The value of the speech audiometry in diagnosis of X-linked adrenoleukodystrophy

Sir, X-linked adrenoleukodystrophy (X-ALD) is a hereditary metabolic disease with an incidence rate of 1:16,800. Mutations in the ABCD1 gene in X-q28 causes the presence of high levels of very long chain fatty acids (VLCFA) in the serum and tissues. X-ALD presents with adrenal insufficiency as well as severe cognitive and neurologic disability. Diagnosis of X-ALD requires the measurement of the concentration of VLCFA in plasma together with genetic analyses. We report a case of a 13 year-old boy with X-ALD who presented initially with only a hearing loss and attention deficit. This report indicates the importance of the word recognition score (WRS) in quiet for diagnosis of X-ALD. A 13 year-old boy presented with a hearing loss and attention deficit occurring over a two-month period. His routine audiological tests (pure-tone audiometry, tympanometry and word recognition in quiet) indicated normal hearing in the right ear, mild hearing loss in the left ear, and normal middle ear function in both ears. His diagnosis was sensorineural hearing loss, and he was referred to an audiology technician for a hearing aid fitting. The audiology technician noted that the patient's WRS in quiet was 72% at 60 dB HL for the right ear,