Case Report
Leber’s Hereditary Optic Neuropathy Plus Causing Recurrent Myelopathy due to an MT-DN1 Mutation at G3635A
Table 1
Relevant cerebrospinal fluid (CSF) and serologic studies sent at initial presentation.
| | Test (source) | Result | Normal reference range |
| | Leber’s hereditary optic neuropathy panel (serum) | G3635A mutation with p.Ser110Asn (S110N) variant | Negative | | Neuromyelitis optica spectrum IgG antibody (serum) | Negative | Negative | | Myelin oligodendrocyte glycoprotein antibody (serum) | Negative | Negative | | Oligoclonal bands (CSF) | None | None | | IgG index (CSF) | 0.48 | <0.66 | | Myelin basic protein | <2 mcg/L | 2–4 mcg/L | | HIV antibody screen (serum) | Negative | Negative | | HTLV-I/II antibodies (serum) | Negative | Negative | | Paraneoplastic antibody panel (serum) | Negative | Negative | | VDRL (serum) | Positive | Negative | | VDRL (CSF) | Negative | Negative | | RPR (serum) | Negative | Negative | | Vitamin B12 (serum) | 902 pg/ml | 132–730 pg/ml | | Copper (serum) | 39 µg/dL after first plasmapheresis but 95 µg/dL on recheck | 72–166 µg/dL | | Vitamin E (serum) | 8.1 µg/mL | 5.0–20.0 µg/mL | | Vitamin A (serum) | 101.6 µg/dL | 20–100 µg/dL | | Folate (serum) | 32 ng/mL | >6.5 ng/mL | | Heavy metal screen (serum and urine) | Negative except elevated organic arsenic which was normal on 24 hour urine collection | Negative | | Meningitis PCR panel (CSF) | Negative | Negative | | Bacterial and atypical mycobacterial cultures (CSF) | Negative for growth | Negative for growth |
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