Leigh Syndrome

What this deck covers

Leigh Syndrome in fifteen clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the fifteen cases you are asked to choose between options such as: Renal tubular acidosis with Fanconi syndrome, Hepatomegaly with elevated transaminases and coagulopathy, Hypertrophic cardiomyopathy with metabolic lactic acidosis, Malabsorption with protein-losing enteropathy, Nystagmus and optic atrophy on fundoscopic examination, Bilateral macular cherry-red spots with corneal clouding, Pyruvate carboxylase deficiency disrupting gluconeogenesis, Elevated urine methylcitrate and 3-hydroxypropionic acid, Elevated plasma phenylalanine with low tyrosine, POLG — mitochondrial DNA polymerase gamma, LRPPRC — French-Canadian Leigh syndrome variant, Krabbe disease (globoid cell leukodystrophy), Valproate (valproic acid).

Clinical pearls from this deck

• The defining pattern is loss of previously acquired milestones after a period of normal development, typically at 3–24 months and classically triggered by an intercurrent febrile illness. Head control, sitting and babbling are the skills most often lost first.
• Brainstem nuclei are prime targets for the necrotising lesions. Nystagmus and ophthalmoplegia reflect oculomotor nucleus damage, irregular breathing and apnoea the respiratory centre, and dysphagia the nucleus ambiguus and vagal motor nucleus.

The fifteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.