Rett syndrome

Disease Description (Causes and Symptoms)

• Definition: Reye syndrome is a systemic disease that occurs acutely, mainly in children, during or immediately after recovery from viral infections such as influenza or chickenpox. It is characterized by microvesicular fatty degeneration of the liver (mitochondrial dysfunction) and acute cerebral edema.
• Pathophysiology (brief): Following a viral infection, mitochondrial dysfunction inhibits fatty acid metabolism in the liver, resulting in hepatocellular injury, hyperammonemia, and metabolic abnormalities, which lead to cerebral edema and impaired brain function.
• Major symptoms: Vomiting (repeated), lethargy·stupor·coma, behavioral changes (agitation·hallucinations), seizures, abnormal liver function (jaundice is uncommon), hypoglycemia·metabolic acidosis. Symptoms may progress rapidly within hours to days.

Treatment Methods and Precautions

• Basic principle: There is no specific treatment, and intensive supportive care in an intensive care unit is essential.
• Acute treatment (standard approach)
  • Secure the airway, breathing, and circulation; use a ventilator if necessary.
  • Management of increased intracranial pressure (cerebral edema): Elevate the head (30°), limited hyperventilation (temporarily), osmotic decompression therapy (mannitol or hypertonic saline); hypothermia therapy remains controversial.
  • Correction of hypoglycemia: Administer IV glucose (immediately).
  • Seizure treatment: Standard anticonvulsants such as benzodiazepines.
  • Correction of coagulopathy: Vitamin K, fresh frozen plasma (if necessary).
  • Consider hemodialysis/continuous renal replacement therapy (CRRT) in cases of severe hyperammonemia or rapid deterioration.
• Additional management: Monitor liver function·electrolytes·ABG·ammonia·coagulation tests; assess cerebral edema with brain imaging (CT/MRI); consult with neurology and the pediatric intensive care team if necessary.
• Medication precaution: Aspirin (salicylates) is known to increase the risk of Reye syndrome when used during viral illnesses in children; therefore, use for fever reduction·pain relief in children aged 16 years or younger is recommended to be prohibited (or cautiously prohibited).
• Prognosis: Mild cases may fully recover within several days, but severe cerebral edema·coma increases the mortality rate and may result in neurological sequelae after recovery.
• Complication monitoring: Persistent brain injury (cognitive·motor impairment), liver failure, shock, multiorgan failure.

Checkpoints Before an Outpatient Visit (Including Items to Prepare and Sample Questions)

• Items to prepare (recommended to bring)
  • List of currently used medications (including OTC medications such as fever reducers; specify whether aspirin is being taken)
  • Recent history of fever/infection and onset date (e.g., chickenpox, influenza), and a record of when symptoms began and how they progressed
  • Copies of recent test results, if available (liver function tests, blood glucose, ammonia, coagulation tests, etc.)
  • A record of whether seizures·changes in consciousness occurred (number of episodes, duration)
• Checkpoints before the outpatient visit
  • Confirm any history of taking aspirin or salicylates
  • If acute symptoms such as vomiting·decreased consciousness·seizures occur, immediate emergency room evaluation is recommended (assess for an emergency before an outpatient visit)
• Examples of information to tell the doctor in advance at the outpatient visit
  • Whether there was a recent viral infection (chickenpox·influenza) and details of its treatment
  • The times and doses of aspirin and other medications taken
  • Family history (metabolic diseases, sudden death in childhood, etc.)

Examples of General Questions to Ask the Doctor

• What are the expected side effects of this medication (or treatment)?
• What is our child’s prognosis (likelihood of recovery, risk of complications)?
• What are the criteria for hospitalization·intensive care treatment?
• What is the possibility of brain injury, and what is the plan for long-term follow-up?
• What are the guidelines for prevention (e.g., vaccination) or future use of fever reducers?

Examples of Disease-Specific Questions

• My child has taken aspirin (or salicylates); based on this, are additional tests (e.g., ammonia, liver tests, organic acid·acylcarnitine tests) needed?
• Should our child undergo differential testing for fatty acid oxidation disorders or other metabolic abnormalities (e.g., inherited metabolic disorders)? (Particularly important when there is a family history or abnormal test results)