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GCO570 - Midterm Questions and answers
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GCO570 - Midterm Questions and answers
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GCO570 - Midterm15y/o referred to genetics for hypermobility. Previously diagnosed with
✅✅
Autism. Noted to have macrocephaly, penile freckling, and hypermobile
joints - -PTEN Hamartoma Syndrome
GT: Sequencing PTEN gene
Referral: Oncology
Management:
- At 15 = ultrasound of thyroid
- Future = colon, kidney, and breast screening
27y/o male recently presented with unsteady gait, bradykinesia,
unresponsiveness, and decreased facial expression. Mild atrophy of the
✅✅
cerebrum and cerebellum was detected on brain MRI. -
-Early-Onset Parksinson's Disease; AD/AR (dependant on
age-onset)
GT: multi-gene panel
Referrals: Psychiatics
32-week premature delivery due to placental abruption with crash
C-section. Born to 33 y/o G1 P0 mother, who had history of gradual
onset of muscle weakness during the pregnancy. She had
polyhydramnios on ultrasound, but no other abnormal labs.
Male delivered due to no heart sounds or respirations. Apgars of 1.0.2.4
Hypotonic with no responsiveness to stimulation. Ultimately resuscitated,
✅✅
placed on respiratory support. Required G tube for feeding support and
eventually was able to go home on oxygen. - -Myotonic Dystrophy;
"floppy baby"; CTG repeats in DMPK gene; AD
More likely to expand from mom
GT: Repeat analysis
,Referrals: PT
3y/o female patient. Since birth she has been hypotonic and was behind
in her motor and speech milestones. During the appointment, you notice
the patient is having random eye movements and repeatedly thrusts her
head forward.
✅✅
You see that she has already been to Neurology and had an MRI which
showed a "molar tooth sign". - -Jourbert Syndrome; AR(30)/XL(1)
GT: Panel testing
4y/o patent recently referred for genetics evaluation due to the concern
for gross motor delay Patient had trouble learning to run. Parents have
✅✅
recently noticed he seems to tire more quickly than his peers and is
having trouble with stairs. - -Duchenne Muscular Dystrophy; DMD;
XL
GT: CMA/deldup analysis needed (majority)
Referral: CARDIO!
A 1.5 year old male presents to the hospital with a prolonged focal
seizure in the setting of a febrile illness. He had shaking of the left
hemibody lasting for 2 hours.
Family recently moved from out of state and had been given rescue
medications after he was diagnosed with "febrile seizures" at 7 months
of age. This is his 3rd hospitalization now for febrile status epilepticus.
Family reports prior work up including MRI and EEG in the past were
normal after his first seizure. No further work up has been pursued.
He's the product of a term pregnancy and delivery and was
developmentally normal until about 6 months when he started to fall
behind. He just started walking and has about 5 words.
, Recently family reports he will randomly jerk his whole body which is
✅✅
new over the past few months. This happens a few times per day. -
-Dravet Syndrome
GT: Panel
Referral: Neurology
Management: AAV Vector (1 time delivery) or ASO (anti-sense
oligonucleotide); no sodium blockers
A 2 year-old presents to the clinic with a known history of epilepsy for a
second opinion. She has multiple seizure types including initial onset of
convulsions at 5 months of age.
Currently her major seizure types include absence seizures (beginning
at age 1.5yo), myoclonic and atonic seizures. She has been on 5 anti-
seizure medications, but never obtained complete control.
She is the product of a term pregnancy and delivery however has had
global developmental delay and began walking at 20 months and still
has no words. There is concern for an underlying Autism Spectrum
Disorder, but she has not been formally diagnosed.
✅✅
Pediatrician has been concerned regarding a slowed head
circumference - -GLUT 1 Transported Deficiency; AD (most de
novo)
GT: normal blood glucose - low CSF glucose concentration + single
gene sequencing (SLC2A1)
Referral: Dietician
Management: Keto diet
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