Leigh syndrome, French Canadian type
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Leigh syndrome, French Canadian type, also known as congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, is a rare mitochondrial disorder which is characterized by regular metabolic acidosis, hypotonia, developmental delays and facial dysmorphy.[1][2] It's associated with mutations in a gene in chromosome 2. Approximately 100 cases of this syndrome have been reported in medical literature.[3]
People with the disorder often don't show any symptoms at birth, but instead start showing them by early infancy; babies with this condition usually start losing basic motor skills (such as walking, moving their head, etc.), they may also show intellectual disabilities, facial dysmorphy, irritability, changes in behavior, epilepsy, low blood sugar, vomiting, diarrhea, and constant fatigue.
The brain and cognitive/intellectual symptoms are mainly caused by a deterioration in the myelin sheath that protect the cells in the brainstem and/or midbrain.
The general health symptoms are mainly caused by accumulation of toxic substances in the blood. These symptoms generally affect vision, the heart, and breathing difficulties.[4]