Non-alcoholic fatty liver disease later diagnosed as myotonic dystrophy

Table 1 Laboratory findings at the time of liver biopsy

Item	Value	Item	Value	Item	Value
WBC	4450 /μL	BUN	10 mg/dL	IgG	1512 mg/dL
RBC	544 × 104 /μL	Cr	0.8 mg/dL	IgA	235 mg/dL
Hb	17.0 g/dL	UA	7.2 mg/dL	IgM	131 mg/dL
Plt	19.9 × 104/μL	Na	146 mEq/L	ANA	(-)
		K	4.3 mEq/L	HBsAg	(-)
TP	7.4 g/dL	Cl	109 mEq/L	Anti-HCV	(-)
Alb	4.2 g/dL
T-Bil	0.5 mg/dL	T-Chol	257 mg/dL	TSH	2.1 μIU/mL
AST	74 U/L	TG	274 mg/dL	FT3	3.2 pg/mL
ALT	102 U/L	HDL-C	76 mg/dL	FT4	1.0 ng/dL
LDH	260 U/L
ALP	202 U/L	FBS	87 mg/dL	HA	27 ng/mL
GGT	121 U/L	HbA1c	5.0 %	4C7S	4.2 ng/mL
ChE	390 IU/L	Insulin	30 μU/mL
		HOMA-IR	6.4	Fe	91 μg/dL
				Ferritin	77 ng/mL
				Cu	89 μg/dL
				Ceruloplasmin	26 mg/dL

Bold underlined parameters indicate abnormally elevated values. WBC: White blood cell; RBC: Red blood cell; Hb: Hemoglobin; Plt: Platelet count; TP: Total protein; Alb: Albumin; T-Bil: Total bilirubin; AST: Aspartate aminotransferase; ALT: Alanine aminotransferase; LDH: Lactate dehydrogenase; ALP: Alkaline phosphatase; GGT: Gamma-glutamyl transferase; ChE: Choline esterase; BUN: Blood urea nitrogen; Cr: Creatinine; UA: Uric acid; T-Chol: Total cholesterol; TG: Triglycerides; HDL-C: High-density-lipoprotein cholesterol; Fe: Iron; FBS: Fasting blood sugar; HbA1c: Hemoglobin A1c; HOMA-IR: Homeostasis model assessment for insulin resistance; Ig: Immunoglobulin; ANA: Anti-nuclear antibody; HBsAg: Hepatitis B virus surface antigen; HCV: Hepatitis C virus; TSH: Thyroid stimulating hormone; FT3: Free triiodothyronine; FT4: Free thyroxine; HA: Hyaluronic acid; 4C7s: Type 4 collagen 7S.

Table 2 Summary of previously reported liver pathology in 7 myotonic dystrophy type 1 patients with non-alcoholic fatty liver disease

Item	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6	Case 7
Steatosis (0-3)	3	1	1	2	1	3	2
Lobular inflammation (0-3)	0	0	0	1	1	3	1
Ballooning (0-2)	1	1	0	ND	1	2	1
NAFLD activity score (0-8)	4	2	1	ND	3	8	4
Diagnosis	NASH	NASH	SS	ND	NASH	NASH	NASH
Fibrosis (0-4)	2	1a	1a	1	1a	4	1a
Ref.	Shieh et al[11]	Shieh et al[11]	Shieh et al[11]	Bhardwaj et al[12]	Yamada et al[13]	Ariake et al[14]	Our case

Pathological findings were scored according to the criteria proposed by Kleiner et al[6]. ND: Not determined; NASH: Non-alcoholic steatohepatitis; SS: Simple steatosis (non-alcoholic fatty liver).