|
| | Case patient | Wolfram syndrome | Maternally inherited diabetes mellitus and deafness |
|
| Onset of diabetes mellitus | Diagnosed at the age of 39 years with gestational diabetes mellitus | Present in 98% [11]. Average age of diagnosis 6 years [1, 5] | Average age of diagnosis 37 years
[12] |
|
| Anti-GAD and anti-islet cell antibodies | Absent | Absent | Absent |
|
| Diabetic ketoacidosis at presentation | Absent | 3% [2] | No data reported |
|
| Retinal disease | Absent | 35% diabetic retinopathy after 15 years [13] | Macular pattern dystrophy [14] |
|
| Renal disorders | Absent | 8% [13] | Focal segmental glomerulosclerosis with hyalinised glomeruli, myocyte necrosis in afferent arterioles, and small arteries [15] |
|
| Optic atrophy | Diagnosed at the age of 10 years | Present in 82% [11].
Average age of diagnosis 10-11 years [5, 11] | No
macular retinal dystrophy more common [14] |
|
| Sensorineural hearing loss | Diagnosed at the age of 25 years | Present in 48% [11]. Average age of diagnosis 16 years [1, 5] | Present in 75%
Diagnosed between 2 and 61 years, frequently precedes diagnosis of DM, mean age of onset of hearing loss 33.2 years [15] |
|
| Diabetes insipidus | Absent | Present in classical WS 38% [11].
Average age of diagnosis 14-15 years [1, 5].
Absent in WS (type 2) [16] | Not routinely screened for |
|
| Neurological manifestations | Present, symptomatic by the age of 25 years | Present in 53% [5].
Average age of diagnosis 15 years [5] cerebellar ataxia, peripheral neuropathy, and dementia | Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) [17] |
|
| Urological manifestations | Absent | Present in 19% [11].
Average age of diagnosis 12–20 years [1, 5] | Not routinely screened for |
|
| Gastrointestinal manifestations | Absent | Gastrointestinal dysmotility in 24% [1].
Severe gastrointestinal ulcer and bleeding in WS (type 2) [18] | Gastrointestinal dysmotility |
|
| Psychiatric manifestations | Absent | 39% [5] | Depression, dementia, and psychosis [19] |
|
| Median age of death | n/a | 39 years [1] | No reported data |
|
| Cause of death | n/a | Neurological complications [1, 2] | Lactic acidosis, renal failure [19] |
|
