Pediatric emergency medicine trisk 2420 2420
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Psychosis
Personality changes
Behavioral disturbances
Depression
Obsessive compulsive disorder
Delirium, hallucinations, schizophrenia
Biochemical disturbance
Acidosis—chronic or acute recurrent
Hyperammonemia with or without alkalosis
Hypoglycemia with or without ketonuria, hypoketosis
a Findings
may be in isolation or combination and may be either intermittent or progressive over time.
Clinical Considerations
Triage
IEM should be considered in any neonate or infant who is critically ill without known etiology.
IEM can present at any age with recurrent syndromes (stupor, lethargy), failure to thrive, unusual
odors, or unexplained neurologic findings.
Assessment
History. Poor feeding, frequent vomiting, failure to thrive, lethargy in the morning before feeding or with
delayed feeding, intractable seizures, hypothermia, or acute life-threatening events are common
presentations of acute decompensation episodes. Unusual dietary preferences, particularly protein or
carbohydrate aversion, or the waxing/waning of episodic symptomatology may indicate possible IEM in
an otherwise healthy child. Physiologic stressors such as fasting, fever, illness, trauma, or surgery may
precipitate symptoms, especially if the stressor induces a catabolic state. Intercurrent infection may result
in decompensation out of proportion to the illness. A history of multiple hospitalizations for lethargy and
dehydration with improvement following intravenous (IV) fluids and glucose is common. Psychomotor
developmental delay, especially with loss of milestones, is also concerning for an IEM.
Certain findings suggest particular categories of IEMs. Vomiting occurs with many IEMs but is a
prominent feature of organic acidemias and urea cycle defects. Lethargy progressing to coma is common
with amino acid disorders, organic acidemias, urea cycle defects, fatty acid oxidation defects, and certain
disorders of carbohydrate intolerance. IEM should also be considered in any child with unexpected,
unexplained sudden death, even without other history suggestive of IEM. Cerebral edema is particularly
common in maple syrup urine disease and disorders with elevated ammonia or severe hypoglycemia.
Rapid deep breathing resulting in respiratory alkalosis is a hallmark of urea cycle disorders while
metabolic acidosis is more commonly seen in organic acidemias.
