Journal of Endocrinology and Metabolism, ISSN 1923-2861 print, 1923-287X online, Open Access
Article copyright, the authors; Journal compilation copyright, J Endocrinol Metab and Elmer Press Inc
Journal website http://www.jofem.org

Case Report

Volume 8, Number 6, December 2018, pages 149-152


A Case of Mitochondrial Disease First Diagnosed Over 30 Years After Onset

Figures

Figure 1.
Figure 1. Bilateral severe ptosis and oculomotor disorder in all directions were observed. Arrows show the direction indicated to see.
Figure 2.
Figure 2. The fundus examination of both eyes showed pale optic disc (arrows) and narrowing of vessels.
Figure 3.
Figure 3. Brain T2-weighted MRI showed diffuse high-intensity area (a), and remarkable atrophy of extraocular muscles (arrows) in bilateral eyes were observed (b).

Table

Table 1. Laboratory Data on Admission
 
VariablesValuesReference range
Leukocytes8,800/µL3,500 - 9,100
Erythrocytes382 × 104/µL376 - 500
Hemoglobin13.2 g/dL11.3 - 15.2
Hematocrit39.8%33.4 - 44.9
Mean corpuscular volume100 fL79.0 - 100.0
Mean corpuscular hemoglobin34.6 pg26.3 - 34.3
Mean corpuscular hemoglobin concentration33.2%30.7 - 36.6
Platelets27.0 × 104/µL13.0 - 36.9
Albumin4.4 g/dL3.8 - 5.2
Aspartate transaminase55 U/L10 - 40
Alanine aminotransferase30 U/L5 - 40
Lactate dehydrogenase347 U/L115 - 245
Alkaline phosphatase191 U/L115 - 359
Gamma-glutamyl transpeptidase11 U/L< 30
Creatine kinase1208 U/L45 - 163
Total cholesterol159 mg/dL150 - 219
Triglyceride53 mg/dL50 - 149
Total bilirubin1.1 mg/dL0.3 - 1.2
Blood urea nitrogen9.0 mg/dL6.5 - 13.0
Creatinine0.25 mg/dL0.47 - 0.79
Cystatin C0.58 mg/L0.56 - 0.87
Sodium144 mmol/L136 - 147
Pottasium3.9 mmol/L3.6 - 5.0
Chlorine105 mmol/L98 - 109
Calcium9.8 mg/dL8.5 - 10.2
C-reactive protein0.003 mg/dL< 0.30
Plasma glucose104 mg/dL70 - 109
Hemoglobin A1c5.00%4.6 - 6.2