FLK
This syndrome is likely to have the following characteristics: clenched fist, hypoplastic nails, prominenet occiput, rocker bottom feet, and horseshoe kidneys.
What is Edward Syndrome (Trisomy 18)
Infants with this inborn error of metabolism appear normal at birth until their first exposure to lactose, then they present with poor feeding and failure to thrive.
What is galactosemia.
Diag- Urine reducing sugars (glu, gal, fru). Confirm by assaying the enzyme in RBCs.
-Risk for E-coli sepsis
This is the recommended amount time frame in which the Hepatitis B vaccine should be administered to a newborn who's mother is Hep B antigen +.
What is within 12 hours.
-Give Ig at separate site.
If mothers status is unknown, give HepB vaccine, test mother and give Ig within 7 days if results are positive.
This infection is associated with a rash that starts on the wrists, ankles, palms and soles and spreads centrally. It may also present with fevers, myalgias, confusion, or hyponatremia.
What is Rocky Mountain Spotted Fever.
2nd MC vector-borne illness Most case occur in the SW U.S (dog tick), Northern Rock Mountain (wood tick). Can cause severe vascular obstruction > DIC.
DOC: Doxycycline for any age (best outcome if start within 5 days of illness)
At this age, if a neonate lacks visual attention/fixation, it is a red flag.
What is 2 months.
-Does not alert to voices
-Cannot raise head when prone
This syndrome is associated with the following features: hypospadias, omphalocele, macroglossia, macrosomia, hypoglycemia, hemihypertrophy
What is Beckwith Wiedemann Syndrome
This disorder is usually asymptomatic for a few months and when not treated/diagnosed, will ultimately present with severe vomiting, irritability, eczema, or a musty/mousy odor of the urine. If left untreated, it ultimately leads to profound intellectual disability.
What is phenylketonuria (PKU).
As per the AAP recommended vaccination schedule, this is the only live vaccine administered prior to 1 year of age.
What is Rota virus vaccine.
**(Yellow fever can be giving to bay travelers as early as 9 months to endemic areas)
**MMR for travel and PEP as early as 6 months but this DOES NOT count towards their schedule dose at 12 months)
This is the most common cause of bacterial gastroenteritis in the developed world.
What is Campylobacter Jejuni.
GN-bacilli. Supportive care is required.
Erythromycin or Azithromycin is indicated for dysentery
At this age, if a patient lacks 2-word meaningful phrases, it is a red flag.
What is 24 months. (50% words intelligible) Using more than 50 words
-Inability to follow simple commands
-Inability to walk well
-Does not imitate actions or words of care-givers. Poor eye contact
This syndrome is associated with the following features: developmental delay, profound speech impairment, ataxia, movement disorders, behavioral anomolies (frequent laughter, easy excitability, short attention span).
What is Angelman Syndrome
This disorder may present with hypoglycemia, distended abdomen, poor growth, large liver, elevated triglycerides/cholesterol and a doll-like face.
What is Von Gierke Disease (glycogen storage disease type I)
This is the earliest recommended age at which HPV vaccine can be administered.
What is 9 years.
2 dose series if giving before 15 years. 3 doses series if giving after.
In a disease where during the tertiary stage of the infection, a patient may develop gumma formation, cardiovascular involvement or CNS involvement, this is the treatment of choice.
What is Penicillin G.
At this age, if a patient lacks the ability to sit without support, and lacks reciprocal vocalizations or smiles, it is a red flag.
What is 9 months. (normally occurs by 7 months)
-Lack of babbling
-Lack of rolling
This syndrome is associated with the following features: Conductive hearing loss, a small jaw, ear abnormalities, lower eyelid abnormalities, normal intelligence and an autosomal dominant pattern of inheritance.
What is Treacher Collins.
This syndrome presents before age 2, and usually with symptoms of progressive facial coarsening, hirsutism, hepatosplenomegaly, thick skulls, corneal clouding, severe intellectual disability.
What is Hurler Syndrome (MPS Type I)
This is the minimum amount of time that must pass after live vaccine administration in order for a PPD test to be placed and be reliable.
What is 4 - 6 weeks.
This is the treatment of choice for a patient who presents with vague influenza-like symptoms including fever, night sweats, headaches, chest pains or muscle aches with recent travel to California, Arizona or Texas.
What is Amphotericin B, fluconazole or ketoconazole.
At this age, if a patient fails to turn to sound or voice and lacks a smile or joyful expressions, it is a red flag.
What is 6 months.
This syndrome is associated with the following features: small chins, cleft palate, micrognathia, posterior positioning of their tongues, extremity anomalies and about half of the cases have language delay, seizures, and developmental delay.
What is Pierre Robin Sequence
This is the pattern of inheritance for Hunter Syndrome (MPS Type II).
What is X-linked recessive.
Besides severe allergic reaction, this is the only absolute contraindication for administering a pertussis containing vaccine.
What is encephalopathy not attributable to another identifiable cause within 7 days of a previous dose of a pertussis containing vaccine
VZIG should be given to a newborn who's mother develops chickenpox between ___ days prior to delivery through ___ days after delivery.
What is 5 days and 2 days.
At this age, if a patient is unable to walk independently or lacks simple pretend play, it is a red flag.
What is 18 months. (Should be able to throw a ball, makes 4 cube tower, uses 10-25 words).
They should creep down stairs