Table 1 Clinical features of the studied patients with Dorfman-Chanarin syndrome

Patients

1

2

3

4

5

6

7

8

9

10

11

12

13

14

15

Family

1

2

3

4

4

4

4

5

10

11

12

6

7

8

9

Gender

F

F

M

M

M

M

M

M

M

M

F

F

F

M

F

Age (years)

30

42

30

37

58

48

40

26

14

52

30

9

23

7 Mo

7 Mo

Jordans’ anomaly

+

ND

ND

+

ND

ND

ND

+

+

+

+

+

ND

+

ND

TSH/ FT4 (0.25-5μUI/mL/12.20 pmol/L

(N/N)^a

9.42/10.06

0.9/14.72

> 60/1.55

11.5/8.11

16.17/1084

11.87/8.79

2.25/17.32

3.02/18.21

ND/ND

4.5/11.5

2.82/18.65

3.30/18.53

ND/ND

ND/ND

Thyroid antibodies

–

–

ND

+

–

–

–

ND

ND

ND

ND

ND

ND

ND

ND

AST/ALT

▲/▲

▲/▲

▲/▲

▲/▲

▲/▲

▲/▲

▲/▲

▲/▲

▲/▲

▲/▲

▲/▲

▲/▲

▲/▲

ND/ND

ND/ND

CPK

ND

ND

ND

ND

ND

ND

ND

ND

▲

ND

▲

▲

▲

ND

ND

Ocular findings

N

Nystagmus Hypermetropia

Cataract Amblyopia

ND

N

ND

ND

N

N

Cataract

Cataract

N

N

ND

ND

Hearing impairment/audiogram

N/SHI

N/SHI

N/SHI

N/ND

+/SHI

N/ND

N/ND

N/SHI

N/SHI

+/SHI

N/ND

N/SHI

N/ND

ND

ND

Cervical ultrasound

Hypo echogenic

Enlarged thyroid

Enlarged thyroid

ND

Hypo echogenic

Hypo echogenic

Hypo echogenic

Enlarged thyroid

Hyper echogenic

ND

Hyper echogenic

ND

ND

ND

ND

Abdominal ultrasound

HMG/ steatosis

HMG/ steatosis Poorly differenciated kidney

HMG/ steatosis Poorly differenciated kidney

ND

ND

ND

HMG/ steatosis Poorly differenciated kidney

HMG/ steatosis

HMG/ steatosis

HMG/ steatosis

HMG/ steatosis SMG enlarged kidney

HMG/ steatosis

ND

ND

ND