Please respond to two peers’ post regarding their differential
diagnosis list and/or plan.
What did you find interesting about their response?
How did their differential diagnosis list or plan compare to yours?
Do you agree with their plan and recommendations?
Responses need to address all components of the question, demonstrate
critical thinking and analysis and include peer-reviewed journal
evidence to support the student’s position.
Please be sure to validate your opinions and ideas with citations and
references in APA format.
**RESPONSE 1 TO N.B.***
Positive Findings:
Three-day old with poor feeding habits, weak suck
Increased sleeping
Appears lethargic, sunken eyes, pale skin, Laying on table in “fencing” pose
Poor tone and muscle strength
Tip of otoscope sweet smell once removed from ear
Very few sweet-smelling wet diapers
PE findings: mildly elevated temp (99.7 F), tachycardic
Vaginal birth at home
5th percentile in weight
Infant and siblings not vaccinated
Faint murmur detected
Negative Findings:
Born 38 weeks vaginally at home with no complications at birth or
during pregnancy
Infant is breastfed
Normal-length and head circumference
Mother denies tobacco, drug, and alcohol use during pregnancy.
Lives with parents, siblings, and maternal grandparents
No significant family, personal, social history
No tobacco exposure in home
All other PE findings unremarkable
Additional Information:
Is there any family history of metabolic disorder? Has the infant
tolerated breastfeedings? Was a newborn screening performed at birth?
Differential Diagnoses:
Maple syrup urine disorder (primary) – Maple syrup urine disorder
(MSUD) is a rare, inborn error of metabolism that can result in fatal
irreversible neurocognitive deficits (Hassan, 2021). Classic
presentation includes poor feeding and unusually sweet (maple syrup)
odor to urine and cerumen.
Neonatal Diabetes Mellitus – is a rare metabolic disorder diagnosed
within the first 6 months of life and presents as dehydration and
uncontrolled hyperglycemia (Lemelman et al., 2018).
Inborn Errors of Metabolism – Inborn errors of metabolism are rare
genetic (inherited) disorders in which the body cannot properly turn
food into energy (U.S. National Library of Medicine, n.d.).
Treatment Plan:
The infant should be hospitalized for evaluation and treatment.
Treatment should be aimed at immediate medical intervention for
metabolic crises, lifelong therapy to maintain an acceptable diet; and
life-long maintenance of normal metabolic conditions including the
levels of the branched-chain amino acids (BCAA)in the body (NORD,
2020). The patient must be placed on a protein-restricted diet that
limits the amount of BCAAs they can eat. There is narrow window to
ensure the patient continues to receive enough food and protein for
normal growth and development and maintaining a therapeutic range. The
patient may also be given thiamine to determine if the type of MSUD is
responsive.
State or Federal Resources
The patient’s parents should be given information about The MSUD
Family Support Group which can provide a wealth of information
regarding testing, treatment, and resource contacts.
Health Promotion Recommendations
The patient should receive newborn screening and be referred to
emergency services. It is recommended that the children in this family
be vaccinated against preventable diseases.
***RESPONSE 2 TO C.H.***
Pertinent Positives
poor feeding habits – weak suck
very few sweet-smelling wet diapers
1 bowel movements per day, dark in color
Poor tone and muscle strength
Laying on table in “fencing” pose
Tachycardic with murmur
Siblings and child not UTD on immunizations
Mennonites
sleeping more
Pertinent Negatives
Born at home at 38 weeks’ gestation
Vaginal birth without complications or trauma
Hypoactive bowel sounds
Negative for “hip click”
denies tobacco use, drug use, or alcohol use during pregnancy
Breastfed
Siblings have no significant medical history
NKDA
Lives with his mother, father, siblings, and maternal grandparents
Other Information to Obtain
What was the birth weight?
How long are the feedings?
Does the baby have any GI upset symptoms like gas, belching or vomiting?
How many hours a day does the baby sleep?
Irritability
Apnea
Opisthotonos
Bicycling movement
Differential Diagnosis
Maple Syrup Urine Disease
Failure to Thrive
Ketoacidosis
Priority Diagnosis Plan
MSUD
Therapeutics – This patient will need to be transferred to a pediatric
emergency room. Diagnostics include a multigene panel with
deletion/duplication analysis. BCKDHA, BCKDHB, and DBT. Breast milk
should be expressed and assessed for leucine quantity (Strauss et al.,
2020). If levels are elevated, feeding can be transitioned to a
BCAA-free powder version of infant formula. 10 mg/mL solutions of
isoleucine, valine, & leucine in distilled water can be used to
maintain leucine levels in a range of 65 – 85 mg/kg/day. IV glucose
and insulin and be given to regulate blood serum levels of necessary
BCAAs. Since the baby is not feeding well an NG tube will be inserted
to deliver essential nutrients and hydration. By this point
dehydration and malnutrition are critical factors. Dialysis may be
needed to filter out toxic levels of the amino acids.
State or Federal Resources
NORD stands for National Organizations of Rare Diseases is an
organization that can help patients and their families with
information and connecting to resources to help better understand and
manage a variety of rare diseases, including MSUD. The MSUD Family
Support Group is a more specific community resource that is available.
They have information on treatments and various stages of the disease
process. More locally, the Florida Newborn Screening association can
help connect parents to research, providers, continuing education, and
more resources. This can be a useful website for parents to connect
with to look up reliable information as their needs change with the
baby’s condition.
Health Promotion Recommendations
The parents should be counseled about their vaccine beliefs. They
should receive education about the importance of completing vaccines
on the recommended schedule for their baby. Ideally, if they were able
to be swayed, their other children should be placed on an immunization
catch up schedule as well. The parents need education about the
dietary needs of their baby, ways to assess the mother’s breastmilk,
continuing monitoring that will be needed, and ways to adjust
nutrition based off the presenting signs and symptoms. Breastfeeding
teaching regarding proper latching and supplements if milk production
is an issue.
