Pediatrics Flashcards
(141 cards)
1
Q
At what point should an infant have regained her birthweight after initial weight loss?
What about at 4 months, 12 months, and 24 months?
A
2 weeks
double by 4 months
triples at 12 months
quaduples at 24 months
2
Q
How much weight should a child gain per year?
A
from 2-13 years, weight gain is about 5 pounds per year
3
Q
inadequate weight gain
A
poor food intake chronic vomiting or diarrhea malabsorption neoplasm congenital diseases
4
Q
failure to thrive
A
weight
5
Q
Complications of obesity
A
rapid growth sleep apnea HTN SCFE precocious puberty increased incidence of skin infections social dysfunction earlier development of 2DM
6
Q
Height, or birth length at 1 year, 4 years, 13 years
A
1 year: increased by 50%
4 years: double
13 years: triple
2-13year: 2 inches/year
7
Q
Greater-than-normal height
A
familial tall stature precocious puberty gigantism hyperthyroidism klinefelter syndrome Marfan syndrome obesity
8
Q
lower-than-normal height
A
familial short stature neglect constitutional growth delay asthma CF TUrner IBD immunologic disease growth hormone deficiency hypothyroidism glucocorticoid excess skeletal dysplasia neoplasm
9
Q
Macrocephaly
A
Cerebral metabolic diseases:
- Tay-Sachs
- Maple syrup urine disease
Neurocutaneous syndromes
- neurofibromatosis
- tuberous sclerosis
Hydrocephalus increased intracranial pressure skeletal dysplasia acromegaly intracranial hemorrhage
10
Q
Microcephaly
A
fetal toxin exposure- fetal alcohol syndrome
chromosomal trisomies congenital infections cranial anatomic abnormalities metabolic disorders neural tube defects
11
Q
how to address growth defects
A
treat underlying disorder
intervention in abuse cases
parent education
thorough family history
12
Q
developmental milestones during childhood: 2 months
A
social smile
lefts head 45 degrees
eyes follow object to midline
isn’t talking but can coo
13
Q
developmental milestones during childhood: 4 months
A
laughs is aware of caregiver localizes sound lifts head to 90 degrees when on stomach fine motor- can follow an object with eyes past midline
14
Q
developmental milestones during childhood: 6 months
A
differentiates parents for others stranger anxiety grasps objects, or rakes objects toward self attempts to feed self babbles
15
Q
developmental milestones during childhood: 9 months
A
interactive games
separation anxiety
crawling, pulls to stand
16
Q
developmental milestones during childhood: 12 months
A
taking first steps
pincer grasp
makes 2-block tower
5-10 word vocabulary
17
Q
developmental milestones during childhood: 18 months
A
parallel play walks well walks backward tower of 4 blocks can use a cup and spoon
18
Q
developmental milestones during childhood: 2 years
A
dresses self with help
runs
climbs stairs
gender identity around 2-3 years old (around time of potty training)
6 block tower
50-75 words; 3-word sentences
19
Q
developmental milestones during childhood: 3 years
A
magical thinking
climbs/descends stairs
makes a tower of 9 blocks
draws a circle
20
Q
developmental milestones during childhood: 4 years
A
plays with others hop on 2 foot draws a line image and a closed figure (triangle, square) 250 or more words
21
Q
developmental milestones during childhood: 6 years
A
skips
can draw a stick figure person
22
Q
When do infant reflexes disappear?
A
by 6 months
after this, suggestive of CNS abnormalities esp in context of
perinatal complications
23
Q
rooting reflex
A
rubbing the cheek causes turning the cheek towards the stim
24
Q
Tonic reflex
A
face turns, arm on face side extends and other arm flexes
25
placing reflex
rubbing dorsum of foot causes that foot to step up
26
Anticipatory guidance:
| newborn to 1 week
sleep on back to prevent SIDS
"back to sleep" campaign
baby does not need to bath every day
27
Anticipatory guidance:
| 4-6 months
begin feeding solid foods
usually first food is iron- fortified cereal
28
Anticipatory guidance:
| 12 months
can introduce cow's milk
| before 12 months, hemorrhage in the gut is more likely
29
When do kids start seeing the dentist?
2-3 yo
if cavities have begun, then go to the dentist with six months of first tooth eruption
unless there are risk factors (brushing less than once a day, caregivers with lots of cavities, etc.)
30
Anticipatory guidance:
| 2-3YO
can start seeing dentist
31
Anticipatory guidance:
| 3yo
regular sleep schedule
| television limitation
32
when do you see kids for wellchilld visits?
```
2 days
2 weeks
1 month
2 months
4 months
6 months
```
every 3 months from 6-18 months
every year after 2 years old
33
how many DTaP vaccines does a kid get?
5
34
how many Hib vaccines does a kid get?
4
35
how many PCV vaccines does a kid get?
4
36
When do you give HepB vaccine?
at birth
37
When do you give Tdap vaccine?
11-12 yo
38
When do you give meningococcal vaccine (MCV4)
at 11-12 years, with a booster at 16yo
39
when do you give HPV vaccines? there are 3
11-12 yo to males and females both
40
when do you give flu vaccines?
annually
| >6 months
41
appropriate use of car seats
42
How many calories are present in an ounce of breast milk? How many calories are present in an ounce of formula?
20 kcal/ounce
breast milk is designed to be this way
43
What are the caloric needs for an infant younger than 6 months?
100-120 kcal/kg/day
44
What work-up should be performed on a newborn with a single umbilical arter?
occurs in about 0.5% of births and 20-30% of these infants have major structural anomalias
Work this up with renal ultrasound, as 7% will have clinically significant (but asymptomatic) renal anomalies
45
What are the most common problems that arise in premature infants?
```
respiratory distress syndrome (RDS)
hypoglycemia
persistent PDA
infection/sepsis
retinopathy of prematurity
intraventricular hemorrhage
necrotizing enterocolitis
```
in a NICU, these are the things you would try to treat and prevent
46
caput succedaneum
edema in the scalp
| crosses the midline and diminishes after a few days
47
cephalohematoma
subperiosteal hemorrhage
edema does not cross suture lines
resolves in weeks to months
more likely with vacuum deliveries, increased risk of jaundice as blood breaks down
48
bloody vaginal discharge in a the first few days of life
withdrawl of hormones leads to menstruation. there is nothing to do about this
49
cutis marmorata
spider webbing or marbling of the skin
| not concerning
50
erythema toxicum neonatorum
2-3 mm yellow pustule with red base
similar in appearance to a whitehead
arising in the first 24-72 hours of life, microscopic examination of the pustular contents (not necessarily for diagnosis), reveals numerous eosinophils, that are usually gone by 3 weeks.
Tell the parents to leave this alone
51
Harlequin color change
intense reddening of gravity- dependent side and blanching of the nondependent side with a line of demarcation between the two, lasts a few seconds-minutes, affects 10% of newborns (more common in newborns), most common in first few days of life, may be due to immaturity of autonomic innervation to skin vessels. Completely benign and will resolve in days to 3 weeks.
52
macular stains (stork bites)
permanent vascular malformations, commonly at the nape of the neck, but also at upper eyelids and middle forehead
Benign but permanent.
53
Milia (or miliaria)
sweat accumulated beneath eccrine sweat ducts
obstructed by keritin at stratum corneum
usually develops in the first week after birth, with excess clothing or fever
54
Mongolian spots
benign,
| will fade in 1-2 years
55
Neonatal acne
20% of infants
onset around 3 weeks of age
mild lesions should be left alone and will resolve in about 4 months
severe inflammation managed with retinoids, or benzoyl peroxide
56
infantile acne
different than neonatal acne, onset usually at 3-4 months of age, yellow papules around nose and cheeks, usually clear by age 1, but may persis until age 3. Severe inflammation can be managed with benzoyl peroxide or topical retinoids
57
transient neonatal pustular melanosis
Superficial pustules overlying hyperpigmented macules.
| Tell parents to leave these alone
58
what medications can be used to treat thrush in infants?
you can't swab it off (unlike milk)
Treat:
nystatin oral suspension for a couple of weeks
59
What are the risk factors for sudden infant death syndrome (SIDS)?
Usually occurs at 2-4 months old
Usually occurs while infant is sleeping
Maternal risk factors: low socioeconomic status, age
60
Anterior fontanelle- when should it close? what would you suspect if it did not close?
closed in 1% by age 3 months
38% by 12 months
96% by 24 months
If closure is delayed, consider Down syndrome, achondroplasia, rickets, congenital hypothyroidism, and increased intracranial pressure
If closure
61
Adolescence
a period of rapid, physical, psychosocial, and sexual growth and maturity leading into adulthood
from 10-19 yo
before this, would be considered precocious puberty
62
Early adolescence: age 10-13
| psychosocial
concrete thinking
| early independent behavior
63
middle adolescence: 14-16
| psychosocial
emergency of sexuality
increased desire for independence
self- absorption
development of abstract thought
64
late adolescence (age 17-21)
increased self awareness
increased confidence in own abilities
open relationship with parents
cognitive maturity
65
Adolescents are more likely to exhibit...
risk-taking behavior:
- drug use
- unprotected sexual activity
- violence
accidents are the number cause of death in teenagers
depression
suicidal ideation
homicide
eating disorders
66
What should you ask an adolescent?
Stress right to confidentiality
SHADESSS
```
Strengths (you are an advocate)
Home environment
Activities
Drugs and alcohol
Education and employment
Sexual activity
Suicide (or depression)
Safety
```
focus the exam on derm issues, sexual maturation,
height and weight growth, and examine boys for scrotal masses, HTN, HLD, obesity, DM
67
2-3 mm yellow pustule with red base, looks like a whitehead, arising in the first 24-72 hours, microscopic examination of the pustular contents (not necessary for diagnosis) reveals numerous eosinophils, usually gone by 3 weeks
erythema toxicum neonatorum
68
spider-webbing/marbling of skin
cutis marmorata
69
intense gravity- dependant reddening and blanching of nondependent side with a line of demarcation lasting a few seconds- minutes
Harlequin color change
70
Due to accumulation of sweat beneath eccrine sweat ducts that are obstructed by keratin at the stratum corneum
milia
71
What do you give to enhance fetal lung maturity? How long do you give it for? at what age do you no longer need to give it?
Corticosteroids:
betamethasone
dexamethasone
given for 48 hours
recommended up to 34 weeks gestation
72
clinical features of measels infection?
Prodrome for 2-3 days: fever, malaise, anorexia, and 3 C's (cough, coryza, conjunctivitis)
coryza is nasal congestion and inflammation
Then, after 1-2 days you'll see Koplik spots on the buccal mucosa and palate, that appear 48 hours before the rash
Rash begins 5 days after onset of prodrome, starting at the head and spreading to the feet, lasts 4-5 days, then resolves from the head down
Treat: supportive therapy and vitamin A
ribavirin
73
What is the treatment for measles in detail?
```
Supportive therapy (antipyretics, fluids)
Monitoring and treating bacterial superinfections such as pneumonia or otitis media
```
Vitamin A
-100,000 IU PO x1 in 6-12 mo
200,000 IU PO x1 if older than 12 months
- WHO recommends vitamin A to all children with measles in areas where vitamin A deficiency is prevalent and measles mortality exceeds 1%
- AAP recommends vitamin A given as above to children 6 months-12 years hospitalized for measles or its complications, or if immunodeficient or high likelihood of vitamin A deficiency (opthalmoplegic evidence, intestinal malabsorption, malnutrition or recent immigration from an area with high measles mortality)
Ribavirin is not well studied and not currently standard of care for measles, despite that it harms measles virus in vitro
74
What are the classic features of rubella virus (German measles)?
- low-grade fever, lymphadenopathy, and rash
- prodromal malaise, fever, anorexia for 1-5 days prior to rash
- lymphadenopathy involving suboccipital and posterior cervical nodes
The rash, about 5 days, is erythematous, tender, maculopapular,
unlike measles, it does not darken or coalesce
The fever is milder and shorter (only 1 day) than measles
polyarthritis may be seen for up to a month in women and adolscents
75
What are the characteristic features of Coxsackie hand, foot, and mouth disease
- constitutional fever and anorexia
- oral vesicles on the buccal mucosa and tongue
- small, tender, maculopapular/vesicular rash on the hands, feet, and sometimes buttocks
duration is typically 3-5 days without complications
76
what are the signs and symptoms of scarlet fever cause by strep. pyogenes?
rash that is
-coarse ("sandpaper-like"), erythematous and blanching ("sunburn-like")
- starts on the trunk then generalizes but spares the palms and soles
- most prominent in the skin creases of axilla and groin (Pastia's lines/sign)
- strawberry tongue, beefy-red pharynx, cervical LAD
- fever/chills
later, desquamation of hands and feet
distinguished from Kawasaki bu positive throat culture or rapid strep test
77
Roseola infantum- characteristic symptoms
sudden, high fever (exceeding 102 F) for 3-4 days
child has no other signs of infection and often acts/plays normally
Then as the fever starts to dissipate, the patient gets a rash on the trunk/ entire body, that is usually gone within 24 hours
Other common findings: erythematous papules on soft palate and uvula, mild cervical LAD, edematous eyelids, bulding anterior fontanelle in infants.
Treatment: antipyretics as needed to lower the fever
78
What is the differential diagnosis for cervical lymphadenitis in a child?
if acute and bilateral- usually viral
-URIs rhinovirus, adenovirus, influenza, group A streptococcus
Mono: EBV, CMV, mycoplasma
Other viruses: HIV, HSV
If acute and unilateral- usually bacterial (s. aureus, group A strep > anaerobes, GBS)
If chronic and unilateral:
- bartonella henselae- cat scratch fever
- toxoplamosis
- TB- scrofula
- actinomyces israelii- sinuses drain pus
Noninfectious causes (much less common): Kawasaki disease, Hodgkin lymphoma
79
PFAPA syndrome
benign, recurrent 4-5 day syndrome consisting of Periodic Fever, Aphthous ulcers, Pharyngitis, and Adenitis
- occurs monthly (every 28 days)
- exclusion criteria include neutropenia, cough, coryza, diarrhea, severe abdominal pain, rash, arthritis, neuro defects
usually affects preschool- aged children (2-5 yo), usulaly goes away before age 10
benign, self- limiting disease
treatment:
-glucocorticoids relieve symptoms in a matter of hours
-cimetidine may be used for prevention of episodes, but is of questionable efficacy
-average duration of recurring symptoms is 4.5 years
80
Pertussis (whooping cough)
1. Incubation (7-10 days)
2. Catarrhal stage (7-10 days): mild URI symptoms
3. Paroxysmal stage (1-6 weeks): paroxysms of cough with inspiratory whoop that is worse at night and often with post-tussive emesis and exhaustion
- often confused with acute bronchitis
4. Convalescent stage (2-3 weeks): waning symptoms
```
Treatment:
supportive care
antibiotics
-azithromycin (5 days)
shorter course, and erythromycin/clarithromycin contraindicated before 2 months
```
-erythromycin (14 days)
-clarithromycin (7 days)
TMP-SMX (14 days)
prophylaxis for close contacts (full course of one of the above antibiotics)
isolation from school/day care until 5 days of antibiotics have been completed, or 3 weeks after onset of symptoms in untreated patients
hospital admission (with isolation) indications for children with pertussis:
- respiratory distress
- PNA
- inability to feed
- cyanosis or apnea (with or without coughing)
- seizures
81
what additional work-up is needed in a child diagnosed with UTI?
renal and bladder ultrasound (RBUS)
- child 2 febrile UTIs
- child any age with first febrile UTI and family history of urologic disease, poor growth, or HTN
82
Immunodeficiency disorders- overall clues
recurrent infections after 3 mos
83
Thymic aplasia (DiGeorge syndrome)
3rd and 4th pouches fail to develop
-no thymus means no mature T cells
no parathyroids means hypocalcemia, leading to tetany
Recurrent viral, fungal, and protozoal infections
Congenital defects in heart/great vessels
90% have a chromosome 22q11 deletion (detect with FISH)
84
Chronic mucocutaneous candidiasis
T cell dysfunction vs c. albicans
Treatment: antifungals (ketoconazole, fluconazole)
85
Bruton agammaglobulinemia
- X- linked (boys)
- B-cell deficiency- defective tyrosine kinase gene- low levels of all immunoglobulins
- Recurrent bacterial infections after 6 months
- No B cells on peripheral smear
86
Selective IgA deficiency
MC selective immunoglobulin deficiency. IgA is found in mucus to protect the respiratory tract
- most appear healthy
- recurrent sinus infections
- recurrent lung infections
- 1/600 people of European descent
- associated with atopy and asthma
- There isn't much you can do but provide antibiotics when there is an infection. It is important to diagnose this condition, as there is possible anaphylaxis to blood transfusions and blood products.
87
Severe combined immunodeficiency (SCID)
- Defect in early stem cell differentiation
- Can be caused by at least seven different gene defects:
- adenosine deaminase deficiency is the most high- yield one to know
Last defense is NK cells
Presentation triad:
1. Severe recurrent infections
- chronic mucocutaneous candidiasis
- fatal or recurrent RSV, VZV, HZV, measles, flu, parainfluenza
3. pneumocystis jirovecii (PCP) pneumonia
2. chronic diarrhea
3. failure to thrive
Radiology:
no thymic shadow on newborn chest x-ray
Do not give these patients live attenuated vaccines
88
Ataxia- telangiectasis
IgA deficiency and T cell deficiency- sinus and lung infections
Cerebellar ataxia and poor smooth pursuit of moving target with eyes
Talengiectasias on the face (after 5 years old)
Radiation sensitivity (try to avoid x-days)
Increased risk: lymphoma and acute leukemias
+/- elevated AFP (After 8 months of age)
average age of death: 25 years
```
ATAXIA:
Ataxia
Telangiectasia
Acute leukemia/lymphoma
X-ray sensitivity
IgA deficiency
AFP
```
89
Wiskott-Aldrich Syndrome
```
WAITER
Wiskott
Aldrich
Immunodeficiency
Thrombocytopenia and purpura
Eczema
Recurrent pyogenic infections
```
X- linked
90
Chronic granulomatous disease (CGD)
X-linked inheritance (65-70%)
Lack of NADPH oxidase- phagocytes cannot destroy catalase-positive microbes
Especially susceptible to
S. aureus and
aspergillus infections
Diagnosis: negative nitroblue tetrazolium (NBT) test:
-NO yellow to blue-black oxidation (phagocytes don't generate oxygen free- radicals)
Treatment:
- prophylactic TMP-SMX and itraconazole
- IFN-gamma also helpful
91
Chediak- Higashi syndrome
defective LYST gene (lysosomal transport)- can't get enzymes int olysozomes
defective phagocyte lysosomes- giant cytoplasmic granules in PMNs are diagnostic
presentation triad:
- partial albinism
- recurrent respiratory tract and skin infections
- neurologic disorders
92
Hyper IgE syndrome (Job syndrome)
Mutation in the gene for STAT2 signaling protein, leading to
- impaired differentiation of Th17 cells
- impaired recruitment of neutrophils
High levels of IgE and eosinophils
Presentation triad:
- eczema
- recurrent cold S. aureus abscesses (think of biblical Job with boils)- normal inflammation would make it warm
- coarse facial features: broad nose, prominent forehead ("frontal bossing"), deep-set eyes, and "doughy" skin
- common to have retained primary teeth, resulting in 2 rows of teeth
93
Leukocyte adhesion deficiency syndrome
abnormal integrins- inability of phagocytes to exit circulation
recurrent bacterial infections
delayed separation of umbilical cord
94
desquamation of hands and feet
```
scarlet fever
Kawasaki disease
toxic shock syndrome
SJS
acrodynia (2/2 mercury poisoning)
```
95
congenital heart defect+ low calcium+ recurrent infections
DiGeorge syndrome
96
chronic mucocutaneous candidiasis+ chronic diarrhea+ failure to thrive
SCID
97
negative nitroblue tetrazolium test
chronic granulomatous disease
98
poor smooth pursuit of eyes + elevated AFP after 8 months
ataxia telangiectasis
99
partial albinism+ recurrent URIs+ neurological disorders
Chediak-Higashi syndrome
100
best choice for septic shock
NE
101
best choice for cardiogenic shock
dobutamine
102
causes vasoconstriction but with bradycardia
phenylephrine
103
4 most common brain tumors in adults
```
Mets
glioblastoma
meningioma
schwannoma
(MGM studies)
```
104
3 most common brain tumors in children
Astrocytoma
Medulloblastoma
Ependymoma
105
Turner syndrome
```
webbed neck
short stature
infertility
abnormal genital formation
renal defects
cardiac defects- coarctation of aorta
craniofacial abnormalities
45XO karyotype
MCC primary amenorrhea
```
Labs: karyotype
Treatment:
- CV assessment
- Estrogen and progestin replacement
- growth hormone
106
Labs for sex chromosome disorders
karyotype
many end in 1st trimester abortions (MCC 1st trimester abortion)
107
Klinefelter syndrome
```
47,XXY
males with an extra X
testicular atrophy
tall, thin body
gynecomastia
infertility
mild intellectual disability
psychosocial adjustment abnormalities
```
108
47, XYY male
tall body
significant acne
mild intellectual disability (sometimes)
109
47, XXX syndrome
intellectual disability
menstrual abnormalities
80th percentile for height
25th percentile for head circumference
110
Trisomy 21
autosomal nondisjunction
Tri21 is most common
craniofacial abnormalities includinf protruding tongue, flat nose, small ears, vision and hearing loss, broad hands with simian crease, intellectual disability, cervical instability, increased space between first and second toes,
GI abnormalities: duodenal atresia, Hirschprung disease (inital failure to pass meconium), annular pancreas, celiac disease, early Alzheimer (30's), cardiac defects
usually survive into 4th decade of life or possibly longer
associated with ALL
small risk of AML as well
US: increased nuchal translucency
```
Quadruple screen:
decreased AFP
increased beta HCG
decreased estriol
increased inhibin A
```
111
trisomy 18 (Edwards syndrome)
```
severe intellectual disability
micrognathia (small mouth)
limb abnormalities (rocker bottom feet, overlapping fingers)
```
cardiac defects, GI abnormalities, frequently fatal within 1 year of life
112
Trisomy 13 (Parau syndrome)
```
cleft lip and palate
cardiac defects
CNS defects
severe intellectual disability
rounded nose
polydactyly
frequently fatal wihin first year
```
labs: karyotyping
quadruple screen
amniocentesis to confirm diagnosis
113
Deletion syndrome: Cris du chat
low birth weight
failure to thrive
intellectual disability
small head
high-pitched cat-like cry
114
Wolf- Hirschhorn syndrome
intellectual disability
multiple cranial abnormalities
seizures
115
Prader-Willi syndrome
- overeating and obesity
- decreased muscle tone in -infancy
- intellectual disability
- small hands and feet
- obesity- related complications
inherited from the father
116
Angelman syndrome
inherited from the mother
"happy puppet syndrome"
deletion or inactivation of genes on the maternally inherited chromosome 15, while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced
happy mood
intellectual disability
inappropriate laughter
ataxic gait
117
Velocardiofacial syndrome (22q11 deletion)
```
associated with DiGeorge syndrome
Cleft palate
Cardiac defects
Mild intellectual disability
Overbite
Speech disorders
```
T cell deficiency and hypocalcemia
118
Williams syndrome
cheerful
cardiac defects
intellectual disability
119
Fragile X syndrome
X- linked
trinucleotide repeat disorder (CGG) with anticipation in successive generations
occurs earlier and is more severe with each successive generation
```
H and P:
large face with prominent jaw, large ears
mild hand/foot abnormalities
macroorchidism
intellectual disability
hyperactivity
seizures
```
common cause of intellectual disability in men
screening, education, and monitoring needed
120
Congenital malformations- most common
unilateral cleft lip, with or without cleft palate
prevent with folate supplementation
121
Congenital malformations- what features are characteristic of fetal alcohol syndrome?
facial features: short palpebral fissures, thin upper lip, smooth philtrum, flattened midface
deficient brain growth: structural brain abnormalities,
122
Ebstein anomoly (6 key features)
1. tricuspid leaflets displaced inferiorly
2. RV hypoplasia
3. tricuspid regurgication or stenosis
4. 80% have a patent foramen ovale
5. dilated right atrium, leading to increased risk of SVT and WPW
6. physical exam: widely split S2, tricupid regurgitation
123
Branchial cleft cyst versus thyroglossal duct cyst
Branchial cleft cyst:
- lateral neck
- dose not move with swallowing
Thyroglossal duct cyst
- midline neck
- moves with swallowing
- often associated with ectopic thyroid tissue
124
Common presenting features of tuberous sclerosis
distinctive brown, fibrous plaque on the forehead seen in infancy
ash-leaf spots (hypopigmented macules most easily identified by wood's lamp)
Shagreen patch (leathery cutaneous thickening usually on the lower trunk)
facial angiofibromas (adenoma sebaceum)
seizures
intellectual disability
subependymal nodules in the brain
125
lactic acidosis, hyperlipidemia, hyperuricemia (gout)
Type 1 (von Gierke), where liver cells can't undergo gluconeogenesis
126
diaphragm weakness- respiratory failure
Type II (Pompe disease)
127
Increased glycogen in liver, severe fasting hypoglycemia
```
Type 1 (von Gierke disease)
where liver cells can't undergo gluconeogenesis
```
128
Hypatomegaly, hypoglycemia, hyperlipidemia (normal kidneys, lactate, and uric acid)
Type III (Cori disease)
129
Painful muscle cramps, myoglobunuria with strenuous exercise
Type V McArdle disease
130
severe hepatosplenomegaly, enlarged kidneys
```
Type 1 (von Gierke disease)
where liver cells can't undergo gluconeogenesis
```
131
Cleft lip/palate, life expectancy
TRisomy 13 (Patau)
132
high- pitched cat-like cry
cri du chat
133
Elfin facial features, cardiac fects
Williams syndrome
134
Tall, thin man with gynecomastia and testicular atrophy
Kleinfelter syndrome
135
Large ears, intellectual disability, macroorchidism
Fragile X syndrome
136
Obesity and overeating
Prader-Willi syndrome
137
Micrognathia, life expectancy
trisomy 18
138
happy mood, inappropriate laughter, ataxic gait
angelman syndrome
139
intellectual disability, simian crease, GI and cardiac defects
Trisomy 21
140
short stature, infertility, coarctation of aorta
Turner syndrome
141
How to prevent flushing with niacin administration?
pre-treat with aspirin, half an hour ahead,
| extended-release formulation, may improve with time
