BRS #2 Flashcards
apgar score variables (5)- 0, 1, 2
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
assess apgar score at _____ and _____ minutes
if low, resuscitate and continue assessing every 5 minutes until score of 7 or more is reach
1 and 5 minutes
vernix caseosa
thick white creamy material found in term infants
acrocyanosis
cyanosis of hands and feet- common in first 48-72 hours and in some infants the first month of life
cutis marmorata
mottling of the skin with venous prominence
jaundice is ALWAYS abnormal if detected within the first 24 hours of birth (T/F)
T
milia
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
mongolian spots
dark blue hyper pigmented macules over lumbosacral area
-no pathologic significance
pustular melanosis
benign transient rash
small dry superficial vesicles over a dark macular base
erythema toxic neonatorum
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
nevus simplex (salmon patch)
most common vascular lesion of infantry
“stork bite”
nevus flammeus (port wine stain)
congenital vascular malformation
-if in V1 distribution, could be assoc with intracranial or spinal vascular malformations seizures, intracranial calcifications (Sturge Weber)
strawberry hemangioma
benign proliferative vascular tumor
increase in size after birth and resolve within 18-24 months
neonatal acne
not present at birth, appears after 1-2 weeks, no tx needed
microcaphly is head circumference below _____ percentile
10th
diffuse swelling of soft tissues of scalp that crosses cranial sutures and the midline
caput succedaneum
subperiosteal hemorrhages confined and limited by cranial sutures- usually parietal or occipital bones
cephalohematomas
soft areas of skull with a ping pong ball feel
craniotabes
-no intervention needed
4 causes of abnormal red reflex in neonate
cataracts
glaucoma
retinoblastoma
severe chorioretinitis
in neonates, look for this nose abnormality
choanal atresia
micrognathia
cleft palate
glossoptosis
obstruction of upper airway
pierre robin syndrome
macroglossia, hemi-hypertrophy, visceromegaly
beckwith-wiedemann syndrome
macroglossia can also be assoc with ___ and ______
hypothyroidism
mucopolysaccharidosis
epstein pearls
small white epidermoid mucoid cysts found on hard palate that will disappear within a few weeks
lateral neck masses
branchial cleft cycsts
cystic hygromas
midline neck mass
thyroglossal duct cyst
goiter
2 causes of neonatal torticollis
being in fixed position in utero
postnatal hematoma from birth injury
edema and webbing of neck suggest ______
turner syndrome
chest asymmetry due to absence of formation of ribs or a genesis of pec muscle
poland syndrome
prominent vs. depressed sternum
pectus carinatum vs. excavatum
tachypnea in a neonate is RR > _____
60
preterm infants can breathe irregularly, known as _______
periodic breathing
- short apenic bursts that last less than 5-10 sec
- no clinical significance
normal HR in neonate
95-180
diminished femoral pulses
increased femoral pulses
diminished- coarctation of aorta
increased- PDA
check the umbilical cord for ___________
2 arteries and 1 vein
-abnormalities may indicate congenital renal anomalies
diastasis recti
separation of left and right side of rectus abdominis
-don’t worry about it, it’ll grow fine
how to manage umbilical hernias
most close spontaneously
pressing on the bladder makes urine come out of the umbilicus
persistent urachus
-fistula between bladder and umbilicus
meconium plug
obstruction of left colon and rectum
meconium ileus
what can it indicate?
occlusion of distal ileum
it may indicate cystic fibrosis
most normal meconium is passed in the first ____ hours
24 hours
MC abdominal mass in a newborn
hydronephrosis
hypertrophied clitoris may be due to _____ excess associated with _________
androgen excess
virilizing adrenal hyperplasia
hydrometrocolpos
imperforate hymen with retention of vaginal secretions
-small cyst between labia at birth or lower abdominal mass later on
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
epispadias
urethral meatus on the dorsal surface of penis
what is epispadias often assoc with?
bladder extrophy (bladder protrusion from the abdominal wall)
prognosis of cryptorchidism
most descend by age 12 months
if not, higher risk for malignancy
hypoplasia or absence of the radius may be assoc with these 3 things
- TAR syndrome (thrombocytopenia absent radii)
- Fanconi anemia
- Holt-Oram syndrome
edema of the feet with hypo plastic nails indicate ______ and ______
Turner
Noonan
rocker bottom feet
trisomy 18
hernia protrusion of cord and its meninges
myelomeningocele
definition of preterm
less than 37 completed weeks
definition of post term
more than 42 weeks
small for gestational age
infants born weighing below 5th percentile for corresponding gestational age due to intrauterine growth retardation
large for gestational age
infants born weighing over 90th percentile for their gestational age at birth
*different from high birth weight which is > 4000grams
causes of LGA (large for gestational age)
maternal diabetes
beckwith-wiedemann syndrome
prader-willi syndrome
nesidioblastosis (diffuse prolix of pancreatic islet cells)
LGA infants are at high risk for _____ and ______
hypoglycemia and polycythemia
how many types of IUGR?
3
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)
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
type III IUGR
late intrauterine malnutrition after 32 weeks
- placental infarct or fibrosis
- maternal malnutrition
- pregnancy induced HTN
- maternal hypoxemia (lung dz, smoking)
cyanosis can be normal in neonates (T/F)
F
cyanosis is always an emergency in neonates!!!!
5 Ts of cyanotic congenital heart disease
tetralogy of fallot TGA truncus arteriosus tricuspid atresia total anomalous pulmonary venous connection
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
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
respiratory distress syndrome (RDS) is caused by lack of ______
surfactant
sufficient quantity of surfactant is produced only after ______ gestation
30-32 weeks
how to assess fetal lung maturity
amniocentesis
if mature, L:S ratio will be greater than 2:1 and phosphatidylglycerol will be present
RDS is the MCC respiratory distress in preterm infants (T/F)
T
highest demographic risk for RDS
white males
how to dx RDS
CXR: diffuse atelectasis with increased density in both lungs and fine, granular, ground-glass appearance, and air bronchograms
how to tx RDS
supplemental O2
CPAP +/- ventilation
exogenous surfactant
acute complications of RDS
air leaks
intraventricular hemorrhage
sepsis
right to left shunt across PDA
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
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
two MCC of persistent pulmonary HTN of newborn
perinatal asphyxia
meconium aspiration syndrome
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
how to manage PPHN
oxygen
+/- mechanical ventilation
+/- ECMO
inhaled nitric oxide may be a good pulmonary vasodilator
______ is often passed as a consequence of distress (ex. hypoxemia) in the fetus at term and becomes more frequent after 42 weeks gestation
meconium
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
how to manage MAS
- prevention is key via suctioning
- O2 +/- mechanical ventilation and ECMO
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
most common type of apnea of prematurity
mixed apnea (central and apnea secondary to airway obstruction)
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
most common type of jaundice in the neonate
indirect hyperbilirubinemia that is physiologic
visible juandice in the neonate occurs when bill is > _____
5 mg/dL
physiologic jaundice is _____ hyperbili
2 causes of this
indirect/unconjugated
causes: increased bilirubin load, delayed activity of hepatic enzyme glucuronyl transferase
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
indirect vs. direct hyperbilirubinemia definitions
indirect: direct is < 15% of total
direct: direct is > 15% of total** this one is always pathologic in neonates
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
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
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)
how to evaluate indirect hyperbilirubinemia
CBC
retics
smear
sepsis
how to evaluate direct hyperbilirubinemia
hepatic US to look for choledochal cyst
serologies for viral hepatitis
radioisotope scans of the hepatobiliary tree
sepsis
two inherited causes of indirect hyperbilirubinemia
crigler-najjar syndrome
gilbert’s disease
how to manage physiologic jaundice
serial bili assessments
observation
reassurance
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
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
neonate is jittiriness, hyperreflexia, irritability, tremulousness, feeding intolerance, excessive wakefulness
signs of neonate in withdrawal
esophageal atresia is often assoc with ________
polyhydramnios
most common type of esophageal atresia
esophageal atresia with a distal tracheoesophageal fistula
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
congenital diaphragmatic hernia most often occurs on the ____ side
left
how to dx congenital diaphragmatic hernia
fetal ultrasound
clinical features of congenital diaphragmatic hernia
scaphoid abdomen (abdominal contents in the thorax) respiratory insufficiency from pulmonary hypoplasia CXR can have characteristic findings
how to manage congenital diaphragmatic hernia
DO NOT bag and mask ventilate
intubate and mechanical ventilation
surgical repair once infant is stable
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
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
MCC obstruction in the neonatal period
intestinal atresia
soap bubble appearance
minimal air fluid levels
meconium ileus
meconium ileus is a manifestation of ________
cystic fibrosis
-abnormal accumulation of intestinal secretions of deficiency of pancreatic enzymes –> more viscous
clinical signs of meconium ileus
abdominal distension
lack of meconium passage
vomiting
how to tx meconium ileus
enemas to relieve the obstruction
intestinal malrotation may be caused by ______
volvulus
lack of caudal migration of ganglion cells from the neural crest
hirschsprung disease
most hirschsprung pts are _____ (male/female) and most have family history
male
how to dx hirschsprung
rectal biopsy shows lack of ganglion cells
how to tx hirschsprung
resection of affected segment or colostomy
abdominal distention, air fluid levels, thickened bowel walls, pneumastosis intestinalis (air in the bowel wall), venous portal gas
necrotizing enterocolitis (NEC)
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
hypoglycemia is glucose < _____
40
conditions that result in insulin excess and therefore hypoglycemia in neonates
infants of diabetic mothers
nesidioblastosis (insulin producing tumors or islet cell hyperplasia)
how to tx hypoglycemia in neonate
increase oral feeding
if needed, IV glucose
infants of diabetic mothers (IDMs) are large because of ____ and ______
increased body fat
visceromegaly (liver, adrenals, heart)
in IDMs, skeletal length is increased in proportion to weight but head and face appear disproportionately small
yep
IDMs are typically LGA but can be SGA as well
yep
due to severe diabetes induced vascular complications
IDMs can get this exclusive GI problem
small left colon syndrome
-meconium fails to pass through
polycythemia is central venous hematocrit > ______
65%
causes of polycythemia in neonates
- placental insufficiency
- hypoxemia
- delayed cord clamping
polycythemia can increase risk of NEC
yep
how to tx polycythemia
partial exchange transfusion
-take out blood and replace with normal saline
bilirubin encephalopathy is only caused by _____ bilirubin
indirect
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
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
intrinsically abnormal process forms abnormal tissue (ex. bladder extrophy)
malformation
mechanical forces exerted on normal tissue result in abnormal tissue
deformation
normal tissue becomes abnormal after being subjected to destructive forces
disruption
elevated AFP can indicate
neural tube defects multiple gestation pregnancies underestimated gestational age ventral abd wall defects fetal demise edema or skin defects
low AFP can indicate
overestimated gestational age
trisomies 21 and 18
IUGR
low AFP, low unconjugated estriol, high beta-HCG
Down syndrome
low AFP, low unconjugated estriol, low beta-HCG
trisomy 18
chorionic villus sampling occurs during weeks _____
10-13 wks
amniocentesis occurs during weeks _______
16-18
marfan is an autosomal _______ connective tissue disease that mainly involves these 3 organ systems
dominant
ocular, cardiovascular, skeletal
gene and chromosome in Marfan
fibrillin gene on chromosome 15
tall stature with elongated extremities and long fingers joint laxity chest wall deformities scoliosis or kyphosis decreased upper-to-tower segment ratio
marfan
ocular findings in marfan
upward lens subluxation and retinal detachment
cardiovascular findings in marfan
aortic root dilatation, MVP, aortic regurg
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
marfan prophylactic stuff
endocarditis ppx
regular ophtho exams
almond shaped eyes, fishlike mouth, short stature with small hands and feet
prader willi
growth issues in prader willi
FTT due to feeding problems in year 1
obesity later in childhood and adulthood due to hyperphagia
neuro and sexual effects of prader willi
hypotonia as newborn
mental retardation, learning disabilities, behavioral issues
hypogonadism or cryptorchidism
“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
- 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
what chromosome is noonan syndrome on?
chromosome 12
cardiac defect with noonan
right sided heart lesions like pulmonary valve stenosis
*compare to Turner syndrome which has left sided heart lesions
noonan intelligence
25% have mental retardation
-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
-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
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
- blue sclera
- yellow or gray-blue teeth
- fragile bones resulting in frequent fractures
osteogenesis imperfecta (OI)
complications of osteogenesis imperfecta
early conductive hearing loss
skeletal deformities as a result of fractures
what is abnormal in osteogensis imperfecta
abnormal type I collagen
VACTERL
vertebral defects anal atresia cardiac anomalies mainly VSD tracheoesophageal fistula renal and genital defects limb defects
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)
"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
- 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
- SGA
- short stature and skeletal asymmetry with normal head circumference
- small triangular face
- cafe au lair spots
- excessive sweating
Russell Silver syndrome
- 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
cri du chat syndrome
- characteristic cat like cry
- which chromosome?
partial deletion of the short arm of chromosome 5
most common trisomy syndrome
trisomy 21 (Down syndrome)
- 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
complications of down syndrome
antlantoaxial cervical spine instability leukemia celiac disease early AD OSA conductive hearing loss hypothyroidism cataracts, glaucoma, refractive errors
______ is the second most common trisomy syndrome and is more common in ________ (males/females)
trisomy 18
females
scissoring of lower extremities
delicate small facial features
clenched hands with overlapping digits
rocker bottom feet
trisomy 18
most trisomy 18 patients live until their teenage years (T/F)
F
most die within first year
- midline defects of face and forebrain
- holoprosencephaly
- microphthalmia, rarely a single eye
- cleft lip and palate
trisomy 13
prognosis for trisomy 13
poor
most die in first month
- short stature
- webbed neck
- shield chest
- swelling of dorsum of hands and feet
- delayed puberty 2/2 ovarian dysgenesis
turner syndrome (XO)
consider _______ in any case of delayed puberty
turner syndrome
common cardiac issues in turner
left sided heart lesions, esp coarctation of aorta
-bicuspid aortic valve and hypoplastic left heart as well
MR, large ears, large testes, behavioral problems
fragile X
which repeat is in fragile X
CGG repeats
most common inherited cause of mental retardation
fragile X
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
skeletal dysplasia
short stature caused by bone growth abnormalities
rhizomelia
proximal long bone abnormalities (ex. humerus and femur)
mesomelia
medial long bone abnormalities (ex. ulna and tibia)
acromelia
distal bone abnormalities (ex. small hands and feet)
abnormalities of the spine
spondylodysplasias
rhizomelia disorder… most common skeletal dysplasia
achondroplasia
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
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
severe oligohydramnios (decreased amniotic fluid) can cause \_\_\_\_\_\_\_\_\_ describe it
potter syndrome
-lung hypoplasia and fetal compression
severe oligohydramnios can be caused by _______ or _______
chronic amniotic fluid leak
intrauterine renal failure
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)
most common congenital anomalies of the CNS
neural tube defects
teratogen: microcephaly, short palpebral fissures, long smooth philtrum, variable MR
alcohol
teratogen: SGA, polycythemia
cigarettes
teratogen: IUGR, microcephaly, GU tract issues
cocaine
teratogen: increased risk of cervical carcinoma, GU anomalies
DES
teratogen: CNS malformations, microtia, cardiac defects, thymic hypoplasia
isotretinoin
teratogen: wide anterior fontanelle, thick hair with low hairline, small nails, cardiac defects
phenytoin
teratogen: hypothyroidism, goiter
PTU
teratogen: phocomelia (malformed extremities resulting in flipperlike appendanges)
thalidomide
teratogen: narrow head, high forehead, mid face hypoplasia, spin bifid a, cardiac defects, convex nails
valproic acid
teratogen: hypoplastic nose with a deep groove between nasal ale and the nasal tip, stippling of the pipyses, hypo plastic nails
warfarin
in terms of IEMs, chronic and progressive sxs are typical of __________
mitochondrial diseases
when you suspect an IEM, always check for ____ first
sepsis!
initial labs to check when you suspect IEM
metabolic acidosis
elevated serum ammonia
how to manage IEM
- source of energy… usually IV glucose
- avoid offending substance
- 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)
IEM: mousey/musty smell
PKU
IEM: sweet maple syrup smell
maple syrup urine disease
IEM: sweaty feet smell
isovaleric or glutaric acidemia
IEM: rotten cabbage smell
hereditary tyrosinemia
hypoglycemia with ketosis is suggestive of ___ and _____
organic acidemias and carbohydrate disease
serum NH3 > 200 is suggestive of ________
urea cycle defects
elevated NH3 and metabolic acidosis are suggestive of _______
organic acidemias
urinary ketones are normal in a neonate (T/F)
F
they’re always abnormal
in older children, absence of ketones with hypoglycemia is suspicious for ________
fatty acid oxidation defect
in the urine, nonglucose-reducing substance is suggestive of _______
galactosemia
if metabolic acidosis is present, get these labs
serum lactate and pyruvate
plasma amino acids
if increased ammonia is present, get these labs
plasma amino acids –> aminoacidemias
urine organic acids –> elevated orotic acid leads to OTC deficiency
IEM with marfanoid body habits w/o arachnodactyly
homocystinuria
homocystinuria is caused by _________ deficiency
it is autosomal ______
cystathionine synthase
recessive
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
how to dx homocystinuria
- increased methionine in urine and plasma
- positive urinary cyanide nitroprusside test
how to manage homocytinuria
methionine restricted diet
ASA
folic acid
bitamin B6
this can occur in premature infants who receive high protein diets
transient tyrosinemia of the newborn
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
IEM that causes renal stones
which molecules are affected?
cystinuria- autosomal recessive
defect in renal reabsorption of cystine, lysine, arginine, ornithine (CLAO)
maybe asymptomatic but also maybe intermittent ataxia, photosensitive rash, MR, and emotional lability
Hartnup disease- autosomal recessive
defect in transport of neutral amino acids
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
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
how to dx OTC deficiency
elevated urine orotic acid
decreased serum citrulline
increased ornithine
liver bx
how to manage OTC deficiency
low protein diet
manage the hyperammonemia
-prognosis depends on episodes of hyperammonemia and neurologic sequelae
PKU inheritance
AR
developmental delay infantile hypotonia mousy or musty odor progressive MR eczema light eyes and hair
PKU
how to dx PKU
increased phenylalanine:tyrosine ratio in serum
how to manage PKU
phenylalanine restricted diet
*if you do this before 1 month, IQ will be near normal
progressive vomiting and poor feeding lethargy, hypotonia, coma developmental delay hypoglycemia and severe acidosis during episodes urine smells sweet
maple syrup urine disease
inherence of maple syrup urine disease
AR
how to dx maple syrup urine disease
increased serum and urine branched chain amino acids
how to tx maple syrup urine disease
dietary protein restriction
*if restrict in first 2 weeks of life, may avert neuro damage
episodes of peripheral neuropathy
chronic liver dz
odor of rotten fish or cabbage
renal tubular dysfunction
tyrosinemia type I
inheritance of tyrosinemia type I
AR
how to dx tyrosinemia type I
succinylacetone in urine
how to tx tyrosinemia type I
dietary restriction of phenylalanine, tyrosine, NTBC
liver transplant
tyrosinemia type I prognosis
death by year 1 if disease begins in infancy
increased risk of HCC and cirrhosis
newborn with hypoglycemia and hepatomegaly… suspect this
galactosemia
AR disorder caused by galactose-1-phosphate uridyltransferase deficiency
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
how to dx galactosemia
nonglucose-reducing substance in urine via clinitest
confirmation of enzyme deficiency in RBCs
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
hypoglycemia, vomiting, diarrhea, FTT, seizures after fruit/fruit juice
herediatry fructose intolerance
–> avoid fructose, sucrose, and sorbitol
IEM with organomegaly and metabolic acidosis
glycogen storage diseases
glucose-6-phosphatase deficiency
-persistent hypoglycemia, hepatomegaly, metabolic acidosis, hypertriglyceridemia, enlarged kidneys
glycogen storage disease type 1 (von gierke’s disease)- AR
how to tx GSD type 1
frequency feeding with complex carbs
GSD type 1 pts at high risk for _______
HCC
alpha-glucosidase deficiency
-flaccid weakness, progressive cardiomegaly, poor feeding, hepatomegaly, and acidosis in first 2 weeks
glycogen storage disease type 2 (pomp’s disease)
nonketotic hypoglycemia, hyperammonemia, myopathy, cardiomyopathy
FAO defects
which is the most common FAO defect
medium chain acyl coA dehydrogenase deficiency
how to manage FAO defects
frequent feedings with high carb, low fat diet
can give carnitine supplementation during acute episodes
ophthalmoplegia, pigmentary degeneration of the retina, hearing loss, heart block, neurologic degeneration
Kearns-Sayre syndrome (mitochondrial disease)
mitochondrial encephalopathy, lactic acidosis, strokelike episodes
MELAS (mitochondrial disease)
how to dx mitochondrial dz
tissue biopsy
decreasing eye contact, hypotonia, mild motor weakness, increased startle due to hyperacusis
- macrocephaly
- cherry red macula
- severe developmental delay
infantile onset Tay Sachs
ataxia, dysarthria, choreoathetosis, no cherry red macula after 2 years of age
juvenile or adult-onset Tay Sachs
which enzyme is deficient in Tay Sachs
hexosaminidase A
AR inheritance
prognosis of Tay Sachs
infantile- no tx… death by age 4
juvenile/adult- poor prognosis, continued degeneration
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
tx and prognosis of gaucher’s
if sxs start in infancy, mortality by age 4
can tx with enzyme replacement therapy
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
ataxia, seizures, progressive MR
death by age 10-20 years
metachromatic leukodystrophy
-arylsulfatase A deficiency
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
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
how to dx hurler syndrome
dermatan and heparan sulfates in urine
decreased alpha-L-iduronidase enzyme activity in leukocytes or fibroblasts
how to manage hurler and what’s the prognosis
tx with early BMT
death by age 10-15 years
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
rapid and severe mental and motor retardation- a mucopolysaccharidosis
sanfilippo syndrome
mucopolysaccharidosis that does not have mental retardation
-instead, severe scoliosis leading to cor pulmonale results in death by age 40
morquio syndrome
episodes of personality changes/emotional lability/paresthesias/weakness, colicky abdominal pain, tachycardia/HTN/sweating/fever, and dark burgundy-colored urine
porphyrias- elevated serum porphyrins
what can precipitate AIP episodes
drugs- alcohol, sulfa drugs, OCPs
hormonal surges- pregnancy, menses
poor nutrition
how to dx porphyria
increased serum and urine porphobilinogen
how to manage porphyria
IV glucose
correct electrolytes
avoid fasting and precipitating drugs
defect in copper excretion
- kayser fleischer rings
- behavior changes, dystonia, dysarthria, tremors, ataxia, seizures
- hepatic dysfunction
Wilson’s disease (hepatolenticular degeneration)
AR disorder
how to dx wilson’s disease
low serum ceruloplasmin- screening test
elevated serum and urine copper
how to tx wilson’s disease
avoid copper-containing foods (ex. nuts, liver, shellfish, chocolate)
chelation with oral penicillamine and zinc salts
+/- liver transplant
abnormal copper transport causes low serum copper
-myoclonic seizures, pale kinky friable hair, optic nerve atrophy, severe, MR, early death
menkes kinky-hair disease
joints in marfan vs homocystinuria
joint laxity in marfan
large stiff joints in homocystinuria
