Fever, pain, oh my
Babies
Genetics potpourri
Dr. Check those labs!
Image this!
100

A 10 year old boy developed a rash about 3-4 days after getting several mosquito bites. He has a fever, body ache, headache and swollen lymph nodes. Last week mom saw him pick up a dead bird in the back yard.

What is West Nile Virus?

100

This scoring system is comprised of ...

but has no prognostic value beyond the immediate newborn period.

What is APGAR score?Color, heart rate, reflex, irritability, muscle tone, respiration's


100

A newborn baby has decreased tone, oblique palpebral fissures, big protruding tongue, short neck and Brushfield spots on his iris

What is DOWN SYNDROME, trisomy 21?

100

Pieces of DNA fragments that are extruded during intrathymic receptor gene rearrangement.

What is T cell receptor excision circles (TREC)?

absence of TRECs suggests profound T cell depletion.

100

3 day old newborn has still not passed meconium. Abdominal x-ray shows ground glass appearance. Lab test that classically is used to diagnosis this condition?

What is a sweat chloride test- cystic fibrosis with meconium ileus?

200

Baby was born with severe microcephaly, almost collapse skull and marked hypertonia.

What is Zika virus?

www.cdc.gov/zika/

200

This drug is NOT recommended as part of the initial resuscitative efforts in the delivery room for newborns with respiratory depression.



What is naloxone?

200

14 year old girl has no breast development, short stature and high FSH? What is the syndrome?

What is Turner's Syndrome , 45, X0?

200

High fever 5 days, Large prominent cervical lymph node, sclera erythema, cracked lips, rash and very high platelet count. This syndrome if untreated can cause serious changes to what

What is Kawaski syndrome? At risk for coronary artery abnormalities.

200

3 month old baby has colicky abdominal pain and currant jelly stool with a tender sausage shape mass in the right lower quadrant. What is the diagnosis?

What is intussusception? Air or barium enema may help or cure the intussusception.

300

After traveling to Key West Florida developed a headache, retro orbital pain, bone and joint pain,rash, fever and abdominal pain.

What is Dengue fever?

300

 Most common congenital infection in U.S.

Most common cause of non-genetic sensorineural hearing loss in children.



What is congenital cytomegalovirus?

300

Elfin-appearance, friendly, increased empathy and verbal reasoning ability. Deletion found on Chromosome 7. What cardiac association?

What is SUPRAVALVULAR AORTIC STENOSIS - associated with  WILLIAMS SYNDROME?

300

10 year old came to clinic after an infection. Now has a puffy edematous face in the morning, dark colored urine and noted to have high blood pressure. 

What is post streptococcal glomerulonephritis?

300

4 week old infant with non-bilous forceful vomiting after feeding and palpable “olive” mass on abdomen?

What is PYLORIC STENOSIS- ultrasound shows an elongated pyloric thick muscle?

400

 After traveling to Africa he developed shaking chills with general malaise ( a cold phase)  and then  a  very high fever, sweating, headache ( hot phase). a very deadly disease .

What is Malaria?

400

These  are abbreviations for action steps at newborn ventilation resuscitation when there is lack of chest rise.  

What is MR SOPA?

Mask Adjust mask on face, Reposition the head to open airway, Suction mouth then nose, Open mouth and lift jaw forward Pressure gradually increase pressure Artificial airway- ETT LMA


400

Hypotonia, hypogonadism, hyperphagia, skin picking, aggression. Syndrome?

What is PRADER WILLI SYNDROME?

400

One week old normal newborn male child developed  vomiting , lethargy. Labs show : hypoglycemia, hyponatremia, hyperkalemia, elevated hydroxyprogesterone and acidosis? Which enzyme has been affected?

What is CONGENITAL ADRENAL HYPERPLASIA (CAH) 21-hydroxylase deficiency ?

400

The most common form of extra pulmonary tuberculosis in children is known as

What is scrofula? 

Chest xray is often normal- 70% of the time.

History: rapid enlargement of a lymph node, high fever, tenderness and fluctuant mass. Tuberculin skin test is positive.

500

She recently traveled to Haiti a week ago and now developed sudden fever, sudden bilateral joint and has a rash on her hands.

What is "Chic" Chikungunya?

500

10 day old presented in ER due to poor breast feeding and significant weight loss from birth. He appeared lethargic , floppy, grossly dehydrated, standing skin folds and seizures. This specific term and what test would describes his dehydration.

What is hypernatraemic dehydration?

case presented Journal of Paediatics and Child Health- 2012. E.Staub and B. Wilkins.

Sodium=190mmol/L ( 135-145)


500

Holoprosencephaly, severe mental retardation, microcephaly, cleft lip/palate, polydactyly, rocker bottom feet. Rarely live past the first year.

What is trisomy 13- Patau syndrome?

500

LGA baby born to a diabetic mother is now jittery,cyanotic and poor feeding. You order a blood test.

What is hypoglycemia? Glucose was 30mg/dL

500

One year old new patient to you presents to your office with tachypnea and mom reports she has have intermittent cyanotic spells. You notice an asymmetrical appearance of the chest, with the right side significantly smaller than the left. A chest x-ray was ordered - abnormality noted. This syndrome is

What is scimitar syndrome? 

Chest xray shows a significant small right lung with a unique "resembles a curved Turkish sword, a scimitar," with a vertical radio graph shadow along the lower right cardiac border. hypoplasia right lung, right PA, pulmonary venous obstruction, sequestration of right lung-arterial supply from aorta.

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