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Leigh disease
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Leigh disease

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Contributors: Jamie Adams MD
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Synopsis

A rare inherited metabolic disorder that affects the central nervous system. Caused by mutations in mitochondrial or nuclear DNA, or by pyruvate dehydrogenase deficiency. Symptoms typically begin in infancy (<1 year), and patients present with nausea, vomiting, diarrhea, poor suck, dysphagia, and irritability, leading to failure to thrive. Patients deteriorate quickly and develop hypotonia, weakness, dystonia, ataxia, neuropathy, vision loss, nystagmus, encephalopathy, or seizures. There may be episodes of rapid decline and worsening encephalopathy following infections or illnesses. Prognosis is poor and affected individuals typically die within a few years, most commonly of respiratory failure.

For more information, see OMIM.

Codes

ICD10CM:
G31.82 – Leigh's disease

SNOMEDCT:
29570005 – Leigh's Disease

Differential Diagnosis & Pitfalls

Best Tests

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References

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Last Updated: 11/14/2018
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Leigh disease
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Leigh disease (Child) : Ataxia, Dysarthria, Dystonia, Hypotonia, Lactic acidosis, Muscle weakness, Ophthalmoplegia, Developmental delay, Episodic apnea
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