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Pediatrics clin med > Hereditary & Congenital > Flashcards

Hereditary & Congenital Flashcards

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1
Q

What are the inborn errors of metabolism

A

PKU

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2
Q

What is PKU

A

Deficiency of phenylalanine hydroxylase (converts phenylalanine to tyrosine)

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3
Q

What is management of PKU

A

avoid intake of phenylalanine – low protein diet

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4
Q

What are endocrine disorders

A

congenital hypothyroidism, congenital adrenal hyperplasia

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5
Q

what can Congenital hypothyroidism cause

A

intellectual disability and poor growth

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6
Q

what can you see with Congenital adrenal hyperplasia

A

Decrease cortisol and mineralocorticoids,
Increase androgens

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7
Q

what are the two forms Congenital adrenal hyperplasia

A

Classic form and Non classic form

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8
Q

what is classic form

A

more severe, usually detected during infancy screening, 2 clinical syndromes — salt losing (low Na, high K, low BP)

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9
Q

what happens in classic form with girls

A

ambiguous genitalia, can have salt wasting ( adrenal crisis)

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10
Q

what happens in classic form with boys

A

salt losing: adrenal crisis within 1-3 weeks of birth, Non salt: early virilization (2-4 years)

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11
Q

what happens in non classic form

A

Milder, presents later childhood through early adulthood

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12
Q

what is the presentation with non classic form

A

precocious puberty, short stature as adults , girls can show hirsutism, menstrual issues, irregularities

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13
Q

how can CAH adrenal crisis show

A

shock/severe hypoT
Failure to thrive
Vomiting, diarrhea, abdominal pain
Low Na, high K
Metabolic acidosis
Low glucose

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14
Q

how do you manage congenital adrenal hyperplasia

A

refer to endocrinology
Corticosteroids replacement
Mineralocorticoids to replace aldosterone
Salt supplements to help retain salt

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15
Q

what is most common neonatal hearing loss

A

sensorineural

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16
Q

what does hearing loss in newborns lead to

A

Leads to delayed language, problems with behavior/social, poor school performance

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17
Q

what is the goal for newborn hearing loss

A

diagnose <3 mo, implement services <6 months

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18
Q

What is trisomy 21

A

Most common chromosomal abnormality in live born children - down syndrome

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19
Q

clinical features head/neck trisomy 21

A

hypotonic, poor moro reflex, flattened facies, flat nasal bridge, epicanthic folds, up sloping palpebral fissures, dysplastic ears, open mouth, protruding tongue, short neck, excess skin at nape of neck, brachycephalic, narrow palate, brushfield spots (on iris)

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20
Q

clinical features eyes/ears trisomy 21

A

refractive errors, strabismus, hearing loss

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21
Q

clinical features extremities trisomy 21

A

short broad hands, transverse palmar crease (simian crease), extra space between 1st and 2nd toe (sandal gap), hyperflexible joints (can have atlantoaxial laxity), dysplasia of middle phalanx of 5th finger, dysplasia of the pelvis

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22
Q

clinical features heart trisomy 21

A

Congenital heart dz (50%) - av septal defects

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23
Q

clinical features GI tract trisomy 21

A

duodenal atresia, imperforate anus, annular pancreas, hirschsprung disease, TE fistula, celiac disease

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24
Q

what is klinefelter syndrome

A

47 XXY (non- disjunction), 1 in 1000 males, most (75%) undiagnosed, usually diagnosed in adolescence or adulthood

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25
what can klinefelter cause
Infertility, hypogonadism
26
how does klinefelter present
tend to be tall, long arms and legs, narrow shoulders , small testes, gynecomastia, osteoporosis in middle age, can have psychosocial impairment, poor attention
27
what is turner syndrome
monosomy X: 45X (50%), partial deletions of X chromosomes, mosaic (some cells are 45XO while other are 46XX)
28
which turner syndrome can survive to birth
monosomy
29
when is turner syndrome diagnosed
⅓ diagnosed at birth, ⅓ diagnosed in childhood (short stature), ⅓ diagnosed in adolescence (fail to enter or complete puberty)
30
how does turner syndrome present
short stature, primary amenorrhea, streak gonads, shield chest (wide inter-nipple distance), ovarian failure, congenital lymphedema of hands and feet, dysmorphic features (webbed neck, nail dysplasia, high palate, short 4th metacarpal, low hairline)
31
what can happen with turner syndrome for cardiac
coarctation of the aorta, bicuspid aortic valve, aortic root dilation (look for difference in pulses/bp)
32
what can happen with turner syndrome for renal/gu
horseshoe kidney
33
what are some associated autoimmune conditions with turners
hypothyroidism, insulin resistance, multiple nevi, cubitus valgus
34
what is fragile X
X linked disorder, diagnosed in 3% of boys with special needs, a spectrum of severity, usually suspected because of developmental delay, intellectual disability or behavioral issues
35
what are clinical features with fragile X
long narrow face with prominent forehead and chin, large ears, testicular enlargement (After 8), macrocephaly, pale blue irises, sunken eyes, joint laxity, mitral valve prolapse, seizure disorder
36
what are cognitive features with fragile X
one of the most common causes of inherited cognitive impairment, moderate intellectual disability, development delay, ADHA, autism spectrum disorders, cognitive skills can decline after early childhood
37
what happens with fragile X in females
more variable in girls, 50% have normal cognitive function, can be a cause of premature ovarian failure
38
what is prader willi syndrome
Due to deletion or inactivity of part of parental chromosome 15
39
how do prader willi syndrome present for neonates
hypotonia (poor suck, failure to thrive), almond shaped eyes, small hands and feet
40
how do prader willi syndrome present for child/adolescents
obesity, hypogonadism (small testes, cryptorchidism), developmental delay, cognitive impairments
41
what is marfans syndrome
Inherited connective tissue disorder, autosomal dominant (90% have mutation of fibrillin gene), spectrum of severity
42
what are cardiac effects of marfans
aortic aneurysms, major cause of morbidity and mortality, mitral valve prolapse leading to regurge, dilation of the root of the aorta (aortic regurg, dissection, rupture)
43
what are msk effects of marfans
long, think, extremities, loose joints, arachnodactyly, pectus excavatum, pectus carinatum, scoliosis, high arched palate, joint hypermobility, pes planus
44
what are eye effects of marfans
dislocations of the lens
45
what is common to happen with marfan pts
spontaneous pneumo
46
what is diagnose for marfans
ghent criteria - seven rules
47
what is ehlers danlos
Collage disorder, hyperelasticity of skin and hypermobile joints
48
what are clinical features of ehlers danlos
skin hyperextensibility, easy bruising, velvety fragile skin, poor wound healing (cig paper scars), joint hypermobility (can lead to dislocations)
49
what can happen sponaneously in ehlers danlos
ruptured of vasculature or viscera
50
what is mang for elhlers danlos
Physical therapy: exercises to strengthen the muscles and stabilize joints - primary tx, specific braces to help prevent joint dislocations, – build bulk Meds: NSAIDs, TCAs and SNRIs (pain), muscle relaxants, magnesium (relieve muscle spasms) Routine follow up
51
how common is neural tube defect
2nd most common congenital anomaly (1st is cardiac)
52
what are the three types of neural tube defect
spina bifida, anencephaly, encephalocele
53
what is spina bifida
cleft in spinal column
54
what are types of spina bifida
occulta, meningocele, myelomenigocele
55
what is Occulta
skin intact, dorsal portion of vertebrae not fused, sacral tuft of hair
56
what is meningocele
meninges herniate
57
what is Myelomenigocele
meninges and spinal cord herniate, associated with hydrocephalus and neuro deficit
58
what is anencephaly
congenital absence of a major portion of brain and skull
59
what is encephalocele
sac-like protrusion of brain and membrane thru skull opening
60
what are risk factor for fetal alcohol syndrome
older maternal age, binge drinking, african american or native american
61
what are facial features of fetal alcohol
short palpebral fissures, thin vermillion border, smooth philtrum
62
what are growth issues for fetal alcohol
poor prenatal and postnatal growth
63
what are neurological features for fetal alc
intellectual disability, learning disability, developmental delay, behavioral difficulty, hyperactivity
64
what are environmental factors for cleft palate
meds (seizure meds, MTX), smoking, alcohol, folate deficiency Can be assocaited with other structural abnormalities, ass with several genetic syndromes
65
what is digeorge syndrome
22q11.2 deletion syndrome ,
66
what are clinical findings of digeorge syndrome
congenital heart disease: interrupted aortic arch, truncus arteriosus, tetralogy of fallot thymic hypoplasia: immune deficiency hypocalcemia: from parathyroid hypoplasia

Pediatrics clin med (7 decks)

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