Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis

Area of Science:

• Genetics
• Neurology
• Ophthalmology

Background:

• Leber Hereditary Optic Neuropathy (LHON) is an inherited mitochondrial disorder causing vision loss.
• It results from specific mitochondrial DNA point mutations.
• Neurological complications are sometimes observed in LHON patients.

Purpose of the Study:

• To report a unique case of LHON in a child with transverse myelitis.
• To investigate the genetic basis of severe neurological manifestations in a family with LHON.
• To highlight the potential role of dual mitochondrial DNA mutations in LHON-associated myelopathy.

Main Methods:

• Case report of an 8-year-old boy with visual impairment and myelitis.
• Genetic analysis to identify mitochondrial DNA mutations.
• Family screening for LHON and associated neurological conditions.

Main Results:

• The patient presented with severe visual impairment and longitudinally extensive transverse myelitis.
• Dual mitochondrial DNA mutations (m.14484T>C and m.4160T>C) were identified.
• The m.4160T>C mutation, not previously reported outside this family, was associated with neurological symptoms.

Conclusions:

• This case highlights spinal cord lesions as a potential neurological complication in pediatric LHON.
• Dual mitochondrial DNA mutations may contribute to severe and extra-ocular manifestations of LHON.
• The novel m.4160T>C mutation warrants further investigation for its role in LHON pathogenesis.