{"id":333,"date":"2024-01-17T19:58:27","date_gmt":"2024-01-17T19:58:27","guid":{"rendered":"https:\/\/spucnews.urgentcarepeds.org\/?p=333"},"modified":"2024-06-05T16:08:38","modified_gmt":"2024-06-05T16:08:38","slug":"case-report","status":"publish","type":"post","link":"https:\/\/spucnews.urgentcarepeds.org\/?p=333","title":{"rendered":"Case Report"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\"><strong>By Traci Downs-Bouchard MD and Joshua Prudent MD<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">It is a busy night at our Urgent Care, as usual. An hour before we are closing the nurse comes and alerts me about my next patient; she is concerned about this infant and ask that I see him as soon as possible. The patient is a 2 day old male recently discharged from the newborn nursery, here with his parents who are both in their early 20s and are Spanish speaking only. The infant was only discharged from nursery at noon, about 6-7hrs ago. I obtain the history with the use of an interpreter. The family note no pregnancy\/delivery\/nursery complications, nor any significant family history. They have brought their new infant to our Urgent Care because they were concerned that he had not been drinking well and was \u2018sleeping a lot\u2019 since the afternoon.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Discharge summary from Newborn Nursery available to me electronically:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Full-term, ~3kg at birth, weight loss was about -5% body weight at time of discharge.<\/li>\n\n\n\n<li>G1P1, late PNC\/ late TOC at 20weeks\u2014recent move from Georgia; Mom O+, infant O+\/DAT negative<\/li>\n\n\n\n<li>Induced vaginal delivery, APGARS 8 at 1 minute, 9 at 5 minutes,&nbsp;<\/li>\n\n\n\n<li>Unremarkable exam at discharge except mild facial jaundice; note of strong cry, easily consoled, normal sclera, normal facies, normal S1\/S2 w\/out murmur soft abd, testes descended bilaterally, normal tone\/reflexes<\/li>\n\n\n\n<li>Serum bili at 24hrs low-intermediate risk; 8.6 mg\/dL indirect, 0.4 mg\/dL direct<\/li>\n\n\n\n<li>Drugs abuse screen urine negative; negative GBS; negative serologies<\/li>\n\n\n\n<li>Passed otoacoustic emissions on left, right with recommended retesting; passed auditory brainstem response before discharge<\/li>\n\n\n\n<li>Direct breast feeding; evaluated by Lactation specialist prior discharge\u2014no issues noted, urged breastfeeding only and \u2018no formula\u2019<\/li>\n\n\n\n<li>Passed CCHD 99% pre\/post; received HepB\/vitamin K\/erythromycin<\/li>\n\n\n\n<li>Metabolic screening obtained and pending<\/li>\n\n\n\n<li>Discharge instructions: \u201cSchedule an appt ASAP for a visit in 2 days\u201d with PCP<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Initial Physical Exam in Urgent Care<\/strong><br>Initial vitals: Temperature 92 rectal RR in 30s-40s, HR 120-140,&nbsp; sats mid-90s<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">General Appearance: limp, dusky neonate, weak cry, shallow breaths, apneic episodes<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>HENT: Normal facies, atraumatic, flat fontanelle, normal external ear\/nose, dry mucous membranes, no nasal congestion\/rhinorrhea<\/li>\n\n\n\n<li>Eyes: Normal conjunctiva; PERRL<\/li>\n\n\n\n<li>Cardiovascular: Normal rate\/rhythm, normal S1\/S2 without murmur<\/li>\n\n\n\n<li>Pulm: Resp distress with shallow, strained breathing; no retractions; poor air movement throughout; no stridor, wheeze, rhonchi, or rales<\/li>\n\n\n\n<li>Abd: Soft, non-tender, no hepatosplenomegaly noted; umbilical stump clean, dry and intact<\/li>\n\n\n\n<li>MSK: No tenderness\/swelling; neck supple without rigidity<\/li>\n\n\n\n<li>Skin: Cap refill 2-3 sec, decreased skin turgor, mottled\/pale; no bruising<\/li>\n\n\n\n<li>Neurological: Low muscle tone throughout<\/li>\n\n\n\n<li>Labs in Urgent Care&nbsp;<\/li>\n\n\n\n<li>Unable to gain venous access due to dehydration<\/li>\n\n\n\n<li>POC BG from heal stick\u2014undetectable<\/li>\n\n\n\n<li>Repeated BG several times with different devices\/strips\u2014undetectable x3-4<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Urgent Care Course:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Immediate call to 911 for ambulance to transfer to nearest children\u2019s hospital<\/li>\n\n\n\n<li>Hypothermia noted\u2014Immediately placed on warmer<\/li>\n\n\n\n<li>Weak cry, floppy, brief apneic episodes&#8211; Stimulated with back\/chest rubs, blow-by supplemental oxygen administered.<\/li>\n\n\n\n<li>Dry mucus membranes, cap refill 2-3 sec, flat fontanelle\u2014Attempted peripheral IV placement, unsuccessful.<\/li>\n\n\n\n<li>Hypoglycemia\u2014Attempted oral gel after first undetectable BG, without improvement<\/li>\n\n\n\n<li>Intraosseous (IO) accesss obtained in left tibia, initially not drawing but flushing well, 5mL of D25% dextrose given, followed by 10mL Normal Saline bolus; attempt at 2<sup>nd<\/sup> NS bolus unsuccessful\u2014intraosseous access lost<\/li>\n\n\n\n<li>Right IO placed by 2<sup>nd<\/sup> provider\u2014Unable to flush or draw<\/li>\n\n\n\n<li>Ambulance arrives\u2014Local fire service, uncomfortably transporting such a young neonate in distress; need to wait for 2<sup>nd<\/sup> ambulance for additional EMTs for assistance in gaining access and stabilizing patient.<\/li>\n\n\n\n<li>By the time of 2<sup>nd<\/sup> ambulance arrival, neonate transitioned to assisted bag breathing to improve ventilation given worsening shallow breathing\/apneic spells. Infant taken to local Children\u2019s Hospital.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Brief Emergency Department summary:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Hypotensive, hypothermic, with apneic episodes in the emergency room<\/li>\n\n\n\n<li>Venous Blood gas suggestive of respiratory compensation for severe metabolic acidosis- pH 7.07, pCO2 23, pO2 71, HCO3- 7, BG 33, iCal 0.83, Na 146, K 6.6<\/li>\n\n\n\n<li>Full sepsis work-up performed and ammonia and lactate levels obtained; infant started empiric ampicillin, gentamicin and acyclovir.<\/li>\n\n\n\n<li>Infant given IV fluid resuscitation.<\/li>\n\n\n\n<li>Blood glucose initially 33 and 48 and improved after bolus to 112 and 135.<\/li>\n\n\n\n<li>Initial Laboratory values- Chemistries: Na 144, K 6.5, Cl 114, Bicarb &lt;5, BUN 32, Cr 1.29, GB 112; ALT 19<\/li>\n\n\n\n<li>Hemoglobin 8, normal platelets, differential 84% segs, 3% bands, normal lymphocytes, echinocytes present.<\/li>\n\n\n\n<li>CRP 1.4, procalcitonin- 0.8 (elevated)<\/li>\n\n\n\n<li>HSV, enterovirus, parecho, resp viral panel obtained\u2014ultimately resulted negative.<\/li>\n\n\n\n<li>Urinalysis (by catheterization): spec gravity &gt;1.030, 100 protein, 80 ketones, small bilirubin, trace blood, negative Leukocyte esterase\/nitrite\/WBCs<\/li>\n\n\n\n<li>Urine culture obtained\u2014later negative; Blood culture obtained\u2014later with resulted with staph epidermidis deemed contaminant.<\/li>\n\n\n\n<li>Ammonia level 400 and 352 (very elevated); lactate 1.1 (normal).<\/li>\n\n\n\n<li>Ultimately intubated, with f\/u CXR unremarkable except for tube placement<\/li>\n\n\n\n<li>Urine organic acids, serum amino acids, and carnitine profile\u2014ultimately would result days later with likely propionic acidemia.<\/li>\n\n\n\n<li>Admitted to NICU for emergent Continuous renal replacement therapy (dialysis) to clear ammonia.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Final Diagnosis and Urgent Care take home points:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Final diagnosis was Propionic acidemia with hyperammonemia causing metabolic acidosis, hypoglycemia, hypocalcemia, encephalopathy, and neonatal seizures.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Infant was admitted for 1 month until his metabolic irregularities could be stabilized. He was ultimately managed outpatient with a specialized formula, and medications to control metabolic derangements and seizures; a gastrostomy tube was placed prior to discharge to help with feeding and hydration. An MRI of the brain obtained prior to discharge was unremarkable for metabolic stroke.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Upon discharge, infant was scheduled to follow up with Genetics, Gastroenterology, Nephrology, Early Development, Cardiology and Ophthalmology to monitor for complications from propionic acidemia.<\/li>\n\n\n\n<li>Unfortunately, since his diagnosis, infant has had multiple subsequent admissions for seizures and metabolic crises, continues to have mild overall hypotonia\/gross motor delay, and still requires gastrostomy feeds.<\/li>\n\n\n\n<li>Propionic acidemia (PA) is an inherited metabolic organic acidemia and is caused by a deficiency of propionyl-CoA carboxylase (an enzyme made up of 2 subunits encoded on chromosomes 13 and 3); numerous mutations have been identified in the genes encoding both subunits. PA occurs in approximately 1 in 100,000 newborns.&nbsp;<\/li>\n\n\n\n<li>Affected patients often present in the neonatal period with poor feeding, vomiting, metabolic acidosis, floppiness, hypotonia and increasing lethargy, that can progress to apnea, similar to how our patient presented. Expanded Newborn screening has aided in diagnosis. Some patients have hepatosplenomegaly and seizures; less severe forms may present in later childhood with episodes of vomiting and failure to thrive. Complications are multisystemic and include neurodevelopmental delays, seizures, cerebral infarct, hypoglycemia, infection, cardiomyopathy, conduction abnormalities, pancreatitis, osteoporosis and secondary fractures.<\/li>\n\n\n\n<li>Diagnosis is made by measurement of organic acids in the urine by gas chromatograph-mass spectrometry, showing high concentrations of metabolites of propionyl-CoA. High ammonia concentrations can be seen secondary to inhibition of N-acetylglutamate synthesis through accumulation propionyl-CoA.<\/li>\n\n\n\n<li>Specific treatment of PA consists of a low protein diet-restriction to 8-12 grams\/day is recommended for the first three years, with a slow increase to 15-20 grams\/day by six to eight years of age. For infants this is often accomplished with a special formula, supplemented with an amino acid mixture, that does not contain isoleucine, methionine, threonine, or valine, as well as restricted odd-chain fatty acids and polyunsaturated fat. Antibiotics can be used to suppress gut bacteria and reduce propionic acid production. Liver transplantation is sometimes an option for patients with frequent and severe episodes of metabolic decompensation. Parents should be taught how to recognize early signs of metabolic decompensation.<\/li>\n\n\n\n<li>From an Urgent Care standpoint, we must recognize that although we are not an emergency room, critically ill patients will sometimes present to our clinical sites. Being prepared for emergencies is essential, including having all medical staff up to date in Pediatric Advanced life support, having minimal but necessary equipment for stabilizing such a patient, and having regular mock codes. Having an astute triage nurse who knows when to recognize a very ill infant and alert a provider- as did ours- can be critical in recognizing and managing such an infant.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>By Traci Downs-Bouchard MD and Joshua Prudent MD It is a busy night at our Urgent Care, as usual. An hour before we are closing the nurse comes and alerts me about my next patient; she is concerned about this infant and ask that I see him as soon as possible. The patient is a [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[33],"class_list":["post-333","post","type-post","status-publish","format-standard","hentry","category-uncategorized","tag-winter-2024"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Case Report - SPUC News<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/spucnews.urgentcarepeds.org\/?p=333\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Case Report - SPUC News\" \/>\n<meta property=\"og:description\" content=\"By Traci Downs-Bouchard MD and Joshua Prudent MD It is a busy night at our Urgent Care, as usual. 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