Order that Karyotype!!
(Genetics)
You Took What?
( Emergency Toxicity)
Page Dr. Sanchez
(Metabolic)
Look what I can Do!!!(Growth/Development)
Name that Character and their diagnosis
100
4 yo Male with: intellectual disability large head long face with large ears macroorchidism (after adolescence) hyperextensible joints
What is Fragile X syndrome: - unstable CGG repeat in FMR1 gene on X chromosome - 30% of carrier females have a similar clinical phenotype - normal phenotypic male can transmit the gene to his daughter
100
A child presents with acute acetaminophen ingestion and is found at 4 hours post- ingestion to have a toxic level What is the anti-dote?
What is N-Acetyl cysteine - most effective if given within 8 hours
100
A patient presents with: - Marfinoid habitus - Developmental Delays - Lens dislocation (downward and medial)
What is Homocystinuria - AR inheritance - IQ is low and the lens dislocate down (homocysteinuria) vs. IQ is high and lens dislocates up in Marfans
100
At what age should an infant be able to hold their head 90 degrees and lift their chest
What is 4 months
100
This man is on a mission the issue is he can't quite remember what. He has to check his tattoos.
Who is Leonard (or the movie name memento) and what is anterograde amnesia
200
A patient presents with long face, poorly formed ears, upward slanting palpebral fissures, ptosis and a beaked nose. You suspect WAGR syndrome. WAGR syndrome consists of what 4 abnormalities?
What is Wilms tumor, Aniridia, Genitourinary malformation, mental Retardation short arm of chromosome 11 (11p13) wilms tumor in 50% of cases most often by 3yo GU abnormalities normally hypospadias and cryptorchidism ALSO INCREASED RISK GONADOBLASTOMA - associated with PAX 6 and WILMS tumor 1 genes
200
It's winter and an entire family presents with: - headache - nausea lethargy - "flu-like symptoms" - pulse ox is normal
What is carbon monoxide poisoning - family in the winter (or during hurricane season with gas generators) - PaO2 on ABG and O2 sat are normal - diagnose by detecting carboxyhemoglobin levels on cooximeter - Tx: 100% O2
200
2 week old has fair hair and fair skin, compared to parents. She was born at home and was doing well till now - vomiting and irritability - eczematoid rash - "mousy" or musty odor
What is PKU (phenylkentonuria) - AR inheritance - phenylalanine cant be converted to tyrosine - enzyme defect in phenylalanine hydroxylase - phenylalanine builds up to toxic levels in brain and blood
200
Most common type of craniosynostosis
What is Scaphocephaly - premature closure of the midline sagittal suture - long narrow skull - 4:1 male predominance
200
This popular cartoon heroine suffers from severe mental illness. She is constantly collecting Gadgets and gizmos a plenty just because. And truly finds worth in others trash to the point she has an entire cave of it.
Who is Ariel and Hoarding (Disposophobia)
300
Newborn with: - "moon Facies" with widely spaced eyes (telecanthus) - down-slanting palpebral fissures - hypotonia - microcephaly - high arched palate - wide/flat nasal bridge - unusual cry like a cat whine
What is Cri-du-chat - 5p- deletion syndrome deletion of short arm chromosome 5 - classic cat's cry is secondary to anatomic changes of larynx
300
3yo child is seen to ingest some of her grandmothers blood pressure pills. She is somnolent, bradycardic, and hypotensive. Blood sugar is 55.
What is Beta blocker ingestion - CNS depression, bradycardia, hypotension, arrhythmia, and hypoglycemia - may give glucagon and supportive care
300
2 week old presents with concern for diapers. When they change diapers, they note there is a dark-brown or black pigment in the diaper looking like "brick dust"
What is alkaptonuria - deficiency of homogentisic acid dioxygenase (tyrosine metabolism) - asymptomatic till their 30s when they deposit pigment in their ears and sclerae called ochronosis
300
A 3 month old with severe combined immunodeficiency presents for his first set of immunizations. Which is contraindicated at this age
What is Rotavirus Vaccine
300
This fantastical candy maker truly has a fear of the outside world. His anxiety is so severe he locked himself in his place of business for multiple years shut off from the world.
Who is Willy Wonka and Agoraphobia
400
Name the MOST COMMON GI, cardiac, endocrine, and oncologic association with Downs syndrome
What is What is 1. Duodenal atresia or hirschprung 2. Endocardial cushion Defects (AV canal most common, VSDs, ASDs and tetralogy of fallot as well) 3. Hypothyroidism (screen at 3, 6 and 12 months) or DM in 20s-40s 4. ALL
400
Ingestion of which substance produces these signs and symptoms: - visual complaints - abdominal pain - high anion gap metabolic acidosis
What is Methanol Ingestion - blurry vision and photophobia are most common visual disturbances - Tx: ethanol or fomepizole to compete with and slow down methanol metabolism and supportive care
400
An infant is normal at birth but 3-5 days of life begins to have feeding difficulties, irregular respirations, and loss of the moro reflex. A tonic-clonic seizure is noted and prompts the family to bring the child in. You note a sweet smell from the urine
What is Maple syrup urine disease - CNS disease early in infancy - urine, hair, skin smells like maple syrup cannot catabolize the branched chain amino acids (valine, leucine, isoleucine) - Diagnostic TEST: alloisoleucine in blood
400
A child receives the MMR vaccine and experiances joint pain 10 days after the vaccine. Which component is likely responsible
What is rubella Common adverse SE of MMR include - fever >103 - rash occurring 6-12 days post vaccination - joint pain 7-21 days post vaccination (normally adolescents)
400
This popular detective has hyper-keen observational skills that do not extend to social cues. He has quirky personality traits and obsessive compulsive rituals.
Who is Sherlock Holmes and Autism spectrum disorder
500
A newborn with the following: - ocular hypertelorism - prominent glabella - frontal bossing - microcephaly - beaked nose - short philtrum - hypotonia - seizures
What Is Wolf-Hirschhorn syndrome 4p- deletion most common in girls "greek helmet facies" (ocular hypertelorism, prominent glabella, frontal bossing)
500
Patient appears intoxicated with slurred speech and drowsiness - tachypnea, cyanosis, pulmonary edema - renal failure - calcium oxalate crystals in urine - high anion gap metabolic acidosis
What is Ethylene Glycol (antifreeze) ingestion - Tx: fomepizole and ethanol - monitor cardiac function and maintain airway
500
An infant presents with encephalopathy and you notice the odor of "sweaty feet"
What is isovaleric Acidemia - AR inheritance - chromosome 15 - defect isovaleryl-COA dehydrogenase
500
How old is this girl: She can: run well, climb up and down stairs 2 feet each step, balance on 1 foot for 2-3 seconds, dress herself (except buttons in back), use 3 word sentences
What is 3 years old at 4 they can hop on 1 foot and use 4 word sentences at 5 they can skip
500
This creepy killer started the horror film genre and also had an interesting relationship with his mother
who is Norman Bates and Multiple Personality disorder
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