Table 2 Brief summarization of reported attenuated or incomplete cases of ARC syndrome

[13]

2.5y

c.240–577_290-156del

c.1225 + 5G > C

ⒶⓇⒸ

1. Ichthyosis

2. Pruritus

3. Growth failure

4. Hearing loss

MRI: dysmorphic ventricle

1. Conventional treatments

2. Cutaneous biliary diversion

3. Supplemental feeds via gastric tube

1. Cholestasis and ichthyosis showed no response to conventional therapy

2. Ichthyosis improved after cutaneous biliary diversion

3. Growth improved with supplemental feeds via gastric tube

[13]

12 m

c.1261_1262delCA

c.1225 + 5G > C

ⒶⓇⒸ

1. Pruritus

2. Growth failure

3. Hearing loss

4. Hypercholanemia

5. Abnormal dental composition

MRI: hin corpus callosum and diffuse paucity of white matter

1. Rifampicin, phenobarbitone, and ursodeoxycholic acid treatment

2. Hearing aid

3. Dysplasia corrective surgery

1. Language skill improved with hearing aid

2. Growth failure and pruritus wasn’t improved

[7]

7.7y

c.1157A > C (p.His386Pro)

ⒶⓇⒸ

1. Growth failure

2. Dry skin

MRI: marked hypoplasia of corpus callosum, decrease in white matter volume, increased T1 signal in basal ganglia

Biliary diversion

Pruritus improved

[7]

3y

c.1157A > C (p.His386Pro)

ⒶⓇⒸ

1. Growth failure

2. Ichthyosis

MRI: thin and hypoplastic corpus callosum, white matter hypoplasia and delayed myelination, increased signal in basal ganglia

Biliary diversion

Pruritus improved

[7]

11y

1225 + 5G > C and partial deletion in the VPS33B gene

ⒶⓇ

1. Ichthyosis

2. Hearing loss

3. Growth failure

Ultrasound: small kidneys; echogenic liver without hepatosplenomegaly

Potassium citrate and enalapril

N/A