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Syndromes Flashcards

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1
Q

Fragile X genetics

A

trinucleotide repeat CGG in FMR1 region on X-chromosome –> PCR/southern blot looking at the number of repeats
Genetic anticipation
>200 copies = full mutation [5-44 normal, 44-54 grey zone, 55-200 = premutation carrier]
Female carrier frequency est 1:178

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2
Q

Fragile X features

A 
large ears, long face, high arched palate, dental crowding
macro-orchadism (post-pubertal)
joint hyperlaxity (pes planus)
seizure 20%
macrocephaly (subtle)
MVP <3
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3
Q

Fragile X development outcomes

A 
hyperactivity
sensory integration problems
intellectual disability (female IQ > male)
ASD
Enuresis
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4
Q

Fragile X health supervision

A 
Eyes - strabismus, vision
ears - recurrent AOM, may need tubes to preserve hearing
cardiac - MVP (exam for murmur or click)
MSK - joint laxity
CNS - seizure risk 
Development assessment
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5
Q

Fragile X Anticipatory guidance

A

Genetics referral
psychosocial
support groups
early intervention for PT, OT, SLP as required
Behavious (outburts, sexual issues etc)
Education (preschool, education needs, vocational training)

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6
Q

Fragile X DDx (x-linked [2] or similar features[1])

A

Usual ones: ADHD, LD, ODD, FASD, ASD
–> X-linked intellectual disability disorders: 1) Lujan-Fryns Syndrome (marfanoid habitus and macroorchidism) and
2) Atkin Syndrome (large ears, macroorchidism, and short stature)
–> Sotos Syndrome (Cerebral Gigantism): Overgrowth syndrome with features of macrocephaly, prominent forehead, prominent chin/mandible, coordination
dysfunction, and usually intellectual disability and difficult behavior.

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7
Q

Prader-Willi genetics

A

15q11 –> 75% paternal microdeletion
20% maternal uniparental disomy
Absence of the paternally inherited contribution of the PWS region of chromosome 15 leads to lack of the gene products and causes the findings of PWS
Methylation analysis + FISH

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8
Q

Prader-Willi features

A

Neonate: hypotonia, FTT, poor feeding
Pre-school: hyperphagia, dev delay
Bitemporal narrowing, almond eyes, tapering of digits

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9
Q

Prader-Willi associated medical conditions

A

Endo: hypothalamic insufficiency –> GH = short stature(eligible for replacement), primary adrenal insuf, hypothyroid
hyperphagia - obesity, OSA, T2DM, dyslipidemia
central sleep apnea
scoliosis (musc hypotonia)

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10
Q

Prader-Willi development outcomes

A

Gross motor delay (sit at 12 months, walk at 24)
poor coordination
language delay
intellect - IQ 60-70 (strength is visual-spacial, reading, weak in math and sequence processing)
tantrums, ADHD, OCD, psychosis, high pain tolerance

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11
Q

DDx for obesity/intellectual disability

A

Prader-Willi
Bardet-Biedl Syndrome (polydactyly, retinitis pigmentosa, cystic renal disease)
Cohen Syndrome (hypotonia, prominent central incisors, retinal dystrophy)
Alstrom Syndrome (cone-rod dystrophy, deafness, type 2 diabetes)
Sotos Syndrome

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12
Q

Prader-Willi health supervision newborn

A

confirm diagnosis
review feeding, hypotonia, need for NG
OSA
hypogonadism

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13
Q

Prader-Willi health supervision infancy

A 
plot growth on growth curve
development assessment and early referral 
vision and hearing (annual)
boys - undescended testes
dietitian - aggressive weight mgmt
assess GH
dentist - increased risk of caries 
OSA - sleep study (esp before GH)
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14
Q

Prader-Willi health supervision childhood

A 
Vision - annual
Thyroid q2-3 years or if symptomatic
Behaviour (hyperphagia)
Growth and development
scoliosis
Premature adrenarche
skin-picking (behavioural)
risk of psychosis when older
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15
Q

Angelman syndrome genetics

A

15q11
Missing maternal!
70% maternal microdeletion
10% UBE3A gene mutation (gene in this area)
5% paternal uniparental disomy (milder phenotype)
10% unknown
rest - imprinting
testing: DNA methylation is most sensitive single test, but DNA sequence analysis required to identify UBE3A mutations. Recurrence risk <1% for microdeletion
and pat. uniparental disomy. Recurrence risk as high as 50% for maternally inherited imprinting center defect or UBE3A mutation. (same as P-W)

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16
Q

Angelman syndrome features

A

“happy puppet”
psychomotor delay
seizures
acquired microcephaly
GDD
forward bend gait, arms held high bent at elbows
Severe intellectual disability
Good receptive language skills, but generally non-verbal
persistent social smile and bursts of laughter (as early as 10 weeks)
hyperactive
abnormal sleep cycle

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17
Q

Angelman syndrome health supervision

A 
Hearing and vision 
Adaptive equipment
early intervention by multi-D
Seizures - AED, neurology involvement 
family support for hyperactivity and abn sleep cycle
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18
Q

Beckwith-Weidemann genetics

A

11p15 - dysregulation of imprinted genes

sometimes AD, most spontaneous loss of methylation centre for imprinting. Some paternal uniparental disomy (loss of mom)

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19
Q

Beckwith-Weidemann features at birth (8)

A 
LGA 
omphalocele or umbilical hernia 
macroglossia, 
facial nevus flammeus, 
post. helical pits, 
prominent eyes, 
anterior ear lobe creases
HYPOGLYCEMIA + polycythemia
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20
Q

Beckwith-Weidemann medical conditions

A 
Hypoglycemia
polycythemia
hypocalcemia
Dyslipidemia
hypothyroid
cardiomegaly (rare - HLHS, PFO, mild PS)
nephromegaly 
risk of malignancy (embryonal tumours)
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21
Q

Beckwith-Weidemann malignancy risk and supervision

A

Wilm’s, hepatoblastoma, neuroblastoma
AUS q3mo until age 8
AFP q6weeks until age 4

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22
Q

22q11.2 Deletion Syndrome Genetics

A

Usually sporadic mutation from normal parent
AD from affected parent
FISH

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23
Q

22q11.2 Deletion Syndrome features

A

Cardiac: TOF, VSD, interrupted aortic arch
facial: hypertelorism, long tubular nose, palate anomalies, velopharyngeal insuf
hypoCa! HypoPTH
Thymus aplasia - T-cell immunodef.
30% renal problems
Chronic AOM and sinusitis - with conductive hearing loss > SNHL
eyes: strabismus, posterior embryotoxin
Development: >90% delay, ASD 20%, communication disorder
Increased psych: bipolar, schizo, mood

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24
Q

22q11.2 Deletion Syndrome DDx

A

Cayler Cardiofacial Syndrome (asymmetric crying facies +conotruncal cardiac malformation): also 22q11.2 deletion
CHARGE Syndrome also features congenital heart disease, immunodeficiency,
hypocalcemia, and hearing loss.
Some overlap with oculo-auriculo-vertebral spectrum
(Goldenhar Syndrome), Kabuki Syndrome, Alagille Syndrome

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25
22q11.2 Deletion Syndrome health supervision (8)
``` Cardiology evaluation Endocrine evaluation -->Calcium, hypoparathyroid studies Renal ultrasound Developmental evaluation Early referral for Speech Therapy Monitor for Hearing Loss Immunology evaluation ```
26
Turner Syndrome Genetics
karyotype - 45XO (majority) can also have mosaic 45X-/46XX* *sometimes one of the mosaic X can have a structural defect
27
Turner Syndrome associated cardiac findings
Bicuspid aortic valve, CoA, HLHS with heart failure | LEFT heart lesions (vs. Noonans)
28
Turner Syndrome associated renal findings
>60% | horseshoe kidney, ectopic kidney, aplasia, double collecting system, UPJ obstruction
29
Turner Syndrome associated ENT findings
chronic AOM, conductive hearing loss
30
Turner Syndrome associated MSK findings
DDH (5-10%) | Scoliosis or kyphosis (10-20%)
31
Turner Syndrome associated endo findings
``` short stature - GH deficiency (replacement) delayed puberty, infertility menarche in 1-3% obesity, dyslipidemia, hyperinsulinsm thyroid ```
32
Turner Syndrome associated autoimmune findings
celiac, vitiligo, thyroiditis, IBD
33
Turner Syndrome associated derm findings
vitiligo keloids dysplasia
34
Turner Syndrome associated NEONATAL findings
Lymphedema of hands and feet, hydrops nuchal webbing broad chest with wide nipples L cardiac defect
35
Turner Syndrome associated eye findings
strabismus, cataract, ptosis
36
Turner Syndrome development
Non-verbal learning disabilities, normal IQ - visual-spacial, math, visual-motor ADHD (24%) depression, anxiety Hearing loss - CHL from recurrent AOM, SNHL >6 years
37
Turner Syndrome health supervision
``` Cardiac: Initial evaluation and then yearly ECHO o BP checks at all visits Endocrine: o Growth Hormone to increase stature o Estrogen replacement therapy Early treatment of scoliosis Annual skin exams Annual thyroid function Monitor LH and FSH after age 10 years School accommodations Motherhood through adoption ```
38
Klinefelter Syndrome genetics
Karyotype - 47 XXY (mostly - some mosaic 46XY/47XXY)
39
Klinefelter Syndrome features
tall stature (long arm span) gynecomastia hypogonadism hypercoagulable (DVT, PE risk)
40
Klinefelter Syndrome malignancy risk
breast CA (20x over XY male) ALL, lymphoma (NH and Hodgkins) bHCG secreting tumours (extragonadal germ cell tumours)
41
Klinefelter Syndrome endocrine features
infertility from azospermia delayed puberty (low test, increased LH, FSH) hypogonadism
42
Klinefelter Syndrome autoimmune disorders
SLE, RA, thyroid, T2DM
43
Klinefelter Syndrome developmental outcomes
``` Normal IQ delayed expressive language specific learning disabilities ADHD behaviour: shy, withdrawn, low maturity and self-esteem ```
44
Klinefelter Syndrome DDx
Kallman syndrome (hypogonadotropic with anosmia), Prepubertal: milder form of Fragile X ASD, hearing loss
45
Klinefelter Syndrome routine health supervision
Reassure regarding gender identity Peds Endo: testosterone replacement IM or patch o Begin age 11-12 yr. o More masculine pubertal development; muscle mass o Improves bone mineral density o Improves self-esteem, mood and behavior Plastic surgery available for gynecomastia Monitor for male breast cancer School accommodations/Early Intervention for language problems Behavioral support Klinefelter’s Syndrome Association, Inc.
46
NF1 genetics
Autosomal dominant mutations (90%) or whole gene deletions (5%) of NF1 gene at chromosome 17q11.2
47
NF1 Dx criteria
Two or more of the following: Two or more neurofibromas or one plexiform neurofibroma o 6 or more CALM >5mm in prepubertal o 6 or more CALM >15mm postpubertal Axillary or inguinal freckling (Crowe’s sign) Optic nerve tumor Two or more Lisch nodules (iris hamartoma) Distinctive osseous lesion: sphenoid dysplasia or long-bone bowing with or without pseudoarthrosis First degree relative with NF-1
48
NF1 cardiac associations
PS, CoA, CAD
49
NF1 routine health supervision
``` Developmental assessment/school support MRI any suspected plexiform neurofibromas Low threshold for Brain MRI Manage scoliosis Routine BP checks Annual Peds Ophtho exams ```
50
Tuberous Sclerosis genetics
2 mutations: TSC1, TSC2 --> AD usually de novo
51
TS associated findings
cortical brain tubers --> seizures subenpendymal nodules --> giant cell astocytoma cardiac rhabdomyoma derm: ash leaf, shagreen, periungual fibromas, ficial angiofibromas retinal astrocytic hamartomas
52
TS development outcomes
intellectual disability (45-75%) ASD (50%) learning disability
53
TS routine screening
``` CT/MRI at diagnosis Echocardiogram in infancy Renal US at diagnosis Peds Ophthalmology at diagnosis Early Developmental Evaluation ```
54
Achondroplasia genetics
AD, FGFR3 gene most commonly from sporadic mutation If both parents have mutation then inheriting 2 mutations (homozygous) is lethal
55
Achondroplasia CNS
hydrocephalus - 5%, monitor HC small foramen magnum - 10% fatal apnea before age 2 spinal stenosis (everyone has it)
56
Achondroplasia routine health supervision
Standardized linear growth charts Environmental and adaptive modifications --> Driving, reaching, etc MRI or CT brain and C-spine after diagnosis during neonatal period or early infancy --> Close monitoring of HC, risk of hydrocephalus Sleep study Audiology Avoid poor infant positioning (<12months) --> NO unsupported sitting, umbrella strollers, swings Close neurologic monitoring with regular exams
57
Achondroplasia anesthetic risk
manipulation of the neck - risk of spinal cord compression bc of small FM appropriate dose of meds for size lack full extension of elbows sometimes - difficult IV kyphosis, lumbar lordosis - avoid spinal anesthetic all pregnant women with achondroplasia need c/s - pelvis too small some have restrictive lung disease (5%)
58
Marfan Syndrome
AD, full penetrance, variable expressivity FBN1 gene on chrom 15q21 Mutation detected in 90% of pts meeting clinical criteria
59
Marfan associated findings
Tall stature: incr arm span to height (>1.05), decr upper:lower segment (<0.85) <3: aortic root dilatation, MVP/regurg arachnodactyly eyes: Ectopia lentis, myopia, cataracts, glaucoma, retinal detachment, exotropia/strabismus Risk of spontaneous pneumo (apical blebs) Connective tissue: Pectus (ex/car), pes planus, scoliosis, dural ectasia, jt hyperextensibility
60
Marfan Ddx
homocysteinuria Kleinfelter Elhers danlos Stickler syndrome Beals syndrome (congenital contractural arachnodactyly) Loeys-Dietz ( dilated tortuous aorta, cleft palate or bifid uvula, hypertelorism, occasional craniosynostosis, arachnodactyly, often translucent skin )
61
Marfan routine health supervision
Cardiovascular o Yearly echocardiography o Beta-blockers reduce hemodynamic stress on aortic wall o Surgical aortoplasty (aortic diameter > 5cm or smaller diameter but rapid progression of dilatation in very young children) o Mitral and aortic valve replacement for progressive MI, AISBE prophylaxis essential o Avoid competitive sports and isometric exercise Ocular: Experienced Peds Ophthalmology is essential o Lens dislocation may require surgical lens implantation Progressive scoliosis: surgical stabilization Severe pectus excavatum may limit cardiopulmonary function
62
Wilsons disease genetics and diagnosis
AR - defective Cu transport from liver into ceruloplasmin and biliary system high serum/urine Cu, low ceruloplasmin ATP7B gene on DNA sequence - once diagnosed screen all sibs bc they can be asymptomatic and is treatable
63
Wilsons disease associated findings
``` Lifelong neurologic impairment o Drooling o Tremors Fulminant hepatic failure Cirrhosis, portal hypertensions Hemolytic crisis (can be fatal) Cerebral and brain stem atrophy White matter changes on brain MRI Kayser-Fleischer Rings Low serum ceruloplasmin ```
64
Wilsons disease development
``` Teens: Deteriorating handwriting Tremors Clumsiness Spasticity Academic decline Behavior disturbance ```
65
Wilsons psych symptoms
bipolar, depression, dysthymia, psychosis, schizo
66
Wilsons treatment
Early Diagnosis and treatment can prevent progression Partner with Peds GI Copper chelation therapy o Penicillamine or triethylene tetramine dihydrochloride + oral zinc Copper avoidance --> Shellfish, nuts, liver, chocolate
67
Long QTc Syndrome (3)
Congenital (+ FamHx 60%) Romano-ward (less severe) Jervell and Lange-Nielsen
68
Jervell and Lange-Nielsen syndrome
``` Long QTc, Ventricular tachyarrhythmias profound hearing loss (SNHL) AR High risk of sudden cardiac death mutation in cardiac potassium channel ```
69
Romano-Ward syndrome
Long QTc familial history of sudden death, syncope syncope, sz., palpitations with exercise or intense emotions Screen family members, cardio ref, B-blockers, supervised swimming etc. like seizure kids
70
Noonans genetics
AD | Multiple mutations involved. 1/2 from PTPN11 gene
71
Noonans vs. Turners
Cardiac features are typically left-sided in Turner syndrome but right-sided in NS; coarctation of the aorta and/or bicuspid aortic valve are more characteristic of Turner syndrome; girls have gonadal dysgenesis in Turner syndrome; normal fertility in girls with NS. Turner syndrome is attributable to loss of 1 sex chromosome. NS behaviour more variable, more cognitive issues and LD
72
Noonans cardiac findings
Pulmonary valve stenosis HCM secundum AS Partial AV canal defect
73
Noonans endo findings
Growth: 50-70% short stature - normal birth wt and length, then start to taper off Bone age delay ~2years puberty delayed with less of a growth spurt thyroid Abs common, but hypothyroid not more common
74
Noonans heme findings
coagulation disorders: Factor XI def | low or defective Plt

H - pediatrics (15 decks)

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