Genetics/Metabolics Flashcards

Question 1

Q

Nurse worried about floppy baby (shown: picture of T21 infant). Head circumference and parameters given. Which of the following investigations will be most helpful?
a. chromosomal study
——————
Picture of child with Down Syndrome. Child noted to be hypotonic. Term, normal weight. Questions is : what test most expediously confirms diagnosis.
a. Chromosome analysis
b. TSH, T4
c. Muscle biopsy

Answer

A

Chromosome analysis

Question 2

Q

Baby with suspected trisomy 21 with a petechiael rash, high WBC, anemia, and thrombocytopenia. On exam, has hepatosplenomegaly. What is the most likely reason for his presentation?

a. Sepsis
b. CMV infection
c. Transient myeloproliferative disorder

Answer

A

Transient Myeloproliferative Disorder

High WBC
Blasts!
Anemia
Thrombocytopenia
HSM

10% of T21
Usually resolves spont w/in first 3mo, but increased risk of leukemia later in life, so need close F/U
Chemo only if life threatening complications:
- hepatic fibrosis: obstructive jaundice
- cardiac failure
- bleeding problem

Question 3

Q

9. You are following a newborn with Trisomy 21. What investigation should you do on an annual basis?
A. Xray of c-spine
B. TSH
C. Celiac screen
D. Sleep study
-------------------
61. 14 y.o. with T21.  What test should be done annually?  
a. X-ray of cervical spine
b. TSH
c. Audiology
d. Ophthalmologic exam

Answer

A

TSH - NBS, 6mo + 12mo, then Q1Y

Xray of C-spine - only if Sx, not routine

Sleep study - need at 4yo, then refer if Sx

Audiology:

newborn screen
re-screen at 6mo with BAER
if normal, do audiogram at 1y
if abN, behavioural audiogram + tympanometry Q6mo

Optho:

refer by 6mo for strabismus, cataracts, nystagmus
1-5yo: Q1Y
5-13yo: Q2Y
13-21yo: Q3Y

Question 4

Q

You have diagnosed a baby with trisomy 21 at birth. What should be done for the baby at 7 days of life?
A. CBC + smear
B. TSH
C. Eye exam

Answer

A

CBC +smear

TO evaluate for TMD + polycythemia

Question 5

Q

Trisomy 21 child, mom wants to know when you should start screening for atlanto-axial subluxation; she is 9 months old.
a. 1 year old
b. 5 year old
c. Only if symptomatic
d. At puberty

Answer

A

Only if symptomatic
- significant neck pain, radicular pain, weakness, spasticity, change in tone, gait difficulties, hyperreflexia, change in bowel/bladder fxn

10-30%

Educate parents on importance of C-spine positioning + precautions
C-spine Xray most accurate after 3yo (adequate vertebral mineralization + epiphyseal development)
If Sx, do plain C-spine Xrays in NEUTRAL position. Only do flex + ext films if normal. Refer to neuroSx or ortho.
No trampoline in <6yo, direct supervision of older kids
Counsel around contact sports

Question 6

Q

1 week old infant with T21. What should be done prior to discharge home?

a. ABR
b. Ophthalmology consult
c. Abdo U/S
d. Echocardiogram

Answer

A

ABR before D/C

ECHO need to do but by 1mo of age

Question 7

Q

Newborn baby with Down Syndrome. Day 2 of life, not tolerating feeds, lots of emesis. What is the NEXT investigation?
a. CT abdomen
b. NG insertion
c. AXR
d. Abdominal U/S
—————
Trisomy 21 at day 2 of life with vomiting. What do you order?
a. AXR
b. Barium swallow
c. U/S
—————
Newborn with trisomy 21, non-bilious vomiting after feeds. What’s the test?
a. Abdominal ultrasound
b. Barium swallow with follow through
c. Abdominal Xray
d. observe for now
——————————————
An infant with Downs presents with feed intolerance and vomiting shortly after birth. What is the most appropriate first investigation?
a. Abdominal X-ray
b. GI series
c. barium enema
d. abdominal ultrasound

Answer

A

AXR should be obtained in all infants with signs of bowel obstruction

T21 + GI
Classic: duodenal atresia (double bubble)
Less common: imperforate anus, esophageal atresia, hirschsprung
Very common: celiac

Question 8

Q

11. A 2 week old baby’s newborn screen came back positive for Carnitine Palmitoyltransferase II Deficiency. What is the best course of action until results are confirmed?
A. Start PO Carnitine
B. Feed frequently (Q3H) 
C. Amino Acid formula
D. Hypercaloric formula

Answer

A

Feed frequently Q3H
Prevent hypoglycemia
(If this baby was sick then D10 infusion)

Disorder of long-chain FAOD

Question 9

Q

Fatty Acid Oxidation Defect. What is the most common presentation
a) Intractable Seizures
b) Coma

Answer

A

Most common presentation: acute episode of life threatening coma and hypoglycemia induced by period of fasting

Question 10

Q

4 m.o. male with cardiomegaly, sepsis-like picture and hypoglycemia
a. inborn error of metabolism
b. Sepsis
c. CHD

Answer

A

IEM

I think it’s hard to link CHD to hypoglycemia

Question 11

Q

newborn presents with the following lab values pH 7.1; HCO3 decreased, normal sodium/potassium Elevated lactate, ammonia and neutropenia. Diagnosis:
a. galactosemia
b. MCAD
c. methamelonic acidemia
d. urea cycle defect
————–
Baby who presents to ED looking unwell with emesis, and lethargy. After fluid resuscitation, he improves. While in hospital, cow’s milk was re-introduced. Day 5 of his admission, he suddenly looks lethargic. Findings pH 7.1, HCO3=6, Na/K normal. High lactate, ammonia
a. galactosemia
b. methylmalonic acidemia
c. UCD
—————
3 week old . PH 7.1. High ammonia. Etiology?
a. Galactosemia (carbohydrate metabolism issue)
b. MMA
c. Maple syrup urine dx → amino acidopathy

Answer

A

MMA

This case is metabolic acidosis. With high lactate, suggests anion gap.

DDx for hyperammonemia:
UCD = respiratory alkadosis
MMA = organic acidemia = severe metabolic acidosis + anion gap
MCAD = FAOD = metabolic acidosis, no AG. Hypoketotic hypoglycemia

Galactosemia - no hyperammonemia
Maple syrup urine disease = aminoacidopathy = NO hyperammoniemia, NO metabolic acidosis. Elevated selected aa.

Question 12

Q

3 week baby with lethargy, poor feeding, and hepatomegaly. Has a normal lactate, ammonia, pH, CO2. What is the most likely diagnosis?
a. Maple syrup urine disease (organic acidemia)
b. Propionic acidemia (organic acidemia)
c. Galactosemia
d. Urea cycle defect

Answer

A

?? MSUD vs Galactosemia??

DDx: sepsis, IEM, CHD

DDx for normal ammonia IEM

Aminoacidopathies (e.g. tyrosinemia, PKU, homocysteinuria)
Galactosemia

DDx for hyperammonemia

Propionic acidemia = organic acidemia = severe metabolic acidosis + AG
UCD = resp alkalosis, normal glucose
FAOD = hypoketotic hypoglycemia, non-AG metabolic acidosis (high Cl)

Question 13

Q

4 day-old male presents with E.coli sepsis and a midline abdominal mass. Which investigation is most likely to confirm dx?

a. AUS
b. VCUG
c. GALT level

Answer

A

VCUG?
I think this is an obstructive uropathy due to PUV with the midline mass being the bladder

PUV U/S
bilateral hydronephrosis
Keyhole sign
thickened bladder wall
dilated bladder

Question 14

Q

A baby has a direct hyperbilirubinemia. He was treated for an E. coli sepsis. He has hepatomegaly on exam. Which test will likely yield the diagnosis?
a. RBC GALT function
b. G6PD level
c. Osmotic Fragility
d. RBC glucose-phosphate-1 deficiency

Answer

A

RBC GALT function

G6PD level = unlikely E coli, hepatomegaly
Osmotic fragility = hereditary spherocytosis = splenomegaly
RBC glucose-phosphate-1 deficiency. Is this for G6PD?, Galactosemia is an accumulation of galactose-1-phosphate

Question 15

Q

Child with respiratory alkalosis, encephalopathic, showing subtle signs of increased ICP
a. Maple syrup urine disease
b. organic acidemia
c. UCD

Question 16

Q

Child with cardiomegaly and hypoglycaemia, what is likely underlying process
a. metabolic
b. sepsis
c. congenital heart disease
—————–
Baby 6 days old presents in shock. Glucose 1.6 and cardiomegaly on CXR. What is the most likely etiology of the shock?
a. Congenital heart disease
b. Overwhelming sepsis
c. IEM

Question 17

Q

A newborn baby is in the NICU with an illness you suspect to be mitochondrial related. What would you give the baby while awaiting more definitive treatment
a. IV glucose
b. IV carnitine
c. IV thiamine
———————–
A child presents with a severe metabolic disorder and is extremely unstable. What can you give the child which may give him some benefit while awaiting a diagnosis?
a. D25W
b. carnitine
c. thiamine

Answer

A

IV glucose

Question 18

Q

3 year old girl with clear regression of developmental milestones (multiple examples of regression given), nothing else significant mentioned. What is the most likely diagnosis?
a. Adrenoleukodystrophy
b. GM1 gangliosidosis
c. Tuberous sclerosis
d. MELAS
—————-
3-4 year old female with normal development until the last 6 months. Now no longer walking, speaking and other developmental regression.
a. adrenoleukodystrophy
b. GM1 gangliosidosis
c. MELAS

Answer

A

RETT!

But in this case, GM1 gangliosidosis (lysosomal storage d/o) b/c only one of the choices that has regression

GM1 gangliosidosis

presents in birth or by 6mo
initially normal, then dvlpt slows, then regresses
cherry red spot in macular region
Dx: B-galactosidase enzyme assay in leukocytes + cultured fibrocytes
poor prognosis

MELAS

mitochondrial encephalopathy with lactic acidosis and stroke-like episodes
initially normal, then delays
red ragged fibres
sz, dementia, recurrent migranes, vomiting
hemanopia or cortical blindness
muscle Bx
progressive degenerative disorder

Adrenoleukodystrophy

X linked
accumulation of VLCFA (Dx. in plasma, RBCs or cultured skin fibroblasts)
hyperactivity (often mistaken for ADHD)
sz, ataxia
loss of hearing, vision, ability to speak + swallow
adrenal dysfunction, mild hyperpigmentation
25% of Addison’s (usually in adulthood)
progresses rapidly to coma by ~2y
no cure. Supportive. E.g Lorenzo’s Oil.

Question 19

Q

What is the most likely presentation of an inborn error of metabolism?
a. Encephalopathy preceding focal neurological deficit
b. Generalized hyperreflexia
c. Lactic acidosis with severe dehydration

Answer

A

?? encephalopathy preceding focal neuro deficit

Question 20

Q

A 7 year old male presents with increasing difficulties at school. On exam he has a pale optic nerve and evidence of slight ataxia with subtle pyramidal signs. What is the cause of his problems?
a. Mucopolysaccaridosis
b. Adrenoleukodystrophy

Answer

A

Adrenoleukodystrophy

Xlinked
accumulation of VLCFA (plasma, RBC, cultured fibroblasts)
hyperactivity (mistaken for ADHD)
sz, ataxia
loss of vision, hearing, ability to speak/swallow
adrenal dysfunction, mid hyperpigmentation
25% of Addison’s (onset in adulthood)
childhood onset (4-8yo) progresses to coma by 2y
No Tx. Supportive. Lorenzo’s oil

Question 21

Q

Babe born with flat nasal bridge, thin upper lip, flat philtrim, short palpebral fissures. Your questions to mom on history will include exposure to what substance….
a. cocaine
b. marajuna
c. tobacco
d. alcohol

Question 22

Q

13 yr old boy with height >95th%ile, doing poorly in school. Hasn’t started puberty yet. What is the likely diagnosis?
a. Klinefelters
b. Fragile X
c. Noonans
d. Marfan’s
——————-
14 yo male with delayed puberty. He has few friends, and has some difficulty in school. His weight 50th percentile, height > 95th percentile. On exam, he has wide carrying angle, and wide pelvis. Tanner stage 1.
a. Marfan syndrome
b. Fragile X
c. Noonan
d. Klinefelter

Answer

A

Klinefelters

Tall
Delayed puberty
Learning difficulties

Question 23

Q

A child is referred because of he has language delay and poor eye contact. On exam you note that he has large ears and a long face. His mother notes that his uncle also looks that way. What is his underlying diagnosis?
a. Fetal alcohol syndrome
b. Fragile X

Answer

A

Fragile X

Question 24

Q

2year-old boy with hypoglycemia, triangular faces with 4 café au lait macules. Ht 3rd, wt 3rd, HC 50th. Diagnosis?
a. Russel silver syndrome
b. NF-1
c. Inborn error of metabolism

Answer

A

Russell silver

Question 25

Q

2. Patient seeing you for health surveillance with achondroplasia at 1 month of age. What do you have to do as part routine surveillance?
A. ECG
B. EEG
C. MRI brain
D. Renal ultrasound

Answer

A

MRI brain

To r/o foramen magnum compression b/c this is significant risk factor for sudden death

Question 26

Q

Child with achondroplasia. Most likely cause of disproportionate body:
a. Midshaft bone shortening
b. Proximal bone shortening
c. Distal bone shortening
d. Short torso
—————
Achondroplasia, why short?
a. Shortening of proximal part of long bones
b. Shortening of distal part of long bones
c. Shortening of middle part
d. Shortening of whole limb
—————
Which feature is typical for achondroplasia?
a. proximal limb shortening
b. distal limb shortening
c. short mid-portion of the bone
d. non-specific shortening

Answer

A

Proximal limb shortening (rhizomelic)

Question 27

Q

Which of the following is inherited in an autosomal dominant fashion?
a. G6PD
b. Hereditary Spherocytosis

Answer

A

Hereditary Spherocytosis

G6PD is X linked

Question 28

Q

A child has multiple ash leaf spots and seizures. The mother is pregnant and wants to know whether or not her unborn child will have the same problems. What do you tell her about the risks to the fetus?
a. 50% if male
b. 50% regardless of gender
c. 25% regardless of gender
d. recurrence risk is minimal

Answer

A

Recurrence risk is minimal

Can only say 50% if mother is known to be affected

Tuberous sclerosis

Question 29

Q

Teenage boy, hyperextensible joints, pes planus, pectus carinatum, murmur. What is the inheritance pattern?
a. Autosomal Dominant
b. Autosomal Recessive
c. X-linked Recessive
d. Multifactorial
—————
Description of a kid with Marfanoid characteristics. What is the transmission?
a. AD
b. AR
c. X-linked recessive
d. Variable
—————
Teenager presents with large armspan, suspect Marfans Syndrome. What is the mode of inheritance?
a. autosomal dominant
b. autosomal recessive
c. X-linked dominant
d. X-linked recessive

Answer

A

Autosomal dominant

Marfan

Question 30

Q

What is the most common cause of sensorineural hearing loss?
a. Hyperbilirubinemia
b. Genetic
c. CMV (did NOT say congenital)
d. Recurrent otitis media

Answer

A

Genetic causes of SNHL responsible for up to 50% of SNHL
- AR responsible for 80% of all childhood cases of SNHL

CMV is most common acquired cause of SNHL

Conductive HL most common type of hearing loss in children

Question 31

Q

A 2yo boy’s weight is at the 99.9th%, length at the 25%. He is hypotonic and is found to have pauses in his breathing when sleeping. Which of the following tests would give the diagnosis?
a) Cytogenetics
b) 7q sequencing
c) karyotype

Answer

A

Cytogenetics

Question 32

Q

20 month old M with unusual facies, hypocalcemia, hearing loss. Which of the following is most likely to reveal the diagnosis?
a) FISH for 22q11
b) 7q

Answer

A

FISH for 22q11

Question 33

Q

A child is known to have congenital central hypoventilation syndrome. He also had Hirschsprung disease. What test is required for annual screening for another associated condition?
a) Hearing test
b) Holter
c) MRI head

Answer

A

72H Holter for cardiac asystoles
- Q6mo until 3yo, then Q1Y

Also beware of neural crest tumours

Chest + abdo imaging (for ganglioneuromas + ganglioneuroblastomas)
urine catecholamines (for neuroblastomas)
Q3-6mo until 6yo, then at least Q1Y

Question 34

Q

Kid w hemihypertrophy, what would you do?

a. Renal u/s

Answer

A

Renal U/S

Beckwith-Wiedemann

Question 35

Q

Child with infantile cystinosis. Most likely complication:
a. Renal failure
b. Cataracts
c. Nephrolithiasis
—————
Findings in infantile cystinosis:
a. Cataracts
b. Renal failure
c. RTA
—————
Infantile cystinosis. What do you get?
a. cataracts
b. end stage renal failure
c. nephrocalcinosis

Answer

A

Renal failure

Question 36

Q

Picture of a newborn (unable to determine if male or female from picture) who has webbed neck, lymphedema at hands and feet, and hypertrophic cardiomyopathy. What is the most likely diagnosis?
a. XO
b. Noonans
c. Williams
——————–
Newborn who has webbed neck, lymphedema at hands and feet, hypertrophic cardiomyopathy (picture given- don’t think they told you if it was a girl or a boy)
a. X/O
b. Noonans
c. Williams
—————
Picture of dysmorphic child. Says baby has pedal edema, webbed neck, hypertrophic cardiomyopathy. What is diagnosis?
a. Noonan syndrome
b. Down syndrome
c. Turner

Answer

A

Noonan

Noonan more right sided heart defects: PS. Also has hypertrophic cardiomyopathy

Turners more left sided heard defects: bicuspic aortic valve, CoA

Question 37

Q

Symptoms of TEF, what is most likely to go with this?
a. Anal anomalies
b. Coloboma

Answer

A

Anal anomalies

Vertebral anomalies (hemivertebrae, small vertebrae)
Anorectal anomalies
Cardiac
TEF
Renal anomalies
Limb anomalies

Question 38

Q

## Hemivertebra girl. What next imaging?
Child is found to have incidental finding of hemivertebrae on CXR, what other investigations should be done?
a. MR of head
b. MR of spine
c. Abdominal ultrasound
d. Echo
———–
Infant with hemivertebrae. Test that should be done?
a. abdominal ultrasound
b. CT head
———–
An otherwise well child with a hemivertebra discovered on an x-ray. Investigation?
a. MRI head
b. MRI spine
c. abdominal ultrasound

Answer

A

AUS

Then ECHO

Question 39

Q

CBC abnormalities, short child, bifid thumb, café au lait spots, hypopigmented lesions
a) schwachman diamond
b) fanconi anemia
c) Dyskeratosis congenita

Answer

A

Fanconi anemia

Question 40

Q

A newborn baby is found to have choanal atresia. What other findings would be consistent with this?
A. Heart and Coloboma
B. Anal and spine abnormalities
C. neural tube defects
———-
[repeat]12. A newborn has choanal atresia – what other features do you look for?
A. Keyhole pupil and murmur
B. Failure to pass orogastric tube + imperforate anus
C. Omphalocele and cleft palate
D. Wide spaced nipples + webbed neck

Answer

A

Heart and coloboma
Keyhold pupil + murmur

Coloboma
Heart defects
Atresia of choanae
Retardation of growth +/ dvlpt
GU defects
Ear anomalies

Failure to pass orogastric tube (TEF) + imperforate anus = VACTERL

Omphalocele + cleft palate = BWS

Wide spaced nipples + webbed neck = Turner’s

Question 41

Q

A single umbilical artery is associated with which anomalies
a. Renal anomalies
b. Cardiac
c. pulmonary
—————
What’s associated with single umbilical vessel:
a. renal anomalies

Answer

A

Renal anomalies

Most with single UA have no co-existing anomalies
20-30% have congen anomalies of CNS, CVS, GU, GI

Question 42

Q

An infant is diagnosed to have double outlet right ventricle on echocardiogram. The baby also presents with left eye coloboma and hypertelorism. What is the diagnosis?
a. Alagille Syndrome
b. Noonan’s
c. Williams’ Syndrome
d. DiGeorge Syndrome

Question 43

Q

9 month old with irritability. Has had microcephaly since birth, also has bitemporal narrowing, bilateral epicanthal folds, thin upper lip, cleft palate, 2-3 toe syndactyly
a) Fetal alcohol syndrome
b) Angelman
c) Smith-Lemli-Opitz
d) Trisomy 18

Answer

A

Smith-Lemli Opitz

Question 44

Q

5 mo with white forelock, 1 iris blue 1 brown. What next investigation would you do?
a. Renal ultrasound
b. Hearing test
c. Echo cardiac
d. Cranial ultrasound

Answer

A

Hearing test

Waardenburg syndrome
White hair, wacky eyes, what did you say?? SNHL

Question 45

Q

What maternal condition is most associated with agenesis of the sacrum and some vertebrae:
a. maternal diabetes

Answer

A

Maternal diabetes

Caudal regression syndrome

Impaired development of caudal (lower) half of body - lower back + limbs, GU, GI
1 in 350 IDM

IDM babies

LGA
Puffy, plethoric facies
Cardiac malformations: ASD, VSD, TGA, TA, DORV, CoA
Cardiomegaly
Lumbosacral agenesis
Neural tube defects
GU defects

Question 46

Q

Baby with delayed meconium passage, abdo distension and calcifications on AXR
a. Hirschprungs
b. CF
c. duodenal atresia

Answer

A

CF

80-90% of infants with meconium ileus have CF
Only 10-15% of infants with CF present with meconium ileus

Question 47

Q

V-shaped upper lip and myotonic girl, how do you get the diagnosis?
a) DNA

Answer

A

DNA test for abN expansion of CTG or CCTG repeat

Myotonic muscular dystrophy
V-shaped upper lip, preserved DTR + myotonia

Question 48

Q

A 6 yo girl with precocious puberty symptoms (vaginal bleed, accelerated growth), multiple Cafe Au Lait, bone abnormalities. What to test to order?
a. Genetic test for NF1
b. Echo for rhabdomyoma
c. Screen for other endocrinopathy

Answer

A

Screen for other endocrinopathy

McCune-Albright

Note: ECHO for rhabdomyoma is tuberous sclerosis

Question 49

Q

4 month girl with FTT. Has the following bloodwork. What’s the most likely diagnosis?
Gas: pH 7.24, CO2 30, HCO3 16 ***Q
BW: Na 138, Cl 111, K 5, PO4 2.1, glucose 4
a. Fanconi syndrome
b. RTA
c. Mitochondrial disorder
d. CF

Answer

A

RTA normal AG metabolic acidosis, hyperchloremia

Fanconi syndrome = proximal tubular dysfunction
Phosphaturia, glucosuria (normal plasma glucose), aminoaciduria,

Question 50

Q

6. Children with turners have which renal abnormality at rates higher than healthy population?
A. horseshoe kidney
B. MCDK
C. Vesicoureteral reflux
D. …

Answer

A

Horseshoe kidney

Question 51

Q

7. Newborn found to have cardiac rhabdomyoma. What syndrome is this associated with?
Tuberous Sclerosis
NF-1
-----------
[repeat]14. An infant is diagnosed antenatally with a cardiac rhabdomyoma. What is the most likely diagnosis?
A.     NF1
B.     TS
C.     WAGR
D.     Beckwith Weidemann

Answer

A

Tuberous Sclerosis

Question 52

Q

Kid with multiple café au lait macules. The remainder of your physical examination is normal. What is the MOST important next step in your management
a. MRI head
b. Ophthalmology consult
c. Look for scoliosis
d. Hearing test

Answer

A

Ophthalmology

Question 53

Q

TS, pattern of inheritance

a. Sporadic
b. AD
c. AR
d. X-linked

Question 54

Q

Mom with seizure disorder on carbamazepine. No prenatal care, no ultrasounds. Delivers a baby at term. Which is most likely in the baby:
a. Cleft lip and palate
b. Omphalocele
c. Heart defect
d. Neural tube defect

Answer

A

Neural tube defect

Valproate and carbamazepine increase risk of neural tube defects

Question 55

Q

Very sick infant with pH 7.49, pCO2 20s.
a) What is the category of metabolic disorder that would account for the baby’s presentation?
b) What is a test that can be ordered and provide quick confirmation of your suspicion?

Answer

A

A. Urea cycle defect b/c resp alkalosis

B. Plasma amino acids vs ammonia

Question 56

Q

A 3 week old presents with jaundice, hepatomegaly, and E. Coli bacteremia.
A) What is the diagnosis?
B) What is a screening test you would do?
C) What are two long term complications?

Answer

A

A. Galactosemia
B. RBC GALT activity
C. Ovarian failure with primary/secondary amenorrhea
Decreased bond density
DD
LD

Question 57

Q

Kid with rectal prolapse, mitral valve prolapse and joints hyperextensibility
A. Diagnosis?
B. 4 other causes of rectal prolapse

Answer

A

A. Marfan
B. Other causes
1. CF
2. Chronic constipation
3. Malnutrition
4. Diarrheal illnesses - intestinal parasites
5. Ehlers Danlos
6. Williams syndrome
7. Congenital hypothyroidism

Question 58

Q

5 genetic syndromes that are associated with leukemia

Answer

A

T21
Fanconi anemia
Shwachman-Diamond
Li-fraumeni syndrome
NF1
Noonan
Bloom syndrome
Diamond blackfan

Question 59

Q

Turner’s syndrome, name 5 future health problems

Answer

A

Fertility problems
Osteoporosis
UTIs
Learning disabilities
HTN
Scoliosis
Autoimmune thyroid disease
Celiac disease
SNHL
Depression
Metabolic syndrome

Question 60

Q

A 3 yo boy referred to you because of behavioural symptoms and a question of ADHD. Weight is at the 20th percentile, height is at the 50th and head circumference is at the 95th. (no comment on testicular size/characteristics). What is the diagnosis? He looks like this:

Answer

A

Fragile X

FMR1 DNA analysis for CGG triplet repeats

Question 61

Q

List 4 features of Rett syndrome.

Answer

A

Normal development ~1yo then regression of language + motor milestones
Acquired microcephaly
Repetitive hand-wringing movements, loss of purposeful + spontaneous use of hands
Sz
Gait ataxia

MECP2 mutation testing

Question 62

Q

Mother with DiGeorge Syndrome has a newborn baby. Cleft palate is noted on exam. What 3 investigations need to be done?

Answer

A

ECHO
Calcium level
Kidney U/S (recommended by AAP surveillance)
Hearing test
CXR for thymus + flow cytometry

Conotruncal defects (TOF, DORV, VSD, aortic arch abN)
Abnormal facies
Thymic hypoplasia -> T cell dysfunction -> immunodeficiency
Cleft palate
Hypocalcemia, hypoparathyroidism

Question 63

Q

You are called to see a newborn baby. She looks pale. She has a large, boggy are on her scalp that crosses over the sagittal suture. The pregnancy was unremarkable, other than the mother has a seizure disorder and was on dilantin. Her seizures were well controlled. The baby was born by SVD with mild vacuum assistance. What is the MOST LIKELY diagnosis?
What are 2 risk factors?

Answer

A

Subgaleal hemorrhage

Vacuum assisted delivery
Dilantin in pregnancy

Dilantin

cleft palate/lip, cardiac + GU anomalies
decreases Vit K clotting factors -> coagulation defects -> lifethreatening bleeding

Subgaelal hemorrhage
RFs
- LGA
- cephalopelvic disproportion
- vacuum or forcepts assisted delivery
- Vit K deficiency
- F8 or 9 deficiency
Monitor
- hypotension, anemia, hyperbili
- Typically resolves in 2-3wks

Question 64

Q

Child with bilateral hypoplastic optic nerves. What associated congenital anomalies could there be, and what 2 further investigations should you do?

Answer

A

A. Congenital anomalies

abnormal development of midline brain structures (e.g. corpus callosum agenesis, absent septum pellucidum)
pituitary hypoplasia

B. Further investigations

MRI brain
pituitary hormone screen (GH, FSH, LH, TSH, ACTH, cortisol, glucose, Prolactin)

Septo-optic dysplasis triad:

Hypoplasia of optic nerves
Abnormal development of midline structures (corpus callosum, septum pellucidum)
Pituitary hypoplasia

Rarely: recurrent sz, DD, abN movements

Answer 60

A

AD

Aortic root dilatation, MVP
Ectopic lentis
Spontaneous PTX

Answer 61

A

A. Physical features

Short stature
Low posterior hair line
Webbed neck
Broad chest with wide-spaced nipples
Cubitus valgus
Shorted 4th MCP
Streak ovaries
GU anomalies: double collecting system, horseshoe
Hypoplastic nails
Lymphedema

B. Cardiac

Bicuspid valve
CoA

Answer 62

A

GSD Type II - Pompe Disease

Present in first few mo
AR
Deficiency in acid maltase, which is responsible for degradation of glycoge in lysosomes

Hypotonia
Generalized muscle weakness
Bulbar weakness
Macroglossia
Heptomeglay
HYPERTROPHIC CARDIOMYOPATHY
ECG: high voltage QRS, shortened PR interval
ECHO: biventricular + septal hypertrophy

Answer 63

A

Alanto-axial instability
High risk airway due to macroglossia, obesity, hypotonia

DO NOT need ABx pppx for MVP

Answer 64

A

A. Alopecia areata
- T-cell driven autoimmune disorder
- NONscarring alopecia
- nail changes
 - atopy + other autoimmune diseases
B. Majority will have spontaneous resolution in 6-12mo. Initial hair with be thin + lighter coloured. Then replaced by typical hair.
Recurrences common.

Can consider topical or intradermal injections of corticosteroids.
May need methotrexate

Answer 65

A

FASD

If Hx of maternal alcohol use

1) Growth retardation
2) AbN facies
- short palpebral fissures
- increase intercanthal distance
- flattened face with short nose
- absent or hypoplastic philtrum
- bow-shaped mouth with thin upper lip
3) CNS abN
- soft/hard neuro signs
- microcephaly
- Cognitive
- Attention
- Memory
- Executive function
- Communication

Answer 66

A

Karyotype, XO
Cardiac: biscuspid valve, coA
RBUS: double collecting system, horseshoe kidney

Answer 67

A

ABCs. Monitors. IV. O2 as needed.
NPO
D10W with NS. High maintenance fluids
IV Na benzoate, Na phenlacetate

Brainscape's Knowledge GenomeTM

Genetics/Metabolics Flashcards

Brainscape's Knowledge Genome^TM