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Health Science

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Nov 24, 2024

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Pertinent Positives Pertinent positives for this case include sweet-smelling wet diapers and decrease in number of wet diapers, poor feeding habits, weak suck, abnormal sleeping patterns, one deceased sibling, born vaginally at home, lives on a farm, and siblings not vaccinated. Pertinent positives noted in the objective data set are temperature: 99.7 F, tachycardiac, murmur noted, increase respirations with nasal flaring, lethargic, sunken eyes, pale skin, laying on table in “fencing” pose, sweet smell on otoscope when removed from ear canal, hypoactive bowel sounds, poor muscle tone, and poor muscle strength. Pertinent Negatives Pertinent negatives for this case are born at 38 weeks, no complications at birth, infant not exposed to tobacco use, drug use, or alcohol use during pregnancy, breast fed infant, 3 living siblings without any developmental or medical problems, no known allergies, no medical problems noted with parents, unremarkable subjective data noted by mother expect concerns with sleep, urine, and eating habits. Pertinent negatives in objective data set include no masses or tenderness to abdomen, testes descended with no inguinal hernia noted, normal findings with eyes, normocephalic, no rash or lesion, oropharynx, and neck. Additional Information I would like to find out additional information on if any test or screenings were done at birth or has the mother noticed any vomiting with the newborn. I would also like to do more assessment on the parent and grandparent medial history as well as a more intense neurological exam that is not noted in the objective data set. Differential Diagnosis Differential diagnosis for this case includes maple syrup urine disease (MSUD), urea cycle disorder, and viral infection. Urea cycle disorder results from hyperammonemia from the body’s inability to detoxify waste to urea and they present with symptoms of lethargy, irritable, and feeding problems (Gaarzon Maaks, 2020). Sweet smelling urine is not usually seen with urea cycle disorder and a component that makes me rule out urea cycle disorders. An upper respiratory viral infection is suspected given the elevated temperature, tachycardia, and respirations difficulties with nasal flaring. Given the more intense symptoms noted with these patients, it is evident that the patient is suffering with a diagnosis that is more than an upper respiratory viral infection. MSUD is an inherited genetic disorder that affect infants a few days to weeks after birth (NHS, 2021). MSUD can cause life threatening complications. I suspect it is possible that the deceased sibling also had MSUD that lead to death that went undiagnosed. Infants with MSUD have high levels of leucine, isoleucine, and valine which are amino acids that the body are unable to break down. Infants with MSUD present with symptoms of sweet-smelling urine, lethargy, breaking problems, poor feedings or suck, and vomiting (NHS, 2021). These symptoms correspond with the case study and is why I choose my primary diagnosis as MSUD.

Plan of Care Diagnosis: Maple Syrup Urine Disease Therapeutic: lifelong therapy with dietary changes with restriction in branched chained amino acids. For this case, the infant is in metabolic crisis, and I would send the patient to the emergency room for further evaluation. I suspect the patient should be started on intravenous fluids and glucose drip to reduce protein in the body (NHS, 2021). Education: Mother is breastfeeding and should eat low-protein diet and consumed low amounts of foods high in protein such as meat, fish, cheese, eggs, and nuts (NHS, 2021). Breast milk showed be pumped so it can be monitored and measured (NHS, 2021). Branched chained amino acids are found in foods like milk and soy proteins, beef, chicken, fish, eggs, beans, chickpeas, lentils, rice, nuts, and pumpkin seeds. Collaboration/Consultation: Refer to nutrition specialist for further education on low- protein diet. State or Federal Resources: Louisiana has a standard newborn screening panel that screens for 33 conditions seen in newborns. Below are two contacts for additional help for early interventions in Louisiana (Louisiana 2023). Louisiana Newborn Screening Program Phone: 504-568-8254 FAX: 504-568-8253 Email: Cheryl.harris@la.gov Louisiana Newborn Screening Program Website Links to an external site. Early Hearing Detection and Intervention Phone: 504-599-1086 FAX: 504-568-5854 Email: laehdi@la.gov Louisiana EHDI Program Website Links to an external site. Attached below is a website for MSUD support group for families. https://msud-support.org/ Links to an external site. Health Promotion: Health promotion for this case includes parent education on genetic counseling and newborn screening for any additional children they may wish to have. Education should also be given on hospital birth in the future for risk of complications with newborn born

to these two parents. Patient education also given on childhood immunizations. Also for health promotion, the family including children should be educated on importance of low protein diet for the new sibling as she grows the siblings may try to feed her food she can not tolerate. References: Garzon Maaks, D. L., Starr, N. B., Brady, M. A., Gaylord, N. M., Driessnack, M., & Duderstadt, K. G. (2020). Pediatric primary care . (7th ed.). Louis, MO: Elsevier. ISBN: 978-0-323-58196-7 Louisiana . (2023, March). Louisiana | Newborn screening. https://newbornscreening.hrsa.gov/your-state/louisiana NHS. (2021, September 20). Maple syrup urine disease . NHS choices. https://www.nhs.uk/conditions/maple-syrup-urine-disease/

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