MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke) - a Diagnosis Not to be Missed
N M Quinn1, G Stone1, F Brett1
1Departments of Paediatrics, Neurology and Radiology, Childrens University Hospital, Temple St, Dublin 1.
Abstract:
MELAS is a rare mitochondrial disorder. We report two cases in Irish males where the characteristics were evident, but the diagnosis not made for a considerable period of time. In one of the cases the symptoms were presumed secondary to prematurity. In the other the symptoms were presumed secondary to epilepsy and he had three respiratory arrests secondary to benzodiazepine administration. This report wishes to highlight MELAS as a differential diagnosis in paediatric patients who present with stroke.
Insights
Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke (MELAS) is a rare disorder. Delayed diagnosis in pediatric stroke patients can occur, emphasizing MELAS as a crucial differential diagnosis.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke (MELAS) is a rare genetic disorder affecting energy production.
- Early recognition is vital for appropriate management and improved patient outcomes.
Observation:
- Two cases of Irish males with MELAS are presented.
- Initial symptoms were misattributed to prematurity and epilepsy, leading to diagnostic delays.
- One patient experienced respiratory arrests due to benzodiazepine administration.
Findings:
- The study highlights diagnostic challenges in identifying MELAS in pediatric patients presenting with stroke.
- Delayed diagnosis can lead to prolonged suffering and potential complications.
Implications:
- MELAS should be considered in the differential diagnosis of pediatric stroke.
- Increased awareness can improve timely diagnosis and intervention for affected children.
