Please respond to two peers’ post regarding their differential diagnosis

 Please respond to two peers’ post regarding their differentialdiagnosis 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, demonstratecritical thinking and analysis and include peer-reviewed journalevidence to support the student’s position.

Please be sure to validate your opinions and ideas with citations andreferences in APA format.

**RESPONSE 1 TO N.B.***Positive Findings:

Three-day old with poor feeding habits, weak suckIncreased sleepingAppears lethargic, sunken eyes, pale skin, Laying on table in “fencing” posePoor tone and muscle strengthTip of otoscope sweet smell once removed from earVery few sweet-smelling wet diapersPE findings: mildly elevated temp (99.7 F), tachycardicVaginal birth at home5th percentile in weightInfant and siblings not vaccinatedFaint murmur detectedNegative Findings:

Born 38 weeks vaginally at home with no complications at birth orduring pregnancyInfant is breastfedNormal-length and head circumferenceMother denies tobacco, drug, and alcohol use during pregnancy.Lives with parents, siblings, and maternal grandparentsNo significant family, personal, social historyNo tobacco exposure in homeAll other PE findings unremarkableAdditional Information:

Is there any family history of metabolic disorder? Has the infanttolerated 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 fatalirreversible neurocognitive deficits (Hassan, 2021). Classicpresentation includes poor feeding and unusually sweet (maple syrup)odor to urine and cerumen.

Neonatal Diabetes Mellitus – is a rare metabolic disorder diagnosedwithin the first 6 months of life and presents as dehydration anduncontrolled hyperglycemia (Lemelman et al., 2018).

Inborn Errors of Metabolism – Inborn errors of metabolism are raregenetic (inherited) disorders in which the body cannot properly turnfood 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 formetabolic crises, lifelong therapy to maintain an acceptable diet; andlife-long maintenance of normal metabolic conditions including thelevels of the branched-chain amino acids (BCAA)in the body (NORD,2020). The patient must be placed on a protein-restricted diet thatlimits the amount of BCAAs they can eat. There is narrow window toensure the patient continues to receive enough food and protein fornormal growth and development and maintaining a therapeutic range. Thepatient may also be given thiamine to determine if the type of MSUD isresponsive.

State or Federal Resources

The patient’s parents should be given information about The MSUDFamily Support Group which can provide a wealth of informationregarding testing, treatment, and resource contacts.

Health Promotion Recommendations

The patient should receive newborn screening and be referred toemergency services. It is recommended that the children in this familybe 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


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


Siblings have no significant medical history


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?




Bicycling movement

Differential Diagnosis

Maple Syrup Urine Disease

Failure to Thrive


Priority Diagnosis Plan


Therapeutics – This patient will need to be transferred to a pediatricemergency room. Diagnostics include a multigene panel withdeletion/duplication analysis. BCKDHA, BCKDHB, and DBT. Breast milkshould be expressed and assessed for leucine quantity (Strauss et al.,2020). If levels are elevated, feeding can be transitioned to aBCAA-free powder version of infant formula. 10 mg/mL solutions ofisoleucine, valine, & leucine in distilled water can be used tomaintain leucine levels in a range of 65 – 85 mg/kg/day. IV glucoseand insulin and be given to regulate blood serum levels of necessaryBCAAs. Since the baby is not feeding well an NG tube will be insertedto deliver essential nutrients and hydration. By this pointdehydration and malnutrition are critical factors. Dialysis may beneeded to filter out toxic levels of the amino acids.

State or Federal Resources

NORD stands for National Organizations of Rare Diseases is anorganization that can help patients and their families withinformation and connecting to resources to help better understand andmanage a variety of rare diseases, including MSUD. The MSUD FamilySupport Group is a more specific community resource that is available.They have information on treatments and various stages of the diseaseprocess. More locally, the Florida Newborn Screening association canhelp connect parents to research, providers, continuing education, andmore resources. This can be a useful website for parents to connectwith to look up reliable information as their needs change with thebaby’s condition.

Health Promotion Recommendations

The parents should be counseled about their vaccine beliefs. Theyshould receive education about the importance of completing vaccineson the recommended schedule for their baby. Ideally, if they were ableto be swayed, their other children should be placed on an immunizationcatch up schedule as well. The parents need education about thedietary needs of their baby, ways to assess the mother’s breastmilk,continuing monitoring that will be needed, and ways to adjustnutrition based off the presenting signs and symptoms. Breastfeedingteaching regarding proper latching and supplements if milk productionis an issue.