Journal of Clinical Medicine Research, ISSN 1918-3003 print, 1918-3011 online, Open Access |
Article copyright, the authors; Journal compilation copyright, J Clin Med Res and Elmer Press Inc |
Journal website http://www.jocmr.org |
Case Report
Volume 10, Number 11, November 2018, pages 848-852
Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis
Figures
Tables
Laboratory test (normal range) | Patient value |
---|---|
AST, U/L (5 - 32) | 347 |
Aldolase, U/L (0.5 - 8.5) | 6.6 |
LDH, U/L (135 - 225) | 246 |
Creatinine kinase, IU/L (24 - 170) | 10,206 |
CRP, mg/dL (0 - 0.49) | 0.80 |
ESR, mm/h (0 - 20) | 38 |
WBC, (5.3 - 15) × 103 | 7.7 × 103 |
Hemoglobin, g/dL (11 - 13.3) | 10.7 |
Laboratory test | Patient result |
---|---|
Ab: antibody; VUS: variants of unknown significance. | |
Nuclear antibody panel | Serum negative nuclear Ab |
Extractable nuclear antibody panel | Serum negative for ribonucleoprotein extractable nuclear Ab, Smith extractable nuclear Ab, SS-A Ab, and SS-B Ab |
Myositis Ab 3 panel | Serum negative for HIV-2 gp140 Ab, Jo-1 extractable nuclear Ab, PL-7 Ab, PL-12 Ab, EJ Ab, OJ Ab, Mi-2 Ab, signal recognition particle Ab, Ku Ab, U2 snRNP Ab, P155/140 AutoAb by WB, SS-A 52kD Ab IgG, PM-SCL extractable nuclear Ab, fibril U3 ribonucleoprotein Ab, and U1 small nuclear ribonucleoprotein Ab |
Anti-HMGCR Ab | Negative |
Chromosomal microarray | Heterozygous missense mutation in APOB gene and heterozygous deletion in LDHA gene |
Myopathy rhabdomyolysis panel | Abnormal VUS in ACAD9 associated with mitochondrial complex 1 deficiency, variant has not previously been reported |
Muscular dystrophy panel | Normal |