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Recurrent acute encephalopathy due to fatty acid metabolic defect--report of two cases
Insights
Inherited metabolic diseases can mimic Reye's syndrome in infants. Fatty acid metabolism defects should be considered in children presenting with recurrent Reye-like symptoms, especially with hyperammonemia.
Area of Science:
- Biochemistry
- Pediatric Medicine
- Genetics
Background:
- Reye's syndrome is a rare but serious condition.
- Some inherited metabolic diseases can present with symptoms similar to Reye's syndrome.
Purpose of the Study:
- To describe two cases of Reye-like syndrome in infants.
- To highlight the potential role of inherited metabolic diseases, specifically fatty acid metabolism defects, in the etiology of Reye-like syndrome.
Main Methods:
- Case report of two infants presenting with Reye-like syndrome.
- Clinical evaluation including blood tests (lactate, ammonia, glucose), liver function tests.
- Biopsies of liver and muscle for histopathological examination, including electron microscopy of liver mitochondria.
Main Results:
- Both patients developed Reye-like syndrome at 7 months of age, with symptoms including conscious disturbance, hepatomegaly, impaired liver function, hyperammonemia, and nonketotic hypoglycemia.
- Blood lactate levels were normal; liver and muscle biopsies showed macrovesicular fatty change.
- Mitochondrial abnormalities were observed in liver cells (increased matrix density in patient 1, stacked cristae in patient 2).
- Recurrent episodes of hyperammonemia and Reye-like symptoms were noted in both patients throughout infancy and early childhood.
Conclusions:
- Fatty acid metabolic defects should be strongly considered in the differential diagnosis of infants and children presenting with recurrent Reye-like syndrome.
- Early diagnosis and intervention are crucial for managing these metabolic disorders and preventing severe outcomes.
Abstract:
An increasing number of reports indicate that patients with some inherited metabolic diseases may have symptoms resembling those of Reye's syndrome. We describe 2 patients who developed Reye-like syndrome at the age of 7 months respectively. Conscious disturbance, hepatomegaly, impaired liver function, hyperammonemia, and nonketotic hypoglycemia were noted during acute episode. Blood lactate level was normal in both cases. Liver and muscle biopsy of both patients showed macrovesicular fatty change. Increased density of matrix in hepatocyte mitochondria was noted in patient 1. Stacking of cristae was shown in patient 2. The first patient had another episode of hyperammonemia at 2 years of age. The second patient was admitted three more times due to recurrent vomiting and conscious change at the age of 7 months, 10 months and 13 months respectively. Fatty acid metabolic defect should be considered in children or infants with recurrent Reye-like syndrome.