Transcript Case follow up - PEM Database Online

The septic appearing infant:
approach 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
Case #1
 10-day-old-term
infant drinking 3-4
oz at first
 Decreased appetite & vomiting
 Sleepy
 “ill
appearing”
 Flat fontanel
 Dry mucous membrane
 Enlarged liver
 Slight hypotonia
 Glucose
25  40 (after correction)
Organic Aciduria
 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 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
Blood gas
Acidosis
No acidosis
Organic acid
Plasma AA
sAA elevation
No sAA elevation
Urine orotic acid
High
Normal or low
Plasma citruline
Organic
Acidemias
Citrullinemia Argininemia
OTC
Deficiency
Argininoscuccinic
acidemia
HHH
syndrome
low
Normal or elevated
CPS deficiency
Transient
or NAG synthetase hyperammonemia
deficiency
of the
newborn
Urea Cycle Defects
 Early
respiratory alkalosis
 Marked elevation of ammonia
 Abnormal plasma amino acids
Urea Cycle
AA
NH3
Urea
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
 Sodium
acid
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
 Elevated
ratio
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
 Normal
hydroxylase
at birth
 Mental retardation
 Gradual
 Vomiting
onset
 Fair
skin
 Blue eyes
 Seborrhea or eczema
 Hypertonia
 Seizure
 Guthrie
test
 Phenylalanine
 48-72
hrs
 After protein feeding
Maple Syrup Disease
 Decarboxylase
 Branched
 Leucine
chain amino acids
(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
 Late
acidosis
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%
 30-50%
 50-70%
 >70%
Cyanosis
Tachycardia, fatigue
Lethargy, stupor
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%
 30-70%
 No response
Not needed
Methylene blue
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
First month
 Coarctation
of aorta
 VSD
 AV
canal malformation
Ductal 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
 Poor
blue color
to absent peripheral pulses
 No
murmur
 Hepatomegaly
 Metabolic acidosis
Case # 5
 6-week-old-full-term-infant
 Irritability
 During
 Pallor
& poor feeding few days
feeding
& 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
 90%
deficiency
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
Na+
 High K+
 Low
 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
Case # 7
 3-year-old
previously healthy girl
 Breathing fast
 6 vomiting in 2 hours
 Lethargic
100.30 F, HR 156, R 60
 Clear lung fields
 Glucose 69
T
 Na
144
K 6
 Cl 110
 Urea 27
 pH
 PCO2
 HCO3
 Base
deficit
 Salicylate
7.45
12
8
12
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
 Air
& therapeutic
enema
 Increased
success
 Lower complications & radiation
Child Abuse
 Intracranial
hemorrhage
 Inconsistent history
 High index of suspicion
Take 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”