J Endocrinol Metab

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. Bilateral severe ptosis and oculomotor disorder in all directions were observed. Arrows show the direction indicated to see.

Figure 2. The fundus examination of both eyes showed pale optic disc (arrows) and narrowing of vessels.

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
Variables	Values	Reference range
Leukocytes	8,800/µL	3,500 - 9,100
Erythrocytes	382 × 10⁴/µL	376 - 500
Hemoglobin	13.2 g/dL	11.3 - 15.2
Hematocrit	39.8%	33.4 - 44.9
Mean corpuscular volume	100 fL	79.0 - 100.0
Mean corpuscular hemoglobin	34.6 pg	26.3 - 34.3
Mean corpuscular hemoglobin concentration	33.2%	30.7 - 36.6
Platelets	27.0 × 10⁴/µL	13.0 - 36.9
Albumin	4.4 g/dL	3.8 - 5.2
Aspartate transaminase	55 U/L	10 - 40
Alanine aminotransferase	30 U/L	5 - 40
Lactate dehydrogenase	347 U/L	115 - 245
Alkaline phosphatase	191 U/L	115 - 359
Gamma-glutamyl transpeptidase	11 U/L	< 30
Creatine kinase	1208 U/L	45 - 163
Total cholesterol	159 mg/dL	150 - 219
Triglyceride	53 mg/dL	50 - 149
Total bilirubin	1.1 mg/dL	0.3 - 1.2
Blood urea nitrogen	9.0 mg/dL	6.5 - 13.0
Creatinine	0.25 mg/dL	0.47 - 0.79
Cystatin C	0.58 mg/L	0.56 - 0.87
Sodium	144 mmol/L	136 - 147
Pottasium	3.9 mmol/L	3.6 - 5.0
Chlorine	105 mmol/L	98 - 109
Calcium	9.8 mg/dL	8.5 - 10.2
C-reactive protein	0.003 mg/dL	< 0.30
Plasma glucose	104 mg/dL	70 - 109
Hemoglobin A1c	5.00%	4.6 - 6.2