Genetics/Metabolics Flashcards
- 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
Chromosome analysis
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
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
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
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
- 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
CBC +smear
TO evaluate for TMD + polycythemia
- 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
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
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
ABR before D/C
ECHO need to do but by 1mo of age
- 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
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
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
Feed frequently Q3H
Prevent hypoglycemia
(If this baby was sick then D10 infusion)
Disorder of long-chain FAOD
- Fatty Acid Oxidation Defect. What is the most common presentation
a) Intractable Seizures
b) Coma
Most common presentation: acute episode of life threatening coma and hypoglycemia induced by period of fasting
- 4 m.o. male with cardiomegaly, sepsis-like picture and hypoglycemia
a. inborn error of metabolism
b. Sepsis
c. CHD
IEM
I think it’s hard to link CHD to hypoglycemia
- 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
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.
- 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
?? 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)
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
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
- 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
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
- Child with respiratory alkalosis, encephalopathic, showing subtle signs of increased ICP
a. Maple syrup urine disease
b. organic acidemia
c. UCD
UCD
- 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
IEM
- 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
IV glucose
- 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
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.
- 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
?? encephalopathy preceding focal neuro deficit
- Metabolic condition associated with chronic liver disease?
a. MCAD
b. OTC
c. MSUD
d. PKU
—————–
What disorder has chronic liver dysfunction?
a. PKU
b. MSD
c. OTC deficiency
d. MCAD
?OTC
- 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
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
- 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
Alcohol
- 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
Klinefelters
Tall
Delayed puberty
Learning difficulties
- 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
Fragile X
- 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
Russell silver
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
MRI brain
To r/o foramen magnum compression b/c this is significant risk factor for sudden death
- 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
Proximal limb shortening (rhizomelic)
- Which of the following is inherited in an autosomal dominant fashion?
a. G6PD
b. Hereditary Spherocytosis
Hereditary Spherocytosis
G6PD is X linked
- 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
Recurrence risk is minimal
Can only say 50% if mother is known to be affected
Tuberous sclerosis
- 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
Autosomal dominant
Marfan
- What is the most common cause of sensorineural hearing loss?
a. Hyperbilirubinemia
b. Genetic
c. CMV (did NOT say congenital)
d. Recurrent otitis media
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
- 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
Cytogenetics
- 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
FISH for 22q11
- 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
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
Kid w hemihypertrophy, what would you do?
a. Renal u/s
Renal U/S
Beckwith-Wiedemann
- 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
Renal failure
- 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
Noonan
Noonan more right sided heart defects: PS. Also has hypertrophic cardiomyopathy
Turners more left sided heard defects: bicuspic aortic valve, CoA
- Symptoms of TEF, what is most likely to go with this?
a. Anal anomalies
b. Coloboma
Anal anomalies
Vertebral anomalies (hemivertebrae, small vertebrae) Anorectal anomalies Cardiac TEF Renal anomalies Limb anomalies
- ## 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
AUS
Then ECHO
- CBC abnormalities, short child, bifid thumb, café au lait spots, hypopigmented lesions
a) schwachman diamond
b) fanconi anemia
c) Dyskeratosis congenita
Fanconi anemia
- 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
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
- 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
Renal anomalies
Most with single UA have no co-existing anomalies
20-30% have congen anomalies of CNS, CVS, GU, GI
- 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
Digeorge
- 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
Smith-Lemli Opitz
- 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
Hearing test
Waardenburg syndrome
White hair, wacky eyes, what did you say?? SNHL
- What maternal condition is most associated with agenesis of the sacrum and some vertebrae:
a. maternal diabetes
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
- Baby with delayed meconium passage, abdo distension and calcifications on AXR
a. Hirschprungs
b. CF
c. duodenal atresia
CF
80-90% of infants with meconium ileus have CF
Only 10-15% of infants with CF present with meconium ileus
- V-shaped upper lip and myotonic girl, how do you get the diagnosis?
a) DNA
DNA test for abN expansion of CTG or CCTG repeat
Myotonic muscular dystrophy
V-shaped upper lip, preserved DTR + myotonia
- 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
Screen for other endocrinopathy
McCune-Albright
Note: ECHO for rhabdomyoma is tuberous sclerosis
- 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
RTA normal AG metabolic acidosis, hyperchloremia
Fanconi syndrome = proximal tubular dysfunction
Phosphaturia, glucosuria (normal plasma glucose), aminoaciduria,
6. Children with turners have which renal abnormality at rates higher than healthy population? A. horseshoe kidney B. MCDK C. Vesicoureteral reflux D. …
Horseshoe kidney
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
Tuberous Sclerosis
- 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
Ophthalmology
TS, pattern of inheritance
a. Sporadic
b. AD
c. AR
d. X-linked
AD
- 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
Neural tube defect
Valproate and carbamazepine increase risk of neural tube defects
- 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?
A. Urea cycle defect b/c resp alkalosis
B. Plasma amino acids vs ammonia
- 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?
A. Galactosemia B. RBC GALT activity C. Ovarian failure with primary/secondary amenorrhea Decreased bond density DD LD
- Kid with rectal prolapse, mitral valve prolapse and joints hyperextensibility
A. Diagnosis?
B. 4 other causes of rectal prolapse
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
- 5 genetic syndromes that are associated with leukemia
- T21
- Fanconi anemia
- Shwachman-Diamond
- Li-fraumeni syndrome
- NF1
- Noonan
- Bloom syndrome
- Diamond blackfan
- Turner’s syndrome, name 5 future health problems
- Fertility problems
- Osteoporosis
- UTIs
- Learning disabilities
- HTN
- Scoliosis
- Autoimmune thyroid disease
- Celiac disease
- SNHL
- Depression
- Metabolic syndrome
- 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:
Fragile X
FMR1 DNA analysis for CGG triplet repeats
- List 4 features of Rett syndrome.
- 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
- Mother with DiGeorge Syndrome has a newborn baby. Cleft palate is noted on exam. What 3 investigations need to be done?
- 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
- 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?
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
- Child with bilateral hypoplastic optic nerves. What associated congenital anomalies could there be, and what 2 further investigations should you do?
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
- Male with Marfan syndrome.
What is the inheritance?
What are three non-orthopedic complications that cause major morbidity?
AD
- Aortic root dilatation, MVP
- Ectopic lentis
- Spontaneous PTX
- Turner syndrome
a) List 5 physical features on exam:
b) List 2 associated cardiac anomalies:
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
- 6 month-old baby, normal at birth, now presenting with macroglossia, hypotonia and cardiomegaly. ECG shows large QRS voltages. What is the diagnosis (be specific).
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
- A 5 year old with Down’s syndrome is now going for dental surgery. He has a history of congenital heart disease with residual mitral valve prolapse. What is important for this child to consider (name two things)
- Alanto-axial instability
- High risk airway due to macroglossia, obesity, hypotonia
DO NOT need ABx pppx for MVP
- A child with Downs has circular patches of hair loss with normal skin on the scalp.
a) What is the most likely diagnosis?
b) What do you expect the outcome to be?
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
- 6 month male being adopted. Picture shown of child with short epicanthal folds and indistinct filtrum. Diagnosis?
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
- Family physician calls you about term neonate who weighs 2300 g. Neonate has lymphoedema, low set hair line and wide chest.
A. What test would you send for diagnosis? What result would you expect?
B. List two additional investigations that should be done in this neonate and their expected findings.
- Karyotype, XO
- Cardiac: biscuspid valve, coA
- RBUS: double collecting system, horseshoe kidney
- A 3 day old male with lethargy, decreased LOC. Serum NH3 found to be >400. List 3 management steps.
- ABCs. Monitors. IV. O2 as needed.
- NPO
- D10W with NS. High maintenance fluids
- IV Na benzoate, Na phenlacetate
