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Ophthalmoplegia and Ondine's curse
Archives of Ophthalmology (Chicago, Ill. : 1960)
|October 1, 1977
Summary
Leigh's subacute necrotizing encephalopathy, a rare neurological disorder, can manifest with ocular and psychomotor issues. Early recognition of symptoms like ophthalmoplegia may improve treatment outcomes with thiamine therapy.
Area of Science:
- Neurology
- Pediatrics
- Biochemistry
Background:
- Leigh's subacute necrotizing encephalopathy (LSNE) is a rare, progressive neurodegenerative disorder affecting infants and young children.
- LSNE is typically associated with defects in mitochondrial energy metabolism, often linked to genetic mutations.
Observation:
- Two unrelated children presented with prominent ocular abnormalities and psychomotor difficulties.
- The older child also exhibited respiratory irregularity during sleep, a less common but significant symptom.
Findings:
- Pathologic examination revealed optic nerve lesions in one child, confirming the diagnosis of LSNE.
- LSNE is hypothesized to stem from the inhibition of a thiamine-dependent enzymatic process.
Implications:
- Prompt recognition of LSNE, particularly in children with ophthalmoplegia or other ocular signs, is crucial.
- Aggressive thiamine supplementation may potentially modify the disease course and improve treatment success.