Condition | History | Examination Findings | 1st Test | Other Tests |
Alport’s syndrome | fatigue, breathlessness, haematuria, renal failure, family history of sensorineural hearing loss, renal failure | systemic hypertension, normal otoscopic examination | » audiometry: high-tone sensorineural hearing loss » renal biopsy: features on electron microscopy | » molecular genetic testing: confirmation of linkage to COL4A5 or COL4A3/4 |
Jervell Lange-Nielsen syndrome | profound hearing loss from birth, parents may be unaffected, episodes of syncope | irregular pulse | » audiometry: sensorineural hearing loss » ECG: long QT syndrome | |
Waardenburg’s syndrome | parent may be affected, autosomal-dominant inheritance, hearing loss can affect one or both ears | wide flat nose, different-coloured eyes, white lock of hair, premature grey hair | » audiometry: sensorineural hearing loss » referral to geneticist: diagnosis of syndrome | » specific genetic test: detects Waardenburg’s syndrome |
Acoustic neuroma (vestibular schwannoma) | unilateral hearing loss, tinnitus, dizziness, nausea, unilateral facial weakness, known neurofibromatosis | normal otoscopic examination, may have abnormal gait | » MRI brain and internal auditory canal with gadolinium: uniformly enhanced, dense mass | » audiometry: sensorineural hearing loss |
Paget’s disease | known Paget’s disease affecting the skull, pain and deformity in other bones, or may be asymptomatic, more common aged >50 years, hearing loss may be unilateral or bilateral | normal otoscopic examination, Weber’s test lateralises to the opposite side | » audiometry: progressive sensorineural hearing loss, beginning with the high frequencies » alkaline phosphatase: elevated » plain X ray of long bones or skull | |
Granulomatosis with polyangiitis | rhinitis, nosebleeds, gingivitis and loosening of teeth, arthritis, eye pain, blurred vision, diplopia | skin: palpable purpura or petechial, nodular, vesicular, haemorrhagic, and ulcerative lesions | » urine sample: haematuria or proteinuria if there is renal involvement » audiometry: conductive or sensorineural hearing loss » anti-neutrophil cytoplasmic antibodies (ANCA): positive | » CT chest: lung nodules (may be cavitating) |