
34
diminished femoral pulses
| increased femoral pulses
diminished- coarctation of aorta
| increased- PDA
35
check the umbilical cord for ___________
2 arteries and 1 vein
| -abnormalities may indicate congenital renal anomalies
36
diastasis recti
separation of left and right side of rectus abdominis
| -don't worry about it, it'll grow fine
37
how to manage umbilical hernias
most close spontaneously
38
pressing on the bladder makes urine come out of the umbilicus
persistent urachus
| -fistula between bladder and umbilicus
39
meconium plug
obstruction of left colon and rectum
40
meconium ileus
| what can it indicate?
occlusion of distal ileum
| it may indicate cystic fibrosis
41
most normal meconium is passed in the first ____ hours
24 hours
42
MC abdominal mass in a newborn
hydronephrosis
43
hypertrophied clitoris may be due to _____ excess associated with _________
androgen excess
| virilizing adrenal hyperplasia
44
hydrometrocolpos
imperforate hymen with retention of vaginal secretions
| -small cyst between labia at birth or lower abdominal mass later on
45
hypospadias
| does it indicate something else?
urethral meatus is on the ventral surface of the penis
| -not assoc with increased incidence of associated urinary malformations
46
epispadias
urethral meatus on the dorsal surface of penis
47
what is epispadias often assoc with?
bladder extrophy (bladder protrusion from the abdominal wall)
48
prognosis of cryptorchidism
most descend by age 12 months
| if not, higher risk for malignancy
49
hypoplasia or absence of the radius may be assoc with these 3 things
1. TAR syndrome (thrombocytopenia absent radii)
2. Fanconi anemia
3. Holt-Oram syndrome
50
edema of the feet with hypo plastic nails indicate ______ and ______
Turner
| Noonan
51
rocker bottom feet
trisomy 18
52
hernia protrusion of cord and its meninges
myelomeningocele
53
definition of preterm
less than 37 completed weeks
54
definition of post term
more than 42 weeks
55
small for gestational age
infants born weighing below 5th percentile for corresponding gestational age due to intrauterine growth retardation
56
large for gestational age
infants born weighing over 90th percentile for their gestational age at birth
*different from high birth weight which is > 4000grams
57
causes of LGA (large for gestational age)
maternal diabetes
beckwith-wiedemann syndrome
prader-willi syndrome
nesidioblastosis (diffuse prolix of pancreatic islet cells)
58
LGA infants are at high risk for _____ and ______
hypoglycemia and polycythemia
59
how many types of IUGR?
3
60
type I IUGR
early interference with fetal growth from conception to 24 weeks
- chromosomal anomalies
- TORCH infections
- maternal drugs (alcohol, heroin)
- maternal chronic illness (HTN, severe DM)
61
type II IUGR
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
62
type III IUGR
late intrauterine malnutrition after 32 weeks
- placental infarct or fibrosis
- maternal malnutrition
- pregnancy induced HTN
- maternal hypoxemia (lung dz, smoking)
63
cyanosis can be normal in neonates (T/F)
F
| cyanosis is always an emergency in neonates!!!!
64
5 Ts of cyanotic congenital heart disease
```
tetralogy of fallot
TGA
truncus arteriosus
tricuspid atresia
total anomalous pulmonary venous connection
```
65
100% oxygen test in neonates with heart disease
-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
66
100% oxygen test in neonates with lung disease
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
67
respiratory distress syndrome (RDS) is caused by lack of ______
surfactant
68
sufficient quantity of surfactant is produced only after ______ gestation
30-32 weeks
69
how to assess fetal lung maturity
amniocentesis
| if mature, L:S ratio will be greater than 2:1 and phosphatidylglycerol will be present
70
RDS is the MCC respiratory distress in preterm infants (T/F)
T
71
highest demographic risk for RDS
white males
72
how to dx RDS
CXR: diffuse atelectasis with increased density in both lungs and fine, granular, ground-glass appearance, and air bronchograms
73
how to tx RDS
supplemental O2
CPAP +/- ventilation
exogenous surfactant
74
acute complications of RDS
air leaks
intraventricular hemorrhage
sepsis
right to left shunt across PDA
75
pathologic changes in immature lung affecting both parenchyma and airways... altering normal lung growth
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
76
any condition that causes low blood flow to the lungs (except congenital heart diseases)
-increased right to left shunting through foramen ovale or PDA
persistent pulmonary HTN of the newborn
77
two MCC of persistent pulmonary HTN of newborn
perinatal asphyxia
| meconium aspiration syndrome
78
how to work up PPHN (persistent pulmonary HTN of newborn)
CXR is variable
| do an echo to r/o heart issues and to assess shunting
79
how to manage PPHN
oxygen
+/- mechanical ventilation
+/- ECMO
inhaled nitric oxide may be a good pulmonary vasodilator
80
______ is often passed as a consequence of distress (ex. hypoxemia) in the fetus at term and becomes more frequent after 42 weeks gestation
meconium
81
how to evaluate for meconium aspiration syndrome (MAS)
- history of seeing meconium at or before delivery
- CXR: increased lung volume with diffuse patchy areas of atelectasis and parenchymal infiltrates alternating with hyperinflation
82
how to manage MAS
- prevention is key via suctioning
| - O2 +/- mechanical ventilation and ECMO
83
respiratory pause without airflow lasting more than 15-20 seconds or of any duration if accompanied by bradycardia and cyanosis or oxygen desaturation
apnea of prematurity
84
most common type of apnea of prematurity
mixed apnea (central and apnea secondary to airway obstruction)
85
idiopathic apnea of prematurity is a dx of exclusion and usually resolves by post conceptional age of 38-44 weeks
yep
| -can tx with respiratory stimulant medications such as caffeine or theophylline
86
most common type of jaundice in the neonate
indirect hyperbilirubinemia that is physiologic
87
visible juandice in the neonate occurs when bill is > _____
5 mg/dL
88
physiologic jaundice is _____ hyperbili
| 2 causes of this
indirect/unconjugated
| causes: increased bilirubin load, delayed activity of hepatic enzyme glucuronyl transferase
89
max indirect bili level in physiologic jaundice
5-16 by day 3-4 in term infants
| peak is at 5-7 days in preterm infants
90
indirect vs. direct hyperbilirubinemia definitions
indirect: direct is < 15% of total
direct: direct is > 15% of total**** this one is always pathologic in neonates
91
breastfeeding jaundice occurs _______
| pathophys?
during first week of life
| poor intake --> weight loss and dehydration --> decreased passage of stool --> decreased excretion of bili in the stool
92
breast milk jaundice occurs ______
| pathophys?
after first week of life... highest at week 2-3, may persist to week 10
breast milk has lots of beta-glucuronidase and lipase
93
when does jaundice need to be evaluated
- 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)
94
how to evaluate indirect hyperbilirubinemia
CBC
retics
smear
sepsis
95
how to evaluate direct hyperbilirubinemia
hepatic US to look for choledochal cyst
serologies for viral hepatitis
radioisotope scans of the hepatobiliary tree
sepsis
96
two inherited causes of indirect hyperbilirubinemia
crigler-najjar syndrome
| gilbert's disease
97
how to manage physiologic jaundice
serial bili assessments
observation
reassurance
98
how to manage more pathologic jaundice
- 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
99
complications of hyperbili include kernicterus
there is damage in these 3 parts of the brain:
clinical features include:
- basal ganglia, hippocampus, brainstem nuclei
| - choreoathetoid cerebral palsy, hearing loss, opisthotonus, seizures, oculomotor paralysis
100
neonate is jittiriness, hyperreflexia, irritability, tremulousness, feeding intolerance, excessive wakefulness
signs of neonate in withdrawal
101
esophageal atresia is often assoc with ________
polyhydramnios
102
most common type of esophageal atresia
esophageal atresia with a distal tracheoesophageal fistula
103
clinical features of esophageal atresia
| how to tx
copious oropharyngeal secretions
VACTERL association (congenital heart disease, anorectal, skeletal, or renal malformations)
tx with surgical repair
104
congenital diaphragmatic hernia most often occurs on the ____ side
left
105
how to dx congenital diaphragmatic hernia
fetal ultrasound
106
clinical features of congenital diaphragmatic hernia
```
scaphoid abdomen (abdominal contents in the thorax)
respiratory insufficiency from pulmonary hypoplasia
CXR can have characteristic findings
```
107
how to manage congenital diaphragmatic hernia
DO NOT bag and mask ventilate
intubate and mechanical ventilation
surgical repair once infant is stable
108
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)
omphalocele
109
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
gastroschisis
110
MCC obstruction in the neonatal period
intestinal atresia
111
soap bubble appearance
| minimal air fluid levels
meconium ileus
112
meconium ileus is a manifestation of ________
cystic fibrosis
| -abnormal accumulation of intestinal secretions of deficiency of pancreatic enzymes --> more viscous
113
clinical signs of meconium ileus
abdominal distension
lack of meconium passage
vomiting
114
how to tx meconium ileus
enemas to relieve the obstruction
115
intestinal malrotation may be caused by ______
volvulus
116
lack of caudal migration of ganglion cells from the neural crest
hirschsprung disease
117
most hirschsprung pts are _____ (male/female) and most have family history
male
118
how to dx hirschsprung
rectal biopsy shows lack of ganglion cells
119
how to tx hirschsprung
resection of affected segment or colostomy
120
abdominal distention, air fluid levels, thickened bowel walls, pneumastosis intestinalis (air in the bowel wall), venous portal gas
necrotizing enterocolitis (NEC)
121
how to manage NEC both medically and surgically
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
hypoglycemia is glucose < _____
40
123
conditions that result in insulin excess and therefore hypoglycemia in neonates
infants of diabetic mothers
| nesidioblastosis (insulin producing tumors or islet cell hyperplasia)
124
how to tx hypoglycemia in neonate
increase oral feeding
| if needed, IV glucose
125
infants of diabetic mothers (IDMs) are large because of ____ and ______
increased body fat
| visceromegaly (liver, adrenals, heart)
126
in IDMs, skeletal length is increased in proportion to weight but head and face appear disproportionately small
yep
127
IDMs are typically LGA but can be SGA as well
yep
| due to severe diabetes induced vascular complications
128
IDMs can get this exclusive GI problem
small left colon syndrome
| -meconium fails to pass through
129
polycythemia is central venous hematocrit > ______
65%
130
causes of polycythemia in neonates
- placental insufficiency
- hypoxemia
- delayed cord clamping
131
polycythemia can increase risk of NEC
yep
132
how to tx polycythemia
partial exchange transfusion
| -take out blood and replace with normal saline
133
bilirubin encephalopathy is only caused by _____ bilirubin
indirect
134
there is no known association between Down syndrome and NEC or duodenal atresia
F
- no assoc between Down syndrome and NEC
- there is an assoc between Down syndrome and duodenal atresia
135
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?
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
intrinsically abnormal process forms abnormal tissue (ex. bladder extrophy)
malformation
137
mechanical forces exerted on normal tissue result in abnormal tissue
deformation
138
normal tissue becomes abnormal after being subjected to destructive forces
disruption
139
elevated AFP can indicate
```
neural tube defects
multiple gestation pregnancies
underestimated gestational age
ventral abd wall defects
fetal demise
edema or skin defects
```
140
low AFP can indicate
overestimated gestational age
trisomies 21 and 18
IUGR
141
low AFP, low unconjugated estriol, high beta-HCG
Down syndrome
142
low AFP, low unconjugated estriol, low beta-HCG
trisomy 18
143
chorionic villus sampling occurs during weeks _____
10-13 wks
144
amniocentesis occurs during weeks _______
16-18
145
marfan is an autosomal _______ connective tissue disease that mainly involves these 3 organ systems
dominant
| ocular, cardiovascular, skeletal
146
gene and chromosome in Marfan
fibrillin gene on chromosome 15
147
```
tall stature with elongated extremities and long fingers
joint laxity
chest wall deformities
scoliosis or kyphosis
decreased upper-to-tower segment ratio
```
marfan
148
ocular findings in marfan
upward lens subluxation and retinal detachment
149
cardiovascular findings in marfan
aortic root dilatation, MVP, aortic regurg
150
how to decrease risk of sudden death in marfan
beta blockers and avoidance of contact sports b/c sudden death is mostly due to aortic dissection
151
marfan prophylactic stuff
endocarditis ppx
| regular ophtho exams
152
almond shaped eyes, fishlike mouth, short stature with small hands and feet
prader willi
153
growth issues in prader willi
FTT due to feeding problems in year 1
| obesity later in childhood and adulthood due to hyperphagia
154
neuro and sexual effects of prader willi
hypotonia as newborn
mental retardation, learning disabilities, behavioral issues
hypogonadism or cryptorchidism
155
"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
Angelman syndrome
156
- short stature and shield chest
- short webbed neck and low hairline, hypertelorism, epicentral skin folds
- downslanting palpebral fissures, low set ears
noonan syndrome- "male version of Turner syndrome" but females can be affected
-cases are usually sporadic
157
what chromosome is noonan syndrome on?
chromosome 12
158
cardiac defect with noonan
right sided heart lesions like pulmonary valve stenosis
| *compare to Turner syndrome which has left sided heart lesions
159
noonan intelligence
25% have mental retardation
160
-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?
DiGeorge syndrome
deletion at chromosome 22q11
issue with 3rd and 4th pharyngeal pouches
161
-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
velocardiofacial syndrome
| deletion of 22q11
162
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
Ehlers-Danlos syndrome
163
- blue sclera
- yellow or gray-blue teeth
- fragile bones resulting in frequent fractures
osteogenesis imperfecta (OI)
164
complications of osteogenesis imperfecta
early conductive hearing loss
| skeletal deformities as a result of fractures
165
what is abnormal in osteogensis imperfecta
abnormal type I collagen
166
VACTERL
```
vertebral defects
anal atresia
cardiac anomalies mainly VSD
tracheoesophageal fistula
renal and genital defects
limb defects
```
167
CHARGE association
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
```
"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
```
williams syndrome
| chromosome 7 deletion including the gene for elastin
169
- 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
cornelia de lange (brachmann de lange) syndrome
| inheritance is mostly sporadic
170
- SGA
- short stature and skeletal asymmetry with normal head circumference
- small triangular face
- cafe au lair spots
- excessive sweating
Russell Silver syndrome
171
- micrognathia, cleft lip and palate
- recurrent otitis media and upper airway obstruction perhaps requiring teach
- feeding can be difficult 2/2 palate problems
Pierre Robin syndrome
172
cri du chat syndrome
- characteristic cat like cry
- which chromosome?
partial deletion of the short arm of chromosome 5
173
most common trisomy syndrome
trisomy 21 (Down syndrome)
174
- 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
down syndrome
175
complications of down syndrome
```
antlantoaxial cervical spine instability
leukemia
celiac disease
early AD
OSA
conductive hearing loss
hypothyroidism
cataracts, glaucoma, refractive errors
```
176
______ is the second most common trisomy syndrome and is more common in ________ (males/females)
trisomy 18
| females
177
scissoring of lower extremities
delicate small facial features
clenched hands with overlapping digits
rocker bottom feet
trisomy 18
178
most trisomy 18 patients live until their teenage years (T/F)
F
| most die within first year
179
- midline defects of face and forebrain
- holoprosencephaly
- microphthalmia, rarely a single eye
- cleft lip and palate
trisomy 13
180
prognosis for trisomy 13
poor
| most die in first month
181
- short stature
- webbed neck
- shield chest
- swelling of dorsum of hands and feet
- delayed puberty 2/2 ovarian dysgenesis
turner syndrome (XO)
182
consider _______ in any case of delayed puberty
turner syndrome
183
common cardiac issues in turner
left sided heart lesions, esp coarctation of aorta
| -bicuspid aortic valve and hypoplastic left heart as well
184
MR, large ears, large testes, behavioral problems
fragile X
185
which repeat is in fragile X
CGG repeats
186
most common inherited cause of mental retardation
fragile X
187
most common cause of male hypogonadism and infertility
- tall stature with long extremities
- hypogonadism and delayed puberty
- gynecomastia
- behavioral findings: antisocial, shy, aggressive
klinefelters syndrome
| XXY
188
skeletal dysplasia
short stature caused by bone growth abnormalities
189
rhizomelia
proximal long bone abnormalities (ex. humerus and femur)
190
mesomelia
medial long bone abnormalities (ex. ulna and tibia)
191
acromelia
distal bone abnormalities (ex. small hands and feet)
192
abnormalities of the spine
spondylodysplasias
193
rhizomelia disorder... most common skeletal dysplasia
achondroplasia
194
achondroplasia risk increases with advancing ______ age
- it's caused by mutation in gene for _______
- inheritance is _______ but most cases are sporadic
paternal
FGF3 receptor
autosomal dominant
195
findings in achondroplasia:
craniofacial
skeletal
ear
- 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
```
severe oligohydramnios (decreased amniotic fluid) can cause _________
describe it
```
potter syndrome
| -lung hypoplasia and fetal compression
197
severe oligohydramnios can be caused by _______ or _______
chronic amniotic fluid leak
| intrauterine renal failure
198
rupture of amniotic sac --> fluid leak --> intrauterine constraint and small strands from the amnion may wrap around the fetus --> _________
amniotic band syndrome (amnion rupture sequence)
199
most common congenital anomalies of the CNS
neural tube defects
200
teratogen: microcephaly, short palpebral fissures, long smooth philtrum, variable MR
alcohol
201
teratogen: SGA, polycythemia
cigarettes
202
teratogen: IUGR, microcephaly, GU tract issues
cocaine
203
teratogen: increased risk of cervical carcinoma, GU anomalies
DES
204
teratogen: CNS malformations, microtia, cardiac defects, thymic hypoplasia
isotretinoin
205
teratogen: wide anterior fontanelle, thick hair with low hairline, small nails, cardiac defects
phenytoin
206
teratogen: hypothyroidism, goiter
PTU
207
teratogen: phocomelia (malformed extremities resulting in flipperlike appendanges)
thalidomide
208
teratogen: narrow head, high forehead, mid face hypoplasia, spin bifid a, cardiac defects, convex nails
valproic acid
209
teratogen: hypoplastic nose with a deep groove between nasal ale and the nasal tip, stippling of the pipyses, hypo plastic nails
warfarin
210
in terms of IEMs, chronic and progressive sxs are typical of __________
mitochondrial diseases
211
when you suspect an IEM, always check for ____ first
sepsis!
212
initial labs to check when you suspect IEM
metabolic acidosis
| elevated serum ammonia
213
how to manage IEM
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
IEM: mousey/musty smell
PKU
215
IEM: sweet maple syrup smell
maple syrup urine disease
216
IEM: sweaty feet smell
isovaleric or glutaric acidemia
217
IEM: rotten cabbage smell
hereditary tyrosinemia
218
hypoglycemia with ketosis is suggestive of ___ and _____
organic acidemias and carbohydrate disease
219
serum NH3 > 200 is suggestive of ________
urea cycle defects
220
elevated NH3 and metabolic acidosis are suggestive of _______
organic acidemias
221
urinary ketones are normal in a neonate (T/F)
F
| they're always abnormal
222
in older children, absence of ketones with hypoglycemia is suspicious for ________
fatty acid oxidation defect
223
in the urine, nonglucose-reducing substance is suggestive of _______
galactosemia
224
if metabolic acidosis is present, get these labs
serum lactate and pyruvate
| plasma amino acids
225
if increased ammonia is present, get these labs
plasma amino acids --> aminoacidemias
| urine organic acids --> elevated orotic acid leads to OTC deficiency
226
IEM with marfanoid body habits w/o arachnodactyly
homocystinuria
227
homocystinuria is caused by _________ deficiency
| it is autosomal ______
cystathionine synthase
| recessive
228
homocystinuria:
_______ lens subluxation (diff from marfan)
CV issues include ________
in terms of heme stuff, these pts are _______
downward
mitral or aortic regurg but no aortic dilatation
hypercoagulable --> stroke, MI, DVT
-these ppl also have scoliosis and developmental delay
229
how to dx homocystinuria
- increased methionine in urine and plasma
| - positive urinary cyanide nitroprusside test
230
how to manage homocytinuria
methionine restricted diet
ASA
folic acid
bitamin B6
231
this can occur in premature infants who receive high protein diets
transient tyrosinemia of the newborn
232
transient tyrosinemia of the newborn
- clinical features
- dx
- management
- prognosis
- 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
IEM that causes renal stones
| which molecules are affected?
cystinuria- autosomal recessive
| defect in renal reabsorption of cystine, lysine, arginine, ornithine (CLAO)
234
maybe asymptomatic but also maybe intermittent ataxia, photosensitive rash, MR, and emotional lability
Hartnup disease- autosomal recessive
| defect in transport of neutral amino acids
235
premature infant has respiratory distress, alkalosis, vomiting, lethargy rapidly progressing to coma...what could it be and how do you tx it?
transient hyperammonemia of the newborn- this is self limited but you must tx the hyperammonemia to prevent neuro sequelae
236
vomiting, ataxia, and lethargy with the onset of protein ingestion
what is it and how is it inherited?
ornithine transcarbamylase deficiency (most common urea cycle defect)
X linked recessive
237
how to dx OTC deficiency
elevated urine orotic acid
decreased serum citrulline
increased ornithine
liver bx
238
how to manage OTC deficiency
low protein diet
manage the hyperammonemia
-prognosis depends on episodes of hyperammonemia and neurologic sequelae
239
PKU inheritance
AR
240
```
developmental delay
infantile hypotonia
mousy or musty odor
progressive MR
eczema
light eyes and hair
```
PKU
241
how to dx PKU
increased phenylalanine:tyrosine ratio in serum
242
how to manage PKU
phenylalanine restricted diet
| *if you do this before 1 month, IQ will be near normal
243
```
progressive vomiting and poor feeding
lethargy, hypotonia, coma
developmental delay
hypoglycemia and severe acidosis during episodes
urine smells sweet
```
maple syrup urine disease
244
inherence of maple syrup urine disease
AR
245
how to dx maple syrup urine disease
increased serum and urine branched chain amino acids
246
how to tx maple syrup urine disease
dietary protein restriction
| *if restrict in first 2 weeks of life, may avert neuro damage
247
episodes of peripheral neuropathy
chronic liver dz
odor of rotten fish or cabbage
renal tubular dysfunction
tyrosinemia type I
248
inheritance of tyrosinemia type I
AR
249
how to dx tyrosinemia type I
succinylacetone in urine
250
how to tx tyrosinemia type I
dietary restriction of phenylalanine, tyrosine, NTBC
| liver transplant
251
tyrosinemia type I prognosis
death by year 1 if disease begins in infancy
| increased risk of HCC and cirrhosis
252
newborn with hypoglycemia and hepatomegaly... suspect this
galactosemia
| AR disorder caused by galactose-1-phosphate uridyltransferase deficiency
253
features of galactosemia
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
how to dx galactosemia
nonglucose-reducing substance in urine via clinitest
| confirmation of enzyme deficiency in RBCs
255
management and prognosis of galactosemia
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
hypoglycemia, vomiting, diarrhea, FTT, seizures after fruit/fruit juice
herediatry fructose intolerance
| --> avoid fructose, sucrose, and sorbitol
257
IEM with organomegaly and metabolic acidosis
glycogen storage diseases
258
glucose-6-phosphatase deficiency
| -persistent hypoglycemia, hepatomegaly, metabolic acidosis, hypertriglyceridemia, enlarged kidneys
glycogen storage disease type 1 (von gierke's disease)- AR
259
how to tx GSD type 1
frequency feeding with complex carbs
260
GSD type 1 pts at high risk for _______
HCC
261
alpha-glucosidase deficiency
| -flaccid weakness, progressive cardiomegaly, poor feeding, hepatomegaly, and acidosis in first 2 weeks
glycogen storage disease type 2 (pomp's disease)
262
nonketotic hypoglycemia, hyperammonemia, myopathy, cardiomyopathy
FAO defects
263
which is the most common FAO defect
medium chain acyl coA dehydrogenase deficiency
264
how to manage FAO defects
frequent feedings with high carb, low fat diet
| can give carnitine supplementation during acute episodes
265
ophthalmoplegia, pigmentary degeneration of the retina, hearing loss, heart block, neurologic degeneration
Kearns-Sayre syndrome (mitochondrial disease)
266
mitochondrial encephalopathy, lactic acidosis, strokelike episodes
MELAS (mitochondrial disease)
267
how to dx mitochondrial dz
tissue biopsy
268
decreasing eye contact, hypotonia, mild motor weakness, increased startle due to hyperacusis
- macrocephaly
- cherry red macula
- severe developmental delay
infantile onset Tay Sachs
269
ataxia, dysarthria, choreoathetosis, no cherry red macula after 2 years of age
juvenile or adult-onset Tay Sachs
270
which enzyme is deficient in Tay Sachs
hexosaminidase A
| AR inheritance
271
prognosis of Tay Sachs
infantile- no tx... death by age 4
| juvenile/adult- poor prognosis, continued degeneration
272
HSM, thrombocytopneia, Erlenmeyer flask shape to the distal femur
what is it and what enzyme is affected
how is it inherited
Gaucher's disease (most common gangliosidosis)
glucocerebrosidase deficiency
AR inheritance
273
tx and prognosis of gaucher's
if sxs start in infancy, mortality by age 4
| can tx with enzyme replacement therapy
274
```
by 6 months:
progressive neurodegeneration
ataxia
seizures
HSM
cherry red macula
-what is this and what enzyme?
-what's the prog?
```
niemann pick disease
- sphingomyelinase deficiency
- death by age 4
275
ataxia, seizures, progressive MR
| death by age 10-20 years
metachromatic leukodystrophy
| -arylsulfatase A deficiency
276
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?
dysostosis multiplex, found in mucopolysaccharidoses (lysosomal storage disease)
-along with organomegaly, short stature, MR
277
progressively coarsened facial features, frontal bossing, thickened nasopharyngeal tissues, corneal clouding, hydrocephalus
what is it, what is it caused by
hurler syndrome- AR
alpha-L-iduronidase deficiency
most severe mucopolysaccharidosis
278
how to dx hurler syndrome
dermatan and heparan sulfates in urine
| decreased alpha-L-iduronidase enzyme activity in leukocytes or fibroblasts
279
how to manage hurler and what's the prognosis
tx with early BMT
| death by age 10-15 years
280
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
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
rapid and severe mental and motor retardation- a mucopolysaccharidosis
sanfilippo syndrome
282
mucopolysaccharidosis that does not have mental retardation
| -instead, severe scoliosis leading to cor pulmonale results in death by age 40
morquio syndrome
283
episodes of personality changes/emotional lability/paresthesias/weakness, colicky abdominal pain, tachycardia/HTN/sweating/fever, and dark burgundy-colored urine
porphyrias- elevated serum porphyrins
284
what can precipitate AIP episodes
drugs- alcohol, sulfa drugs, OCPs
hormonal surges- pregnancy, menses
poor nutrition
285
how to dx porphyria
increased serum and urine porphobilinogen
286
how to manage porphyria
IV glucose
correct electrolytes
avoid fasting and precipitating drugs
287
defect in copper excretion
- kayser fleischer rings
- behavior changes, dystonia, dysarthria, tremors, ataxia, seizures
- hepatic dysfunction
Wilson's disease (hepatolenticular degeneration)
| AR disorder
288
how to dx wilson's disease
low serum ceruloplasmin- screening test
| elevated serum and urine copper
289
how to tx wilson's disease
avoid copper-containing foods (ex. nuts, liver, shellfish, chocolate)
chelation with oral penicillamine and zinc salts
+/- liver transplant
290
abnormal copper transport causes low serum copper
| -myoclonic seizures, pale kinky friable hair, optic nerve atrophy, severe, MR, early death
menkes kinky-hair disease
291
joints in marfan vs homocystinuria
joint laxity in marfan
| large stiff joints in homocystinuria
