Table 1 Patient’s clinical manifestation
| Phenotype | Emerge age | Relevant examination results |
|---|---|---|
| Diabetes Mellitus (insulin dependent) | 6 years old |
The level of fasting blood glucose was fluctuated from 8 to 10 mmol/L while the arrival at our center; HbA1c: 8.00%; Release of C-peptide after arginine infusion: 0 min➔0.013 nmol/L (0.039 ng/ml); 2 min➔0.035 nmol/L (0.105 ng/ml); 3 min➔0.037 nmol/L (0.111 ng/ml); 5 min➔0.036 nmol/L (0.110 ng/ml); Glutamic acid decarboxylase (GAD) antibodies (+). |
| Sensorineural deafness | 14 years old |
Pure tone average hearing level: 60-65 dB; Air bone gap≦10 dB; Acoustic impedance audiometry: type A tympanogram of both sides; Contralateral and ipsilateral acoustic stapedius reflex positive on both sides. |
| Optic nerve atrophy | 19 years old |
Visual acuity: count fingers at 15 cm (bilateral); Funduscopy: pallor retina and optic nerve with unclear cup to disc ratio; Brain MRI: bilateral optic nerve atrophy. |
| neurogenic bladder | 21 years old |
MRU showed bilateral dilated urinary tract; Urodynamic study: detrusor external sphincter dyssynergia (DESD). |
| Partial central diabetes insipidus | 21 years old |
Urinary osmolality: 95.0 mOsm/kg; Plasma osmolality: 291 mOsm/L; Urinary gravity: 1.002; Water-deprivation and vasopressin test showed partial central diabetes inspidus. |