Table 1. Clinical comparison between Alström syndrome, Wolfram syndrome and patient's characteristics.
| Clinical Feature | Alström syndrome | Wolfram Syndrome | Patient | |
|---|---|---|---|---|
| Eye | Cone rod dystrophy/retinal pigmentosis | + (100%) | − | Retinal pigmentosis |
| Optic atrophy | − | + (100%) | Optic atrophy | |
| Nystagmus | + | + | Nystagmus | |
| Hearing | Sensorineural hearing loss | + | + | Sensorineural hearing loss |
| Obesity/ stature | Truncal obesity | + (98%) | − | Absent (BMI=22.9) |
| Short stature (adult, <5th percentile) | + (98%) | − | Absent (height: 167 cm) | |
| Diabetes | Insulin resistance/type 2 diabetes | + | − | Insulin resistance |
| Insulin-dependent diabetes at onset | −a | + (100%) | Insulin dependent diabetes | |
| Diabetes insipidus | −a | + | Partial diabetes insipidus | |
| Dermatology | Acanthosis nigricans | + | − | Absent |
| Hypogonadism | Male hypogonadism | + | + | Hypogonadotropic hypogonadism |
| Lipids | Hypertriglyceridemia/hypercholesterolemia | + | − | Slightly elevated triglycerides |
| Hepatic | Cirrhosis and steatosis | + | − | Cirrhosis and focal steatosis |
| Hepatosplenomegaly | + | − | Splenomegaly | |
| Urorenal | Urological dysfunction, incontinence | + | − | Absent |
| Renal tract abnormality | − | + | Absent | |
| Respiratory | Chronic obstructive pulmonary disease | + | − | Absent |
| Cardiovascular | Dilated cardiomyopathy | + | − | Absent |
| Cognition | Developmental delay | + | − | Mild mental retardation |
| Neurological | Seizures | + | + | Seizures |
| Peripheral Neuropathy | − | + | Peripheral neuropathy | |
| Skeletal | Skeletal deformities | + | − | Kyphosis |
Clinical descriptions for Alström and Wolfram syndromes are compiled from Barret et al.9 and Marshall et al.10,11 +: frequent occurrence of the trait; −: absence of the trait. Frequencies of the most characteristic traits are shown in parentheses. aReported in one patient only.