The septic appearing infant:The septic appearing infant:
approach and case discussionapproach and case discussion
Muhammad Waseem, MD Pediatric Emergency Medicine
Lincoln Hospital Bronx, NY
Another Sepsis Work-up
Early Discharge
New diagnoses in ED Inborn errors of metabolism Congenital anomalies
Septic-Appearing infant
ABCs Cultures & antibiotics “An ill-appearing infant is septic
until proven otherwise” but widen your differential
10-day-old-term infant drinking 3-4 oz at first
Decreased appetite & vomiting Sleepy
Case #1
“ill appearing” Flat fontanel Dry mucous membrane Enlarged liver Slight hypotonia
Glucose 25 40 (after correction)
Presents in first 2-3 week Septic-appearing Irritability or lethargy Vomiting
Hypotonia Hepatomegaly Hypoglycemia Breath odor Sweaty feet or stale urine
Coma Seizure Respiratory distress
The basic Approach to Inborn Errors of Metabolism
“limited repertoire” of symptoms Non specific Symptoms may overlap
E.coli sepsis (galactosemia) Clinically indistinguishable
High index of suspicionHigh index of suspicion
Clinical presentations Vomiting Lethargy Coma Seizure
Jaundice Odor
Body Urine
Inborn error of metabolism
Encephalopathy without acidosis Encephalopathy with acidosis Hepatic syndrome
IEM with No Acidosis
Maple Syrup Urine disease Urea cycle defects
IEM with acidosis
Organic aciduria Lactic acidosis
Hepatic Syndrome Galactosemia
Acute Evaluation
Glucose pH & HCO3
Electrolytes Ammonia Lactate Pyruvate
Ammonia level
Susceptible to artifacts Must be placed in ice Immediate processing < 80 mcg/dL Hundreds to thousands Readily traverses BBB Central hyperventilation
Urine Organic acids Amino acids Ketones Reducing substances
Hypoglycemia Acidosis Hyperammonemia
Hyperammonemia Urea cycle defects Organic acidemia Transient hyperammonemia of the
newborn
Diagnosis of hyperammonenia
OrganicAcidemias
Citrullinemia ArgininemiaArgininoscuccinic
acidemiaHHH
syndrome
OTCDeficiency
CPS deficiency or NAG synthetase
deficiency
Transienthyperammonemia
of thenewborn
low Normal or elevated
Plasma citruline
Normal or lowHigh
Urine orotic acid
No sAA elevation
Plasma AA
No acidosis
Blood gas
sAA elevation
Acidosis
Organic acid
Urea Cycle Defects
Early respiratory alkalosis Marked elevation of ammonia Abnormal plasma amino acids
AA NH3 Urea
Urea Cycle
Urea Cycle Defects
Ornithine-transcarbamylase (OTC) Carbamyl phosphate synthetase
(CPS)
Immediate transfer for hemodialysis
10% glucose & lipids 1 g/kg Minimal proteins
Essential amino acids (0.25 g/kg)
Sodium benzoate 250 mg/kg Hippuric acid
Sodium phenylacetate 250 mg/kg Phenylacetylglutamine
Organic Acidemia (OAs)
Methylmalonic acidemia Propionic acidemia Isovaleric acidemia
Severe acidosis Ketosis Hyperammonemia Seizures Unusual odor (urine)
Neutropenia Thrombocytopenia Urine organic acid
Hydration Glucose infusion Bicarbonate
Lactic Acidosis Small for gestational age Dysmorphic features Multiorgan disease Seizures
Lactate/pyruvate ratio Elevated anion gap Arterial specimen
Galactosemia Not manifest until galactose is
introduced Most formulas contain lactose No galactose in soy formulas
Vomiting Lethargy or irritability Feeding difficulties Poor weight gain Convulsion
Jaundice Hepatomegaly Hypoglycemia
Mental Retardation Hepatic Cirrhosis E. coli Sepsis
* Reducing substances in urine
* Must be done before transfusion
Phenylketonuria Phenylalanine hydroxylase Normal at birth Mental retardation
Gradual onset Vomiting
Fair skin Blue eyes Seborrhea or eczema Hypertonia Seizure
Guthrie test Phenylalanine 48-72 hrs After protein feeding
Maple Syrup Disease Decarboxylase Branched chain amino acids
Leucine (neurotoxic) Isoleucine Valine
Precedes screening test results Normal at birth First week May present as early as 24 hours
Feeding intolerance Lethargy Hypotonia Posturing Seizures
Typical odor Burnt sugar or caramelized sugar May not be prominent
Metabolic acidosis Late finding
Hypoglycemia No improvement after correction
Newborn Screening
Phenylketonuria Maple Syrup Urine Disease Galactosemia Homocystinuria Hypothyroidism Sickle cell disease Biotinidase deficiency HIV
Case #2
4-week-old-term infant presented fussy, crying & irritable
Vomited greenish material Tachycardia Slightly distended abdomen
Malrotation &Volvulus First 2 months Intense & constant pain
Crying, drawing up their knees Poor feeding
Bilious vomiting Abdominal distension
No distension in high volvolus
Case # 3
4-week-old presented fussy with decreased appetite
Cyanotic;does not respond to O2
Tachycardic Grunting respiration No hepatomegaly Normal Chest X-ray
Methemoglobinemia Uncommon cause of cyanosis Can be a cause of death
Ferric rather than ferrous Impaired oxygen binding of Hb
Hemoglobin M Hemoglobin reductase Drugs (benzocaine-Orajel) Idiopathic (70%) Symptoms depend on the
concentration of methemoglobin
10-30% Cyanosis 30-50% Tachycardia, fatigue 50-70% Lethargy, stupor >70% Death
Cyanosis without cardiac or pulmonary disease
Oxygen-unresponsive cyanosis Cyanosis out of proportion to
symptoms
Chocolate brown blood Pulse oximeter read 90s% Normal PaO2 despite cyanosis
< 30% Not needed 30-70% Methylene blue No response Hyperbaric O2
Exchange transfusion
Methylene blue 1 mg/kg IV 10 ml 1% ampule (10 mg/ml) Reduce methHb to hemoglobin Maximum effect in 30 minutes
Ineffective in G-6PD deficiency Hemolysis in G-6PD deficiency Alter the pulse oximeter reading
Case #4
7-day-old term infant Poky eater; eats and stops Crying & irritable after eating < 1 oz Acts hungry & wants to eat again
Bounding pulse in upper extremity Weak/or no pulses in lower
extremities
Congenital Heart Defects
First week
Hypoplastic left heart syndrome TGA TAPVR Coarctation of aorta
Coarctation of aorta VSD AV canal malformation
First month
Ductal dependent lesionsDuctal dependent lesions
Coarctation of aorta Hypoplastic left heart syndrome TGA
Tricuspid atresia Pulmonary atresia
with intact ventricular septum Critical pulmonary stenosis
Prostaglandin E1
0.3 X Kg = Number of mg to be added in 50 ml
0.5 ml/hr will deliver 0.05 microgram/kg/min
Recognize life-threatening conditions
Initiate therapy even before precise conditions
Prostaglandin E1 0.05 - 0.1 microgram/kg/min
Apnea Bradycardia Hypotension Seizures Hyperthermia
Coarctation of Aorta
Decreased lower limb pulses Acute cardiovascular collapse Differential cyanosis
TGA
5% of all CHD Aorta from RV Pulmonary artery from LV
Ductus closure minimal mixing of the systemic &
pulmonary blood via foramen ovale Hypoxemia
Cyanosis Tachypnea Murmur may be absent “Egg on a stick appearance”
Hypoplsatic left heart
Both cyanotic & acyanotic 25% of all cardiac deaths in 1st wk
Pallor Tachypnea Poor perfusion
grayish blue color Poor to absent peripheral pulses
No murmur Hepatomegaly Metabolic acidosis
Case # 5
6-week-old-full-term-infant Irritability & poor feeding few days
During feeding Pallor & breathlessness
Irritable Crying-not consolable HR 160, R 50, T 990 F Intermittent grunting O2 saturation 97%
Pale, cool extremities Clear lung fields Palpable liver 4 cm 4 extremities pulse & BP equal
Anomalous Origin of LCA
Pulmonary Artery Low pressure Desaturated blood
Myocardial ischemia
2 weeks to 6 months Restlessness, irritability Incessant crying Dyspnea Pallor & sweating (> feeding)
Congestive cardiac failure Tachypnea Tachycardia Cardiomegaly Hepatomegaly
Q-wave in I, aVL & left precordium Persistent ST-elevation T-wave inversion
Case # 6 6-day-old girl, lethargic Vomiting all night Extremely irritable Enlarged clitoris with local hairs
Adrenal Hyperplasia Inborn errors of adrenal steroid Acute salt-losing crisis
2 - 5 weeks Ambiguous genitalia
21-hydroxylase deficiency 90% of all cases 1 in 15,000 live births
Male Appears normal at birth Sexual precocity appears in 6 months Large phallus Dark skin & mucous membrane
Female Enlarged clitoris Labial fusion Virilization
Electrolytes Low Na+
High K+
Glucose
Adrenal steroid profile 17-hydroxyprogesterone Markedly elevated Obtain before hydrocortisone
administration
Fluid & Electrolyte replacement Urgent 20 ml/kg Normal Saline
Hydrocortisone 25 mg IV bolus 50 mg/m2/24 hours
Hyperkalemia Far better tolerated Volume restoration Insulin & glucose contraindicated
3-year-old previously healthy girl Breathing fast 6 vomiting in 2 hours Lethargic
Case # 7
T 100.30 F, HR 156, R 60 Clear lung fields Glucose 69
Na 144 K 6 Cl 110 Urea 27
pH 7.45 PCO2 12 HCO3 8 Base deficit 12
Salicylate level 98 mg/dl
Salicylate poisoning Tachypnea & respiratory alkalosis Metabolic acidosis Fever Seizure Coma
Case # 8 15-month-old girl- fever & vomiting Sleepy but arousable Lethargic Intermittent cry followed by
vomiting
RUQ tenderness Scant bowel sounds Guaic negative stool
Intussusception Sudden onset Triad
Vomiting Colicky abdominal pain Heme-positive stool (“currant jelly”)
Target sign Soft tissue mass with 2 concentric
circles of fat density Absence of cecal gas & stool Loss of visualization of tip of liver Paucity of bowel gas (RLQ)
Normal abdominal radiographs do not rule out intussusception
3 months to 6 years 80% under 2 years Male:female 4:1
Adenoviruses (spring) Rotaviruses (summer) Rotavirus vaccine
Fluid resuscitation is important All patients are hypovolemic
Barium enema Diagnostic & therapeutic
Air enema Increased success Lower complications & radiation
Child Abuse
Intracranial hemorrhage Inconsistent history High index of suspicion
Take home messageTake home message The “septic appearing infant” is
septic until proven otherwise but think beyond!
Key to diagnosis is high index of suspicion
“Eyes can not see what the mind does not know”