Peds USMLErx review Flashcards
What are the physical manifestation of pseudohypoparathyroidism? (neuro, physical, labs)
- MR
- Short
- Spastic movements
- Short fingers
- Hypocalcemia
- Hyperphosphatemia
What is albright hereditary osteodystrophy?
a form of osteodystrophy, due to pseudohypoparathyroidism, characterized by hypogonadism, brachydactyly, choroid plexus calcifications, full cheeks, and hypocalcemic tetany
What are the classic s/sx of a FB ingestion?
- Choking/stridor
- Drooling
- Refusal to eat
What is the appropriate workup for a FB ingestion?
Neck, chest, and abdominal x-rays
What is the test used to diagnose HIV in an infant born to an HIV+ mother? Why?
HIV DNA polymerase chain reaction, because the usual ELISA will show positive for maternal antibodies,
What is the treatment for a Wilms tumor?
- Nephrectomy and chemo
- XRT added if there are mets
When do Wilms tumors usually present?
2-4 years of age
What are the symptoms of a Wilms tumor, if any?
- bone pain
- n/v/d
- polyuria/dysuria
- microscopic hematuria
What is the usual presentation of a SCFE?
Obese adolescent with painful, acute-o-chronic limp. Relieved by rest. Pain is often referred to the knee or groin, so lack of overt hip pain should NOT be reassuring.
Which is the more sensitive view for x-ray to diagnose a SCFE?
Lateral more sensitive than AP
What is the treatment for a SCFE?
Avoid weight bearing, and surgery
When should a child be able to tell a story from beginning through to the end?
5 years
What is the inheritance pattern of Duchenne’s muscular dystrophy?
XLR
What are the teratogenic effects of carbamazepine?(4)
- NTDs
- Fingernail hypoplasia
- IUGR
- Microcephaly
What is the classic presentation of coxsackievirus pharyngitis?
Grayish vesicles and ulcers on the posterior pharynx
Neuroblastomas arise from what cell type?
primitive sympathetic ganglion cells
What lab abnormality is classic for neuroblastomas (not specific for it, however)?
Elevated urine vanillylmandelic acid
What compressive symptoms can neuroblastomas cause in children?
Horner’s syndrome
What are the s/sx of a neuroblastoma?
- HTN
- Respiratory distress
- Horner’s
- periorbital bruising
- bone pain
What lab abnormalities can neuroblastomas cause?
-pancytopenia
What is the treatment for a neuroblastoma?
Surgical
What gene is amplified with neuroblastomas?
n-myc
A bilirubin level over what value is always pathologic in a neonate?
17 mg/dL
What are the five criteria for physiologic jaundice?
- Bili is less than 14 mg/dL
- Bili increases by less than 5 mg/dL/day
- During the first 3 days, the bili is less than 5
- at 7 days, in a full term infant, jaundice has resolved (14 days if premie)
- The conjugated bili is always normal
What is the classic presentation of Scarlet fever?
Raspberry tongue
Sandpaper-like rash
what is the treatment for scarlet fever?
PCN
What are the s/sx of necrotizing enterocolitis?
- Abdominal distention
- vomiting
- Melena
- lethargy
- Diarrhea
What is the preventative measure for NEC?
Breastfeedings
What amino acid becomes essential in pts with PKU? WHy?
Tyrosine, since their F hydroxylase enzyme (of THF cofactor) is no longer functioning to produce this AA
In whom are tetracycline contraindicated? Why?
Pregnant women or kids under 8 years
Risk of tooth discoloration, neurologic sequelae, and bone defects
What is the second line treatment for Lyme disease in pts who cannot take doxycycline?
Augmentin
What are the early clinical s/sx of a tracheoesophageal fistula?
- Foaming and drooling at the mouth
- Tympanic stomach
What is the treatment for impetigo?
Dicloxacillin
Bullous impetigo is classically caused by what infectious agent?
Staph Aureus
When is a LP indicated in the workup of a febrile seizure?
If suspected CNS infection, or if postictal
How can one distinguish between 11b and 21 hydroxylase deficiency?
11beta deficiency will still have some aldosterone effects present, so HTN and hypokalemia may exist
A wide, fixed split S2 is significant for what disease process?
ASD
True or false: if a patient taking methylphenidate develops twitching or tics, the medication should be stopped immediately
True
Which two infections classically cause erythema multiforme?
Mycoplasma
HSV
If ingestion of an OD of acetaminophen is at an unknown time, when should N-acetylcysteine be given? (3 criteria)
- If more than 150 mg/kg OD
- Serum concentration is above 10 micrograms/mL
- Lab evidence of hepatic damage
A h/o intussusception is a contraindication to what vaccine?
Rotavirus
What is the defect in homocystinuria, and what are the manifestations of this?
- Defect in cystathionine or methionine synthesis, leading to accumulation of homocysteine.
- Causes MR, FTT, osteoporosis, megaloblastic anemia, lens dislocation, and hypercoagulable state
If a child has significantly underdeveloped or absent lymphoid tissue, what disease process should be suspected?
SCID
What is the newborn screen for SCID?
T cell receptor excision circles
What molecule is classically elevated in sepsis?
Plasminogen activator inhibitor-1
What needs to be monitored with Rifampin use?
LFTs
What is the typical presentation of mastoiditis?
Erythematous, edematous area behind an auricle after a recent AOM. Drainage too.
Why do patients with 5alpha-reductase deficiency have ambiguous genitalia at birth, but at puberty develop a penis and testicles (more significantly)?
At puberty, there is upregulation of a second 5alpha-reductase isoform that finally provides the signal for virilization
Why is IGF-1 favored over GH for diagnosing GH deficiency?
GH is pulsatile and erratic, whereas IGF is more predictable
What is the first step in working up suspected precocious puberty?
Bone age scan
If a bone age scan is normal in the workup of suspected precocious puberty, what should be done? What if abnormal?
Normal = just follow as it is unlikely true puberty Abnormal = FSH/LH levels as this is likely pathologic
What are the presenting s/sx of Gaucher’s disease? (5)
- SGA
- Anemia
- Thrombocytopenia
- Ostalgia
- HSM
What is the classic bx finding of Gaucher’s disease? What is the enzymatic deficiency?
- Crinkled paper macrophages
- Glucocerebrosidase
What disease is characterized by a deficiency of alpha-galactosidase?
Fabry’s disease
What disease is characterized by a deficiency of arylsulfatase A?
Metachromatic leukodystriophy
What are the characteristic histological findings of Tuberous sclerosis?
Epithelioid cells, adipocytes, and blood vessels
What are the histological characteristics of Wilms tumors?
Abortive tubules and glomeruli
What are the histological characteristics of renal cell carcinoma?
Atypical polygonal cells with clear cytoplasm
What are the histologic characteristics of cardiac rhabdomyomas?
Cardiomyocytes with surrounding fibrosis
What are the clinical symptoms of GERD in a child under 1 year?
- Postprandial regurgitation
- Esophagitis (arching back, irritability)
- FTT
What is the treatment for GERD under 1 year?
- Small, frequent feedings
- upright position when eating
- Thickened feeds
What is the genetic defect in Chediak-Higashi syndrome?
Mutation in the LYST gene that encodes a protein needed for sorting of other proteins into endosomal compartments
What syndrome are pts with Chediak-Higashi syndrome prone to develop? What is the pathophys?
- Hemophagocytic syndrome
- Uncontrolled proliferation of activated histiocytes that secrete high amounts of cytokines.
- Pancytopenia, high fever, lymphohistiocytic infiltration of liver, spleen and lymph
What are the diagnostic criteria for JRA (JIA)?
Persistent inflammation in 2+ joints for 6+ weeks
What extraarticular symptom are pts with JRA (JIA) at risk of developing?
Blindness from chronic, asymptomatic uveitis
What should children with JRA (JIA) be screened for?
Uveitis since it may lead to blindness
What is the treatment for seborrheic dermatitis of the scalp (“cradle cap”)?
Topical emollients
What is the treatment for seborrheic dermatitis in locations other than the scalp?
Topical ketoconazole cream
What is the treatment for croup if the patient is in respiratory distress (that is not at risk for impending respiratory collapse)?
Nebulized racemic epi
What is the long term treatment for arrhythmias 2/2 ebstein abnormality?
Ablation
What is the test of choice to diagnose intestinal obstruction in the newborn? Why?
Upper GI series, since plain films are not sensitive or specific enough for possible malrotation
What are the s/sx of West syndrome (infantile spasms)?
- Sudden, severe myoclonic convulsions of the entire body (lightning attack)
- Nodding attack, (convulsions of the throat and neck flexors, causing the chin to jerk toward chest
- Salaam/jackknife - Flexor spasms with rapid bending of the head and torso forward, with simultaneous raising and bending of the arms while partially drawing the hands together in front of the chest and/or flailing
What are the classic EEG findings of infantile spasms (West syndrome)?
Hypsarrhythmia
Down syndrome is associated with what hematologic malignancy?
ALL
Chickenpox over what age increases the risk for complications, and thus necessitates treatment? What is the treatment?
13
Acyclovir
What is Landau-Kleffner syndrome?
Rare neurologic syndrome, characterized by the sudden or gradual development of aphasia and an abnormal EEG. LKS affects Broca’s area and Wernicke’s area. The disorder usually occurs in children between the ages of 3 and 7 years.
Is listeria gram negative or positive?
Positive
What is the most common cause of painless hematochezia in children?
Meckel’s diverticulum
What is the most common cause of death in pts with DMD?
Dilated cardiomyopathy
What are the relative complement levels in IgA nephropathy? Why?
Normal
C3 does not bind IgA