Table 1. Phenotypic manifestations of maternally inherited diabetes and deafness (MIDD).
| Organs affected | Present case | Literature | Reference |
|---|---|---|---|
| Central nervous system | |||
| Cerebral atrophy | - | + | 5 |
| Cerebellar atrophy | - | + | 6 |
| Cerebellar ataxia | + | + | 7 |
| Basal ganglia calcification | - | + | 8 |
| Leukoencephalopathy | - | + | 9 |
| Nystagmus | - | + | 9 |
| Cerebrospinal fluid protein ↑ | - | + | 9 |
| Cerebrospinal fluid lactate ↑ | - | + | 6 |
| Neuropsychological deficits | - | + | 6 |
| Depression | - | + | 5 |
| Seizures | + | + | 10 |
| Peripheral nervous system | |||
| Myopathy | + | + | 11 |
| Rhabdomyolysis | - | + | 9 |
| Ptosis | - | + | 12 |
| Polyneuropathy | - | + | 9 |
| Ears | |||
| Hypoacusis, anacusis | + | + | 13 |
| Vestibular system | |||
| Impaired vestibule-ocular reflex | - | + | 9 |
| Eyes | |||
| Pigmentary retinopathy | - | + | 14 |
| Macular degeneration | - | + | 15 |
| Optic atrophy | - | + | 9 |
| Central retinal vein occlusion | - | + | 16 |
| Retinal/choroidal atrophy | - | + | 17 |
| Endocrine system | |||
| Diabetes | + | + | 9 |
| Hypoaldosteronism | - | + | 18 |
| Short stature | - | + | 19 |
| Hypogonadism (low testosterone) | + | - | Present case |
| Heart | |||
| Arterial hypertension | - | + | 14 |
| Cardiomyopathy | - | + | 20 |
| Heart failure | - | + | 21 |
| Gastrointestinal tract | |||
| Pancreatitis | - | + | 10 |
| Intestinal pseudo-obstruction | - | + | 22 |
| Constipation | - | + | 23 |
| Diarrhea | - | + | 23 |
| Kidneys | |||
| Renal failure | - | + | 12 |
| Glomerulosclerosis | - | + | 24 |
↑: elevated.