Abstract
Introduction: Leigh´s syndrome (LS) is a rare neurodegenerative disease affecting mostly infants and scholar age children, caused by mutations in oxidation phosphorylation pathway related genes and leading to a mitochondrial dysfunction. Clinically, it is characterized by rapid neurological deterioration, typical neuroimaging findings and biochemical markers that guide its recognition. In most patients it has a progressive course and early mortality.
Case description: Here we show a 5-months-old infant with developmental milestones regression. Lactoacidosis was evident in labs, neuroimages had nucleobasal necrosis and whole genomic sequencing found a homozygous mutation in 3-hydroxyisobutyryl-CoA hydrolase HIBCH mitochondrial nuclear gene. The patient developed refractory epilepsy, abnormal movements, West´syndrome, apneas and death overcomes at 10-month of life by acute respiratory failure.
Discussion: LS is often a rapidly progressive disease, which can be caused by inborn errors of metabolism such as mutation of the HIBCH enzyme gene. Confirmatory diagnosis is made with exome or massive genomic sequencing and its management consists of treatment of symptoms, nutritional modifications, palliative care and genetic-reproductive counseling.
Conclusion: LS due to mutations in the HIBCH gene is a neurodegenerative disease with variable symptoms, affecting motor and intellectual development. Diagnosis is based on molecular biology. Current treatment seeks to alleviate symptoms and adjust nutrition, evidencing challenges inherent to inborn errors of metabolism.
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