A tenyearold boy is brought to clinic by his mother who states that the boy has been listless and not

A ten-year-old boy is brought to clinic by his mother who states that the boy has been listless and not eating. She also notes that he has been easily bruising without trauma as he says he is too tired to go out and play.
He says his bones hurt sometimes. Mother states the child has had intermittent fevers that respond to acetaminophen.
Maternal history negative for pre, intra, or post-partum problems. Child’s past medical history negative and he easily reached developmental milestones.
Physical exam reveals a thin, very pale child who has bruises on his arms and legs in no particular pattern. The APRN orders complete blood count (CBC), and complete metabolic profile (CMP). The CBC revealed Hemoglobin of 6.9/dl, hematocrit of 19
%, and platelet count of 80,000/mm3.
The CMP demonstrated a blood urea nitrogen (BUN) of 34m g/dl and creatinine of 2.9 mg/dl. The APRN recognizes that the patient appears to have acute leukemia and renal failure and immediately refers the patient to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his mother. The diagnosis of acute lymphoblastic leukemia
(ALL)
was made after extensive testing.
Question 1 of 2:
What is ALL?
—
QUESTION 2
A ten-year-old boy is brought to clinic by his mother who states that the boy has been listless and not eating. She also notes that he has been easily bruising without trauma as he says he is too tired to go out and play.
He says his bones hurt sometimes. Mother states the child has had intermittent fevers that respond to acetaminophen.
Maternal history negative for pre, intra, or post-partum problems. Child’s past medical history negative and he easily reached developmental milestones.
Physical exam reveals a thin, very pale child who has bruises on his arms and legs in no particular pattern. The APRN orders complete blood count (CBC), and complete metabolic profile (CMP). The CBC revealed Hemoglobin of 6.9/dl, hematocrit of 19
%, and platelet count of 80,000/mm3.
The CMP demonstrated a blood urea nitrogen (BUN) of 34m g/dl and creatinine of 2.9 mg/dl. The APRN recognizes that the patient appears to have acute leukemia and renal failure and immediately refers the patient to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his mother. The diagnosis of acute lymphoblastic leukemia
(ALL)
was made after extensive testing.
Question 2 of 2:
How does renal failure occur in some patients with ALL?
QUESTION 3
A
12-year-old
female with known sickle cell disease (SCD)
present to the Emergency Room
in sickle cell crisis.
The patient is crying with pain and states
this is the third acute episode
she has had in the last nine months. Both parents are present and appear very anxious and teary eyed.
A diagnosis of acute sickle cell crisis was made.
Appropriate therapeutic interventions were initiated
by the
APRN
and the patient’s pain level
decreased,
and she was transferred to the pediatric intensive
care
unit
(PICU)
for observation and further management.
Question 1 of 2:
What is the pathophysiology of acute SCD crisis and why is pain the predominate
feature of acute crises?
QUESTION 4
A
12-year-old
female with known sickle cell disease (SCD)
present to the Emergency Room
in sickle cell crisis.
The patient is crying with pain and states
this is the third acute episode
she has had in the last nine months. Both parents are present and appear very anxious and teary eyed.
A diagnosis of acute sickle cell crisis was made.
Appropriate therapeutic interventions were initiated
by the
APRN
and the patient’s pain level
decreased,
and she was transferred to the pediatric intensive
care
unit
(PICU)
for observation and further management.
Discuss the genetic
basis for SCD.
QUESTION 5
The parents of a
9-month
boy bring the infant to the pediatrician’s office
for evaluation of
a swollen right knee and
excessive bruising.
The parents have noticed that the baby
began having bruising about a month ago but thought the bruising was due
to the child’s attempts to crawl. They became concerned when the baby woke up with a swollen knee.
Infant up to date on all immunizations, has not had any medical problems since birth and has met all developmental milestones.
Pre-natal, intra-natal, and post-natal history of mother
noncontributory. Family history negative for any history of bleeding disorders or other
major genetic diseases.
Physical exam within normal limits except for obvious bruising on the extremities
and right knee. Knee is swollen
but no warmth appreciated. Range of motion of knee limited due to the swelling.
The pediatrician suspects the child has hemophilia
and orders a full bleeding panel workup which confirms the diagnosis of hemophilia
A.

Explain the genetics of
hemophilia.
QUESTION 6
The parents of a
9-month
boy bring the infant to the pediatrician’s office
for evaluation of
a swollen right knee and
excessive bruising.
The parents have noticed that the baby
began having bruising about a month ago but thought the bruising was due
to the child’s attempts to crawl. They became concerned when the baby woke up with a swollen knee.
Infant up to date on all immunizations, has not had any medical problems since birth and has met all developmental milestones.
Pre-natal, intra-natal, and post-natal history of mother
noncontributory. Family history negative for any history of bleeding disorders or other
major genetic diseases.
Physical exam within normal limits except for obvious bruising on the extremities
and right knee. Knee is swollen
but no warmth appreciated. Range of motion of knee limited due to the swelling.
The pediatrician suspects the child has hemophilia
and orders a full bleeding panel workup which confirms the diagnosis of hemophilia
A.
Question 2 of 2:
Briefly describe the pathophysiology of Hemophilia.
QUESTION 7
During
a routine
16-week pre-natal ultrasound, spina bifida
with
myelomeningocele
was detected
in the fetus.
The parents
continued the pregnancy
and labor was induced at 38 weeks
with the birth of a female infant with an obvious defect at Lumbar Level 2.
The Apgar Score was 7 and 9. The infant was otherwise healthy.
The sac
was leaking cerebral spinal fluid and the child was immediately taken to the operating room for
coverage of the open sac.
The infant
remained in the neonatal intensive care unit (NICU) for several weeks
then discharged home with the parents after a
prescribed treatment plan was developed and the parents were educated on how to care for this infant.
What is the
underlying pathophysiology of myelomeningocele?
QUESTION 8
During
a routine
16-week pre-natal ultrasound, spina bifida
with
myelomeningocele
was detected
in the fetus.
The parents
continued the pregnancy
and labor was induced at 38 weeks
with the birth of a female infant with an obvious defect at Lumbar Level 2.
The Apgar Score was 7 and 9. The infant was otherwise healthy.
The sac
was leaking cerebral spinal fluid and the child was immediately taken to the operating room for
coverage of the open sac.
The infant
remained in the neonatal intensive care unit (NICU) for several weeks
then discharged home with the parents after a
prescribed treatment plan was developed and the parents were educated on how to care for this infant.
Question 2 of 2:
Describe the pathophysiology of
hydrocephalus
in infants with myelomeningocele.
QUESTION 9
A
preterm infant
was delivered
at 32
weeks gestation and was taken to the NICU for
critical care management.
Physical assessment
of the chest and heart remarkable for a continuous-machinery type murmur best heard at the left upper sternal border
through systole and diastole. The infant had bounding pulses, an active precordium,
and
a palpable thrill. The infant was diagnosed with a patent ductus
arteriosus
(PDA).
Discuss the hemodynamic consequences of a PDA.
QUESTION 10
A
7-year-old
male
was referred
to the school psychologist
for
disruptive behavior in the classroom. The parents
told the psychologist that the boy has been
difficult to manage at home as well. His scholastic work
has gotten worse over the last 6 months and
he
is not meeting
educational
benchmarks.
His parents are also worried that he isn’t growing like the other kids in the neighborhood.
He
has been bullied by other children
which is contributing to his behaviors. The
psychologist suggests that the parents have some blood work done
to check for any abnormalities. The complete blood count (CBC)
revealed
a hypochromic
microcytic anemia. Further testing revealed the child had
a venous lead level of
21 mcg/dl (normal is <
10
mcg/dl). The child was diagnosed with lead poisoning
and it was discovered he lived in public housing that had not finished stripping lead paint from the walls and woodwork.
Question:
How does lead poisoning account for the child’s symptoms?
QUESTION 11
Emergency Medical Services (EMS)
was
dispatched
to a home
to evaluate the report of an unresponsive
3-month-old
infant. Upon arrival, the EMS
found
a frantic attempt by the presumed father to resuscitate an infant. The EMS took over and attempted CPR but was unable to restore
pulse or respiration. The infant was transported to the Emergency Room
where the physician pronounced the child dead
of Sudden
Infant Death Syndrome (SIDS). The distraught parents were questioned as
to the events surrounding the
discovery of the baby. Parents state
the child was in good health, had taken a full
6-ounce
bottle of formula
prior to being put down for the evening. The child had been sleeping through the night
prior to this. Parents stated the baby had had some “sniffles” a few days before and was taken to the pediatrician who
diagnosed the child with a mild upper respiratory tract
viral syndrome. No other pertinent history.
Question:
What is thought to be the underlying pathophysiology of
SIDS?
QUESTION 12
A
4-year-old
female
is brought to the
pediatrician by her mother who states the child has been running a fever to 102.0 F, has “pink eye”, and
that her tongue looks very bright red and swollen.
The mother states the fever has been present for 5 days,
noticed the child had developed a rash
and that the child’s legs look “puffy”.
No other
symptoms noted.
Past medical history noncontributory. All immunizations up to date.
Physical exam remarkable for current fever of 102.8 F,
bilateral
conjunctivitis without purulent material, oral mucosa
with
bright red
erythema, dry, with fissuring of the lips.
Legs noted to have peripheral edema
and are also erythematous. Palmar desquamation noted. There is fine
maculopapular rash and
+ cervical adenopathy. The presumptive diagnosis
currently
(pending
laboratory data) is Kawasaki Disease.
Question 1 of 2:
What is Kawasaki Disease and what is the pathophysiology?
QUESTION 13
A
4-year-old
female
is brought to the
pediatrician by her mother who states the child has been running a fever to 102.0 F, has “pink eye”, and
that her tongue looks very bright red and swollen.
The mother states the fever has been present for 5 days,
noticed the child had developed a rash
and that the child’s legs look “puffy”.
No other
symptoms noted.
Past medical history noncontributory. All immunizations up to date.
Physical exam remarkable for current fever of 102.8 F,
bilateral
conjunctivitis without purulent material, oral mucosa
with
bright red
erythema, dry, with fissuring of the lips.
Legs noted to have peripheral edema
and are also erythematous. Palmar desquamation noted. There is fine
maculopapular rash and
+ cervical adenopathy. The presumptive diagnosis
currently
(pending
laboratory data) is Kawasaki Disease.
Question 2 of 2:
How does Kawasaki Disease
cause
coronary aneurysms?
QUESTION 14
A
9-year-old
boy was brought to the Urgent Care Center by
his parents who state that the child had a sudden onset of difficulty catching his breath,
has a new cough and is
making a “funny sound” when he breathes.
The parents state there is
no prior history of
this,
and the child had not been ill prior to the start of the symptoms.
Past medical history noncontributory. No family history of respiratory problems. No known allergies to drugs or food. Physical exam positive for
respiratory rate of 26, use of accessory muscles,
with suprasternal retractions, heart rate of 132 beats per minute, an
audible
inspiratory and expiratory wheeze
noted,
and the pulse oximetry
is 89
% on room air.
After the APRN institutes appropriate urgent treatment, the child’s breathing slowly returned to normal,
vital
signs
normalize,
and
the pulse oximetry increases to 97
%. The APRN
suspects the child has asthma and
tells the parents that
they need to bring the child to a pulmonologist for further evaluation and care.
What is the underlying pathophysiology of asthma?
QUESTION 15
A
24-year-old
female with known
cystic fibrosis
(CF)
has been admitted
to the hospital for
evaluation for possible lung transplant.
She was diagnosed with
CF when she was
9 months old and has had multiple hospitalizations for pneumonia, respiratory failure, and small bowel obstructions. She currently is oxygen dependent
and has been told by her physicians
that she has end stage pulmonary disease secondary to CF.
The only recourse for her
currently
is lung transplant.
Question 1 of 2:
What is cystic fibrosis and
discuss the pathophysiology.
QUESTION 16
A
24-year-old
female with known
cystic fibrosis
(CF)
has been admitted
to the hospital for
evaluation for possible lung transplant.
She was diagnosed with
CF when she was
9 months old and has had multiple hospitalizations for pneumonia, respiratory failure, and small bowel obstructions. She currently is oxygen dependent
and has been told by her physicians
that she has end stage pulmonary disease secondary to CF.
The only recourse for her
currently
is lung transplant.
Question 2 of 2:
What is the reason people with CF are often malnourished?
—
QUESTION 17
A
14-year
old
girl
who was trying out for cheerleading
underwent a physical examination
by the APRN
who notices that the girl had
uneven hip height, asymmetry of the shoulder height, shoulder and scapular
prominence and rib prominence.
The rest of the physical exam was normal and the APRN referred the
girl to an orthopaedist for evaluation for possible scoliosis.
Radiographs in the orthopaedic office confirms the diagnosis of idiopathic scoliosis.
The
spinal
curve was measured at
26
degrees and it was recommended that the girl be fit for a
low-profile
back brace.
Question:
What is thought to be the pathophysiology of idiopathic scoliosis?
—
QUESTION 18
A
2-year-old
boy was brought to Urgent Care by his parents who state the boy has been
having large amounts of diarrhea, been
very irritable
and very pale. The parents noticed there
was blood
in the diarrhea
and
when
the
boy’s legs became swollen, they sought care.
Past medical history noncontributory
and all immunizations up to date.
Social history noncontributory and the child is in day care 5 days a week.
No known exposure to
other sick children and the only
new event the parents could think of is
the day care workers took the children to a local petting zoo about a week ago.
Physical exam revealed a pale, ill appearing child
with swollen legs, tender abdomen, and
petechia on
the legs and abdomen. The APRN suspects the child may have been exposed to a bacterium at the petting zoo and arranges for the patient to be transferred to the Emergency Room. There
the child was found to be in renal failure, have hypertension and was diagnosed with hemolytic uremic syndrome
(HUS).
Question:
What is the pathophysiology of HUS?
—
QUESTION 19
The parents of a
3-year-old
boy bring the child to the pediatrician with concerns that their child seems “small for his age”. The
parents
state that the boy has always been
small but
did not worry until the
child went to day care and they noticed other children of the same age were much bigger.
They also note that his teeth were very late in coming in.
Normal prenatal, perinatal and postnatal
history and no medical history on either side of family
regarding issues with growth and development.
Physical exam is normal except for short limbs and small teeth. The pediatrician suspects the child has
pituitary dwarfism. A complete laboratory and radiographic work up confirmed the diagnosis.
Question:
What is the pathophysiology of pituitary dwarfism?
QUESTION 20
A 4-year-old boy was brought to the Emergency Room by his parents with a suspected femur fracture. The parents state the child was
playing on the couch when he rolled off and cried out in pain.
There were no other
injuries noted. Review of the child’s chart revealed this was the 4th
Emergency Room visit in the last 15 months for fractures after low impact injury. The parents were suspected of child abuse and Child and Protective Services were consulted.
The APRN assessing the child noted that the child had unusually thin and translucent skin, poor dentition, and
blue sclera. The APRN suspects the child may have osteogenesis imperfecta
(OI).
Laboratory results revealed an elevated
serum alkaline phosphatase and the diagnosis
OI was made based on the clinical picture and elevated alkaline phosphatase.
Question:
What is the pathophysiology of OI?
—