Abstract
Pearson syndrome is a rare, usually fatal mitochondrial disorder involving the hematopoietic systemic in early infancy. We report a 20-months-old child admitted with persistent vomiting, prostration and hypotonia, which had started occasional vomiting since 18 months. Laboratory investigation revealed macrocitic anaemia, renal tubular acidosis, cholestasis. The mitochondrial DNA analysed from blood cells, muscle and liver samples, had a simple delection, that suggested Pearson Syndrome. The child died due to electrolyte disturbances related to her tubulopathy. This case emphasizes the importance of considering mitochondrial DNA disorder in patients with multisystemic symptoms that cannot be explained by a specific diagnosis.
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