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|Title: ||Neuropathy in childhood mitochondrial disease, including riboflavin transporter deficiency: phenotype, neurophysiology and disease-modifying therapy in a recently described treatable disorder|
|Authors: ||Menezes, Manoj Peter|
|Issue Date: ||17-Jun-2015|
|Publisher: ||University of Sydney|
Sydney Medical School
|Abstract: ||Introduction: Defining the neurophysiological features of the peripheral neuropathy associated with childhood mitochondrial disease, including the neuropathy/neuronopathy associated with Brown-Vialetto-Van Laere syndrome (BVVL), will aid in classifying the mitochondrial syndrome, directing genetic testing and instituting therapy.
Methods: Nerve conduction studies and clinical assessments were performed on children with nuclear or mitochondrial genome mutations. The clinical and genetic profile, neurophysiology, histopathology, audiology and response to riboflavin therapy of nine children with BVVL due to RFVT2 deficiency were evaluated.
Results: Peripheral neuropathy was more frequent with nuclear gene mutations. SURF1 was associated with a demyelinating neuropathy while PDHc deficiency caused an axonal neuropathy. POLG mutations caused a sensory axonal neuropathy. The neuropathy associated with mitochondrial disease was not length-dependent. Children with RFVT2 deficiency presented with an auditory neuropathy and sensory ataxia, and developed upper limb weakness. Nerve excitability studies showed an increase in myelin permeability. Riboflavin therapy caused partial reversal of these changes and improvement in strength, audiology and respiratory function.
Conclusions: Nerve conduction studies should be part of the initial assessment of children with suspected mitochondrial disease. Clinicians need to be familiar with the unique phenotype of RFVT2 deficiency so that affected children are diagnosed early and commenced on appropriate therapy.|
|Type of Work: ||PhD Doctorate|
|Type of Publication: ||Doctor of Philosophy Ph.D.|
|Appears in Collections:||Sydney Digital Theses (Open Access)|
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|MENEZES Manoj - Final Thesis.pdf||Thesis||3.32 MB||Adobe PDF|
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