Table 1.
Abnormal results of workup performed at Johns Hopkins Hospital
| Category | Tests with abnormal results (reference range) |
| Routine | Alkaline phosphatase: 183 (30–120 U/L) Aspartate transaminase: 38 (0–31 U/L) |
| Nutritional | Vitamin B12: 151 (232–1245 pg/mL) Vitamin D: 23 (30–100 ng/mL) |
| Metabolic | Total cholesterol: 257 mg/dL (0–200 mg/dL) Lactic acid: 3.6 mmol/L (0.5–2.0 mmol/L) Amino acid chromatography: Increased glycine, increased alanine, increased alanine to lysine |
| Immunologic/inflammatory | ESR: 26 (4–25 mm/hour) CRP: 1.2 (<0.5 g/dL) Total complement CH50: >60 U/mL (31–60 U/mL) IgG2: 154 mg/dL (242–700 mg/dL) IgG4: 3.4 mg/dL (3.9–86.4 mg/dL) SPEP: Gamma region decreased |
| Infectious | JCV Antibody Index: 1.89 (<0.20 negative, >0.40 positive) |
| Genetic | WES: compound heterozygosity for two variants of LAMA2-MD (c.526 T>C, p.C176R and c.443G>, p.R148Q) |
| Ancillary tests | OCT: Evidence of bilateral optic neuropathy EMG/NCS: Demyelinating length dependent polyneuropathy |
| Imaging | MRI brain, cervical, thoracic spine with and without contrast (figure 1) |
Abnormal results of diagnostic workup that was completed at Johns Hopkins Hospital. Laboratory values for normal results are not listed but included the following: Routine tests: Complete blood count, comprehensive metabolic panel. Nutritional labs: Copper, ceruloplasmin, zinc vitamins (B1, B6, B12, D, E), folate, homocysteine, methylmalonic acid. Metabolic: Thyroid stimulating hormone, thyroxine, haemoglobin A1C, lactic acid, pyruvic acid, free fatty acids, essential fatty acids, very long chain fatty acids, arylsulfatase, alpha galactosidase triglycerides, amino acid chromatography, lipid panel. Immunologic/inflammatory: Antibodies: antinuclear (ANA), antineutrophil cytoplasmic (ANCA), perinuclear antibody, cytoplasmic, double-stranded DNA, ribonucleotide protein, smith, Ro 52, Ro 60, La, scleroderma (Scl-70), cyclic citrullinated peptide 3, thyroid peroxidase, histone, glutamic acid decarboxylase-65, Beta2-Glycoprotein (IgG, IgM, IgA), cardiolipin (APL/MPL/GPL), NMO, MOG, Mayo Clinic paraneoplastic panel. Other: erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), rheumatoid factor, DRVVT, total complement CH50, C3, C4, ACE, immunoglobulins A, M, G (including subclasses), serum protein electrophoresis (SPEP), kappa and lambda free light chains. Infectious: Treponema pallidum CL antibody, Burgdorferi antibody, Whipples PCR, varicella zoster virus IgG, hepatitis C antibody, hepatitis B surface antigen, hepatitis B core antibody, total hepatitis B surface antibody, T Spot tuberculosis, HIV 1 and 2, JC virus antibody index. Genetic: Notch 3/CADASIL, HTRA1/CARASIL, GLA gene test for Fabry’s, mitochondrial DNA Screen, whole exome sequencing (WES).