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Genetics Flashcards

1
Q

What is the most comom major congenital malformation in the US

A

neural tube defects

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2
Q

Where are most port wine stains nevus flammeus), located?

A

85% are unilateral and msot are present on the head and neck

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3
Q

What are the major criteria for the diagnosis of CHARGE to be considered?

A

coloboma, atresia of the choanea, cranial nerve dysfunction, and characteristic ear anomalies (hypoplastic lobule, prominent antihelix, triangular cocncha)

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4
Q

What is the most common autosomal trisomy found in live newborns?

A

T21

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5
Q

What tests need to be done on an infant with T21 before being discharged from the hospital?

A

CBC.to assess for leukomaoif reaction or transient myeloproliferative disorder; thyroid function tests to eval for hypothyroid, hearing screen, red reflex to assess for cataract formation; GI contrast studies in infants with bilious emesis to rule out duodenal atresia

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6
Q

Give example of microdeletion syndromes

A

DiGeorge, PWS

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7
Q

Give example of missense mutation

A

Sickle cell anemia (new nucleotide changes the codon and the amino acid profile is changed; in SS, replacement of A by T at the 17th necleotide of the gene for the beta hemoglobin chain change the codon GAG (glutamic acid) to GTG (valine)

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8
Q

Give example of nonsense mutation

A

CF; new nucleotide changed the codon to a stop codon which stops the translation of messenger RNA; the earlier this happens the more dysfunctional the protein

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9
Q

This is a type of translocation where the the long arms of 2 different chromosomes fuse at the centromere and the very small short arms are lost; only involves chromosomes 13,14,15,21, and 22

A

Robertsonian translocation; normal phenotype; most common type is between chromosome 21 and 14 which is responsible for 3-5% of T21

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10
Q

What is the most common single gene disorder in the Caucasian population?

A

Cystic fibrosis

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11
Q

List examples of single gene disorders that are autosomal recessive

A

Cystic fibrosis, majority of inborn errors of metabolism; alpha and beta thalassemia, sickle cell disease, 21 hydroxylase defiency, congenital muscular dystrophy

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12
Q

Lis the 9 syndromes that result from imprinting

A

PWS, Angelman, Beckwith-Weideman, Russell-Silver, maternal hypomyelination syndromes, maternal and paternal uniparental disomy of chromosome 14, pseudohypoparathyroidism type 1b, transietn neonatal diabetes

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13
Q

What are two examples if single gene disorders with autosomal dominant inheritanace?

A

spherocytosis, Waarderburg syndrome (these disorders are commonly recognzed as disorders with this inheritance)

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14
Q

What are some examples of single gene disorders with x-linked recessive inheritance ?

A

glucose-6-phosphate dehydrogenase deficiency, Wiskott-Aldrich syndrome, hemophilia A and B (these are commonly recognized disorders with this type of inheritance)

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15
Q

Female infant born at 36 weeks for fetal intolerance to labor and maternal exhaustion. IOL for IUGR. Decreased fetal movement during pregnancy. On exam, infatn holds the BUE and BLE in flexion. Complete extension of the elbows, hips, and knees is impossible. Normal DTR. Infant has a weak cry and cannot lift his head with horizonal suspension. Post-natally, you notice mother with few facial expressions, drooping eyelids, and difficulty releasing your hand after a handshake. What is the pathogenesis for arthrogryposis in the neonate?

A

congenital myotonic dystrophy secondary to a trinucleotide expansion (CTG repeat) resulting in altered RNA binding proteins; this disease has autosomal dominant inheritance

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16
Q

What are some disorders a/w advanced paternal age?

A

achondroplasia, Apert syndrome, Marfan syndrome, Treacher Collins syndrome, osteogenesis imperfecta, Waardenburg syndrome

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17
Q

One or more fingers is permanently bent (Camptodactyly); thick lips, deep set eyes, prominent cupped ears,

A

trisomy 8; most that survive are mosaic since comlete trisomy 8 is lethal

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18
Q

cleft lif and palate, midline abnormalities, cutis aplasia, narrow convext fingernails, holoprosencephaly, seizures with hypsarrhythmia, persistent of fetal hemoglobin; triple screen not helpful

A

trisomy 13, extra chromosome from maternal origin, 95% of trisomy 13 conceptons lead to spontaneous abortions;

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19
Q

females> males; VSD, PDA, clenched hands, overlapping of 2nd finger over 3rd or 5th finger over 4th; rocker bottom feet, small mouth / micrognathia (may be a/w Peirre Robin), short sternum; triple screen with low beta-hCG, low estriol, low AFP,

A

trisomy 18; > 95% with complete trisomy 18, with extra copy of maternal origin in ~90%

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20
Q

1 in 800 live births; 5th finger with hypoplastic middle phalynx, 5th finger clinodactyly, hyperflexicle joints, upslanting palpebral fissures, flat facies, Brushfield spots (speckled iris), epicanthal folds, infertility in both males and females, hypotonia

A

T21; 94% with complete trisomy, ~3-5% with Robertsonian translocation, 2% mosaicism; increased risk in older females due to increased risk of non-dusjunction with age

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21
Q

What are some increased risks in patients ith T21

A

increased risk of immunolgic dysfunction, leukemia (15-20x compared to general pop), Alzheimer’s

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22
Q

hyertelorism, downward slant of palpebral fissures, severe mental deficiency, cat-like cry, 2/2 abnormal laryngeal development, FTT microcephaly, hypotonia, VSD, PDA, TOF

A

Cru di chat; partial deleiton of the short arm of 5th chromosome (deleted portion is of paternal origin in 80% of de novo events) majority are de novo

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23
Q

thumb hypoplasia, colobomas, increased risk of retinoblastoma, microcephaly, high nasal bridge, 5th finger clinodatyly

A

deletion 13q

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24
Q

puppet- like gait, blonde hair color, decreased iris pigment, wide spaced teeth, large mouth, seizures

A

Angelman sydrome; 70% result fro 15q11-13 deletion, <5% uniparental disomy, 20-30% occur because of point mutations or other abnormality of maternal 15 q 11-13 region; deleted piece is always of maternal origin

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25
Q

most common chrosomsal deletion in humans

A

Digeorge; occur in 1 in 4000; autosomal dominant with variable expession

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26
Q

secondary to defect in 4th brachial arch and derivatives of 3rd and 4th pharyngeal pouches; aortic arch abnormalities; hypoplastic to aplastic thymus, hypocalcemia, deficient celluar immunity, developmental delay, cleft palate

A

DiGeorge,, majority with 22q11.2 deletion

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27
Q

small hands and feet, undescended testes, FTT initially but then obesity, breech presentation at delivery, almond shaped palpbral fissures

A

PWS, ~70% with deletion of 15 q 11-13, ~25% result from maternal uniparental disomy, ~5% result from methylation at several loci within 15 q 11-13; deleted piece is always of paternal origin

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28
Q

broad thumbs, downward slanting palpebral fissures, prominent and/or beaked nose, hypoplastic maxilla, broad toes, hirsuitism, 25% with cardiac anomalies (PDA, VSD, ASD); due to deletion of 16p13.3 which encodes for cAMP-regulated enhancer-binding protein (CREB)

A

Rubenstein-Taybi syndrome; majority are sporadic

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29
Q

Wilms tumor, aniridia, GU abnormalities, moderate to severe mental deficiency, congenital cataracts,

A

WAGR syndrome, due to 11p13 deletion, usually de novo

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30
Q

supravalvular aortic stenosis> peripheral pulmonic stenosis, hypoplastic nails, prominent lips, hoarse voice, stellate iris pattern, mental deficiency

A

Williams syndrome, 11q13 deletion leading to deletuon of elastin gene, majority sporadic

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31
Q

diandric triploidy (69, XYY) is a/w with what 3rd trimester US finding?

A

placentomegaly with the placenta resembling a a hydadidiform mole; fetuses have mild growth restriction and noro-microcephaly

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32
Q

Digynic triploidy (69 XXY( is associated with what findings prenatally

A

small placenta, severe growth restriction, relative macrocephaly

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33
Q

trident hands (Separation between middle and ring fingers), short limbs, depressed nasal bridge, megalocephaly, caudal narrowing of the spinal cord, normal intelligence; autosomal dominant, 80-90% result from new mutations, increased risk with paternal age

A

achondroplasia; secondary to a mutation in the transmembrane domain of the FGF receptor 3 gene (at 4p16.3 locus)

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34
Q

hypertelorism, midfacial hypoplasia, broad distal phalanx of thumb and big toe, syndactyly, irregular craniosynostosis; autosomal dominant, majority sporadic,

A

Apert Syndrome= acrocephalosyndactyly, due to mutation in the the FGF receptor 2 gene

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35
Q

maxillary hypoplasia, shallow orbits, premature craniosynostosis (especially coronal, lambdoid, sagittal sutures), mental deficiency less common, autosomal dominant with variable expression

A

Crouzon syndrome (craniofacial dyostsis, due to diferent mutation I the FGF2 receptor gene than Apert’s syndrme

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36
Q

polyhyramnios, large tongue, linear earlobe fissures, macrosomia, organ hypoplasia, fetal adrenocortical cytomegaly, intra-abdominal malignancies (Wilms tumor and hepatoblastoma), hypoglycemia

A

Beckwith-Wiedemann syndrome; autosomal dominant with variable expression and incomplete penetrance with gene located at 11p15.5

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37
Q

ASD (most common, but can have VSD or Coractation), upper limb defects; absent, hypoplastic or abnormally shaped shaped thumbs, narrow shoulders, decrease rangeo of motion of upper extremities

A

Holt-Oram, Autosomal dominant with varible expression, some cases a/w 12q2 locus

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38
Q

dilated aorta, arachnodactyly, hyperextensibility, scoliosis, lens subluxation (usually upward),

A

Marfan syndrome, autosomal dominant with varianle expression

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39
Q

ASD (most common, but can have VSD or Coractation), upper limb defects; absent, hypoplastic or abnormally shaped shaped thumbs, narrow shoulders, decrease rangeo of motion of upper extremities

A

Neonatal Marfan’s syndrome, results from diferent mutation in fibrillin gene from Marfan’s syndrome that presents later in life

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40
Q

What is the treatment for Marfan’s?

A

beta blocker to prevent aortic dilatation

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41
Q

dysplastic pulmonary valve, webbed neck, cryptorchidishm, short stature abnormalities in the coagulation pathway,

A

Noonan syndrome, autosomal dominant with wide varianble expression, abnormalities mapped to the 12q22 region

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42
Q

defect in type 1 collagen (COLA1 gene), blue sclera, increased risk of fractures (8% noted at birth, 25% noted in first year of life), easy bruisability, deafnes, postnatal growth deficiency, abnormal dentition, wormian bones in cranial sutures

A

osteogenesis imperfecta (type 1); autosomal dominant

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43
Q

blue sclera, increased risk of fractures, short and broad long bones, patients are usually still born or die early in infancy 2/2 resp failure,

A

osteogenesis imperfecta (type 2); defect in type 1 collagen (COLA1 gene), autosomal dominant

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44
Q

blue sclera in infancy that normalizes as an adult, increased risk of fractures (usually present at birth), IUGR, macrocephaly, abnorml dentition, deafness, kyphoscoliosis, short stature

A

osteogenesis imperfecta type 3; defect in type 1 collagen (COLA1 gene), autosomal dominant

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45
Q

normal sclera, increased risk of bone deformities, may have abnormal dentition

A

osteogenesis imperfecta type 4; defect in type 1 collagen (COLA1 gene), autosomal dominant

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46
Q

aka hereditary arthro-opthalmopathy, flat facies, myopia, spondyloepiphyseal dysplasia (flat vertebrae with anterior wedging, poorly developed distl tibial epiphyses, flat femoral epiphyses, mitral valve prolapse, can be a/w Pierre Robin sequence

A

Stickler syndromel autosomal dominant , 2/2 mutation in the COL2A gene (type 2 collagen gene), located at 12q13.1-q13.2 locus

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47
Q

large cranium, short limbs, low nasal bridge, flat vertebral bodies, curved long bones

A

type 1, thanatophoric dysplasia, more common, autosomal dominant, 2/2 new mutation in the tyrosine kinase domain of FGF receptor 3 gene (at 4p16.3 locus)

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48
Q

large cranium, short limbs, low nasal bridge, flat vertebral bodies, straight femoral bones, taller vertbebral bodies, cloverlea skull

A

type 2 thanatophoric dysplasia autosomal dominant, 2/2 new mutation in the tyrosine kinase domain of FGF receptor 3 gene (at 4p16.3 locus)

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49
Q

lower eyelid coloboma downslanting palpebral fissures, mandibular hypoplasia, malformed ears, malar hypoplasia, dysmorphic ears, aka mandibulr facial dysostosis, 40% with conductive hearing loss, 40% with visual loss, normal intelligence

A

Treacher Collins, 60% due to new mutations, autosomal dominant, 2/2 mutation in the TCOF 1 gene that leads to 1st and 2nd brachial arch maldevelopment

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50
Q

white forlock, partial albinoism, deafness (more severe ins type 2 form),

A

Waardenburg syndrome, autosomal dominant (Type 1 due to mutation in the PAX 3 gene); 4 different types,

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51
Q

polydactyly, lateral displacemnet of inner canthus, brachycephaly; 50% with cardiac anomalies (VSD, PDA, ASD, PS, TOF, TGA)

A

Carpenter syndrome, auto recessive

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52
Q

short distal extremities, polydactyly (fingers more than toes), nail hypoplasia, narrow thorax, 50% with cardiac anomalies (single atrium, ASD)

A

Ellis- van Creveld syndrome ; autosomal recessive, aka chrondoectodermal dysplasia

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53
Q

hyperpigmentation (increases with age, esp involving groin, axilla, trunk), radial hypoplasia, thumb hypoplasia, short stature, pancytopenia (presents at ~7 years but may occur during infancy)

A

Fanconi pancytopenia syndrome, auto recessive, increased number of chromosomal breaks in lymphocytes and amniotic fluid cells

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54
Q

What is the prognosis of patients with Fanconi pancytopenia

A

~35% mortality 2/2 hematologic anomaiies, increased risk of AML

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55
Q

encephalocoele, microphthalmia, cleft palate, micrognathia, ear anomalies, polydactyly, cystic dysplastic kidneys

A

Meckel-Gruber syndrome, auto recessive, locus mapped to 17q21-q24

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56
Q

encepalocoele, facial disruptions cleft lip/palate, amputations of digits or limbs

A

amniotic band syndrome

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57
Q

encephalocoele, hypertelorism, widely set nostrils, anterior cranium bifidum occultum

A

frontonasal dysplasia

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58
Q

eye abnormalities (microphthalmia, cataracts), CNS anomalies (ventriculomegaly, midline abnormalities, lissencephaly)

A

Walker-Warburg syndrome

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59
Q

2-3 toe syndactyly (95%), anteverted nostrils, genital anomalies (70%) because of failure of masculinization of male genitalia ( like hypogenitalia, hypospadius, crytorchidism), IUGR, breech

A

Smith-Lemli- Opitz syndrome, auto recessive, defect in cholesterol synthesis leading to low cholesterol levels and elevted 7-dehydrocholesterol

60
Q

thrombocytopenia precipitated by viral illnesss (esp GI illness), absent bilatearl radii (100%); thumbs present, ulnar abnormalities, abbnormal humerus in some, cardiac anomalies (30%) like TOF or ASD

A

TAR syndrome; auto recessive, ~40% mortality a/w hemorrhage in early infancy

61
Q

long facies, prominent forehead, large ears, large testes post-puberty, mental deficieny, autism, hypertextensible fingers/joints, mild connective tissue dysplasia

A

Fragile X syndrome, x-linked dominant with 80% penetrance in males and 30% penetrance in females, loss of function mutation, due to expansion of premutation (with increased number of CGG repeats) leading to full mutation (with extremely high number of CGG repeats)

62
Q

twisted fractured lightly pigmented hair, progressive cerebral deterioration (typically presents at 1-2 months of age with hypertonia, irritability, seizures, feeding difficulties), increased risk of fractures

A

Menkes disease, x-linked recessive, gene located at Xq13, secondary to abnormality of copper transport leading to copper deficiency

63
Q

47, XXY, 1 in 500-1000 male births, equally derived from maternal or paternal erors, if maternally derived, increased risk with advancing materal age

A

Klinefelter’s syndrome

64
Q

hypogonadism, hypogenitalia, infertility, behavioral difficultyl disporprotionately long arms and legs, 5th finger clinodactyly,

A

Klinefelter’s syndrome

65
Q

cystic hygroma, webbed posterior neck , gonadal dysgenesis, congenital lymphedema, short stature, broad chest with wide spaced nipples, increased risk of gonadoblastoma

A

Turner’s syndrome, 1 in 2000-5000 live born females, 50% 45X, 30-40% mosaics (45 X, /46XX more common than 45X/46XY) the chromosome that is deleted is paternal and thus no increased risk with advanced maternal age

66
Q

Cardiac (> 33%) including TAPVR, persistent L subclavian, down-slanting palpebral fissures, anal atresia with rectovestibular fistula, coloboma of the iris

A

Cat eye syndrome; extra part of 22 usually in quadruplicate or triplicat at 22q11 region (vs DiGeorge that is deletion of 22q11)

67
Q

expressionaless facies, micrognathia, 6th and 7th nerve palsy (usually bilateral); may also have 3,4,5,9,10,12 cranial nerve involement; talipes equinovarus (1/3)

A

Mobius syndrome

68
Q

4 types of abnormal development: 1 destruction of central brain nuclei, 2 hypoplasia or absence of central brain nuclei, 3 peripherla nerve involvement, 4 myopathy; a/w limb reduction defects, Poland sequence and Klippel Feil anomaly

A

Mobius syndrome; majority sporadic

69
Q

micrognathia, glossoptosis (normally sized tongue in small oral cavity), cleft palate (U-shaped); secondary to mandibular hypoplasia prior to 9 weeks; may be isolated or a/w genetic disorders (T18, Stickler syndrome, Teracher- Collins, FAS);

A

Pierre Robin sequence

70
Q

Coloboma, heart disease ( TOF, DORV, VSD, ASD, PDA, R sided aortic arch), choanal atresia, retarded growth, genital hypoplasia, ear anomalies or deafness; may also have mental deficiency (94%)

A

CHARGE association, may also have anal atreisa, DiGeorge sequence, hypocalcemia; unknown etiology

71
Q

Cardia anomalies (VSD>TOF), micromelia (small hands and feet), 5th fiinger clindodactyly, 2-3 toe syndactyly, synophrys, thin down turned upper lip, long and curly eye lashes, intiial hypertonicity, microbrachcephaly, hirsutism, low posterior hairline, cutis marmorata

A

Cornelia de Lange syndrome; unknown etiology, majority sporadic

72
Q

What causes Goldenhar syndrome (aka oculo-auriculo-vertebral spectrum or facio-auriculo-vertebral specturm?

A

unknown etiology, usuually sporadic, 1 in 3000- 5000; due to 1st and 2nd brachial arch abnormalities

73
Q

malar, maxillary or mandibular hypoplasia, lateral extension of the corner of the mouth, malformed ears, ear tags/pits,. Tongue abnormalities, deafness, mental defiency, hemivertebrae or hypoplasia or vertebrae (cervial most common), cardiac (VSD>PDA>TPF> coractation

A

Goldenhar syndrome

74
Q

short neck, low posterior hairline, limited movement of the head (may lead to webbed neck, torticollis, +/- facial aymmetry), deafness (conductive or neural) abnormal cervical vertebrae (typically fused); can be a/w Sprengel deformity (failure of scapula to descen to normal location leadting to elevation and medial rotation of inferior portion of the scapula

A

Klippel-Feil- unknown etiology, majority sporadic

75
Q

asymmetric limb hypertrophy, vascular lesions

A

Klippel-Trenaunay Wber syndrome

76
Q

syndactyly of hand, unilateral hypoplasia or absence of pectoralis muslce; possibly due to proximal subclavian arterial disruption in utero leading to poorly developed distal lumb and pectoral region on that side

A

Poland Sequence; unknown etiology, majorrity sporadic; male?female (3:1); 75% right sided

77
Q

small triamgular facies, short stature, congenital asymmetry of the skeleton, small curved 5th finger, café au lait spots, late closure of anterior fontanelle

A

Russell-Silver syndrome; majority sporadic, some with maternal uniparental disomy (possibiliuty of imprinting)

78
Q

vertebral anomalies, anal atresia, cardiac (VSD> TOF, coarctation), TEF, renal anomaly (35% with single umbilical artery), limb dysplasia

A

VACTERL association, unknown etiology, increased risk in IDM

79
Q

What is needed to make the diagnosois of VACTERL

A

3 of any of the features, of those who meet the criteria, 1/2 will have isolated VACTERL association and the other 1/2 will have another genetic anomly

80
Q

What is in the differential diagnosis for masses in the supraclavicular/paratracheal area of the neck

A

thyroid mass, parathyroid mass, esophageal diverticulum, lipoma, dermoid cyst, lymnphadenitis, cystic hygroma

81
Q

define malformation

A

abnormal tissue formation eg renal agenesis, micrognathia, cleft palate

82
Q

What is the inheritance pattern for most single gene mutations?

A

Autsomomal dominant

83
Q

What is the inheritance pattern for enzyme or protein deficiencies?

A

autorecessive

84
Q

What are the two dieases with x-linked dominant inheritance?

A

incontinentia pigmenti and Fragile X

85
Q

define deformation

A

a/w altered mechanical forces (extrinsic or intrinsic) on normal tissue eg. Arthrogryposis resulting from in utero constraints

86
Q

define disruption

A

breakdown of normal tissue; destructive; eg amniotic bands, porencephaly, limb reduction secondary to vascular anomalies

87
Q

define dysplasia

A

abnormal organization of cellular formation into tissue; deregulation. Eg hemangioma, ectodermal dysplasia

88
Q

define syndrome

A

a pattern of many malformations 2/2 one etiology

89
Q

define sequence

A

a primary defect with secondary effects eg Pierre Robin sequence 2/2 primary mandibular maldevelopment with secondary findings of micrognathia, cleft palate, and glossoptosis

90
Q

What is the inheritance pattern for most inborn errors of metabolism?

A

AR: exceptions are Hunters and OTC deficiency and x-linked adrenal leukodystrophy

91
Q

define maternal imprinting

A

silence the maternally derived gene

92
Q

define paternal imprinting

A

silence the paternally derived gene

93
Q

infant with lethargy and vomiting. Labs show low ketones and hypoglycemia. Name the class of this metabolic disorder

A

fatty acid oxidation disorder

94
Q

metabolic acidosis with LARGE anion gap, elevated ketones and hyperammonemia. P/w neonatal lethargy, vomiting, coma. Name the metabolic error

A

organic acidemia (protein, defect in amino acid breakdown leads to accumulation of organic acid bypass) like MSUD

95
Q

no acidosis or hyperammonemia; elevations in specific amino acids

A

aminoacidopathy

96
Q

hyperammonemia without acidosis; neonatal lethergy, vomting, coma, death; primary respiratory alkalosis

A

urea cycle disorders; defect in making urea (BUN), from ammonia that results from amino acid breakdown

97
Q

ammonoia above what level is an emergency need for dialysis

A

300 micromol/L: think of urea cycle disorders and organic acidemia

98
Q

mousy or musty urine odor

A

PKU

99
Q

What are the effects of elevated maternal phenylalanin on the fetus?

A

microcephaly, IUGR, intellectual disability and congenital heart defects

100
Q

labs show elevated Phenylalanine and low-normal tyrosine

A

PKU

101
Q

elevated Phenylalanine and elevated tyrosine ( up to 2000 micromol/L- name the Dx

A

transient tyrosisnemia (late fetal maturation of 4-hydroxyphenylpyruvate dioxygenase ; therefore preterm infants are at risk for this; one of the most common AA disorders; Tx protein restriction, and Vit C. Resolves in 4-6 weeks

102
Q

Labs showing elevated tyrosine, elevated urinary levels of succinylacetone, normal phenylalanine levels. P/w liver failure, Fanconi syndrome due renal tubular dysfunction. Dx?

A

tyrosinemia type 1; defiency in fumarylacetoacetate hydrolase. At risk for liver carcinoma

103
Q

What is the treatment for tyrosinemia type 1?

A

Nitisinone (formerly NTBC); prevents the breakdown of phenlpyruvate therefore decreaing toxic compounds distal in the pathway such as fumarylacetoacetate. Decreases risk for hepatocellar carcinoma

104
Q

This disease is a/w agenesis of the corpus callosum and presents by 48 hours of life with lethargy profound CNS deterioration with alternating hypertonia and hypotonia, respiratory depression and hiccups

A

non-ketotic hyperglycinemia; elevated glycine in CSF compared to plasma (> 0.08); note: glycine is an excitatory neurotransmitter that accumulates in body fluids

105
Q

infant with severe lethargy/coma; labs show anion gap metabolic acidosis and elevated ammonia, neutropenia, thrombocytopenia, hyperglycinemia. Other labs show elevated propionyl carnitine and methylcitrate. Name the Dx

A

propionic acidemia: defect in propionyl-CoA carboxylase; Tx diet and carnitine

106
Q

infant with severe lethargy/coma; labs show anion gap metabolic acidosis and elevated ammonia, neutropenia, thrombocytopenia, hyperglycinemia. Acyl carnitine profile showed elevated C3 carnitines, urine organic acids show elevated methylmalonic acid and plasma amino acids show elevated glycine. Homocysteine is normal

A

Methylmalonic acidemia

107
Q

Defiency in what vitamin can cause a false positive for methylmalonic acidemia.

A

B12

108
Q

labs show elevated ammonia (>700), increased glutamine and alanine, decreased citrulline and arginine, very elevated orotic acid in the urine. Name the defect

A

OTD deficiency, X-linked recessive

109
Q

labs show elevated ammonia, very high citrulline, high orotic aciduria, decreased arginine. Brittle hair on exam

A

argininosuccinic acid synthetase def; note orotic acid high but not as high as OTC def

110
Q

orotic aciduria, some increased citrulline, decreased arginine, if severe, leads to hyperammonemia. Brittle hair on exam

A

argininsuccic lyase def

111
Q

spastic diplegia, orotic aciduria and elevated arginine

A

arginase deficiency: may only see spastic diplegia

112
Q

normal or low orotic acid only on labs. Dx?

A

N-acetylglutamate synthetase deficiency

113
Q

What’s the treatment for OTC deficiency?

A

ammonia scavenging drugs like phenylbutyrate and glycerol phenylbutyrate; arginine

114
Q

This disorder presents soon after feeding started with poor feeding, vomiting, typically within the first 2-3 days of life, lethargy, jaundice, hepatomegaly, liver failure, renal tubular dysfunction (fanconi syndrome –>hyperchloremic metabolic acidosis, glycosuria, amino aciduria). Cataracts at birth, increased risk for E. coli sepsis. Also can have hypoglycemia.

A

galactosemia

115
Q

what are females with galactosemia at increased risk for ?

A

premature ovarian failure

116
Q

How do you diagnose galactosemia?

A

presence of reducing substances in urine

117
Q

symptoms of vomiting, lethergy and seizures, hypoglycemia begin soon after beginning cows milk or whern diet contains fruits and vegetables;

A

hereditary fructose intolerance: absence of fructose 1 phosphate aldolase in the liver

118
Q

due to a defect in alpha iduronidase, presents a 1 year. Has dysostosis multiplex, cloudy cornea but normal retina, HSM, short stature, course facia features and kyphosis, hirsuitism with stiff joints

A

MPS-1 Hurler; also have hydrocephalus and cardiac valve disease

119
Q

x-linked recessive inheritance, due to iduronidase 2 sulfatase, dysostosis multiplex, clear cornea buth with retinitis papilledema, HSM, slow loss of CNS function, presents a 1-2 years, course facial features

A

MPS-2 Hunter’s, note only MPS with retinal abnormality

120
Q

macular cherry red spots is pathognomonic for what?

A

lipid storage diseases affecting the brain

121
Q

clinically have hepatomegaly, hypoglycemia with periods of fasting, lactic acidemia, hyperuricemia, hyperlipidemia and hypertrigluceridemia

A

glycogen storage disease= glucose 6 phosphatase

122
Q

dilated cardiomyopathy, FTT, macroglossia, hypotonia; elevated CPK. name the diagnosis

A

Pompe disease = alpha- 1,4 glucosidase def (lysosomal storage disease)

123
Q

This group of disorders presents in early infancy with acute life threatening episodes of hypoketotic, hypoglycemiia induced by fasting or febrile illnesss. CPK and uric acid often elevated.

A

fatty acid oxidation disorder

124
Q

What is the most common fatty acid oxidation disorder?

A

MCAD Def = defect in medium chnain Acyl CoA dehydrogenase

125
Q

high forehead, flat orbital ridges, wide open fontanelle, epicanthal folds, flat nasal bridge, FTT, seizures, cataracts, glaucoma, polycystic kidney disease,. Labs shows elevated very long chain fatty acids, and increase urine pipecolic acid’

A

Zellweger syndrome; aka cerebro-heptao-renal syndrome

126
Q

What is the most common type of congenital abnormality of the upper extremity?

A

syndactyly

127
Q

erythematous and vesicular papules in the flexor surfaces of the limbs and trunk in a female infant. It then developes in to a verrucous eruption and then into areas of pigment. Dx? What is seen on the Tzanck smear?

A

incontinentia pigmenti ; eosinophils

128
Q

what is the most common tumor of infancy?

A

hemangioma

129
Q

term infant at 6 hours of age p/w profound metabolic acidosis, elevated pyruvate and lactate, hyperammonenima, ketonuria. What is the diagnosis and Tx?

A

pyruvate carboxylase deficiency, Tx is biotin

130
Q

hypertelorism, downward slant of palpebral fissures, mental deficency, cat-like cry, microcephaly, hypotonia. Name the syndrome

A

Cri du chat- deletion 5p syndrome. Note deleted part of the 5p is of paternal origin

131
Q

Name the syndrome: high forehead broad or beaked nose (Greek warrior helmet), hypertelorism, low-set simple ear with preauricular dimple, microcephaly, cranial asymmetry,

A

Wolf- Hirschhorn syndrome = 4p deletion (origin of deleted piece is usually paternal)

132
Q

What are functional deficits in children with Wolf-Hirschhorn syndrome?

A

hypotonia, seizures, FTT, intellectual disability ( mod-severe), May also have CHD

133
Q

What is the most common chromosomal deletion on humans?

A

DiGeorge, aka Shpritzen; auto dom with variable expression

134
Q

What kind of tumors are infants with Beckwith-Weideman syndrome at risk for developing?

A

increased risk for developing embryonal tumors, particularly Wilms tumor and hepatoblastoma, although neuroblastoma is observed rarely

135
Q

Mom is acute fatter liver of pregnancy (AAFLP). What should the infant be monitored for after delivery?

A

hypoglycemia; there is an association between mothers with AFLP and fetuses affected by LCHAD (long chain 3 hydroxyacyl-CoA dehydrogenase deficiency); these mother’s are obligate carriers of the condition

136
Q

What are the fatty acid oxidation disorders in the fetus that can cause maternal HELLP or acute fatty liver disease of pregnancy?

A

LCHAD, MCHAD, carnitine palmitoyltransferase 1 (CPT-1) deficiency, and trifunctional protein deficiency

137
Q

What is the best screening test for fatty acid oxidation disorders?

A

plasma acylcarnitine profile; these conditions present with non-ketotic or hypoketotic hypoglycemia; you can do urine organic acids but the acylcarnitine profile is first line

138
Q

3 month old infant presents with seizures, poor growth, and hepatomegaly. Labs show mild metabolic acidosis and elevated uric acid and lactic acid. Whats the diagnosis and long term treatment?

A

glycogen storage disease, type 1 is most common. Manage with corn starch

139
Q

What is the dietary management of LCHAD?

A

low fat diet and MCT oil

140
Q

In a patient with hyperammonemia, what imaging study should be obtained immediately?

A

head US since hyperammonemia causes cerebral edema

141
Q

What are the most common causes of hyperammonemia?

A

urea cycle disorders and organic acidemias; you distinguish the two with a blood gas; urea cycle disorders have a respiratory alkalosis and organic acidemias (and fatty acid oxidation disorders) cause a metabolic acidosis

142
Q

Child with Short stature with macrocephaly that develops over time; coarse facial features, and enlarge liver on exam. Whats the most likely diagnosis? Whats the best screening test?

A

lysosomal storage disorder; screen for this with urine mucopolysaccharide

143
Q

CF and most IEM inheritance

A

autosomal recessive

144
Q

spherocytosis and Waardenburg sydrome inheritance

A

autosomal dominant

145
Q

G6PD, Wiskott-Aldrich, Hemophilia A and B inheritance

A

x-linked recessive

146
Q

A person with a genotype for a disease may not exhibit the phenotype but can transmit the disease to the offspring (all or none phenomenon)- What is this called and what is an example of this?

A

reduced penetrance; retinoblastoma

147
Q

what is the most common genetic cause of short stature?

A

Achondroplasia

NICU Boards (10 decks)

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