Hx: 9 day old female presents with mom due to poor feeding. Mom notes that the patient was doing well and breastfeeding with bottle supplementation until yesterday when feeding declined rapidly. After midnight, there has been no feeding and no urine output. Mom denies any fever or other abnormalities except for a pale color to the patient’s skin noted this morning, leading to presentation in the ED.
PMHx/Birth Hx: Birth history includes a term c-section with no surgical complications. The patient spent 2 days in the hospital without any abnormalities noted. Pre-natal care was spotty as mom is not from the US and received screening in her home country. This is the 3rd child and c-section was elected due to history of prior c-section only. Mom was HIV negative, GBS positive, and STI negative. Note is made of the possibility of a fetal arrhythmia but none is noted at time of deliver or during the first two days of life. Newborn screens were normal.
SocHx: intact family. Healthy siblings x 2
- Vital Signs: 160 pulse, RR 62, temp 96.5 F (35.8 C) rectal, RR 33 in 15 min. , sat 100% RA , no BP initial
- General: awake, opens eyes spontaneously. Quiet.
- Skin: pale appearing. no rash. dry.
- HEENT: soft fontanel, flat; normocephalic; normal external auditory canals; normal mouth and tongue; Eyes intermittently open with reactive pupils, normal sclera.
- Resp: lungs clear bilaterally, no wheezes, no stridor.
- Cardiac: tachycardia, regular, no murmurs, cap refill 3 seconds at fingertips and toes, extremities are cool.
- Abdomen: soft, normal BS, non-distended.
- Extremities: Cool, no bony abnormalities, normal tone.
- Neuro: Startle reflex intact. Root intact. Suck is weak. Grasp weak but symmetrical. Moves 4 extremities normally.
- Sepsis – uti, pneumonia, meningitis
- Diaphragmatic disruption or congenital abnormality
- Cardiac valvular congenital abnormality
- Great vessel transposition or other ductus aretrioussus dependent lesions
- Inborn error of metabolism
- Bedside glucose 181
- ABG 7.109/ PCO2 25.3/PO2 213/HCO3 8/Potassium 6.2
- WBC 13.8 (nl up to 20 in neonate), HGB 11.8, HCT 35.1 mildly low, PLT 245, diff 41 seg neut, 2 band neut, 47 lymph, 8 mono, 2 atypical lymph, all nl.
- Na 135, K 6.7, CL 107, CO2 <5.0, BUN 18, Cr 0.7, Glucose 326, Ca 9.4 (nl), TP 5.3 g/dl (low), ALB 2.9 g/dl (low), AST/ALT/Alk Phos/TBili nl
- UA nl
- CXR nl
- ECG ST, RAD, RVH, rate 194, QT 221, QTc 398, QRS 167
- Echo: Structuraly normal heart, LV EF15%, dilated RV and LV, moderate TR and MR, normal coronaries.
ED & Hospital Course:
- Blood glucose 181 on arrival
- Immediate IV access is initiated but takes a significant time to obtain.
- CXR, UA, cultures, antibiotics given
- Initial differential is focused on sepsis
- Fluid bolus
- Respiratory work of breathing increases and patent is placed on high flow cannula
- ECG performed
- Consideration is given for prostaglandin administration for possible ducal dependent lesion.
- Echo at bedside shows normal great vessels and normal coronories. However, ther is a dilated cardiomyopathy ith EF 15%
- Transfer to ICU
- Continuous core temp monitoring and continued warming.
- Second IV access obtained in saphenous vein
- Sodium bicarbonate given
- Epinephrine infusion started for low BP and to increase cardiac contractility
- Repeat ABG shows some improvement in acidosis ABG 7.23/HCO3 10
- Intubation is undertaken for increasing respiratory distress
- Air transport to pediatric heart center
- Milranone is initiated
- Day #4 shows significantly improved EF with no identifiable causes for cardiomyopathy discovered yet.
Dx: cardiogenic shock, dilated cardiomyopathy
Neonatal distress presents dramatically and an organized approach to resuscitation is important as multiple etiologies on a differential diagnosis are excluded. The typical differential for this type of presentation should include:
- congenital viral infection
- ductal dependent heart disease
- congenital adrenal hyperplasia
- possible drug withdrawal
- inborn errors of metabolism
Management is often undertaken without benefit of a final diagnosis, as is the case for all emergency department patients. In this case, focus is placed on:
- fluid resuscitation
- ventilator y support
- treatment of hypoglycemia (if present)
- bicarbonate administration for severe metabolic acidosis.
- empiric antibiotics for neonatal sepsis
- reversal of hypothermia
Further management is guided by the results of diagnostic testing as they return. This case highlights the step-wise progression through the resuscitation of the critically ill neonate.
Neonatal dilated cardiomyopathy can occur as a result of fatty acid oxidation disorders, organic acidemias, and mitochondrial disorders (oxidative phosphorilation). Recommended screening includes:
- Plasma acylcarnitine profile. (See ‘Acylcarnitine profile’ above.
- Quantitative plasma carnitine levels. (See ‘Other’ above.)
- Qualitative urine organic acid analysis. (See ‘Urine organic acids’ above.)
- Serum lactate and pyruvate levels. (See ‘Lactate and pyruvate’ above.)
- Skeletal muscle biopsy for routine examination, electron microscopy, and mitochondrial enzyme stains. A frozen tissue sample should be kept for electron transport chain studies to be used in the diagnosis of mitochondrial disorders.